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    HSD17B12 hydroxysteroid 17-beta dehydrogenase 12 [ Homo sapiens (human) ]

    Gene ID: 51144, updated on 2-Nov-2024

    Summary

    Official Symbol
    HSD17B12provided by HGNC
    Official Full Name
    hydroxysteroid 17-beta dehydrogenase 12provided by HGNC
    Primary source
    HGNC:HGNC:18646
    See related
    Ensembl:ENSG00000149084 MIM:609574; AllianceGenome:HGNC:18646
    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
    KAR; SDR12C1
    Summary
    This gene encodes a very important 17beta-hydroxysteroid dehydrogenase (17beta-HSD) that converts estrone into estradiol in ovarian tissue. This enzyme is also involved in fatty acid elongation. [provided by RefSeq, Oct 2011]
    Expression
    Ubiquitous expression in brain (RPKM 34.2), kidney (RPKM 34.0) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See HSD17B12 in Genome Data Viewer
    Location:
    11p11.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (43556721..43856615)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (43731842..44012332)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (43702288..43878165)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene tetratricopeptide repeat domain 17 Neighboring gene peptidylprolyl isomerase A pseudogene 41 Neighboring gene CTBP2 pseudogene 6 Neighboring gene potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4-like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:43596905-43597647 Neighboring gene Sharpr-MPRA regulatory region 5565 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3268 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3269 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:43602229-43603028 Neighboring gene MIR670 host gene Neighboring gene microRNA 670 Neighboring gene microRNA 129-2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4641 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4642 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4644 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4643 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:43702143-43702708 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4645 Neighboring gene ribosomal protein L23a pseudogene 63 Neighboring gene MPRA-validated peak1263 silencer Neighboring gene PHB1 pseudogene 2 Neighboring gene uncharacterized LOC107984328 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:43852011-43853210 Neighboring gene uncharacterized LOC105376644 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4646 Neighboring gene SEC14 like 1 pseudogene 1 Neighboring gene alkB homolog 3, alpha-ketoglutarate dependent dioxygenase

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A novel common variant in DCST2 is associated with length in early life and height in adulthood.
    EBI GWAS Catalog
    Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma.
    EBI GWAS Catalog
    Genome-wide association analysis identifies six new loci associated with forced vital capacity.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vpu vpu HIV-1 Vpu is identified to have a physical interaction with hydroxysteroid (17-beta) dehydrogenase 12 (HSD17B12) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables collagen binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables estradiol 17-beta-dehydrogenase [NAD(P)+] activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables fibronectin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables heparin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables oxidoreductase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables very-long-chain 3-oxoacyl-CoA reductase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables very-long-chain 3-oxoacyl-CoA reductase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in extracellular matrix IEA
    Inferred from Electronic Annotation
    more info
     
    part_of fatty acid elongase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    very-long-chain 3-oxoacyl-CoA reductase
    Names
    17-beta-HSD 12
    17-beta-hydroxysteroid dehydrogenase 12
    17beta-HSD type 12
    3-ketoacyl-CoA reductase
    estradiol 17-beta-dehydrogenase 12
    short chain dehydrogenase/reductase family 12C member 1
    steroid dehydrogenase homolog
    NP_057226.1
    XP_011518458.1
    XP_016873370.1
    XP_024304339.1
    XP_024304340.1
    XP_024304341.1
    XP_047283030.1
    XP_054225030.1
    XP_054225031.1
    XP_054225032.1
    XP_054225033.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_016142.3NP_057226.1  very-long-chain 3-oxoacyl-CoA reductase

      See identical proteins and their annotated locations for NP_057226.1

      Status: VALIDATED

      Source sequence(s)
      AF078850, BC012043, BP359822
      Consensus CDS
      CCDS7905.1
      UniProtKB/Swiss-Prot
      A8K9B0, D3DR23, Q53GQ0, Q96EA9, Q96JU2, Q9Y6G8
      UniProtKB/TrEMBL
      B3KQJ0
      Related
      ENSP00000278353.4, ENST00000278353.10
      Conserved Domains (3) summary
      cd05356
      Location:50289
      17beta-HSD1_like_SDR_c; 17-beta-hydroxysteroid dehydrogenases (17beta-HSDs) types -1, -3, and -12, -like, classical (c) SDRs
      COG0300
      Location:50300
      DltE; Short-chain dehydrogenase [General function prediction only]
      cl21454
      Location:383
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      43556721..43856615
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024448573.2XP_024304341.1  very-long-chain 3-oxoacyl-CoA reductase isoform X2

      Conserved Domains (1) summary
      cd05356
      Location:1215
      17beta-HSD1_like_SDR_c; 17-beta-hydroxysteroid dehydrogenases (17beta-HSDs) types -1, -3, and -12, -like, classical (c) SDRs
    2. XM_047427074.1XP_047283030.1  very-long-chain 3-oxoacyl-CoA reductase isoform X2

    3. XM_024448571.2XP_024304339.1  very-long-chain 3-oxoacyl-CoA reductase isoform X2

      Conserved Domains (1) summary
      cd05356
      Location:1215
      17beta-HSD1_like_SDR_c; 17-beta-hydroxysteroid dehydrogenases (17beta-HSDs) types -1, -3, and -12, -like, classical (c) SDRs
    4. XM_024448572.2XP_024304340.1  very-long-chain 3-oxoacyl-CoA reductase isoform X2

      Conserved Domains (1) summary
      cd05356
      Location:1215
      17beta-HSD1_like_SDR_c; 17-beta-hydroxysteroid dehydrogenases (17beta-HSDs) types -1, -3, and -12, -like, classical (c) SDRs
    5. XM_017017881.2XP_016873370.1  very-long-chain 3-oxoacyl-CoA reductase isoform X1

      UniProtKB/TrEMBL
      B4DWS6
    6. XM_011520156.2XP_011518458.1  very-long-chain 3-oxoacyl-CoA reductase isoform X2

      Conserved Domains (1) summary
      cd05356
      Location:1215
      17beta-HSD1_like_SDR_c; 17-beta-hydroxysteroid dehydrogenases (17beta-HSDs) types -1, -3, and -12, -like, classical (c) SDRs

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      43731842..44012332
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369056.1XP_054225031.1  very-long-chain 3-oxoacyl-CoA reductase isoform X2

    2. XM_054369057.1XP_054225032.1  very-long-chain 3-oxoacyl-CoA reductase isoform X2

    3. XM_054369055.1XP_054225030.1  very-long-chain 3-oxoacyl-CoA reductase isoform X1

    4. XM_054369058.1XP_054225033.1  very-long-chain 3-oxoacyl-CoA reductase isoform X2