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ALAS1 Gene

protein-coding   GIFtS: 65
GCID: GC03P052207

Aminolevulinate, Delta-, Synthase 1

(Previous symbols: ALAS3, ALAS)
  See ALAS1-related diseases

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aminolevulinate, Delta-, Synthase 11 2     ALASH2 3
ALAS31 2 3     EC 8
ALAS1 2     5-Aminolevulinate Synthase, Nonspecific, Mitochondrial2
Delta-ALA Synthase 12 3     MIG42
Delta-Aminolevulinate Synthase 12 3     Migration-Inducing Protein 42
5-Aminolevulinic Acid Synthase 12 3     EC 2.3.18
ALAS-H2 3     

External Ids:    HGNC: 3961   Entrez Gene: 2112   Ensembl: ENSG000000233307   OMIM: 1252905   UniProtKB: P131963   

Export aliases for ALAS1 gene to outside databases

Previous GC identifiers: GC03P051324 GC03P051484 GC03P052088 GC03P052190

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ALAS1 Gene:
This gene encodes the mitochondrial enzyme which is catalyzes the rate-limiting step in heme (iron-protoporphyrin)
biosynthesis. The enzyme encoded by this gene is the housekeeping enzyme; a separate gene encodes a form of the
enzyme that is specific for erythroid tissue. The level of the mature encoded protein is regulated by heme: high
levels of heme down-regulate the mature enzyme in mitochondria while low heme levels up-regulate. A pseudogene of
this gene is located on chromosome 12. Multiple alternatively spliced variants, encoding the same protein, have
been identified. (provided by RefSeq, Dec 2011)

GeneCards Summary for ALAS1 Gene:
ALAS1 (aminolevulinate, delta-, synthase 1) is a protein-coding gene. Diseases associated with ALAS1 include x-linked sideroblastic anemia, and acute porphyria. GO annotations related to this gene include 5-aminolevulinate synthase activity and pyridoxal phosphate binding. An important paralog of this gene is GCAT.

Gene Wiki entry for ALAS1 Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ALAS1 gene promoter:
         AP-1   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidALAS1 promoter sequence
   Search Chromatin IP Primers for ALAS1

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ALAS1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p21.1   Ensembl cytogenetic band:  3p21.2   HGNC cytogenetic band: 3p21

ALAS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ALAS1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P052207:  view genomic region     (about GC identifiers)

52,232,102 bp from pter      End:
52,248,343 bp from pter
16,242 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or GeneTex.)
About This Section

UniProtKB/Swiss-Prot: HEM1_HUMAN, P13196 (See protein sequence)
Recommended Name: 5-aminolevulinate synthase, nonspecific, mitochondrial precursor  
Size: 640 amino acids; 70581 Da
Cofactor: Pyridoxal phosphate
Subunit: Homodimer
Miscellaneous: There are two delta-ALA synthases in vertebrates: an erythroid- specific form and one
(housekeeping) which is expressed in all tissues
Sequence caution: Sequence=CAA68506.1; Type=Frameshift; Positions=Several;
Alternative splicing: 2 isoforms:  P13196-1   P13196-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ALAS1: NX_P13196

Explore proteomics data for ALAS1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys539
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ALAS1 (P13196) (see all 28)

    See ALAS1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000679.1  NP_954635.1  

    ENSEMBL proteins: 
     ENSP00000417719   ENSP00000378416   ENSP00000309259   ENSP00000418779   ENSP00000417352  
    Reactome Protein details: P13196

    ALAS1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Novus Biologicals ALAS1 Protein
    Novus Biologicals ALAS1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ALAS1

    Search eBioscience for Proteins for ALAS1 

    antibodies-online proteins for ALAS1 (5 products) 

    antibodies-online peptides for ALAS1

    Search GeneTex for Proteins for ALAS1 

    ALAS1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    antibodies-online antibodies for ALAS1 (30 products) 

    GeneTex Antibodies for ALAS1:  
                        ALAS1 Antibodies

    ALAS1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for ALAS1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ALAS1
    Cloud-Clone Corp. CLIAs for ALAS1
    Search eBioscience for ELISAs for ALAS1 
    antibodies-online kits for ALAS1 (19 products) 

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
    About This Section

    Selected InterPro protein domains (see all 7):
     IPR010961 4pyrrol_synth_NH2levulA_synth
     IPR015118 5aminolev_synth_preseq
     IPR001917 Aminotrans_II_pyridoxalP_BS
     IPR015422 PyrdxlP-dep_Trfase_major_sub2
     IPR004839 Aminotransferase_I/II

    Graphical View of Domain Structure for InterPro Entry P13196

    ProtoNet protein and cluster: P13196

    2 Blocks protein domains:
    IPB001917 Aminotransferase
    IPB004839 Aminotransferase

    UniProtKB/Swiss-Prot: HEM1_HUMAN, P13196
    Similarity: Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family

    Find genes that share domains with ALAS1           About GenesLikeMe

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway, and/or Taconic Biosciences, CRISPR knockouts from OriGene, transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Clones from OriGene, GenScript, Sino Biological, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HEM1_HUMAN, P13196
    Catalytic activity: Succinyl-CoA + glycine = 5-aminolevulinate + CoA + CO(2)

