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    ALAS2 5'-aminolevulinate synthase 2 [ Homo sapiens (human) ]

    Gene ID: 212, updated on 8-Jul-2021

    Summary

    Official Symbol
    ALAS2provided by HGNC
    Official Full Name
    5'-aminolevulinate synthase 2provided by HGNC
    Primary source
    HGNC:HGNC:397
    See related
    Ensembl:ENSG00000158578 MIM:301300
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ASB; ANH1; XLSA; ALASE; XLDPP; XLEPP; ALAS-E; SIDBA1
    Summary
    The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward bone marrow (RPKM 181.6) See more
    Orthologs
    NEW
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    Genomic context

    See ALAS2 in Genome Data Viewer
    Location:
    Xp11.21
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (55009055..55030977, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (55035488..55057410, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 Neighboring gene Sharpr-MPRA regulatory regions 2439 and 5762 Neighboring gene ALAS2 intronic erythroid enhancer Neighboring gene apurinic/apyrimidinic endodeoxyribonuclease 2 Neighboring gene ALAS2 intron 1 and 3 erythroid regulatory elements Neighboring gene PAGE family member 2B Neighboring gene HDGFL3 pseudogene 1 Neighboring gene PAGE family member 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ93603

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 5-aminolevulinate synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables 5-aminolevulinate synthase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables pyridoxal phosphate binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in cellular iron ion homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in erythrocyte development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in erythrocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in erythrocyte differentiation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in heme biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in heme biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in heme biosynthetic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in hemoglobin biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in hemoglobin biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in oxygen homeostasis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in protoporphyrinogen IX biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to hypoxia IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    5-aminolevulinate synthase, erythroid-specific, mitochondrial
    Names
    5-aminolevulinic acid synthase 2
    aminolevulinate, delta-, synthase 2
    delta-ALA synthase 2
    delta-ALA synthetase
    delta-aminolevulinate synthase 2
    NP_000023.2
    NP_001033056.1
    NP_001033057.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008983.1 RefSeqGene

      Range
      5088..27010
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1163

    mRNA and Protein(s)

    1. NM_000032.5NP_000023.2  5-aminolevulinate synthase, erythroid-specific, mitochondrial isoform a precursor

      See identical proteins and their annotated locations for NP_000023.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AK313118, BQ182291
      Consensus CDS
      CCDS14366.1
      UniProtKB/Swiss-Prot
      P22557
      Related
      ENSP00000497236.1, ENST00000650242.1
      Conserved Domains (3) summary
      COG0156
      Location:143534
      BioF; 7-keto-8-aminopelargonate synthetase or related enzyme [Coenzyme transport and metabolism]
      TIGR01821
      Location:143548
      5aminolev_synth; 5-aminolevulinic acid synthase
      pfam09029
      Location:5100
      Preseq_ALAS; 5-aminolevulinate synthase presequence
    2. NM_001037967.4NP_001033056.1  5-aminolevulinate synthase, erythroid-specific, mitochondrial isoform b precursor

      See identical proteins and their annotated locations for NP_001033056.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
      Source sequence(s)
      AK291589, BQ182291
      Consensus CDS
      CCDS35303.1
      UniProtKB/Swiss-Prot
      P22557
      Related
      ENSP00000337131.4, ENST00000335854.8
      Conserved Domains (3) summary
      COG0156
      Location:106497
      BioF; 7-keto-8-aminopelargonate synthetase or related enzyme [Coenzyme transport and metabolism]
      TIGR01821
      Location:106511
      5aminolev_synth; 5-aminolevulinic acid synthase
      pfam09029
      Location:5100
      Preseq_ALAS; 5-aminolevulinate synthase presequence
    3. NM_001037968.4NP_001033057.1  5-aminolevulinate synthase, erythroid-specific, mitochondrial isoform c precursor

      See identical proteins and their annotated locations for NP_001033057.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, has an additional 5' exon resulting in an alternate start codon, and lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (c) is shorter but has a longer and distinct N-terminus, compared to isoform a.
      Source sequence(s)
      AL020991, BP233279, BQ182291
      Consensus CDS
      CCDS43960.1
      UniProtKB/Swiss-Prot
      P22557
      Related
      ENSP00000379501.3, ENST00000396198.7
      Conserved Domains (3) summary
      COG0156
      Location:130521
      BioF; 7-keto-8-aminopelargonate synthetase or related enzyme [Coenzyme transport and metabolism]
      TIGR01821
      Location:130535
      5aminolev_synth; 5-aminolevulinic acid synthase
      pfam09029
      Location:29124
      Preseq_ALAS; 5-aminolevulinate synthase presequence

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

      Range
      55009055..55030977 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001037969.2: Suppressed sequence

      Description
      NM_001037969.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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