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

Gene ID: 8574, updated on 8-Dec-2018

Summary

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
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

Genomic context

See AKR7A2 in Genome Data Viewer
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

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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 

General protein information

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

NCBI Reference Sequences (RefSeq)

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, ENST00000330072.9
    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, ENST00000235835.7
    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

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

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