         Genatlas biochemistry entry for ALAS1:
    aminolevulinate,delta-,synthase 1,housekeeping gene,liver,mitochondrial,pyridoxal dependent,catalyzing the first
    step of porphyrin biosynthesis

         Enzyme Numbers (IUBMB): EC 2 EC 2.3.12

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00038705-aminolevulinate synthase activity IEA--
    GO:0030170pyridoxal phosphate binding IEA--
    Find genes that share ontologies with ALAS1           About GenesLikeMe

         1 GenomeRNAi human phenotype for ALAS1:
     Decreased viability of wild-ty 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Alas1):
     embryogenesis  growth/size/body  mortality/aging 

    Find genes that share phenotypes with ALAS1           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for ALAS1

        Taconic Biosicences: Generate A Custom CRISPR Mouse Model For Your Study 

    CRISPR Knockouts: 
       OriGene CRISPR knockouts for ALAS1

    miRTarBase miRNAs that target ALAS1:
    hsa-mir-423-3p (MIRT042490), hsa-mir-484 (MIRT042198)

    Block miRNA regulation of human, mouse, rat ALAS1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate ALAS1
    SwitchGear 3'UTR luciferase reporter plasmidALAS1 3' UTR sequence
    Inhib. RNA
    OriGene RNAi products in human, mouse, rat for ALAS1
    Predesigned siRNA for gene silencing in human, mouse, rat ALAS1

    OriGene clones in human, mouse for ALAS1 (see all 12)
    OriGene ORF clones in mouse, rat for ALAS1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ALAS1 (NM_000688)
    Browse Sino Biological Human cDNA Clones
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALAS1

    Cell Line
    GenScript Custom overexpressing Cell Line Services for ALAS1
    Browse ESI BIO Cell Lines and PureStem Progenitors for ALAS1 
    In Situ Assay

    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALAS1

    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
    About This Section

    Subcellular locations from UniProtKB/Swiss-Prot
    HEM1_HUMAN, P13196: Mitochondrion matrix
    Subcellular locations from COMPARTMENTS: 


    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IDA--
    GO:0005759mitochondrial matrix TAS--

    Find genes that share ontologies with ALAS1           About GenesLikeMe

    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
    About This Section

    SuperPaths for ALAS1 About    
    See pathways by source

    SuperPathContained pathways About
    1Metabolism of porphyrins
    Metabolism of porphyrins0.56
    Heme Biosynthesis0.00
    Porphyrin and chlorophyll metabolism0.56
    heme biosynthesis0.00
    tetrapyrrole biosynthesis0.00
    Heme biosynthesis0.00
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    3Fatty acid, triacylglycerol, and ketone body metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism0.65
    PPARA Activates Gene Expression0.63
    Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)0.65
    4Glycine, serine and threonine metabolism
    Glycine, serine and threonine metabolism
    5FOXA2 and FOXA3 transcription factor networks
    FOXA2 and FOXA3 transcription factor networks

    Find genes that share SuperPaths with ALAS1           About GenesLikeMe

    Pathways by source                                   See SuperPaths
    Show all pathways

    4 BioSystems Pathways for ALAS1
        Heme Biosynthesis
    tetrapyrrole biosynthesis
    heme biosynthesis
    FOXA2 and FOXA3 transcription factor networks

    3 Reactome Pathways for ALAS1
        Heme biosynthesis
    PPARA activates gene expression
    Transcriptional activation of mitochondrial biogenesis

    3 Kegg Pathways  (Kegg details for ALAS1):
        Glycine, serine and threonine metabolism
    Porphyrin and chlorophyll metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: HEM1_HUMAN, P13196
    Pathway: Porphyrin-containing compound metabolism; protoporphyrin-IX biosynthesis; 5-aminolevulinate from glycine:
    step 1/1

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ALAS1: 

              Amino Acid Metabolism II in human mouse rat
              Circadian Rhythms in human mouse rat


        GeneGlobe Interaction Network for ALAS1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ALAS1 (P131962, 3 ENSP000003092594) via UniProtKB, MINT, STRING, and/or I2D (see all 56)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDK5Q005352, 3, ENSP000002975184MINT-8251454 I2D: score=2 STRING: ENSP00000297518
    PIK3CBP423382, 3, ENSP000002891534MINT-8266150 I2D: score=2 STRING: ENSP00000289153
    C8orf33Q9H7E92, 3MINT-8250297 I2D: score=2 
    CDKN1AP389362, 3MINT-8251551 I2D: score=2 
    NUDT3O959892, 3MINT-8264616 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006778porphyrin-containing compound metabolic process TAS--
    GO:0006782protoporphyrinogen IX biosynthetic process IEA--
    GO:0006783heme biosynthetic process TAS--
    GO:0008152metabolic process ----
    GO:0009058biosynthetic process ----

    Find genes that share ontologies with ALAS1           About GenesLikeMe

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
    About This Section

    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ALAS1 (HEM1)

