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UniProtKB - P37058 (DHB3_HUMAN)

Entry version 200 (23 Feb 2022)
Sequence version 2 (01 Nov 1995)
Previous versions | rss
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Protein

17-beta-hydroxysteroid dehydrogenase type 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

Catalyzes the conversion of 17-oxosteroids to 17beta-hydroxysteroids (PubMed:8075637, PubMed:16216911, PubMed:27927697, PubMed:26545797).

Favors the reduction of androstenedione to testosterone (PubMed:16216911, PubMed:27927697, PubMed:26545797).

Testosterone is the key androgen driving male development and function (PubMed:8075637).

Uses NADPH while the two other EDH17B enzymes use NADH (PubMed:26545797, PubMed:8075637, PubMed:16216911).

Androgens such as epiandrosterone, dehydroepiandrosterone, androsterone and androstanedione are accepted as substrates and reduced at C-17 (PubMed:16216911).

Can reduce 11-ketoandrostenedione as well as 11beta-hydroxyandrostenedione at C-17 to the respective testosterone forms (PubMed:16216911, PubMed:27927697).

4 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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%5Fsection">'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.2 Publications
View all proteins of this organism that are known to be involved in the pathway testosterone biosynthesis and in Hormone biosynthesis.

Pathwayi: Steroid metabolism

This protein is involved in Steroid metabolism.Curated
View all proteins of this organism that are known to be involved in Steroid metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> 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 <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> 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 <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> 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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		1.1.1.51, 2681
1.1.1.64, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P37058

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

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		P37058

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%5Fand%5Ftaxonomy%5Fsection">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:
17-beta-hydroxysteroid dehydrogenase type 3
Short name:
17-beta-HSD 31 Publication
Alternative name(s):
Estradiol 17-beta-dehydrogenase 2 (EC:1.1.1.621 Publication)
Short chain dehydrogenase/reductase family 12C member 2
Testicular 17-beta-hydroxysteroid dehydrogenase
Testosterone 17-beta-dehydrogenase 3Curated (EC:1.1.1.644 Publications)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:HSD17B3Imported
Synonyms:EDH17B3, SDR12C2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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

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

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000130948

<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

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 variants 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.
Related information in OMIM
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; ; almost complete loss of testosterone 17-beta-dehydrogenase (NADP(+)) activity. 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; loss of testosterone 17-beta-dehydrogenase (NADP(+)) activity. 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; almost complete loss of testosterone 17-beta-dehydrogenase (NADP(+)) activity. 1 PublicationCorresponds to variant dbSNP:rs28939085EnsemblClinVar.1
Natural variantiVAR_006957235M → V in MPH; almost complete loss of testosterone 17-beta-dehydrogenase (NADP(+)) activity. 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%5Fand%5Fbiotech%5Fsection">'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 variant, 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

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P37058, Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL4234

Drug and drug target database

More...DrugBanki		DB00157, NADH

DrugCentral

More...DrugCentrali		P37058

Genetic variation 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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000545731 – 31017-beta-hydroxysteroid dehydrogenase type 3Add BLAST310

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P37058

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

More...PaxDbi		P37058

PeptideAtlas

More...PeptideAtlasi		P37058

PRoteomics IDEntifications database

More...PRIDEi		P37058

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		55255 [P37058-1]
65223

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.

More...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.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000130948, Expressed in right testis and 124 other tissues

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		ENSG00000130948, Tissue enhanced (liver, testis)

<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)

More...BioGRIDi		109526, 28 interactors

Protein interaction database and analysis system

More...IntActi		P37058, 19 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

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P37058, protein

<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

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P37058

Database of comparative protein structure models

More...ModBasei		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

Belongs to the short-chain dehydrogenases/reductases (SDR) family. 17-beta-HSD 3 subfamily.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1014, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000160266

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_010194_38_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P37058

Identification of Orthologs from Complete Genome Data

More...OMAi		GNMPIPN

Database of Orthologous Groups

More...OrthoDBi		288325at2759

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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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

This entry has 2 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P37058-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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.

