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Protein

Testosterone 17-beta-dehydrogenase 3

Gene

HSD17B3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Favors the reduction of androstenedione to testosterone. Uses NADPH while the two other EDH17B enzymes use NADH.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: testosterone biosynthesis

This protein is involved in the pathway testosterone biosynthesis, which is part of Hormone biosynthesis.
View all proteins of this organism that are known to be involved in the pathway testosterone biosynthesis and in Hormone biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei185SubstrateBy similarity1
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei198Proton acceptorPROSITE-ProRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi48 – 77NADPBy similarityAdd BLAST30

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

  • androgen biosynthetic process Source: Reactome
  • male genitalia development Source: ProtInc
  • steroid biosynthetic process Source: GO_Central
  • testosterone biosynthetic process Source: UniProtKB-UniPathway

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionOxidoreductase
Biological processLipid biosynthesis, Lipid metabolism, Steroid biosynthesis
LigandNADP

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS05461-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
1.1.1.51 2681
1.1.1.64 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-193048 Androgen biosynthesis
R-HSA-75876 Synthesis of very long-chain fatty acyl-CoAs

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00367

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000001270 [P37058-1]

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Testosterone 17-beta-dehydrogenase 3 (EC:1.1.1.64)
Alternative name(s):
17-beta-hydroxysteroid dehydrogenase type 3
Short name:
17-beta-HSD 3
Short chain dehydrogenase/reductase family 12C member 2
Testicular 17-beta-hydroxysteroid dehydrogenase
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:HSD17B3
Synonyms:EDH17B3, SDR12C2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 9

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000130948.9

Human Gene Nomenclature Database

More...
HGNCi
HGNC:5212 HSD17B3

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
605573 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P37058

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Endoplasmic reticulum

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Male pseudohermaphrodism with gynecomastia (MPH)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder that manifests, in males, as undermasculinization characterized by hypoplastic-to-normal internal genitalia (epididymis, vas deferens, seminal vesicles, and ejaculatory ducts) but female external genitalia and the absence of a prostate. This phenotype is caused by inadequate testicular synthesis of testosterone, which, in turn, results in insufficient formation of dihydrotestosterone in the anlage of the external genitalia and prostate during fetal development. At the expected time of puberty, there is a marked increase in plasma leuteinizing hormone and, consequently, in testicular secretion of androstenedione. Hence, a diagnostic hallmark of this disorder is a decreased plasma testosterone-to-androstenedione ratio. Significant amounts of the circulating androstenedione are, however, converted to testosterone, in peripheral tissues, thereby causing virilization.
See also OMIM:264300
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_01606756A → T in MPH; Cambridge-2; affects NADPH cofactor binding. 1 PublicationCorresponds to variant dbSNP:rs119481078EnsemblClinVar.1
Natural variantiVAR_01606865S → L in MPH. 1 PublicationCorresponds to variant dbSNP:rs747329682EnsemblClinVar.1
Natural variantiVAR_00695380R → Q in MPH; Gaza. 1 PublicationCorresponds to variant dbSNP:rs119481075EnsemblClinVar.1
Natural variantiVAR_00695480R → W in MPH. 1 PublicationCorresponds to variant dbSNP:rs119481077EnsemblClinVar.1
Natural variantiVAR_016069130N → S in MPH; Cambridge-1; complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs119481079EnsemblClinVar.1
Natural variantiVAR_075369133G → R in MPH; almost complete loss of testosterone 17-beta-dehydrogenase (NADP+) activity; no effect on protein abundance; no effect on endoplasmic reticulum location. 1 PublicationCorresponds to variant dbSNP:rs747724352EnsemblClinVar.1
Natural variantiVAR_016070176Q → P in MPH. 1 PublicationCorresponds to variant dbSNP:rs767259718Ensembl.1
Natural variantiVAR_006955203A → V in MPH. 1 PublicationCorresponds to variant dbSNP:rs119481076EnsemblClinVar.1
Natural variantiVAR_016071205V → E in MPH. 1 PublicationCorresponds to variant dbSNP:rs372027264EnsemblClinVar.1
Natural variantiVAR_016072208F → I in MPH. 1 Publication1
Natural variantiVAR_016203215E → D in MPH. 1 PublicationCorresponds to variant dbSNP:rs115063639Ensembl.1
Natural variantiVAR_006956232S → L in MPH. 1 PublicationCorresponds to variant dbSNP:rs28939085EnsemblClinVar.1
Natural variantiVAR_006957235M → V in MPH. 1 PublicationCorresponds to variant dbSNP:rs119481074EnsemblClinVar.1
Natural variantiVAR_016073268C → Y in MPH; complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs119481080EnsemblClinVar.1
Natural variantiVAR_016074282P → L in MPH. 1 PublicationCorresponds to variant dbSNP:rs144809928EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi133G → A: Has 70% of wild-type testosterone 17-beta-dehydrogenase (NADP+) activity. 1 Publication1
Mutagenesisi133G → F: Almost complete loss of testosterone 17-beta-dehydrogenase (NADP+) activity. 1 Publication1
Mutagenesisi133G → Q: Almost complete loss of testosterone 17-beta-dehydrogenase (NADP+) activity. 1 Publication1

