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UniProtKB - Q9H2F3 (3BHS7_HUMAN)

Entry version 165 (07 Apr 2021)
Sequence version 2 (24 May 2004)
Previous versions | rss
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Protein

3 beta-hydroxysteroid dehydrogenase type 7

Gene

HSD3B7

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

The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids. HSD VII is active against four 7-alpha-hydroxylated sterols. Does not metabolize several different C(19/21) steroids as substrates. Involved in bile acid synthesis (PubMed:11067870). Plays a key role in cell positioning and movement in lymphoid tissues by mediating degradation of 7-alpha,25-dihydroxycholesterol (7-alpha,25-OHC): 7-alpha,25-OHC acts as a ligand for the G protein-coupled receptor GPR183/EBI2, a chemotactic receptor for a number of lymphoid cells.By similarity1 Publication

<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: steroid biosynthesis

This protein is involved in the pathway steroid biosynthesis, which is part of Lipid metabolism.1 Publication
View all proteins of this organism that are known to be involved in the pathway steroid biosynthesis and in Lipid metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 sitei159Proton acceptorBy similarity1
<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 sitei163NADBy similarity1

<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

  • B cell chemotaxis Source: UniProtKB
  • bile acid biosynthetic process Source: UniProtKB
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 processSteroidogenesis
LigandNAD

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9H2F3

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-193368, Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
R-HSA-193775, Synthesis of bile acids and bile salts via 24-hydroxycholesterol
R-HSA-193807, Synthesis of bile acids and bile salts via 27-hydroxycholesterol

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

More...UniPathwayi		UPA00062

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...SwissLipidsi		SLP:000001321

<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:
3 beta-hydroxysteroid dehydrogenase type 7Curated
Alternative name(s):
3 beta-hydroxysteroid dehydrogenase type VII
Short name:
3-beta-HSD VII
3-beta-hydroxy-Delta(5)-C27 steroid oxidoreductase (EC:1.1.1.-)
Short name:
C(27) 3-beta-HSD
Cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase (EC:1.1.1.1811 Publication)
<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:HSD3B7Imported
<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 16

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:18324, HSD3B7

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		607764, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9H2F3

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000099377.13

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei289 – 309HelicalSequence analysisAdd BLAST21
Transmembranei311 – 331HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

<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

Congenital bile acid synthesis defect 1 (CBAS1)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA primary defect in bile synthesis leading to progressive liver disease. Clinical features include neonatal jaundice, severe intrahepatic cholestasis, cirrhosis.
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_05477519G → S in CBAS1. 1 Publication1
Natural variantiVAR_054776147E → K in CBAS1; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs104894518EnsemblClinVar.1

Keywords - Diseasei

Disease variant, Intrahepatic cholestasis

Organism-specific databases

DisGeNET

More...DisGeNETi		80270

MalaCards human disease database

More...MalaCardsi		HSD3B7
MIMi607765, phenotype

Open Targets

More...OpenTargetsi		ENSG00000099377

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

More...Orphaneti		79301, Congenital bile acid synthesis defect type 1

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134940289

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9H2F3, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		HSD3B7

Domain mapping of disease mutations (DMDM)

More...DMDMi		47605550

<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_00000877911 – 3693 beta-hydroxysteroid dehydrogenase type 7Add BLAST369

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9H2F3

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9H2F3

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9H2F3

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9H2F3

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

More...PaxDbi		Q9H2F3

PeptideAtlas

More...PeptideAtlasi		Q9H2F3

PRoteomics IDEntifications database

More...PRIDEi		Q9H2F3

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		80538 [Q9H2F3-1]
80539 [Q9H2F3-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9H2F3

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

More...PhosphoSitePlusi		Q9H2F3

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000099377, Expressed in muscle tissue and 140 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9H2F3, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9H2F3, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000099377, Tissue enhanced (liver)

