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AKR7L aldo-keto reductase family 7 like (gene/pseudogene) [ Homo sapiens (human) ]

Gene ID: 246181, updated on 11-Apr-2024

Summary

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Official Symbol
AKR7Lprovided by HGNC
Official Full Name
aldo-keto reductase family 7 like (gene/pseudogene)provided by HGNC
Primary source
HGNC:HGNC:24056
See related
Ensembl:ENSG00000211454 MIM:608478; AllianceGenome:HGNC:24056
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
AFAR3; AKR7A4; AFB1-AR3; AFB1-AR 3
Summary
This gene is one of three aldo-keto reductase genes that are present in a cluster on the p arm of chromosome 1. The encoded proteins are involved in the reduction of the dialdehyde protein-binding form of aflatoxin B1 (AFB1) to the non-binding AFB1 dialcohol. It has been speculated that this family member encodes a selenoprotein, which includes a selenocysteine (Sec) residue in lieu of a UGA translational termination codon. However, there is no evidence that such a protein is produced in vivo. The alternative interpretation is that this family member is a segregating pseudogene, where some individuals have an allele that encodes a functional enzyme, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Feb 2017]
Annotation information
Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene.
Expression
Biased expression in duodenum (RPKM 22.1), small intestine (RPKM 15.8) and 5 other tissues See more
Orthologs
all
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Genomic context

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Location:
1p36.13; 1p35-p36.1
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (19265982..19274122, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (19089504..19097648, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (19592476..19600616, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene EMC1 antisense RNA 1 Neighboring gene ER membrane protein complex subunit 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:19562203-19562373 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 member A3 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

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. The aldo-keto reductase superfamily homepage. Hyndman D, et al. Chem Biol Interact, 2003 Feb 1. PMID 12604248
  2. 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
  3. Voxelwise genome-wide association study (vGWAS). Stein JL, et al. Neuroimage, 2010 Nov 15. PMID 20171287, Free PMC Article
  4. Transcriptome analysis of human gastric cancer. Oh JH, et al. Mamm Genome, 2005 Dec. PMID 16341674
  5. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512

See all (13) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Voxelwise genome-wide association study (vGWAS).
EBI GWAS Catalog

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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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables aldo-keto reductase (NADPH) activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
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 4
Names
AFB1 aldehyde reductase 3
aldo-keto reductase family 7 pseudogene
aldo-keto reductase family 7-like
aldoketoreductase 7-like

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_001348421.1 → NP_001335350.1  aflatoxin B1 aldehyde reductase member 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and the functional allele that encodes the full-length protein.
    Source sequence(s)
    AJ278012, AL035413, BC035351, BQ083526, DN998265
    UniProtKB/Swiss-Prot
    Q5U614, Q8NHP1
    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 ...

RNA

  1. NR_040288.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, noncoding) represents the reference genome allele, which does not encode a full-length protein and is predicted to be non-functional.
    Source sequence(s)
    AJ278012, AL035413, BC035351, BQ083526

  2. NR_040289.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two internal exons compared to variant 1.
    Source sequence(s)
    AL035413, BC035351, BQ083526
    Related
    ENST00000457194.6

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
    19265982..19274122 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    19089504..19097648 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001145289.1: Suppressed sequence

    Description
    NM_001145289.1: This RefSeq was permanently suppressed because it is now thought that this gene is a pseudogene.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NHP1.7 GenPept UniProtKB/Swiss-Prot:Q8NHP1

Gene LinkOut

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

Chemical Information
Molecular Biology Databases
Research Materials
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