    10 HMDB Compounds for ALAS1    About this table
    CompoundSynonyms CAS #PubMed Ids
    5-Aminolevulinic acid5-amino-4-oxo-Pentanoate (see all 18)106-60-5--
    Acetyl-CoAS-Acetyl coenzyme A (see all 13)72-89-9--
    Carbon dioxideCarbon oxide (see all 5)124-38-9--
    Coenzyme AAcetoacetyl coenzyme A sodium salt (see all 21)85-61-0--
    Formyl-CoAFormyl coenzyme A 13131-49-2--
    Glycine2-Aminoacetate (see all 15)56-40-6--
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    L-2-Amino-3-oxobutanoic acid(2S)-2-amino-3-oxobutanoate (see all 10)----
    Pyridoxal 5'-phosphateApolon B6 (see all 27)54-47-7--
    Succinyl-CoACoenzyme A S-(hydrogen succinate) (see all 24)604-98-8--

    1 DrugBank Compound for ALAS1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Pyridoxal PhosphateCodecarboxylase (see all 9)54-47-7targetcofactor12699240 15251194 12191993 17469798 15840827

    Selected Novoseek inferred chemical compound relationships for ALAS1 gene (see all 17)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    5-aminolevulinic acid 92.6 54 11343251 (3), 11267664 (2), 12191993 (2), 1859461 (1) (see all 39)
    porphobilinogen 74.5 5 2032026 (1), 15144063 (1), 11343251 (1), 19477221 (1)
    pyridoxal 5-phosphate 72.2 10 17469798 (2), 15840827 (1), 16121195 (1), 8916896 (1) (see all 7)
    actb 67.3 2 16600798 (1), 16211407 (1)
    pyridoxal 66.4 2 12686158 (1), 12191993 (1)
    haem 65.2 5 11202048 (1), 11267664 (1), 15134506 (1), 15269772 (1)
    vitamin b6 52.3 1 1415186 (1)
    porphyrin 42.6 2 17975826 (1), 8171439 (1)
    iron 40.9 8 9521555 (2), 8645006 (1), 1415186 (1), 2095458 (1) (see all 5)
    phenobarbital 29.6 5 7678728 (3), 11343251 (1)

    Find genes that share compounds with ALAS1           About GenesLikeMe

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    REFSEQ mRNAs for ALAS1 gene (4 alternative transcripts): 
    NM_000688.5  NM_199166.2  XM_005264944.2  XM_005264945.1  

    Unigene Cluster for ALAS1:

    Aminolevulinate, delta-, synthase 1
    Hs.476308  [show with all ESTs]
    Unigene Representative Sequence: NM_000688
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000469224(uc003dcx.2) ENST00000394965(uc003dcy.2 uc003dcz.2 uc011bec.2)
    ENST00000310271 ENST00000484952 ENST00000493402 ENST00000459884
    Block miRNA regulation of human, mouse, rat ALAS1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate ALAS1
    SwitchGear 3'UTR luciferase reporter plasmidALAS1 3' UTR sequence
    Inhib. RNA
    OriGene RNAi products in human, mouse, rat for ALAS1
    Predesigned siRNA for gene silencing in human, mouse, rat ALAS1
    OriGene clones in human, mouse for ALAS1 (see all 12)
    OriGene ORF clones in mouse, rat for ALAS1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ALAS1 (NM_000688)
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALAS1
    OriGene qPCR primer pairs and template standards for ALAS1
    OriGene qSTAR qPCR primer pairs in human, mouse for ALAS1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ALAS1
      QuantiTect SYBR Green Assays in human, mouse, rat ALAS1
      QuantiFast Probe-based Assays in human, mouse, rat ALAS1

    Additional mRNA sequence: 

    AB063322.1 AK293190.1 AK300993.1 AK312566.1 AY260745.1 BC011798.2 BC063005.1 X56351.1 

    18 DOTS entries:

    DT.448881  DT.100825677  DT.100825666  DT.100825667  DT.100825673  DT.120879853  DT.91759072  DT.100702945 
    DT.100825669  DT.100825670  DT.95217360  DT.95246281  DT.100030041  DT.100650319  DT.91759069  DT.95217385 
    DT.91673142  DT.92028635 

    Selected AceView cDNA sequences (see all 369):

    BU623798 BI334617 CF272420 CD367952 F08920 BM561578 BI907342 CA392829 
    BC011798 CA306408 BG685330 AL553505 AI148780 AA434424 F11257 AL532694 
    BG826691 CA388886 BQ421331 AA921941 F02941 AA434197 BP364914 BU507346 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ALAS1 (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b
    SP1:                                -                                                                                             
    SP2:                          -     -                                                                                             
    SP3:                          -     -     -                                                                                       
    SP4:                          -     -                                                                                             
    SP5:                                -     -                                                                                       

    ECgene alternative splicing isoforms for ALAS1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ALAS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    ALAS1 Expression
    About this image

    ALAS1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     Adrenal Gland (Endocrine System)    fully expand to see all 3 entries
             adrenal gland ; glandular cells   
             gland/adrenal gland/medulla   
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     Testis (Reproductive System)    fully expand to see all 2 entries
             Leydig Cells Testis Interstitium
             Testis Interstitium
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     Ovary (Reproductive System)
    ALAS1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ALAS1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.476308
        Pathway & Disease-focused RT2 Profiler PCR Arrays including ALAS1: 
              Amino Acid Metabolism II in human mouse rat
              Circadian Rhythms in human mouse rat

