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

Gene ID: 246181, updated on 12-Mar-2017
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; Vega:OTTHUMG00000002520
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]
Location:
1p36.13; 1p35-p36.1
Exon count:
7
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (19265982..19274074, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (19592476..19600568, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927895 Neighboring gene ER membrane protein complex subunit 1 Neighboring gene MRT4 homolog, ribosome maturation factor Neighboring gene aldo-keto reductase family 7 member A3 Neighboring gene uncharacterized LOC100506730

  • 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

Related articles in PubMed

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Voxelwise genome-wide association study (vGWAS).
NHGRI GWA Catalog
  • Aflatoxin activation and detoxification, organism-specific biosystem (from REACTOME)
    Aflatoxin activation and detoxification, organism-specific biosystemAflatoxins are among the principal mycotoxins produced as secondary metabolites by the molds Aspergillus flavus and Aspergillus parasiticus that contaminate economically important food and feed crops...
  • Biological oxidations, organism-specific biosystem (from REACTOME)
    Biological oxidations, organism-specific biosystemAll organisms are constantly exposed to foreign chemicals every day. These can be man-made (drugs, industrial chemicals) or natural (alkaloids, toxins from plants and animals). Uptake is usually via ...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
aldo-keto reductase (NADP) activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
xenobiotic metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
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

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_001348421.1NP_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

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, OTTHUMT00000127796

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

    Range
    19265982..19274074 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    19701817..19724525 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.
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