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AKR7A3 aldo-keto reductase family 7 member A3 [ Homo sapiens (human) ]

Gene ID: 22977, updated on 23-Nov-2023

Summary

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Official Symbol
AKR7A3provided by HGNC
Official Full Name
aldo-keto reductase family 7 member A3provided by HGNC
Primary source
HGNC:HGNC:390
See related
Ensembl:ENSG00000162482 MIM:608477; AllianceGenome:HGNC:390
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AFAR2
Summary
Aldo-keto reductases, such as AKR7A3, are involved in the detoxification of aldehydes and ketones.[supplied by OMIM, Apr 2004]
Expression
Biased expression in duodenum (RPKM 81.0), small intestine (RPKM 50.3) and 6 other tissues See more
Orthologs
all
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Genomic context

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See AKR7A3 in Genome Data Viewer
Location:
1p36.13
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (19274229..19288770, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (19097755..19112298, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (19609067..19615264, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:19577931-19578436 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19580253-19580754 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19580755-19581254 Neighboring gene MRT4 homolog, ribosome maturation factor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19595541-19596389 Neighboring gene aldo-keto reductase family 7 like (gene/pseudogene) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19610121-19610996 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:19614497-19615319 Neighboring gene uncharacterized LOC124903867 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:19615320-19616141 Neighboring gene uncharacterized LOC100506730 Neighboring gene RNA, U6 small nuclear 1099, pseudogene Neighboring gene aldo-keto reductase family 7 member A2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. cDNA cloning, expression and activity of a second human aflatoxin B1-metabolizing member of the aldo-keto reductase superfamily, AKR7A3. Knight LP, et al. Carcinogenesis, 1999 Jul. PMID 10383892
  2. Aldo-Keto Reductases as Early Biomarkers of Hepatocellular Carcinoma: A Comparison Between Animal Models and Human HCC. Torres-Mena JE, et al. Dig Dis Sci, 2018 Apr. PMID 29383608
  3. Aflatoxin B1 aldehyde reductase (AFAR) genes cluster at 1p35-1p36.1 in a region frequently altered in human tumour cells. Praml C, et al. Oncogene, 2003 Jul 24. PMID 12879023
  4. Genome-wide YFP fluorescence complementation screen identifies new regulators for telomere signaling in human cells. Lee OH, et al. Mol Cell Proteomics, 2011 Feb. PMID 21044950, Free PMC Article
  5. A Large-scale genetic association study of esophageal adenocarcinoma risk. Liu CY, et al. Carcinogenesis, 2010 Jul. PMID 20453000, Free PMC Article

See all (21) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Results demonstrate that Akr7a3 mRNA and protein levels are consistently co-expressed along with Akr1b10, in both experimental rat liver carcinogenesis and some human hepatocellular carcinoma samples.
    Title: Aldo-Keto Reductases as Early Biomarkers of Hepatocellular Carcinoma: A Comparison Between Animal Models and Human HCC.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: A Large-scale genetic association study of esophageal adenocarcinoma risk.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables aldo-keto reductase (NADP) activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables electron transfer activity TAS
Traceable Author Statement
more info
 PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cellular aldehyde metabolic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in electron transport chain IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 

General protein information

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Preferred Names
aflatoxin B1 aldehyde reductase member 3
Names
AFB1 aldehyde reductase 2
AFB1-AR 2
aflatoxin B1 aldehyde reductase 2
aflatoxin aldehyde reductase
epididymis secretory sperm binding protein
NP_036199.2
XP_011539348.1
XP_047305563.1
XP_054191212.1
XP_054191213.1

NCBI Reference Sequences (RefSeq)

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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_012067.3 → NP_036199.2  aflatoxin B1 aldehyde reductase member 3

    See identical proteins and their annotated locations for NP_036199.2

    Status: VALIDATED

    Source sequence(s)
    BC031562, BG747063, BM855386, BM920315
    Consensus CDS
    CCDS193.1
    UniProtKB/Swiss-Prot
    O95154, Q86SR4, Q8IVN6, Q8N5V6, Q8TAX1, Q9NUC3
    UniProtKB/TrEMBL
    A0A384MDN8
    Related
    ENSP00000355377.4, ENST00000361640.5
    Conserved Domains (1) summary
    cd06660
    Location:10 → 318
    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 ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    19274229..19288770 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011541046.4 → XP_011539348.1  aflatoxin B1 aldehyde reductase member 3 isoform X1

    Conserved Domains (2) summary
    cd06660
    Location:10 → 220
    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:10 → 270
    Tas; Predicted oxidoreductase (related to aryl-alcohol dehydrogenase) [General function prediction only]

  2. XM_047449607.1 → XP_047305563.1  aflatoxin B1 aldehyde reductase member 3 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    19097755..19112298 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054335237.1 → XP_054191212.1  aflatoxin B1 aldehyde reductase member 3 isoform X1

  2. XM_054335238.1 → XP_054191213.1  aflatoxin B1 aldehyde reductase member 3 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O95154.2 GenPept UniProtKB/Swiss-Prot:O95154

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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