UniProtKB - Q9H2F3 (3BHS7_HUMAN)
Protein
3 beta-hydroxysteroid dehydrogenase type 7
Gene
HSD3B7
Organism
Homo sapiens (Human)
Status
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
Catalytic activityi
- EC:1.1.1.1811 PublicationThis reaction proceeds in the forward1 Publication direction.
- This reaction proceeds in the forward1 Publication direction.
- (25R)-cholest-5-en-3β,7α,26-triol + NAD+ = (25R)-7α,26-dihydroxycholest-4-en-3-one + H+ + NADH1 PublicationThis reaction proceeds in the forward1 Publication direction.
- (24S)-7α-dihydroxycholesterol + NAD+ = (24S)-7α,24-dihydroxycholest-4-en-3-one + H+ + NADH1 PublicationThis reaction proceeds in the forward1 Publication direction.
: steroid biosynthesis Pathwayi
This protein is involved in the pathway steroid biosynthesis, which is part of Lipid metabolism.1 PublicationView all proteins of this organism that are known to be involved in the pathway steroid biosynthesis and in Lipid metabolism.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Active sitei | 159 | Proton acceptorBy similarity | 1 | |
Binding sitei | 163 | NADBy similarity | 1 |
GO - Molecular functioni
- 3-beta-hydroxy-delta5-steroid dehydrogenase activity Source: UniProtKB
- cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity Source: UniProtKB
- oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor Source: GO_Central
GO - Biological processi
- B cell chemotaxis Source: UniProtKB
- bile acid biosynthetic process Source: UniProtKB
Keywordsi
Molecular function | Oxidoreductase |
Biological process | Steroidogenesis |
Ligand | NAD |
Enzyme and pathway databases
PathwayCommonsi | Q9H2F3 |
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 |
UniPathwayi | UPA00062 |
Chemistry databases
SwissLipidsi | SLP:000001321 |
Names & Taxonomyi
Protein namesi | Recommended name: 3 beta-hydroxysteroid dehydrogenase type 7CuratedAlternative name(s): |
Gene namesi | Name:HSD3B7Imported |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:18324, HSD3B7 |
MIMi | 607764, gene |
neXtProti | NX_Q9H2F3 |
VEuPathDBi | HostDB:ENSG00000099377.13 |
Subcellular locationi
Endoplasmic reticulum
Endoplasmic reticulum
- endoplasmic reticulum membrane Source: Reactome
Other locations
- integral component of membrane Source: UniProtKB-KW
- lipid droplet Source: HPA
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 289 – 309 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 311 – 331 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
Endoplasmic reticulum, MembranePathology & Biotechi
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 OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_054775 | 19 | G → S in CBAS1. 1 Publication | 1 | |
Natural variantiVAR_054776 | 147 | E → K in CBAS1; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs104894518EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variant, Intrahepatic cholestasisOrganism-specific databases
DisGeNETi | 80270 |
MalaCardsi | HSD3B7 |
MIMi | 607765, phenotype |
OpenTargetsi | ENSG00000099377 |
Orphaneti | 79301, Congenital bile acid synthesis defect type 1 |
PharmGKBi | PA134940289 |
Miscellaneous databases
Pharosi | Q9H2F3, Tbio |
Genetic variation databases
BioMutai | HSD3B7 |
DMDMi | 47605550 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000087791 | 1 – 369 | 3 beta-hydroxysteroid dehydrogenase type 7Add BLAST | 369 |
Proteomic databases
EPDi | Q9H2F3 |
jPOSTi | Q9H2F3 |
MassIVEi | Q9H2F3 |
MaxQBi | Q9H2F3 |
PaxDbi | Q9H2F3 |
PeptideAtlasi | Q9H2F3 |
PRIDEi | Q9H2F3 |
ProteomicsDBi | 80538 [Q9H2F3-1] 80539 [Q9H2F3-2] |
PTM databases
iPTMneti | Q9H2F3 |
PhosphoSitePlusi | Q9H2F3 |
Expressioni
Gene expression databases
Bgeei | ENSG00000099377, Expressed in muscle tissue and 140 other tissues |
ExpressionAtlasi | Q9H2F3, baseline and differential |
Genevisiblei | Q9H2F3, HS |
Organism-specific databases
HPAi | ENSG00000099377, Tissue enhanced (liver) |
Interactioni
Binary interactionsi
Hide detailsQ9H2F3
Protein-protein interaction databases
BioGRIDi | 123208, 62 interactors |
IntActi | Q9H2F3, 52 interactors |
STRINGi | 9606.ENSP00000297679 |
Miscellaneous databases
RNActi | Q9H2F3, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the 3-beta-HSD family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG1430, Eukaryota |
GeneTreei | ENSGT00940000160236 |
HOGENOMi | CLU_007383_6_3_1 |
InParanoidi | Q9H2F3 |
OMAi | GDHFKRG |
OrthoDBi | 930591at2759 |
PhylomeDBi | Q9H2F3 |
TreeFami | TF354279 |
Family and domain databases
InterProi | View protein in InterPro IPR002225, 3Beta_OHSteriod_DH/Estase IPR036291, NAD(P)-bd_dom_sf |