    OriGene qPCR primer pairs and template standards for ALAS1
    OriGene qSTAR qPCR primer pairs in human, mouse for ALAS1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ALAS1
    QuantiTect SYBR Green Assays in human, mouse, rat ALAS1
    QuantiFast Probe-based Assays in human, mouse, rat ALAS1
    In Situ
    Assay Products:

    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALAS1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ALAS1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    Gene Description Human
    (Mus musculus)
    Mammalia Alas11 , 5 aminolevulinic acid synthase 11, 5 87.5(n)1
      9 (57.46 cM)5
    116551  NM_020559.21  NP_065584.21 
    (Gallus gallus)
    Aves ALAS11 aminolevulinate, delta-, synthase 1 76.57(n)
      552895  NM_001018012.1  NP_001018012.1 
    (Anolis carolinensis)
    Reptilia ALAS16
    aminolevulinate, delta-, synthase 1
    1 ↔ 1
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC687002 hypothetical protein MGC68700 76.74(n)    BC059988.1 
    (Danio rerio)
    Actinopterygii alas12 aminolevulinate, delta-, synthetase 1 76.45(n)   64608  BC054574.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Alas3 5-aminolevulinate synthase 64(a)   60A14   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HEM16
    5-aminolevulinate synthase, catalyzes the first st...
    1 → many
    IV(927452-929098) YDR232W

    ENSEMBL Gene Tree for ALAS1 (if available)
    TreeFam Gene Tree for ALAS1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to Build 68,Sets of similar genes according to GenesLikeMe)
    About This Section

    Paralogs for ALAS1 gene
    GCAT2  ALAS22  
    1 SIMAP similar gene for ALAS1 using alignment to 4 protein entries:     HEM1_HUMAN (see all proteins):

    Find genes that share paralogs with ALAS1           About GenesLikeMe

    1 Pseudogene for ALAS1

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and 4UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    Selected SNPs for ALAS1 (see all 383)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    Chr 3 posSequence#AA
    --52230123(+) AGTTGC/TTTACA 2 -- us2k10--------
    --52230319(+) CAAGCC/TTTGAA 2 -- us2k10--------
    C--52230370(+) CTGGG-/GTTTGA 2 -- us2k10--------
    C,F,A--52230440(+) CCCCCA/CAAAAA 2 -- us2k13Minor allele frequency- C:0.06NA WA 122
    C,F,A--52230475(+) gctcaA/Tgccta 2 -- us2k19Minor allele frequency- T:0.41NA WA EA 370
    --52230509(+) GAGGGC/TGATCA 2 -- us2k10--------
    --52230641(+) GAATCA/GCTTGA 2 -- us2k10--------
    --52230669(+) TGCAGC/TGAGCC 2 -- us2k10--------
    C,F--52230786(+) CAGGGA/TTTATG 2 -- us2k11Minor allele frequency- T:0.04WA 118
    C--52230799(+) CCTATC/TGCCCA 2 -- us2k11Minor allele frequency- T:0.50WA 2

    HapMap Linkage Disequilibrium report for ALAS1 (52232102 - 52248343 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for ALAS1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv508926CNV Insertion20534489
    nsv876786CNV Loss21882294
    nsv834695CNV Loss17160897
    nsv460537CNV Loss19166990
    nsv876789CNV Loss21882294
    nsv508218CNV Loss20534489
    nsv470572CNV Loss18288195
    nsv834694CNV Gain17160897
    dgv5136n71CNV Gain21882294
    nsv519445CNV Gain+Loss19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ALAS1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
    About This Section

    OMIM gene information: 125290    OMIM disorders: --

    3 diseases for ALAS1:    
    About MalaCards
    x-linked sideroblastic anemia    acute porphyria    acute hepatic porphyria

    2 inferred disease relationships from the University of Copenhagen DISEASES database for ALAS1:
    Acute porphyria     Sideroblastic anemia

    Find genes that share disorders with ALAS1           About GenesLikeMe

    5 Novoseek inferred disease relationships for ALAS1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    anemia sideroblastic 91.8 11 1415186 (4), 8089650 (1), 7592563 (1), 10496043 (1) (see all 6)
    anemia congenital sideroblastic 81.5 1 15217771 (1)
    porphyria hepatic 81 2 11343251 (2)
    porphyria 73.4 2 10692079 (1), 2095458 (1)
    porphyria acute intermittent 72.6 1 2095458 (1)

    Genetic Association Database (GAD): ALAS1
    Human Genome Epidemiology (HuGE) Navigator: ALAS1 (8 documents)

    Export disorders for ALAS1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ALAS1 gene, integrated from 10 sources (see all 114) (see top 10):
    (articles sorted by number of sources associating them with ALAS1)