<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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details
Q9H2F3
With#Exp.IntAct
ADAMTSL4 - isoform 3 [Q6UY14-3]3EBI-3918847,EBI-10173507
AGR2 [O95994]3EBI-3918847,EBI-712648
ANAPC11 - isoform 2 [Q9NYG5-2]3EBI-3918847,EBI-12224467
APPBP2 [Q92624]3EBI-3918847,EBI-743771
ARID5A [Q03989]3EBI-3918847,EBI-948603
ASB12 - isoform 2 [Q8WXK4-2]3EBI-3918847,EBI-18394052
BTN2A2 [Q8WVV5]3EBI-3918847,EBI-8648738
C22orf39 [Q6P5X5]3EBI-3918847,EBI-7317823
COMT [P21964]3EBI-3918847,EBI-372265
CREB5 - isoform 3 [Q02930-3]3EBI-3918847,EBI-10192698
CYSRT1 [A8MQ03]3EBI-3918847,EBI-3867333
EFEMP1 [Q12805]3EBI-3918847,EBI-536772
EFEMP2 [O95967]3EBI-3918847,EBI-743414
EGFL7 [Q9UHF1]3EBI-3918847,EBI-949532
ELOVL4 [Q9GZR5]3EBI-3918847,EBI-18535450
EMG1 [Q92979]3EBI-3918847,EBI-718638
FBLN2 [P98095]3EBI-3918847,EBI-947973
GLRX3 [O76003]3EBI-3918847,EBI-374781
HOXA1 [P49639]3EBI-3918847,EBI-740785
HSD17B13 [Q7Z5P4]3EBI-3918847,EBI-18053395
KPNA4 [O00629]3EBI-3918847,EBI-396343
KPRP [Q5T749]3EBI-3918847,EBI-10981970
KRT31 [Q15323]3EBI-3918847,EBI-948001
KRT40 [Q6A162]3EBI-3918847,EBI-10171697
KRT86 [O43790]3EBI-3918847,EBI-9996498
KRTAP10-7 [P60409]3EBI-3918847,EBI-10172290
KRTAP10-8 [P60410]8EBI-3918847,EBI-10171774
KRTAP10-9 [P60411]3EBI-3918847,EBI-10172052
KRTAP13-3 [Q3SY46]3EBI-3918847,EBI-10241252
KRTAP19-2 [Q3LHN2]3EBI-3918847,EBI-12196745
KRTAP4-2 [Q9BYR5]3EBI-3918847,EBI-10172511
KRTAP5-9 [P26371]3EBI-3918847,EBI-3958099
LCE4A [Q5TA78]3EBI-3918847,EBI-10246358
LINGO1 [Q96FE5]3EBI-3918847,EBI-719955
MEI4 [A8MW99]3EBI-3918847,EBI-19944212
MEOX2 [Q6FHY5]3EBI-3918847,EBI-16439278
NOTCH2NLA [Q7Z3S9]3EBI-3918847,EBI-945833
NR4A3 [Q92570]3EBI-3918847,EBI-13644623
OTX2 - isoform 2 [P32243-2]3EBI-3918847,EBI-9087860
RBP3 [P10745]3EBI-3918847,EBI-12806054
REEP4 [Q9H6H4]3EBI-3918847,EBI-7545592
RGS17 [Q9UGC6]3EBI-3918847,EBI-3918154
RUSF1 [Q96GQ5]3EBI-3918847,EBI-8636004
SPRY2 [O43597]3EBI-3918847,EBI-742487
TMX2 [Q9Y320]3EBI-3918847,EBI-6447886
TRIM42 [Q8IWZ5]5EBI-3918847,EBI-5235829
ZBTB42 [B2RXF5]3EBI-3918847,EBI-12287587
ZNF655 [Q8N720]3EBI-3918847,EBI-625509

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		123208, 62 interactors

Protein interaction database and analysis system

More...IntActi		Q9H2F3, 52 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000297679

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9H2F3, protein

<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 3-beta-HSD family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1430, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000160236

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_007383_6_3_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9H2F3

Identification of Orthologs from Complete Genome Data

More...OMAi		GDHFKRG

Database of Orthologous Groups

More...OrthoDBi		930591at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9H2F3

TreeFam database of animal gene trees

More...TreeFami		TF354279

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR002225, 3Beta_OHSteriod_DH/Estase
IPR036291, NAD(P)-bd_dom_sf