Keywords - Diseasei

Disease mutation, Pseudohermaphroditism

Organism-specific databases

DisGeNET

More...
DisGeNETi
3293

MalaCards human disease database

More...
MalaCardsi
HSD17B3
MIMi264300 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000130948

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
752 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA29480

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL4234

Drug and drug target database

More...
DrugBanki
DB00157 NADH

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
HSD17B3

Domain mapping of disease mutations (DMDM)

More...
DMDMi
1169300

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000545731 – 310Testosterone 17-beta-dehydrogenase 3Add BLAST310

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P37058

PeptideAtlas

More...
PeptideAtlasi
P37058

PRoteomics IDEntifications database

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PRIDEi
P37058

ProteomicsDB human proteome resource

More...
ProteomicsDBi
55255

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P37058

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P37058

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Testis.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000130948 Expressed in 106 organ(s), highest expression level in right testis

CleanEx database of gene expression profiles

More...
CleanExi
HS_HSD17B3

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P37058 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P37058 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA056833

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
109526, 11 interactors

Protein interaction database and analysis system

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IntActi
P37058, 11 interactors

Molecular INTeraction database

More...
MINTi
P37058

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000364412

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
P37058

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
P37058

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1014 Eukaryota
COG0300 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000160266

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000039237

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG005478

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P37058

KEGG Orthology (KO)

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KOi
K10207

Identification of Orthologs from Complete Genome Data

More...
OMAi
IGDETCG

Database of Orthologous Groups

More...
OrthoDBi
EOG091G06T2

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P37058

TreeFam database of animal gene trees

More...
TreeFami
TF314591

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR033281 HSD17B3
IPR036291 NAD(P)-bd_dom_sf
IPR020904 Sc_DH/Rdtase_CS
IPR002347 SDR_fam

The PANTHER Classification System

More...
PANTHERi
PTHR43899:SF7 PTHR43899:SF7, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00106 adh_short, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00081 GDHRDH
PR00080 SDRFAMILY

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF51735 SSF51735, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00061 ADH_SHORT, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: P37058-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MGDVLEQFFI LTGLLVCLAC LAKCVRFSRC VLLNYWKVLP KSFLRSMGQW
60 70 80 90 100
AVITGAGDGI GKAYSFELAK RGLNVVLISR TLEKLEAIAT EIERTTGRSV
110 120 130 140 150
KIIQADFTKD DIYEHIKEKL AGLEIGILVN NVGMLPNLLP SHFLNAPDEI
160 170 180 190 200
QSLIHCNITS VVKMTQLILK HMESRQKGLI LNISSGIALF PWPLYSMYSA
210 220 230 240 250
SKAFVCAFSK ALQEEYKAKE VIIQVLTPYA VSTAMTKYLN TNVITKTADE
260 270 280 290 300
FVKESLNYVT IGGETCGCLA HEILAGFLSL IPAWAFYSGA FQRLLLTHYV
310
AYLKLNTKVR
Length:310
Mass (Da):34,516
Last modified:November 1, 1995 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i0643FF35ED979185
GO
Isoform 2 (identifier: P37058-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     225-274: Missing.