    1. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. Two different genes encode delta-aminolevulinate synthase in humans: nucleotide sequences of cDNAs for the housekeeping and erythroid genes. (PubMed id 2263504)1, 2 Bishop D.F. (Nucleic Acids Res. 1990)
    5. Sequence of human 5-aminolevulinate synthase cDNA. (PubMed id 3671094)1, 2 Bawden M.J....Elliott W.H. (Nucleic Acids Res. 1987)
    6. Human delta-aminolevulinate synthase: assignment of the housekeeping gene to 3p21 and the erythroid-specific gene to the X chromosome. (PubMed id 2347585)1, 9 Bishop D.F....Astrin K.H. (Genomics 1990)
    7. Conversion of 5-aminolevulinate synthase into a more active enzyme by linking the two subunits: spectroscopic and kinetic properties. (PubMed id 15840827)7, 9 Zhang J....Ferreira G.C. (Protein Sci. 2005)
    8. Functional analysis of the 5' regulatory region of the 5-aminolevulinate synthase (ALAS1) gene in response to estrogen. (PubMed id 19656447)1, 9 du Plessis N....Warnich L. (Cell. Mol. Biol. (Noisy-le-grand) 2009)
    9. Hepatic nuclear factor 3 and nuclear factor 1 regulate 5-aminolevulinate synthase gene expression and are involved in insulin repression. (PubMed id 15123725)1, 9 Scassa M.E....CA!nepa E.T. (J. Biol. Chem. 2004)
    10. Transient state kinetic investigation of 5-aminolevulinate synthase reaction mechanism. (PubMed id 12191993)7, 9 Zhang J. and Ferreira G.C. (J. Biol. Chem. 2002)
    11. Molecular regulation of 5-aminolevulinate synthase. Diseases related to heme biosynthesis. (PubMed id 2095458)1, 9 May B.K....Cox T.C. (amp 1990)
    12. Erythroid-specific 5-aminolevulinate synthase protein is stabilized by low oxygen and proteasomal inhibition. (PubMed id 16234850)1, 9 Abu-Farha M....Willmore W.G. (Biochem. Cell Biol. 2005)
    13. Inhibitory effect of AP-1 complex on 5-aminolevulinate synthase gene expression through sequestration of cAMP-response element protein (CRE)-binding protein (CBP) coactivator. (PubMed id 12433930)1, 9 Guberman A.S....CA!nepa E.T. (J. Biol. Chem. 2003)
    14. Alternative splicing and tissue-specific transcription of human and rodent ubiquitous 5-aminolevulinate synthase (ALAS1) genes. (PubMed id 11267664)1, 9 Roberts A.G. and Elder G.H. (Biochim. Biophys. Acta 2001)
    15. Assignment of the human housekeeping delta-aminolevulinate synthase gene (ALAS1) to chromosome band 3p21.1 by PCR analysis of somatic cell hybrids. (PubMed id 7698013)1, 9 Cotter P.D....Bishop D.F. (Cytogenet. Cell Genet. 1995)
    16. Differential regulation of human ALAS1 mRNA and protein levels by heme and cobalt protoporphyrin. (PubMed id 18719978)1, 9 Zheng J....Bonkovsky H.L. (Mol. Cell. Biochem. 2008)
    17. Histidine 282 in 5-aminolevulinate synthase affects substrate binding and catalysis. (PubMed id 17469798)7, 9 Turbeville T.D....Ferreira G.C. (Biochemistry 2007)
    18. Repression of 5-aminolevulinate synthase gene by the potent tumor promoter, TPA, involves multiple signal transduction pathways. (PubMed id 15797241)1, 9 Guberman A.S....CA!nepa E.T. (Arch. Biochem. Biophys. 2005)
    19. An alternatively-spliced exon in the 5'-UTR of human ALAS1 mRNA inhibits translation and renders it resistant to haem-mediated decay. (PubMed id 15710391)1, 9 Roberts A.G....Llewellyn D.H. (FEBS Lett. 2005)
    20. Down-regulation of aminolevulinate synthase, the rate-limiting enzyme for heme biosynthesis in Alzheimer's disease. (PubMed id 19477221)1, 9 Dwyer B.E....Zhu X. (Neurosci. Lett. 2009)
    21. Increased heme oxygenase-1 and decreased delta-aminolevulinate synthase expression in the liver of patients with acute liver failure. (PubMed id 15547665)1, 9 Fujii H....Morita K. (Int. J. Mol. Med. 2004)
    22. Mechanism of 5-aminolevulinate synthase and the role of the protein environment in controlling the cofactor chemistry. (PubMed id 12699240)7, 9 Ferreira G.C. and Zhang J.S. (Cell. Mol. Biol. (Noisy-le-grand) 2002)
    23. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    24. Genome-wide association analysis identifies 13 new risk loci for schizophrenia. (PubMed id 23974872)1 Ripke S....Sullivan P.F. (Nat. Genet. 2013)
    25. Nuclear receptor 5A (NR5A) family regulates 5-aminolevulinic acid synthase 1 (ALAS1) gene expression in steroidogenic cells. (PubMed id 23024262)1 Ju Y....Miyamoto K. (Endocrinology 2012)
    26. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    27. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. (PubMed id 21926972)1 (Nat. Genet. 2011)
    28. Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph. (PubMed id 21048031)1 Casabonne Sanjose S. (Haematologica 2011)
