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

    Gene ID: 441282, updated on 28-Oct-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 [NAD(P)+] activity. Predicted to be involved in estrogen biosynthetic process. Located in cytosol and mitochondrion. [provided by Alliance of Genome Resources, Oct 2024]
    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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    See AKR1B15 in Genome Data Viewer
    Location:
    7q33
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (134549110..134579869)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (135857188..135887905)
    RS_2024_09 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 48 member 1, envelope 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 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 (16) 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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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