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

    Gene ID: 246181, updated on 10-Dec-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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    See AKR7L in Genome Data Viewer
    Location:
    1p36.13; 1p35-p36.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (19265982..19274122, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (19089504..19097648, complement)
    RS_2024_09 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. 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
    2. Voxelwise genome-wide association study (vGWAS). Stein JL, et al. Neuroimage, 2010 Nov 15. PMID 20171287, Free PMC Article
    3. The aldo-keto reductase superfamily homepage. Hyndman D, et al. Chem Biol Interact, 2003 Feb 1. PMID 12604248
    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)

    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_2024_08

    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.

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