    29. A directed protein interaction network for investigating intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (Sci Signal 2011)
    30. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    31. Lon peptidase 1 (LONP1)-dependent breakdown of mitochondrial 5-aminolevulinic acid synthase protein by heme in human liver cells. (PubMed id 21659532)1 Tian Q....Bonkovsky H.L. (J. Biol. Chem. 2011)
    32. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    33. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)
    34. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (J. Biol. Chem. 2011)
    35. New genetic associations detected in a host response study to hepatitis B vaccine. (PubMed id 20237496)1 Davila S....Seielstad M. (Genes Immun. 2010)
    36. A genome-wide short hairpin RNA screening of jurkat T-cells for human proteins contributing to productive HIV-1 replication. (PubMed id 19460752)1 Yeung M.L....Jeang K.T. (J. Biol. Chem. 2009)
    37. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (Am. J. Hum. Genet. 2009)
    38. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)
    39. Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns. (PubMed id 17672918)1 Szafranski K....Platzer M. (Genome Biol. 2007)
    40. [Quantifying gene expression in prostate carcinoma. Which endogenous reference genes are suitable?]. (PubMed id 17628775)1 Jung M....Jung K. (Urologe A 2007)
    41. A germline-specific class of small RNAs binds mammalian Piwi proteins. (PubMed id 16751776)1 Girard A....Carmell M.A. (Nature 2006)
    42. A systematic analysis of human CHMP protein interactions: additional MIT domain-containing proteins bind to multiple components of the human ESCRT III complex. (PubMed id 16730941)1 Tsang H.T.H....Sanderson C.M. (Genomics 2006)
    43. Cloning, expression, and characterization of 5-aminolevulinic acid synthase from Rhodopseudomonas palustris KUGB306. (PubMed id 15251194)7 Choi H.P....Sung H.C. (FEMS Microbiol. Lett. 2004)
    44. PCR isolation and cloning of novel splice variant mRNAs from known drug target genes. (PubMed id 15028279)1 Jin P.... Stuve L.L. (Genomics 2004)
    45. Onset of X-linked sideroblastic anemia in the fourth decade. (PubMed id 15477213)1 CortesALo E....Tamagnini G. (Haematologica 2004)
    46. Redifferentiation of dedifferentiated chondrocytes and chondrogenesis of human bone marrow stromal cells via chondrosphere formation with expression profiling by large-scale cDNA analysis. (PubMed id 12878157)1 Imabayashi H.... Umezawa A. (Exp. Cell Res. 2003)
    47. Multiple mechanisms for hereditary sideroblastic anemia. (PubMed id 11929048)1 Furuyama K. and Sassa S. (Cell. Mol. Biol. (Noisy-le-grand) 2002)
    48. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    49. Circular permutation of 5-aminolevulinate synthase as a tool to evaluate folding, structure and function. (PubMed id 11929042)1 Ferreira G.C. and Cheltsov A.V. (Cell. Mol. Biol. (Noisy-le-grand) 2002)
    50. The solution structure and heme binding of the presequence of murine 5-aminolevulinate synthase. (PubMed id 11566198)1 Goodfellow B.J....Macedo A.L. (FEBS Lett. 2001)
    51. Regulation by heme of mitochondrial protein transport through a conserved amino acid motif. (PubMed id 8424176)1 Lathrop J.T. and Timko M.P. (Science 1993)
    52. Elevation of delta-aminolevulinic acid synthase and cytochrome PB1 P450 messenger RNA levels by dihydropyridines, dihydroquinolines, sydnones, and N-ethylprotoporphyrin IX. (PubMed id 1859461)9 Mackie J.E....Marks G.S. (Biochem. Pharmacol. 1991)
    53. 5-Aminolevulinate synthase in sideroblastic anemias: mRNA and enzyme activity levels in bone marrow cells. (PubMed id 1415186)9 Bottomley S.S....May B.K. (Am. J. Hematol. 1992)
    54. Peroxisome proliferator-activated receptor alpha controls hepatic heme biosynthesis through ALAS1. (PubMed id 19289130)9 Degenhardt T....Carlberg C. (J. Mol. Biol. 2009)
    55. Zinc mesoporphyrin represses induced hepatic 5-aminolevulinic acid synthase and reduces heme oxygenase activity in a mouse model of acute hepatic porphyria. (PubMed id 11343251)9 Schuurmans M.M....Meyer U.A. (Hepatology 2001)
    56. Alteration of mRNA levels of delta-aminolevulinic acid synthase, ferrochelatase and heme oxygenase-1 in griseofulvin induced protoporphyria mice. (PubMed id 10215191)9 Inafuku K....Nonaka S. (J. Dermatol. Sci. 1999)
    57. Regulation of human liver delta-aminolevulinic acid synthase by bile acids. (PubMed id 17975826)9 Peyer A.K....Meyer U.A. (Hepatology 2007)
    58. Phosphatidylinositol 3-kinase and Ras/mitogen-activated protein kinase signaling pathways are required for the regulation of 5-aminolevulinate synthase gene expression by insulin. (PubMed id 11716532)9 Scassa M.E....CA!nepa E.T. (Exp. Cell Res. 2001)
