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HSD17B3 hydroxysteroid 17-beta dehydrogenase 3 [ Homo sapiens (human) ]

Gene ID: 3293, updated on 24-Nov-2020

Summary

Official Symbol
HSD17B3provided by HGNC
Official Full Name
hydroxysteroid 17-beta dehydrogenase 3provided by HGNC
Primary source
HGNC:HGNC:5212
See related
Ensembl:ENSG00000130948 MIM:605573
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EDH17B3; SDR12C2
Summary
This isoform of 17 beta-hydroxysteroid dehydrogenase is expressed predominantly in the testis and catalyzes the conversion of androstenedione to testosterone. It preferentially uses NADP as cofactor. Deficiency can result in male pseudohermaphroditism with gynecomastia. [provided by RefSeq, Jul 2008]
Expression
Biased expression in testis (RPKM 7.7), small intestine (RPKM 0.7) and 4 other tissues See more
Orthologs

Genomic context

See HSD17B3 in Genome Data Viewer
Location:
9q22.32
Exon count:
16
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (96235306..96313987, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (98997588..99064662, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene eukaryotic translation initiation factor 4B pseudogene 3 Neighboring gene uncharacterized LOC107987033 Neighboring gene HSD17B3 antisense RNA 1 Neighboring gene RNA, U6 small nuclear 1160, pseudogene Neighboring gene solute carrier family 35 member D2 Neighboring gene zinc finger protein 367 Neighboring gene NSA2 pseudogene 7 Neighboring gene hyaluronan binding protein 4

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study of smoking behaviours among Bangladeshi adults.
GeneReviews: Not available
Testosterone 17-beta-dehydrogenase deficiency
MedGen: C0268296 OMIM: 264300 GeneReviews: Not available
Compare labs

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
estradiol 17-beta-dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
 
testosterone 17-beta-dehydrogenase (NADP+) activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
testosterone 17-beta-dehydrogenase (NADP+) activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
androgen biosynthetic process TAS
Traceable Author Statement
more info
 
male genitalia development IEA
Inferred from Electronic Annotation
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
steroid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
testosterone biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
intracellular membrane-bounded organelle TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
testosterone 17-beta-dehydrogenase 3
Names
17-beta-HSD 3
17-beta-HSD3
17-beta-hydroxysteroid dehydrogenase type 3
hydroxysteroid dehydrogenase 3
short chain dehydrogenase/reductase family 12C member 2
testicular 17-beta-hydroxysteroid dehydrogenase
NP_000188.1
XP_011516920.1
XP_011516921.1
XP_016870160.1
XP_016870161.1
XP_016870162.1
XP_016870163.1
XP_016870164.1
XP_016870166.1
XP_024303297.1

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_008157.1 RefSeqGene

    Range
    4977..71847
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000197.2NP_000188.1  testosterone 17-beta-dehydrogenase 3

    See identical proteins and their annotated locations for NP_000188.1

    Status: REVIEWED

    Source sequence(s)
    BC034281, HY027495
    Consensus CDS
    CCDS6716.1
    UniProtKB/Swiss-Prot
    P37058
    UniProtKB/TrEMBL
    Q6FH62
    Related
    ENSP00000364412.3, ENST00000375263.8
    Conserved Domains (1) summary
    cd05356
    Location:48284
    17beta-HSD1_like_SDR_c; 17-beta-hydroxysteroid dehydrogenases (17beta-HSDs) types -1, -3, and -12, -like, classical (c) SDRs

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    96235306..96313987 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011518618.2XP_011516920.1  testosterone 17-beta-dehydrogenase 3 isoform X1

    See identical proteins and their annotated locations for XP_011516920.1

    UniProtKB/Swiss-Prot
    P37058
    UniProtKB/TrEMBL
    Q6FH62
    Conserved Domains (1) summary
    cd05356
    Location:48284
    17beta-HSD1_like_SDR_c; 17-beta-hydroxysteroid dehydrogenases (17beta-HSDs) types -1, -3, and -12, -like, classical (c) SDRs
  2. XM_017014677.1XP_016870166.1  testosterone 17-beta-dehydrogenase 3 isoform X5

    Conserved Domains (1) summary
    cl21454
    Location:31164
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  3. XM_017014674.1XP_016870163.1  testosterone 17-beta-dehydrogenase 3 isoform X3

    Related
    ENSP00000498039.1, ENST00000648799.1
    Conserved Domains (2) summary
    cd05356
    Location:48248
    17beta-HSD1_like_SDR_c; 17-beta-hydroxysteroid dehydrogenases (17beta-HSDs) types -1, -3, and -12, -like, classical (c) SDRs
    pfam00106
    Location:49207
    adh_short; short chain dehydrogenase
  4. XM_017014673.2XP_016870162.1  testosterone 17-beta-dehydrogenase 3 isoform X2

  5. XM_017014675.1XP_016870164.1  testosterone 17-beta-dehydrogenase 3 isoform X4

    Conserved Domains (1) summary
    cd05356
    Location:39230
    17beta-HSD1_like_SDR_c; 17-beta-hydroxysteroid dehydrogenases (17beta-HSDs) types -1, -3, and -12, -like, classical (c) SDRs
  6. XM_024447529.1XP_024303297.1  testosterone 17-beta-dehydrogenase 3 isoform X4

    Conserved Domains (1) summary
    cd05356
    Location:39230
    17beta-HSD1_like_SDR_c; 17-beta-hydroxysteroid dehydrogenases (17beta-HSDs) types -1, -3, and -12, -like, classical (c) SDRs
  7. XM_017014672.1XP_016870161.1  testosterone 17-beta-dehydrogenase 3 isoform X1

    UniProtKB/Swiss-Prot
    P37058
    UniProtKB/TrEMBL
    Q6FH62
    Conserved Domains (1) summary
    cd05356
    Location:48284
    17beta-HSD1_like_SDR_c; 17-beta-hydroxysteroid dehydrogenases (17beta-HSDs) types -1, -3, and -12, -like, classical (c) SDRs
  8. XM_017014671.1XP_016870160.1  testosterone 17-beta-dehydrogenase 3 isoform X1

    UniProtKB/Swiss-Prot
    P37058
    UniProtKB/TrEMBL
    Q6FH62
    Conserved Domains (1) summary
    cd05356
    Location:48284
    17beta-HSD1_like_SDR_c; 17-beta-hydroxysteroid dehydrogenases (17beta-HSDs) types -1, -3, and -12, -like, classical (c) SDRs
  9. XM_011518619.2XP_011516921.1  testosterone 17-beta-dehydrogenase 3 isoform X1

    See identical proteins and their annotated locations for XP_011516921.1

    UniProtKB/Swiss-Prot
    P37058
    UniProtKB/TrEMBL
    Q6FH62
    Conserved Domains (1) summary
    cd05356
    Location:48284
    17beta-HSD1_like_SDR_c; 17-beta-hydroxysteroid dehydrogenases (17beta-HSDs) types -1, -3, and -12, -like, classical (c) SDRs

RNA

  1. XR_002956778.1 RNA Sequence

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