Pfami | View protein in Pfam PF01073, 3Beta_HSD, 1 hit |
SUPFAMi | SSF51735, SSF51735, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis 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 sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketI3L2H6 | I3L2H6_HUMAN | 3 beta-hydroxysteroid dehydrogenase... | HSD3B7 | 176 | Annotation score: | ||
I3L2Q9 | I3L2Q9_HUMAN | 3 beta-hydroxysteroid dehydrogenase... | HSD3B7 | 219 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 265 | Y → H in AAG37824 (PubMed:11067870).Curated | 1 | |
Sequence conflicti | 329 | T → A in AAG37824 (PubMed:11067870).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_054775 | 19 | G → S in CBAS1. 1 Publication | 1 | |
Natural variantiVAR_054776 | 147 | E → K in CBAS1; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs104894518EnsemblClinVar. | 1 | |
Natural variantiVAR_031040 | 250 | T → A1 PublicationCorresponds to variant dbSNP:rs9938550EnsemblClinVar. | 1 | |
Natural variantiVAR_048100 | 347 | L → P. Corresponds to variant dbSNP:rs34212827EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_042658 | 178 – 369 | VRGGL…TGSAQ → AMLPGCTCWQPGSWSSGQP in isoform 2. 1 PublicationAdd BLAST | 192 |
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 |
CCDSi | CCDS10698.1 [Q9H2F3-1] CCDS45466.1 [Q9H2F3-2] |
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
Ensembli | ENST00000262520; ENSP00000262520; ENSG00000099377 [Q9H2F3-2] ENST00000297679; ENSP00000297679; ENSG00000099377 [Q9H2F3-1] |
GeneIDi | 80270 |
KEGGi | hsa:80270 |
UCSCi | uc002eaf.3, human [Q9H2F3-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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 |
CCDSi | CCDS10698.1 [Q9H2F3-1] CCDS45466.1 [Q9H2F3-2] |
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] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 123208, 62 interactors |
IntActi | Q9H2F3, 52 interactors |
STRINGi | 9606.ENSP00000297679 |
Chemistry databases
SwissLipidsi | SLP:000001321 |
PTM databases
iPTMneti | Q9H2F3 |
PhosphoSitePlusi | Q9H2F3 |
Genetic variation databases
BioMutai | HSD3B7 |
DMDMi | 47605550 |
Proteomic databases
EPDi | Q9H2F3 |
jPOSTi | Q9H2F3 |
MassIVEi | Q9H2F3 |
MaxQBi | Q9H2F3 |
PaxDbi | Q9H2F3 |
PeptideAtlasi | Q9H2F3 |
PRIDEi | Q9H2F3 |
ProteomicsDBi | 80538 [Q9H2F3-1] 80539 [Q9H2F3-2] |
Protocols and materials databases
Antibodypediai | 27526, 185 antibodies |
DNASUi | 80270 |
Genome annotation databases
Ensembli | ENST00000262520; ENSP00000262520; ENSG00000099377 [Q9H2F3-2] ENST00000297679; ENSP00000297679; ENSG00000099377 [Q9H2F3-1] |
GeneIDi | 80270 |
KEGGi | hsa:80270 |
UCSCi | uc002eaf.3, human [Q9H2F3-1] |
Organism-specific databases
CTDi | 80270 |
DisGeNETi | 80270 |
GeneCardsi | HSD3B7 |
HGNCi | HGNC:18324, HSD3B7 |
HPAi | ENSG00000099377, Tissue enhanced (liver) |
MalaCardsi | HSD3B7 |
MIMi | 607764, gene 607765, phenotype |
neXtProti | NX_Q9H2F3 |
OpenTargetsi | ENSG00000099377 |
Orphaneti | 79301, Congenital bile acid synthesis defect type 1 |
PharmGKBi | PA134940289 |
VEuPathDBi | HostDB:ENSG00000099377.13 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1430, Eukaryota |
GeneTreei | ENSGT00940000160236 |
HOGENOMi | CLU_007383_6_3_1 |
InParanoidi | Q9H2F3 |
OMAi | GDHFKRG |
OrthoDBi | 930591at2759 |
PhylomeDBi | Q9H2F3 |
TreeFami | TF354279 |
Enzyme and pathway databases
UniPathwayi | UPA00062 |
PathwayCommonsi | Q9H2F3 |
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 |
Miscellaneous databases
BioGRID-ORCSi | 80270, 5 hits in 980 CRISPR screens |
ChiTaRSi | HSD3B7, human |
GenomeRNAii | 80270 |
Pharosi | Q9H2F3, Tbio |
PROi | PR:Q9H2F3 |
RNActi | Q9H2F3, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000099377, Expressed in muscle tissue and 140 other tissues |
ExpressionAtlasi | Q9H2F3, baseline and differential |
Genevisiblei | Q9H2F3, HS |
Family and domain databases
InterProi | View protein in InterPro IPR002225, 3Beta_OHSteriod_DH/Estase IPR036291, NAD(P)-bd_dom_sf |
Pfami | View protein in Pfam PF01073, 3Beta_HSD, 1 hit |
SUPFAMi | SSF51735, SSF51735, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | 3BHS7_HUMAN | |
Accessioni | Q9H2F3Primary (citable) accession number: Q9H2F3 Secondary accession number(s): Q96M28, Q9BSN9 | |
Entry historyi | Integrated 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. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 16
Human chromosome 16: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - SIMILARITY comments
Index of protein domains and families