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    AKR1C8 aldo-keto reductase family 1 member C8 [ Homo sapiens (human) ]

    Gene ID: 340811, updated on 2-May-2024

    Summary

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    Official Symbol
    AKR1C8provided by HGNC
    Official Full Name
    aldo-keto reductase family 1 member C8provided by HGNC
    Primary source
    HGNC:HGNC:23469
    See related
    Ensembl:ENSG00000264006 AllianceGenome:HGNC:23469
    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
    AKR1C8P; AKR1CL1
    Summary
    Predicted to enable D-threo-aldose 1-dehydrogenase activity; aldo-keto reductase (NADP) activity; and estradiol 17-beta-dehydrogenase activity. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    Location:
    10p15.1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (5115813..5185150, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (5115808..5186948, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (5196120..5227113, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984198 Neighboring gene uncharacterized LOC124902366 Neighboring gene aldo-keto reductase family 1 member C3 Neighboring gene Sharpr-MPRA regulatory region 11333 Neighboring gene U8 small nucleolar RNA Neighboring gene Sharpr-MPRA regulatory region 1972 Neighboring gene MPRA-validated peak852 silencer Neighboring gene MPRA-validated peak853 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr10:5241916-5242139 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_13158 Neighboring gene aldo-keto reductase family 1 member C4 Neighboring gene ADP ribosylation factor like GTPase 4A pseudogene 3 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_13180 Neighboring gene long intergenic non-protein coding RNA 2561

    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 DNA sequence and comparative analysis of human chromosome 10. Deloukas P, et al. Nature, 2004 May 27. PMID 15164054
    2. DCAF8, a novel MuRF1 interaction partner, promotes muscle atrophy. Nowak M, et al. J Cell Sci, 2019 Sep 6. PMID 31391242
    3. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. Haenig C, et al. Cell Rep, 2020 Aug 18. PMID 32814053
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ16347

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    putative aldo-keto reductase family 1 member C8
    Names
    aldo-keto reductase family 1 member C-like protein 1
    aldo-keto reductase family 1 member C8, pseudogene
    aldo-keto reductase family 1, member C-like 1
    protein RAKc

    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_001395972.1 → NP_001382901.1  putative aldo-keto reductase family 1 member C8

      Status: VALIDATED

      Source sequence(s)
      AL355303
      Consensus CDS
      CCDS91207.1
      UniProtKB/TrEMBL
      A0A3B3IRI8
      Related
      ENSP00000496804.1, ENST00000648824.2
      Conserved Domains (1) summary
      cd19108
      Location:9 → 308
      AKR_AKR1C1-35; AKR1C family of aldo-keto reductase (AKR)

    RNA

    1. NR_027916.3 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL355303

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      5115813..5185150 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047425162.1 → XP_047281118.1  putative aldo-keto reductase family 1 member C8 isoform X1

    2. XM_047425161.1 → XP_047281117.1  putative aldo-keto reductase family 1 member C8 isoform X1

    3. XM_047425160.1 → XP_047281116.1  putative aldo-keto reductase family 1 member C8 isoform X1

    4. XM_047425159.1 → XP_047281115.1  putative aldo-keto reductase family 1 member C8 isoform X1

    5. XM_047425158.1 → XP_047281114.1  putative aldo-keto reductase family 1 member C8 isoform X1

    6. XM_047425156.1 → XP_047281112.1  putative aldo-keto reductase family 1 member C8 isoform X1

    7. XM_047425157.1 → XP_047281113.1  putative aldo-keto reductase family 1 member C8 isoform X1

    8. XM_047425164.1 → XP_047281120.1  putative aldo-keto reductase family 1 member C8 isoform X2

    9. XM_047425163.1 → XP_047281119.1  putative aldo-keto reductase family 1 member C8 isoform X1

    10. XM_047425165.1 → XP_047281121.1  putative aldo-keto reductase family 1 member C8 isoform X3

    11. XM_047425166.1 → XP_047281122.1  putative aldo-keto reductase family 1 member C8 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      5115808..5186948 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054365731.1 → XP_054221706.1  putative aldo-keto reductase family 1 member C8 isoform X1

    2. XM_054365732.1 → XP_054221707.1  putative aldo-keto reductase family 1 member C8 isoform X3

    3. XM_054365733.1 → XP_054221708.1  putative aldo-keto reductase family 1 member C8 isoform X4

    RNA

    1. XR_008488203.1 RNA Sequence

    2. XR_008488209.1 RNA Sequence

    3. XR_008488207.1 RNA Sequence

    4. XR_008488206.1 RNA Sequence

    5. XR_008488208.1 RNA Sequence

    6. XR_008488205.1 RNA Sequence

    7. XR_008488204.1 RNA Sequence

    8. XR_008488202.1 RNA Sequence

    9. XR_007080927.1 RNA Sequence

    10. XR_008488210.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001007536.3: Suppressed sequence

      Description
      NM_001007536.3: 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
    Q5T2L2.2 GenPept UniProtKB/Swiss-Prot:Q5T2L2

    Gene LinkOut

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