Format

Send to:

Choose Destination
    • Showing Current items.

    AKR7A2 aldo-keto reductase family 7 member A2 [ Homo sapiens (human) ]

    Gene ID: 8574, updated on 8-Apr-2018
    Official Symbol
    AKR7A2provided by HGNC
    Official Full Name
    aldo-keto reductase family 7 member A2provided by HGNC
    Primary source
    HGNC:HGNC:389
    See related
    Ensembl:ENSG00000053371 MIM:603418; Vega:OTTHUMG00000002522
    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
    AFAR; AKR7; AFAR1; AFB1-AR1
    Summary
    The protein encoded by this gene belongs to the aldo/keto reductase (AKR) superfamily and AKR7 family, which are involved in the detoxification of aldehydes and ketones. The AKR7 family consists of 3 genes that are present in a cluster on the p arm of chromosome 1. This protein, thought to be localized in the golgi, catalyzes the NADPH-dependent reduction of succinic semialdehyde to the endogenous neuromodulator, gamma-hydroxybutyrate. It may also function as a detoxication enzyme in the reduction of aflatoxin B1 and 2-carboxybenzaldehyde. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
    Expression
    Ubiquitous expression in kidney (RPKM 26.6), duodenum (RPKM 20.0) and 25 other tissues See more
    Orthologs
    Location:
    1p36.13
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (19302708..19312146, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (19629202..19638640, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene aldo-keto reductase family 7 member A3 Neighboring gene uncharacterized LOC100506730 Neighboring gene RNA, U6 small nuclear 1099, pseudogene Neighboring gene PQ loop repeat containing 2 Neighboring gene capping actin protein of muscle Z-line subunit beta Neighboring gene RNA, 7SL, cytoplasmic 277, pseudogene

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    alditol:NADP+ 1-oxidoreductase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    aldo-keto reductase (NADP) activity TAS
    Traceable Author Statement
    more info
     
    electron transfer activity TAS
    Traceable Author Statement
    more info
    PubMed 
    phenanthrene-9,10-epoxide hydrolase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    carbohydrate metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular aldehyde metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    daunorubicin metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    doxorubicin metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    electron transport chain IEA
    Inferred from Electronic Annotation
    more info
     
    xenobiotic metabolic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome HDA PubMed 
    Preferred Names
    aflatoxin B1 aldehyde reductase member 2
    Names
    AFB1 aldehyde reductase 1
    AFB1-AR 1
    HEL-S-166mP
    SSA reductase
    aflatoxin aldehyde reductase
    aflatoxin beta1 aldehyde reductase
    aldoketoreductase 7
    epididymis secretory sperm binding protein Li 166mP
    succinic semialdehyde reductase
    NP_001307908.1
    NP_003680.2

    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_001320979.1NP_001307908.1  aflatoxin B1 aldehyde reductase member 2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AK303131, AL035413, BG386786, BX401279
      UniProtKB/TrEMBL
      B4DZX4
      Related
      ENSP00000339084.4, OTTHUMP00000215517, ENST00000330072.9, OTTHUMT00000355679
      Conserved Domains (2) summary
      cd06660
      Location:26311
      Aldo_ket_red; Aldo-keto reductases (AKRs) are a superfamily of soluble NAD(P)(H) oxidoreductases whose chief purpose is to reduce aldehydes and ketones to primary and secondary alcohols. AKRs are present in all phyla and are of importance to both health and industrial ...
      COG0667
      Location:42320
      Tas; Predicted oxidoreductase (related to aryl-alcohol dehydrogenase) [General function prediction only]
    2. NM_003689.3NP_003680.2  aflatoxin B1 aldehyde reductase member 2 isoform 1

      See identical proteins and their annotated locations for NP_003680.2

      Status: REVIEWED

      Source sequence(s)
      AL035413
      Consensus CDS
      CCDS194.1
      UniProtKB/Swiss-Prot
      O43488
      UniProtKB/TrEMBL
      V9HWA2
      Related
      ENSP00000235835.3, OTTHUMP00000002622, ENST00000235835.7, OTTHUMT00000007165
      Conserved Domains (2) summary
      cd06660
      Location:26346
      Aldo_ket_red; Aldo-keto reductases (AKRs) are a superfamily of soluble NAD(P)(H) oxidoreductases whose chief purpose is to reduce aldehydes and ketones to primary and secondary alcohols. AKRs are present in all phyla and are of importance to both health and industrial ...
      COG0667
      Location:42355
      Tas; Predicted oxidoreductase (related to aryl-alcohol dehydrogenase) [General function prediction only]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

      Range
      19302708..19312146 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_946785.2 RNA Sequence

    Support Center