Show »
Length:260
Mass (Da):29,109
Checksum:i81CBF73E81169EF1
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A3B3ITT4A0A3B3ITT4_HUMAN
Testosterone 17-beta-dehydrogenase ...
HSD17B3
245Annotation score:

Annotation score:1 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>
A0A0S2Z3U6A0A0S2Z3U6_HUMAN
Hydroxysteroid dehydrogenase 3 isof...
HSD17B3
284Annotation score:

Annotation score:1 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>
A0A0S2Z3V7A0A0S2Z3V7_HUMAN
Hydroxysteroid dehydrogenase 3 isof...
HSD17B3
157Annotation score:

Annotation score:1 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>
A0A3B3ITW2A0A3B3ITW2_HUMAN
Testosterone 17-beta-dehydrogenase ...
HSD17B3
74Annotation score:

Annotation score:1 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>
A0A0S2Z413A0A0S2Z413_HUMAN
Hydroxysteroid dehydrogenase 3 isof...
HSD17B3
192Annotation score:

Annotation score:1 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>
A0A0S2Z406A0A0S2Z406_HUMAN
Hydroxysteroid dehydrogenase 3 isof...
HSD17B3
108Annotation score:

Annotation score:1 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>

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; ; almost complete loss of testosterone 17-beta-dehydrogenase (NADP(+)) activity. 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; loss of testosterone 17-beta-dehydrogenase (NADP(+)) activity. 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; almost complete loss of testosterone 17-beta-dehydrogenase (NADP(+)) activity. 1 PublicationCorresponds to variant dbSNP:rs28939085EnsemblClinVar.1
Natural variantiVAR_006957235M → V in MPH; almost complete loss of testosterone 17-beta-dehydrogenase (NADP(+)) activity. 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.<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

More...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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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

Database of genes from NCBI RefSeq genomes

More...GeneIDi		3293

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:3293

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000375263.8; ENSP00000364412.3; NM_000197.2; NP_000188.1

UCSC genome browser

More...UCSCi		uc010msc.1, human [P37058-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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%5Freferences%5Fsection">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]

3D structure databases

SMRiP37058
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi109526, 28 interactors
IntActiP37058, 19 interactors
MINTiP37058
STRINGi9606.ENSP00000364412

Chemistry databases

BindingDBiP37058
ChEMBLiCHEMBL4234
DrugBankiDB00157, NADH
DrugCentraliP37058
SwissLipidsiSLP:000001270 [P37058-1]

PTM databases

iPTMnetiP37058
PhosphoSitePlusiP37058

Genetic variation databases

BioMutaiHSD17B3
DMDMi1169300

Proteomic databases

MassIVEiP37058
PaxDbiP37058
PeptideAtlasiP37058
PRIDEiP37058
ProteomicsDBi55255 [P37058-1]
65223

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		3099, 192 antibodies from 26 providers

The DNASU plasmid repository

More...DNASUi		3293

Genome annotation databases

EnsembliENST00000375262; ENSP00000364411; ENSG00000130948 [P37058-2]
ENST00000375263; ENSP00000364412; ENSG00000130948
GeneIDi3293
KEGGihsa:3293
MANE-SelectiENST00000375263.8; ENSP00000364412.3; NM_000197.2; NP_000188.1
UCSCiuc010msc.1, human [P37058-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		3293
DisGeNETi3293

GeneCards: human genes, protein and diseases

More...GeneCardsi		HSD17B3
HGNCiHGNC:5212, HSD17B3
HPAiENSG00000130948, Tissue enhanced (liver, testis)
MalaCardsiHSD17B3
MIMi264300, phenotype
605573, gene
neXtProtiNX_P37058
OpenTargetsiENSG00000130948
Orphaneti752, 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
PharmGKBiPA29480
VEuPathDBiHostDB:ENSG00000130948

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1014, Eukaryota
GeneTreeiENSGT00940000160266
HOGENOMiCLU_010194_38_0_1
InParanoidiP37058
OMAiGNMPIPN
OrthoDBi288325at2759
PhylomeDBiP37058
TreeFamiTF314591

Enzyme and pathway databases

UniPathwayiUPA00367
BRENDAi1.1.1.51, 2681
1.1.1.64, 2681
PathwayCommonsiP37058
ReactomeiR-HSA-193048, Androgen biosynthesis
R-HSA-75876, Synthesis of very long-chain fatty acyl-CoAs
SignaLinkiP37058

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		3293, 2 hits in 1032 CRISPR screens

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

More...ChiTaRSi		HSD17B3, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		HSD17B3_(gene)

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

More...GenomeRNAii		3293
PharosiP37058, Tchem

Protein Ontology

More...PROi		PR:P37058
RNActiP37058, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000130948, Expressed in right testis and 124 other tissues
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

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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%5Fand%5Fisoforms">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: February 23, 2022
This is version 200 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

Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families
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