Note: No experimental confirmation available.
Show »
Length:260
Mass (Da):29,109
Checksum:i81CBF73E81169EF1
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01487031V → I1 PublicationCorresponds to variant dbSNP:rs2066480EnsemblClinVar.1
Natural variantiVAR_01606756A → T in MPH; Cambridge-2; affects NADPH cofactor binding. 1 PublicationCorresponds to variant dbSNP:rs119481078EnsemblClinVar.1
Natural variantiVAR_01606865S → L in MPH. 1 PublicationCorresponds to variant dbSNP:rs747329682EnsemblClinVar.1
Natural variantiVAR_00695380R → Q in MPH; Gaza. 1 PublicationCorresponds to variant dbSNP:rs119481075EnsemblClinVar.1
Natural variantiVAR_00695480R → W in MPH. 1 PublicationCorresponds to variant dbSNP:rs119481077EnsemblClinVar.1
Natural variantiVAR_016069130N → S in MPH; Cambridge-1; complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs119481079EnsemblClinVar.1
Natural variantiVAR_075369133G → R in MPH; almost complete loss of testosterone 17-beta-dehydrogenase (NADP+) activity; no effect on protein abundance; no effect on endoplasmic reticulum location. 1 PublicationCorresponds to variant dbSNP:rs747724352EnsemblClinVar.1
Natural variantiVAR_016070176Q → P in MPH. 1 PublicationCorresponds to variant dbSNP:rs767259718Ensembl.1
Natural variantiVAR_006955203A → V in MPH. 1 PublicationCorresponds to variant dbSNP:rs119481076EnsemblClinVar.1
Natural variantiVAR_016071205V → E in MPH. 1 PublicationCorresponds to variant dbSNP:rs372027264EnsemblClinVar.1
Natural variantiVAR_016072208F → I in MPH. 1 Publication1
Natural variantiVAR_016203215E → D in MPH. 1 PublicationCorresponds to variant dbSNP:rs115063639Ensembl.1
Natural variantiVAR_006956232S → L in MPH. 1 PublicationCorresponds to variant dbSNP:rs28939085EnsemblClinVar.1
Natural variantiVAR_006957235M → V in MPH. 1 PublicationCorresponds to variant dbSNP:rs119481074EnsemblClinVar.1
Natural variantiVAR_016073268C → Y in MPH; complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs119481080EnsemblClinVar.1
Natural variantiVAR_016074282P → L in MPH. 1 PublicationCorresponds to variant dbSNP:rs144809928EnsemblClinVar.1
Natural variantiVAR_061844289G → C. Corresponds to variant dbSNP:rs2066479EnsemblClinVar.1
Natural variantiVAR_061845289G → R. Corresponds to variant dbSNP:rs2066479EnsemblClinVar.1
Natural variantiVAR_014871289G → S2 PublicationsCorresponds to variant dbSNP:rs2066479EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_056640225 – 274Missing in isoform 2. 1 PublicationAdd BLAST50

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
U05659 mRNA Translation: AAC50066.1
AY341031 Genomic DNA Translation: AAP88937.1
BT019371 mRNA Translation: AAV38178.1
AL160269 Genomic DNA No translation available.
BC034281 mRNA Translation: AAH34281.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS6716.1 [P37058-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
S43928

NCBI Reference Sequences

More...
RefSeqi
NP_000188.1, NM_000197.1 [P37058-1]
XP_011516920.1, XM_011518618.2 [P37058-1]
XP_011516921.1, XM_011518619.2 [P37058-1]
XP_016870160.1, XM_017014671.1 [P37058-1]
XP_016870161.1, XM_017014672.1 [P37058-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.477

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000375262; ENSP00000364411; ENSG00000130948 [P37058-2]
ENST00000375263; ENSP00000364412; ENSG00000130948 [P37058-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
3293

