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

Gene ID: 340811, updated on 11-Apr-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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See AKR1C8 in Genome Data Viewer
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 protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 

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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