    59. Superinduction by cycloheximide of cytochrome P4502H1 and 5-aminolevulinate synthase gene transcription in chick embryo liver. (PubMed id 7678728)9 Dogra S.C....May B.K. (Arch. Biochem. Biophys. 1993)
    60. Crystal structure of 5-aminolevulinate synthase, the first enzyme of heme biosynthesis, and its link to XLSA in humans. (PubMed id 16121195)9 Astner I....Heinz D.W. (EMBO J. 2005)
    61. Identification of the xenosensors regulating human 5-aminolevulinate synthase. (PubMed id 15178759)9 Podvinec M....Meyer U.A. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    62. Mechanism of the synergistic induction of CYP2H by isopentanol plus ethanol: comparison to glutethimide and relation to induction of 5-aminolevulinate synthase. (PubMed id 9851836)9 Louis C.A....Sinclair J.F. (Arch. Biochem. Biophys. 1998)
    63. The role of heme in gene expression. (PubMed id 8936331)9 Sassa S. and Nagai T. (Int. J. Hematol. 1996)
    64. Human erythroid 5-aminolevulinate synthase: promoter analysis and identification of an iron-responsive element in the mRNA. (PubMed id 2050125)9 Cox T.C.... May B.K. (EMBO J. 1991)
    65. Heme as a magnificent molecule with multiple missions: heme determines its own fate and governs cellular homeostasis. (PubMed id 17785948)9 Furuyama K....Vargas P.D. (Tohoku J. Exp. Med. 2007)
    66. Gene expression studies in prostate cancer tissue: which reference gene should be selected for normalization? (PubMed id 16211407)9 Ohl F....Jung K. (J. Mol. Med. 2005)
    67. Induction of 5-aminolevulinate synthase by drugs is independent of increased apocytochrome P450 synthesis. (PubMed id 8806606)9 Jover R....Meyer U.A. (Biochem. Biophys. Res. Commun. 1996)
    68. The effect of short-time active listening training. (PubMed id 20168051)9 Tatsumi A....Sano Y. (Sangyo Eiseigaku Zasshi 2010)
    69. (Far) Outside the box: genomic approach to acute porphyria. (PubMed id 17298222)9 Thunell S. (Physiol Res 2006)
    70. Interaction between succinyl CoA synthetase and the heme-biosynthetic enzyme ALAS-E is disrupted in sideroblastic anemia. (PubMed id 10727444)9 Furuyama K. and Shigeru S. (J. Clin. Invest. 2000)
    71. Heme biosynthesis by the malarial parasite. Import of delta-aminolevulinate dehydrase from the host red cell. (PubMed id 9268315)9 Bonday Z.Q....Padmanaban G. (J. Biol. Chem. 1997)
    72. Molecular mechanism of heme biosynthesis. (PubMed id 9526800)9 Fujita H. (Tohoku J. Exp. Med. 1997)
    73. Control of hemoglobin synthesis in erythroid differentiating K562 cells. I. Role of iron in erythroid cell heme synthesis. (PubMed id 8645006)9 Kawasaki N....Hayakawa T. (Arch. Biochem. Biophys. 1996)
    74. [Molecular regulation of heme biosynthesis]. (PubMed id 7616645)9 Fujita H....Takagawa M. (Nippon Rinsho 1995)
    75. Reference gene selection for head and neck squamous cell carcinoma gene expression studies. (PubMed id 19650912)9 Lallemant B....Brouillet J.P. (BMC Mol. Biol. 2009)
    76. [Effectiveness of mental health training including active listening for managers]. (PubMed id 18552457)9 Ikegami K....Nagata S. (Sangyo Eiseigaku Zasshi 2008)
    77. Effects of repeated administration with CP-55,940, a cannabinoid CB1 receptor agonist on the metabolism of the hepatic heme. (PubMed id 15896668)9 Fontanellas A....EnrA-quez de Salamanca R. (amp 2005)
    78. Examination of mitochondrial protein targeting of haem synthetic enzymes: in vivo identification of three functional haem-responsive motifs in 5-aminolaevulinate synthase. (PubMed id 15482256)9 Dailey T.A....Dailey H.A. (Biochem. J. 2005)
    79. [Progress of study on sideroblastic anemia and its possible gene therapy--review]. (PubMed id 15972158)9 Wang Y.Q. and Zhu P. (Zhongguo Shi Yan Xue Ye Xue Za Zhi 2005)
    80. [Delta-aminolevulinate synthase (ALAS)]. (PubMed id 15628518)9 Kondo M. (Nippon Rinsho 2004)
    81. A study of the effects of active listening on listening attitudes of middle managers. (PubMed id 14960831)9 Kubota S....Nagata S. (J Occup Health 2004)
    82. Reciprocal regulation of haem biosynthesis and the circadian clock in mammals. (PubMed id 15269772)9 Kaasik K. and Lee C.C. (Nature 2004)
    83. 5-Aminolevulinic acid synthase: mechanism, mutations and medicine. (PubMed id 12686158)9 Shoolingin-Jordan P.M....Wang S.F. (Biochim. Biophys. Acta 2003)
    84. Regulation of erythroid 5-aminolevulinate synthase expression during erythropoiesis. (PubMed id 10582344)9 Sadlon T.J....May B.K. (amp 1999)