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:3293

UCSC genome browser

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UCSCi
uc010msc.1 human [P37058-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U05659 mRNA Translation: AAC50066.1
AY341031 Genomic DNA Translation: AAP88937.1
BT019371 mRNA Translation: AAV38178.1
AL160269 Genomic DNA No translation available.
BC034281 mRNA Translation: AAH34281.1
CCDSiCCDS6716.1 [P37058-1]
PIRiS43928
RefSeqiNP_000188.1, NM_000197.1 [P37058-1]
XP_011516920.1, XM_011518618.2 [P37058-1]
XP_011516921.1, XM_011518619.2 [P37058-1]
XP_016870160.1, XM_017014671.1 [P37058-1]
XP_016870161.1, XM_017014672.1 [P37058-1]
UniGeneiHs.477

3D structure databases

ProteinModelPortaliP37058
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109526, 11 interactors
IntActiP37058, 11 interactors
MINTiP37058
STRINGi9606.ENSP00000364412

Chemistry databases

BindingDBiP37058
ChEMBLiCHEMBL4234
DrugBankiDB00157 NADH
SwissLipidsiSLP:000001270 [P37058-1]

PTM databases

iPTMnetiP37058
PhosphoSitePlusiP37058

Polymorphism and mutation databases

BioMutaiHSD17B3
DMDMi1169300

Proteomic databases

PaxDbiP37058
PeptideAtlasiP37058
PRIDEiP37058
ProteomicsDBi55255

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
3293
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000375262; ENSP00000364411; ENSG00000130948 [P37058-2]
ENST00000375263; ENSP00000364412; ENSG00000130948 [P37058-1]
GeneIDi3293
KEGGihsa:3293
UCSCiuc010msc.1 human [P37058-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
3293
DisGeNETi3293
EuPathDBiHostDB:ENSG00000130948.9

GeneCards: human genes, protein and diseases

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GeneCardsi
HSD17B3
HGNCiHGNC:5212 HSD17B3
HPAiHPA056833
MalaCardsiHSD17B3
MIMi264300 phenotype
605573 gene
neXtProtiNX_P37058
OpenTargetsiENSG00000130948
Orphaneti752 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
PharmGKBiPA29480

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1014 Eukaryota
COG0300 LUCA
GeneTreeiENSGT00940000160266
HOGENOMiHOG000039237
HOVERGENiHBG005478
InParanoidiP37058
KOiK10207
OMAiIGDETCG
OrthoDBiEOG091G06T2
PhylomeDBiP37058
TreeFamiTF314591

Enzyme and pathway databases

UniPathwayi
UPA00367

BioCyciMetaCyc:HS05461-MONOMER
BRENDAi1.1.1.51 2681
1.1.1.64 2681
ReactomeiR-HSA-193048 Androgen biosynthesis
R-HSA-75876 Synthesis of very long-chain fatty acyl-CoAs

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
HSD17B3 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
HSD17B3_(gene)

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
3293

Protein Ontology

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PROi
PR:P37058

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000130948 Expressed in 106 organ(s), highest expression level in right testis
CleanExiHS_HSD17B3
ExpressionAtlasiP37058 baseline and differential
GenevisibleiP37058 HS

Family and domain databases

InterProiView protein in InterPro
IPR033281 HSD17B3
IPR036291 NAD(P)-bd_dom_sf
IPR020904 Sc_DH/Rdtase_CS
IPR002347 SDR_fam
PANTHERiPTHR43899:SF7 PTHR43899:SF7, 1 hit
PfamiView protein in Pfam
PF00106 adh_short, 1 hit
PRINTSiPR00081 GDHRDH
PR00080 SDRFAMILY
SUPFAMiSSF51735 SSF51735, 1 hit
PROSITEiView protein in PROSITE
PS00061 ADH_SHORT, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiDHB3_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P37058
Secondary accession number(s): Q5U0Q6
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: November 1, 1995
Last modified: December 5, 2018
This is version 183 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
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