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01073, 3Beta_HSD, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF51735, SSF51735, 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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<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 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9H2F3-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><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
MADSAQAQKL VYLVTGGCGF LGEHVVRMLL QREPRLGELR VFDQHLGPWL 
        60         70         80         90        100
EELKTGPVRV TAIQGDVTQA HEVAAAVAGA HVVIHTAGLV DVFGRASPKT 
       110        120        130        140        150
IHEVNVQGTR NVIEACVQTG TRFLVYTSSM EVVGPNTKGH PFYRGNEDTP 
       160        170        180        190        200
YEAVHRHPYP CSKALAEWLV LEANGRKVRG GLPLVTCALR PTGIYGEGHQ 
       210        220        230        240        250
IMRDFYRQGL RLGGWLFRAI PASVEHGRVY VGNVAWMHVL AARELEQRAT 
       260        270        280        290        300
LMGGQVYFCY DGSPYRSYED FNMEFLGPCG LRLVGARPLL PYWLLVFLAA 
       310        320        330        340        350
LNALLQWLLR PLVLYAPLLN PYTLAVANTT FTVSTDKAQR HFGYEPLFSW 
       360 
EDSRTRTILW VQAATGSAQ
Length:369
Mass (Da):41,016
Last modified:May 24, 2004 - 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:i7254A5DAAFAC23E7
GO
Isoform 2 (identifier: Q9H2F3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     178-369: VRGGLPLVTC...WVQAATGSAQ → AMLPGCTCWQPGSWSSGQP

Show »
Length:196
Mass (Da):21,322
Checksum:i71BD3348FED27107
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
I3L2H6I3L2H6_HUMAN
3 beta-hydroxysteroid dehydrogenase...
HSD3B7
176Annotation 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>
I3L2Q9I3L2Q9_HUMAN
3 beta-hydroxysteroid dehydrogenase...
HSD3B7
219Annotation 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>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti265Y → H in AAG37824 (PubMed:11067870).Curated1
Sequence conflicti329T → A in AAG37824 (PubMed:11067870).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05477519G → S in CBAS1. 1 Publication1
Natural variantiVAR_054776147E → K in CBAS1; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs104894518EnsemblClinVar.1
Natural variantiVAR_031040250T → A1 PublicationCorresponds to variant dbSNP:rs9938550EnsemblClinVar.1
Natural variantiVAR_048100347L → P. Corresponds to variant dbSNP:rs34212827EnsemblClinVar.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_042658178 – 369VRGGL…TGSAQ → AMLPGCTCWQPGSWSSGQP in isoform 2. 1 PublicationAdd BLAST192

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
AF277719 mRNA Translation: AAG37824.1
AK057436 mRNA Translation: BAB71486.1
AK290950 mRNA Translation: BAF83639.1
AK292068 mRNA Translation: BAF84757.1
AC135048 Genomic DNA No translation available.
CH471192 Genomic DNA Translation: EAW52183.1
BC004929 mRNA Translation: AAH04929.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS10698.1 [Q9H2F3-1]
CCDS45466.1 [Q9H2F3-2]

NCBI Reference Sequences

More...RefSeqi		NP_001136249.1, NM_001142777.1 [Q9H2F3-2]
NP_001136250.1, NM_001142778.1 [Q9H2F3-2]
NP_079469.2, NM_025193.3 [Q9H2F3-1]
XP_005255658.2, XM_005255601.3 [Q9H2F3-1]
XP_011544262.1, XM_011545960.2 [Q9H2F3-1]
XP_011544263.1, XM_011545961.1 [Q9H2F3-1]
XP_011544264.1, XM_011545962.2 [Q9H2F3-2]
XP_016879221.1, XM_017023732.1 [Q9H2F3-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000262520; ENSP00000262520; ENSG00000099377 [Q9H2F3-2]
ENST00000297679; ENSP00000297679; ENSG00000099377 [Q9H2F3-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		80270

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:80270

UCSC genome browser

More...UCSCi		uc002eaf.3, human [Q9H2F3-1]