    85. [X-linked sideroblastic anemia]. (PubMed id 10483144)9 Muramatsu M....Urabe A. (Rinsho Ketsueki 1999)
    86. [delta-Aminolevulinate synthase (ALAS)]. (PubMed id 10543122)9 Kondo M. (Nippon Rinsho 1999)
    87. [An infant case of sideroblastic anemia that responded to oral pyridoxine]. (PubMed id 10496043)9 Kudo K....Kojima S. (Rinsho Ketsueki 1999)
    88. X-linked sideroblastic anaemia due to a mutation in the erythroid 5-aminolaevulinate synthase gene leading to an arginine170 to leucine substitution. (PubMed id 9688293)9 Edgar A.J....Wickramasinghe S.N. (Eur. J. Haematol. 1998)
    89. R411C mutation of the ALAS2 gene encodes a pyridoxine-responsive enzyme with low activity. (PubMed id 9858242)9 Furuyama K.... Yamamoto M. (Br. J. Haematol. 1998)
    90. Control of hemoglobin synthesis in erythroid differentiating K562 cells. II. Studies of iron mobilization in erythroid cells by high-performance liquid chromatography-electrochemical detection. (PubMed id 9521555)9 Kawasaki N....Hayakawa T. (J. Chromatogr. B Biomed. Sci. Appl. 1998)
    91. Tissue-specific stability of nuclear- and mitochondrially encoded mRNAs. (PubMed id 8806759)9 Connor M.K....Hood D.A. (Arch. Biochem. Biophys. 1996)
    92. Molecular regulation--biological role of heme in hematopoiesis. (PubMed id 2032026)9 Abraham N.G. (Blood Rev. 1991)
    93. Guide to drug porphyrogenicity prediction and drug prescription in the acute porphyrias. (PubMed id 17578481)9 Thunell S....Brun A. (Br J Clin Pharmacol 2007)
    94. Supervisors' attitudes and skills for active listening with regard to working conditions and psychological stress reactions among subordinate workers. (PubMed id 17429164)9 Mineyama S....Kawakami N. (J Occup Health 2007)
    95. Identification and validation of suitable endogenous reference genes for gene expression studies of human bladder cancer. (PubMed id 16600798)9 Ohl F....Jung K. (J. Urol. 2006)
    96. Up-regulation of heme biosynthesis during differentiation of Neuro2a cells. (PubMed id 16567402)9 Shinjyo N. and Kita K. (J. Biochem. 2006)
    97. On the selectivity of 5-aminolevulinic acid-induced protoporphyrin IX formation. (PubMed id 15134506)9 Collaud S....Lange N. (Curr Med Chem Anticancer Agents 2004)
    98. Enzymes for heme biosynthesis are found in both the mitochondrion and plastid of the malaria parasite Plasmodium falciparum. (PubMed id 15144063)9 Sato S....Wilson R.J. (Protist 2004)
    99. [Hereditary sideroblastic anemia: a rare diagnosis]. (PubMed id 15217771)9 Brahem-Jmili N....Kortas M. (Ann. Biol. Clin. (Paris) 2004)
    100. Circular permutation of 5-aminolevulinate synthase: effect on folding, conformational stability, and structure. (PubMed id 12736261)9 Cheltsov A.V....Ferreira G.C. (J. Biol. Chem. 2003)
    101. Porphyrins, porphyrin metabolism and porphyrias. I. Update. (PubMed id 11202048)9 Thunell S. (Scand. J. Clin. Lab. Invest. 2000)
    102. Molecular aspects of the inherited porphyrias. (PubMed id 10692079)9 Sassa S. and Kappas A. (J. Intern. Med. 2000)
    103. A novel mutation of the erythroid-specific delta-aminolaevulinate synthase gene in a patient with X-linked sideroblastic anaemia. (PubMed id 10444183)9 Harigae H....Sasaki T. (Br. J. Haematol. 1999)
    104. Hereditary sideroblastic anaemia due to a mutation in exon 10 of the erythroid 5-aminolaevulinate synthase gene. (PubMed id 9488633)9 Edgar A.J. and Wickramasinghe S.N. (Br. J. Haematol. 1998)
    105. Transcriptional regulation of the human erythroid 5-aminolevulinate synthase gene. Identification of promoter elements and role of regulatory proteins. (PubMed id 9334239)9 Surinya K.H....May B.K. (J. Biol. Chem. 1997)
    106. Mutations at a glycine loop in aminolevulinate synthase affect pyridoxal phosphate cofactor binding and catalysis. (PubMed id 8916896)9 Gong J....Ferreira G.C. (Biochemistry 1996)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 211 HGNC: 396 AceView: ALAS1 Ensembl:ENSG00000023330 euGenes: HUgn211
    ECgene: ALAS1 Kegg: 211 H-InvDB: ALAS1

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    PharmGKB entry for ALAS1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ALAS1 gene:
    Search GeneIP for patents involving ALAS1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search

    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, GeneTex, and/or others, Clones from OriGene, GenScript, Sino Biological, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway and/or Taconic Biosciences,
    CRISPR knockouts from OriGene)
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     EMD Millipore genomic analysis products

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