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ALAS1 Gene

protein-coding   GIFtS: 65
GCID: GC03P052207

Aminolevulinate, Delta-, Synthase 1


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

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Aminolevulinate, Delta-, Synthase 11 2     ALASH2 3
ALAS31 2 3     EC 2.3.1.373 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 identifers: GC03P051324 GC03P051484 GC03P052088 GC03P052190


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

Epigenetics:
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)

Start:
52,232,102 bp from pter      End:
52,248,343 bp from pter
Size:
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, and/or antibodies-online,
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 others.)
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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)
     IFRHNDV  VHSMDGA  IYVQAIN  PKIVAFE 


    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  
     ENSP00000419423  
    Reactome Protein details: P13196

    ALAS1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for ALAS1

     
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    antibodies-online proteins for ALAS1 (5 products) 

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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,
    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, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, 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.)
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    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 2.3.1.371 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


    Phenotypes:
         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

    miRNA
    Products:
        
    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
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    Inhib. RNA
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    Gene Editing
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    Browse Sino Biological Human cDNA Clones
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    HEM1_HUMAN, P13196: Mitochondrion matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    nucleus4
    cytosol3

    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 GeneDecks, 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).
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    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
    2Metabolism
    Metabolism0.38
    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

    Interactions:

        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)
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    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, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ALAS1 gene (2 alternative transcripts): 
    NM_000688.5  NM_199166.2  

    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
    miRNA
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      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 
    Y00451.1 

    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

    7 Alternative Splicing Database (ASD) splice patterns (SP) for ALAS1 (see first 5)    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:                                -     -                                                                                       
    SP6:                          -     -                                                                                             
    SP7:                                                                                                                              


    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 GeneDecks, 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)
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    ALAS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACCTCAATTA
    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)
             Oviduct
    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

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    (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)
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    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
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Alas11 , 5 aminolevulinic acid synthase 11, 5 87.5(n)1
    91.72(a)1
      9 (57.46 cM)5
    116551  NM_020559.21  NP_065584.21 
     1062334555 
    chicken
    (Gallus gallus)
    Aves ALAS11 aminolevulinate, delta-, synthase 1 76.57(n)
    84.04(a)
      552895  NM_001018012.1  NP_001018012.1 
    lizard
    (Anolis carolinensis)
    Reptilia ALAS16
    aminolevulinate, delta-, synthase 1
    85(a)
    1 ↔ 1
    2(153543874-153558592)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC687002 hypothetical protein MGC68700 76.74(n)    BC059988.1 
    zebrafish
    (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...
    36(a)
    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 4Pseudogene.org Build 68)
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    Paralogs for ALAS1 gene
    GCAT2  ALAS22  
    1 SIMAP similar gene for ALAS1 using alignment to 4 protein entries:     HEM1_HUMAN (see all proteins):
    ALAS2

    Find genes that share paralogs with ALAS1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for ALAS1
    PGOHUM00000239424


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, 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)
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    Selected SNPs for ALAS1 (see all 383)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1145456711,2
    --52230123(+) AGTTGC/TTTACA 2 -- us2k10--------
    rs1868705561,2
    --52230319(+) CAAGCC/TTTGAA 2 -- us2k10--------
    rs576849561,2
    C--52230370(+) CTGGG-/GTTTGA 2 -- us2k10--------
    rs1049021,2
    C,F,A--52230440(+) CCCCCA/CAAAAA 2 -- us2k13Minor allele frequency- C:0.06NA WA 122
    rs1049031,2
    C,F,A--52230475(+) gctcaA/Tgccta 2 -- us2k19Minor allele frequency- T:0.41NA WA EA 370
    rs1917616701,2
    --52230509(+) GAGGGC/TGATCA 2 -- us2k10--------
    rs1473387251,2
    --52230641(+) GAATCA/GCTTGA 2 -- us2k10--------
    rs1487116571,2
    --52230669(+) TGCAGC/TGAGCC 2 -- us2k10--------
    rs1165357031,2
    C,F--52230786(+) CAGGGA/TTTATG 2 -- us2k11Minor allele frequency- T:0.04WA 118
    rs600979541,2
    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
    DNA2.0 Custom Variant and Variant Library Synthesis for 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.)
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    OMIM gene information: 125290    OMIM disorders: --

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

    2 diseases 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)
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    PubMed articles for ALAS1 gene, integrated from 10 sources (see all 114):
    (articles sorted by number of sources associating them with ALAS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    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)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (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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    NameDescription
    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



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