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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ALAS1 Gene

protein-coding   GIFtS: 66
GCID: GC03P052207

aminolevulinate, delta-, synthase 1


(Previous symbols: ALAS3, ALAS)
 Explore 24 diseases affiliated with
ALAS1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ALAS1    

Aliases
for ALAS1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
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


Summaries
for ALAS1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for ALAS1:
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)

Gene Wiki entry for ALAS1


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_022517.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ALAS1 gene promoter:
         AP-1   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ALAS1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ALAS1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for ALAS1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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
Subcellular location: Mitochondrion matrix
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P13196

    • 4/28 DME Specific Peptides for ALAS1 (P13196) (see all 28)
     IFRHNDV  VHSMDGA  IYVQAIN  PKIVAFE 

    ALAS1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000417719   ENSP00000378416   ENSP00000309259   ENSP00000418779   ENSP00000417352  
     ENSP00000419423  
    Reactome Protein details: P13196
    Human Recombinant Protein Products: 
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    Uscn Proteins for ALAS1

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    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--


    ALAS1 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for ALAS1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ALAS1 for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR004839 Aminotransferase_I/II
     IPR015424 PyrdxlP-dep_Trfase
     IPR010961 4pyrrol_synth_NH2levulA_synth
     IPR015118 5aminolev_synth_preseq
     IPR001917 Aminotrans_II_pyridoxalP_BS

    Graphical View of Domain Structure for InterPro Entry P13196

    ProtoNet protein and cluster: P13196

    2 Blocks protein families:
    IPB001917 Aminotransferase
    IPB004839 Aminotransferase


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


    Function
    for ALAS1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
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    Inhib. RNA
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    Gene Editing
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    Clone
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00038705-aminolevulinate synthase activity IEA--
    GO:0030170pyridoxal phosphate binding IEA--


    ALAS1 for ontologies           About GeneDecksing


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

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

    ALAS1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for ALAS1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1heme biosynthesis II
    		heme biosynthesis II1.00
    		tetrapyrrole biosynthesis II0.57
    		Heme biosynthesis0.78
    		Metabolism of porphyrins0.50
    		Heme Biosynthesis0.78
    2Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
    		Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)1.00
    		Fatty acid, triacylglycerol, and ketone body metabolism0.52
    		PPARA Activates Gene Expression0.74
    3Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    		Metabolic pathways0.38
    4Expression of ALAS1
    		Expression of ALAS11.00
    5FOXA2 and FOXA3 transcription factor networks
    		FOXA2 and FOXA3 transcription factor networks1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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

    5/8        Reactome Pathways for ALAS1 (see all 8)
        Expression of ALAS1
    Heme biosynthesis
    Metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism
    Metabolism of porphyrins


    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 metabolism; protoporphyrin-IX biosynthesis; 5-aminolevulinate from glycine: step 1/1


    ALAS1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ALAS1

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

    5/42 Interacting proteins for ALAS1 (P131962, 3 ENSP000003092594) via UniProtKB, MINT, STRING, and/or I2D (see all 42)

    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): 5 biological process terms (GO ID links to tree view):    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:0044255cellular lipid metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--


    ALAS1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ALAS1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ALAS1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ALAS1

    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

    10/17 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about ALAS1 / HEM1 

    Transcripts
    for ALAS1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    About This Section
    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

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    Inhib. RNA
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    Clone
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    Additional cDNA 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 

    24/369 AceView cDNA sequences (see all 369):

    AA099824 BI823187 BX423854 CA306408 BM993790 CA388886 CN479671 BI334617 
    CD367952 F02941 F11258 BM712574 F06671 BM561578 BQ439004 BG826691 
    CF272420 BU931795 AA897693 BQ021481 CA392829 AL555603 AI092380 BP364914 

    GeneLoc Exon Structure

    5/7 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

    Expression
    for ALAS1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, 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
    CGAP TAG: ACCTCAATTA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ALAS1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    TestisTestis InterstitiumTestis
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ALAS1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ALAS1

    SOURCE GeneReport for Unigene cluster: Hs.476308
        SABiosciences Expression via Pathway-Focused PCR Arrays including ALAS1: 
              Amino Acid Metabolism II in human mouse rat
              Circadian Rhythms in human mouse rat

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    In Situ
    Assay Products:     
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    Orthologs
    for ALAS1 gene

    (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.

    Orthologs for ALAS1 gene from 5/25 species (see all 25)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 83(a)
    		 1 ↔ 1
    		 2(153545162-153555508)
    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   --


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

    Paralogs
    for ALAS1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ALAS1 gene
    ALAS22  GCAT2  
    1 SIMAP similar gene for ALAS1 using alignment to 4 protein entries:     HEM1_HUMAN     Q5JAM2_HUMAN     H7C5B0_HUMAN     H7C4H7_HUMAN(see first protein):
    ALAS2

    ALAS1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ALAS1
    PGOHUM00000239424


    Genomic Variants
    for ALAS1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/294 NCBI SNPs in ALAS1 are shown (see all 294)     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--------
    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
    rs1414334631,2
    		--52230884(+) CTTGGG/TTCCAA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for ALAS1 (52232102 - 52248343 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for ALAS1
         2 CNVs: 51113 4337

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    Disorders / Diseases
    for ALAS1 gene

    (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.)
    About This Section
    ALAS1 for disorders           About GeneDecksing

    OMIM gene information: 125290    OMIM disorders: --

    20/24 diseases for ALAS1 (see all 24):    About MalaCards
    x-linked sideroblastic anemia    porphyria    sideroblastic anemia    enterocele
    acute hepatic porphyria    acute liver failure    amebiasis    aplastic anemia
    acute porphyria    anemia    chronic lymphocytic leukemia    lymphocytic leukemia
    hepatitis b    hepatitis    hematopoiesis    alzheimer's disease
    prostate carcinoma    leukemia    prostatitis    prostate cancer

    2 diseases from the University of Copenhagen DISEASES database for ALAS1:
    Acute porphyria     Sideroblastic anemia

    5 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: ALAS1 (8 documents)

    Export disorders for ALAS1 gene to outside databases

    Publications
    for ALAS1 gene

    (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 9 sources (see all 108):
    (articles sorted by number of sources associating them with ALAS1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (2004)
    2. 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. (1990)
    3. Sequence of human 5-aminolevulinate synthase cDNA. (PubMed id 3671094)1, 2 Bawden M.J....Elliott W.H. (1987)
    4. 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. (1990)
    5. 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. (2005)
    6. 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....Canepa E.T. (2004)
    7. Transient state kinetic investigation of 5-aminolevulinate synthase reaction mechanism. (PubMed id 12191993)7, 9 Zhang J. and Ferreira G.C. (2002)
    8. Molecular regulation of 5-aminolevulinate synthase. Diseases related to heme biosynthesis. (PubMed id 2095458)1, 9 May B.K....Cox T.C. (1990)
    9. 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. (2005)
    10. 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....Canepa E.T. (2003)

    External Searches for ALAS1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing ALAS1 gene

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

    Other Databases showing ALAS1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ALAS1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ALAS1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for ALAS1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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