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AKR1B15 aldo-keto reductase family 1 member B15 [ Homo sapiens (human) ]

Gene ID: 441282, updated on 11-Apr-2024

Summary

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Official Symbol
AKR1B15provided by HGNC
Official Full Name
aldo-keto reductase family 1 member B15provided by HGNC
Primary source
HGNC:HGNC:37281
See related
Ensembl:ENSG00000227471 MIM:616336; AllianceGenome:HGNC:37281
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
AKR1B10L; AKR1R1B7; AKR1B10L, AK1R1B7
Summary
Enables estradiol 17-beta-dehydrogenase activity. Predicted to be involved in estrogen biosynthetic process. Located in cytosol and mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in stomach (RPKM 12.1), duodenum (RPKM 9.7) and 4 other tissues See more
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Genomic context

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Location:
7q33
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (134549110..134579869)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (135857188..135887905)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (134233862..134264621)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene endogenous retrovirus group 3 member 1 pseudogene Neighboring gene Sharpr-MPRA regulatory region 13664 Neighboring gene uncharacterized LOC105375520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26690 Neighboring gene aldo-keto reductase family 1 member B10 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:134247191-134248390 Neighboring gene uncharacterized LOC124901750 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26691 Neighboring gene CRISPRi-validated cis-regulatory element chr7.4787 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26692 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26693 Neighboring gene Sharpr-MPRA regulatory region 13526 Neighboring gene Sharpr-MPRA regulatory region 7726 Neighboring gene bisphosphoglycerate mutase Neighboring gene Sharpr-MPRA regulatory region 6861 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:134388514-134388724 Neighboring gene uncharacterized LOC124901751

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. Substrate Specificity, Inhibitor Selectivity and Structure-Function Relationships of Aldo-Keto Reductase 1B15: A Novel Human Retinaldehyde Reductase. Giménez-Dejoz J, et al. PLoS One, 2015. PMID 26222439, Free PMC Article
  2. Identification of a role for a mouse sperm surface aldo-keto reductase (AKR1B7) and its human analogue in the detoxification of the reactive aldehyde, acrolein. Jagoe WN, et al. Andrologia, 2013 Oct. PMID 22970857
  3. Aldo-keto Reductase 1B15 (AKR1B15): a mitochondrial human aldo-keto reductase with activity toward steroids and 3-keto-acyl-CoA conjugates. Weber S, et al. J Biol Chem, 2015 Mar 6. PMID 25577493, Free PMC Article
  4. Functional expression of novel human and murine AKR1B genes. Salabei JK, et al. Chem Biol Interact, 2011 May 30. PMID 21276782, Free PMC Article
  5. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Calvo SE, et al. Sci Transl Med, 2012 Jan 25. PMID 22277967, Free PMC Article

See all (15) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Amino acid substitutions clustered in loops A and C result in a smaller more hydrophobic and more rigid active site in AKR1B15 compared with the AKR1B10 pocket, consistent with distinct substrate specificity and narrower inhibitor selectivity for AKR1B15.
    Title: Substrate Specificity, Inhibitor Selectivity and Structure-Function Relationships of Aldo-Keto Reductase 1B15: A Novel Human Retinaldehyde Reductase.
  2. AKR1B15.2 localizes to the cytosol and displays no enzymatic activity with the substrates tested.
    Title: Aldo-keto Reductase 1B15 (AKR1B15): a mitochondrial human aldo-keto reductase with activity toward steroids and 3-keto-acyl-CoA conjugates.
  3. human sperm possess an aldo-keto reductase on their membrane surface and are thus enzymatically protected against reactive aldehyde species both in the male and female reproductive tract
    Title: Identification of a role for a mouse sperm surface aldo-keto reductase (AKR1B7) and its human analogue in the detoxification of the reactive aldehyde, acrolein.
  4. Strong candidate gene for mitochondrial disease, based on recessive mutations detected in infantile patients
    Title: Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
  5. AKR1B15 and Akr1b16 genes are expressed as functional proteins in human and murine tissues
    Title: Functional expression of novel human and murine AKR1B genes.
  6. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Joint influence of small-effect genetic variants on human longevity.
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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Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables aldose reductase (NADPH) activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables all-trans-retinol dehydrogenase (NADP+) activity IEA
Inferred from Electronic Annotation
more info
  
enables allyl-alcohol dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
  
enables estradiol 17-beta-dehydrogenase [NAD(P)] activity TAS
Traceable Author Statement
more info
  
enables farnesol dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
  
enables testosterone 17-beta-dehydrogenase (NADP+) activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in estrogen biosynthetic process TAS
Traceable Author Statement
more info
  
involved_in retinol metabolic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
aldo-keto reductase family 1 member B15
Names
estradiol 17-beta-dehydrogenase AKR1B15
farnesol dehydrogenase
putative aldo-keto reductase family 1 member B15
testosterone 17beta-dehydrogenase
NP_001074007.2
NP_001354749.1
NP_001354750.1
NP_001354751.1

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_001080538.3 → NP_001074007.2  aldo-keto reductase family 1 member B15 isoform a

    See identical proteins and their annotated locations for NP_001074007.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1 and 2 both encode the same isoform (a).
    Source sequence(s)
    AC078847, BX335355
    Consensus CDS
    CCDS47715.2
    UniProtKB/TrEMBL
    A4D1P0
    Related
    ENSP00000389289.1, ENST00000457545.7
    Conserved Domains (2) summary
    COG0656
    Location:56 → 325
    ARA1; Aldo/keto reductase, related to diketogulonate reductase [Secondary metabolites biosynthesis, transport and catabolism]
    COG0667
    Location:57 → 317
    Tas; Predicted oxidoreductase (related to aryl-alcohol dehydrogenase) [General function prediction only]

  2. NM_001367820.1 → NP_001354749.1  aldo-keto reductase family 1 member B15 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (a).
    Source sequence(s)
    AC078847
    Consensus CDS
    CCDS47715.2
    UniProtKB/TrEMBL
    A4D1P0
    Related
    ENSP00000397009.2, ENST00000423958.2

  3. NM_001367821.1 → NP_001354750.1  aldo-keto reductase family 1 member B15 isoform b

    Status: VALIDATED

    Source sequence(s)
    AC078847
    Consensus CDS
    CCDS94205.1
    UniProtKB/Swiss-Prot
    C9J3V2, C9JRZ8
    UniProtKB/TrEMBL
    A4D1P0
    Related
    ENSP00000498877.1, ENST00000652743.1
    Conserved Domains (1) summary
    cd19107
    Location:10 → 316
    AKR_AKR1B1-19; AKR1B family of aldo-keto reductase (AKR)

  4. NM_001367822.1 → NP_001354751.1  aldo-keto reductase family 1 member B15 isoform c

    Status: VALIDATED

    Source sequence(s)
    AC078847

RNA

  1. NR_160301.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC078847
    Related
    ENST00000467156.1

  2. NR_160302.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC078847

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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    134549110..134579869
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    135857188..135887905
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
C9JRZ8.2 GenPept UniProtKB/Swiss-Prot:C9JRZ8

Gene LinkOut

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