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF277719 mRNA Translation: AAG37824.1
AK057436 mRNA Translation: BAB71486.1
AK290950 mRNA Translation: BAF83639.1
AK292068 mRNA Translation: BAF84757.1
AC135048 Genomic DNA No translation available.
CH471192 Genomic DNA Translation: EAW52183.1
BC004929 mRNA Translation: AAH04929.1
CCDSiCCDS10698.1 [Q9H2F3-1]
CCDS45466.1 [Q9H2F3-2]
RefSeqiNP_001136249.1, NM_001142777.1 [Q9H2F3-2]
NP_001136250.1, NM_001142778.1 [Q9H2F3-2]
NP_079469.2, NM_025193.3 [Q9H2F3-1]
XP_005255658.2, XM_005255601.3 [Q9H2F3-1]
XP_011544262.1, XM_011545960.2 [Q9H2F3-1]
XP_011544263.1, XM_011545961.1 [Q9H2F3-1]
XP_011544264.1, XM_011545962.2 [Q9H2F3-2]
XP_016879221.1, XM_017023732.1 [Q9H2F3-2]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi123208, 62 interactors
IntActiQ9H2F3, 52 interactors
STRINGi9606.ENSP00000297679

Chemistry databases

SwissLipidsiSLP:000001321

PTM databases

iPTMnetiQ9H2F3
PhosphoSitePlusiQ9H2F3

Genetic variation databases

BioMutaiHSD3B7
DMDMi47605550

Proteomic databases

EPDiQ9H2F3
jPOSTiQ9H2F3
MassIVEiQ9H2F3
MaxQBiQ9H2F3
PaxDbiQ9H2F3
PeptideAtlasiQ9H2F3
PRIDEiQ9H2F3
ProteomicsDBi80538 [Q9H2F3-1]
80539 [Q9H2F3-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		27526, 185 antibodies

The DNASU plasmid repository

More...DNASUi		80270

Genome annotation databases

EnsembliENST00000262520; ENSP00000262520; ENSG00000099377 [Q9H2F3-2]
ENST00000297679; ENSP00000297679; ENSG00000099377 [Q9H2F3-1]
GeneIDi80270
KEGGihsa:80270
UCSCiuc002eaf.3, human [Q9H2F3-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		80270
DisGeNETi80270

GeneCards: human genes, protein and diseases

More...GeneCardsi		HSD3B7
HGNCiHGNC:18324, HSD3B7
HPAiENSG00000099377, Tissue enhanced (liver)
MalaCardsiHSD3B7
MIMi607764, gene
607765, phenotype
neXtProtiNX_Q9H2F3
OpenTargetsiENSG00000099377
Orphaneti79301, Congenital bile acid synthesis defect type 1
PharmGKBiPA134940289
VEuPathDBiHostDB:ENSG00000099377.13

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1430, Eukaryota
GeneTreeiENSGT00940000160236
HOGENOMiCLU_007383_6_3_1
InParanoidiQ9H2F3
OMAiGDHFKRG
OrthoDBi930591at2759
PhylomeDBiQ9H2F3
TreeFamiTF354279

Enzyme and pathway databases

UniPathwayiUPA00062
PathwayCommonsiQ9H2F3
ReactomeiR-HSA-193368, Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
R-HSA-193775, Synthesis of bile acids and bile salts via 24-hydroxycholesterol
R-HSA-193807, Synthesis of bile acids and bile salts via 27-hydroxycholesterol

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		80270, 5 hits in 980 CRISPR screens

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

More...ChiTaRSi		HSD3B7, human

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

More...GenomeRNAii		80270
PharosiQ9H2F3, Tbio

Protein Ontology

More...PROi		PR:Q9H2F3
RNActiQ9H2F3, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000099377, Expressed in muscle tissue and 140 other tissues
ExpressionAtlasiQ9H2F3, baseline and differential
GenevisibleiQ9H2F3, HS

Family and domain databases

InterProiView protein in InterPro
IPR002225, 3Beta_OHSteriod_DH/Estase
IPR036291, NAD(P)-bd_dom_sf
PfamiView protein in Pfam
PF01073, 3Beta_HSD, 1 hit
SUPFAMiSSF51735, SSF51735, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

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 namei3BHS7_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: Q9H2F3
Secondary accession number(s): Q96M28, Q9BSN9
<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: May 24, 2004
Last sequence update: May 24, 2004
Last modified: April 7, 2021
This is version 165 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 16
    Human chromosome 16: 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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