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    ALKBH1 alkB homolog 1, histone H2A dioxygenase [ Homo sapiens (human) ]

    Gene ID: 8846, updated on 7-Feb-2016
    Official Symbol
    ALKBH1provided by HGNC
    Official Full Name
    alkB homolog 1, histone H2A dioxygenaseprovided by HGNC
    Primary source
    HGNC:HGNC:17911
    See related
    Ensembl:ENSG00000100601; MIM:605345; Vega:OTTHUMG00000171542
    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
    ABH; ABH1; alkB; hABH; ALKBH
    Summary
    This gene encodes a homolog to the E. coli alkB gene product. The E. coli alkB protein is part of the adaptive response mechanism of DNA alkylation damage repair. It is involved in damage reversal by oxidative demethylation of 1-methyladenine and 3-methylcytosine. [provided by RefSeq, Jul 2008]
    Orthologs
    See ALKBH1 in Epigenomics, MapViewer
    Location:
    14q24.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 14 NC_000014.9 (77672406..77708032, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (78138749..78174365, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene isthmin 2 Neighboring gene serine palmitoyltransferase long chain base subunit 2 Neighboring gene ribosomal protein L21 pseudogene 10 Neighboring gene zinc finger, MYND-type containing 19 pseudogene 1 Neighboring gene SRA stem-loop interacting RNA binding protein Neighboring gene SNW domain containing 1 Neighboring gene chromosome 14 open reading frame 178

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of prognosis in advanced non-small cell lung cancer patients receiving platinum-based chemotherapy.
    NHGRI GWA Catalog
    • Integrated Breast Cancer Pathway, organism-specific biosystem (from WikiPathways)
      Integrated Breast Cancer Pathway, organism-specific biosystemThis pathway incorporates the most important proteins for Breast Cancer. The Rp score from the Connectivity-Maps (C-Maps) webserver was used to determine the rank of the most important proteins in Br...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA-(apurinic or apyrimidinic site) lyase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ferrous iron binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    methylcytosine dioxygenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA dealkylation involved in DNA repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA demethylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    RNA repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    oxidative demethylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    DNA oxidative demethylase ALKBH1
    Names
    DNA lyase ABH1
    alkB, alkylation repair homolog 1
    alkylated DNA repair protein alkB homolog 1
    alkylation repair, alkB homolog
    alpha-ketoglutarate-dependent dioxygenase ABH1
    NP_006011.2

    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.

    mRNA and Protein(s)

    1. NM_006020.2NP_006011.2  DNA oxidative demethylase ALKBH1

      See identical proteins and their annotated locations for NP_006011.2

      Status: REVIEWED

      Source sequence(s)
      AC008044, BC015024, BC025787
      Consensus CDS
      CCDS32127.1
      UniProtKB/Swiss-Prot
      Q13686
      UniProtKB/TrEMBL
      Q5XKL0
      Related
      ENSP00000216489, OTTHUMP00000246383, ENST00000216489, OTTHUMT00000414037
      Conserved Domains (1) summary
      TIGR00568
      Location:119289
      alkb; DNA alkylation damage repair protein AlkB

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p2 Primary Assembly

      Range
      77672406..77708032 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005268165.3XP_005268222.1  

      Conserved Domains (1) summary
      cl21496
      Location:119182
      2OG-FeII_Oxy; 2OG-Fe(II) oxygenase superfamily

    Alternate CHM1_1.1

    Genomic

    1. NC_018925.2 Alternate CHM1_1.1

      Range
      78078214..78113828 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001039506.1: Suppressed sequence

      Description
      NM_001039506.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.