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UniProtKB - Q9H2F3 (3BHS7_HUMAN)

Protein

3 beta-hydroxysteroid dehydrogenase type 7

Gene

HSD3B7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

3-beta-hydroxy-Delta5-steroid + NAD+ = 3-oxo-Delta5-steroid + NADH.
Cholest-5-ene-3-beta,7-alpha-diol + NAD+ = 7-alpha-hydroxycholest-4-en-3-one + NADH.

Pathwayi: steroid biosynthesis

This protein is involved in the pathway steroid biosynthesis, which is part of Lipid metabolism.
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
Active sitei159Proton acceptorBy similarity1
Binding sitei163NADBy similarity1

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

  • B cell chemotaxis Source: UniProtKB
  • bile acid biosynthetic process Source: UniProtKB
View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionOxidoreductase
Biological processSteroidogenesis
LigandNAD

Enzyme and pathway databases

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
UniPathwayi
UPA00062

Chemistry databases

SwissLipidsiSLP:000001321

Names & Taxonomyi

Protein namesi
Recommended name:
3 beta-hydroxysteroid dehydrogenase type 7
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:1.1.1.181)
Gene namesi
Name:HSD3B7
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000099377.13
HGNCiHGNC:18324 HSD3B7
MIMi607764 gene
neXtProtiNX_Q9H2F3

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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei289 – 309HelicalSequence analysisAdd BLAST21
Transmembranei311 – 331HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Congenital bile acid synthesis defect 1 (CBAS1)2 Publications
The disease is caused by mutations 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.
See also OMIM:607765
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

Keywords - Diseasei

Disease mutation, Intrahepatic cholestasis

Organism-specific databases

DisGeNETi80270
MalaCardsiHSD3B7
MIMi607765 phenotype
OpenTargetsiENSG00000099377
Orphaneti79301 Congenital bile acid synthesis defect type 1
PharmGKBiPA134940289

Polymorphism and mutation databases

BioMutaiHSD3B7
DMDMi47605550

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000877911 – 3693 beta-hydroxysteroid dehydrogenase type 7Add BLAST369

Proteomic databases

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

PTM databases

iPTMnetiQ9H2F3
PhosphoSitePlusiQ9H2F3

Expressioni

Gene expression databases

BgeeiENSG00000099377 Expressed in 117 organ(s), highest expression level in right lobe of liver
CleanExiHS_HSD3B7
ExpressionAtlasiQ9H2F3 baseline and differential
GenevisibleiQ9H2F3 HS

Organism-specific databases

HPAiHPA050521
HPA060847

Interactioni

Binary interactionsi

Protein-protein interaction databases

BioGridi123208, 14 interactors
IntActiQ9H2F3, 53 interactors
STRINGi9606.ENSP00000297679

Structurei

3D structure databases

ProteinModelPortaliQ9H2F3
SMRiQ9H2F3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the 3-beta-HSD family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1430 Eukaryota
COG0451 LUCA
GeneTreeiENSGT00550000074557
HOGENOMiHOG000167989
HOVERGENiHBG000014
InParanoidiQ9H2F3
KOiK12408
OMAiNGRKVHG
OrthoDBiEOG091G09QZ
PhylomeDBiQ9H2F3
TreeFamiTF354279

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, 2 hits

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 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 '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
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
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

Note: No experimental confirmation available.
Show »
Length:196
Mass (Da):21,322
Checksum:i71BD3348FED27107
GO

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:
I3L2Q9I3L2Q9_HUMAN
3 beta-hydroxysteroid dehydrogenase...
HSD3B7
219Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
Alternative sequenceiVSP_042658178 – 369VRGGL…TGSAQ → AMLPGCTCWQPGSWSSGQP in isoform 2. 1 PublicationAdd BLAST192

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]
UniGeneiHs.460618

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar 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
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]
UniGeneiHs.460618

3D structure databases

ProteinModelPortaliQ9H2F3
SMRiQ9H2F3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123208, 14 interactors
IntActiQ9H2F3, 53 interactors
STRINGi9606.ENSP00000297679

Chemistry databases

SwissLipidsiSLP:000001321

PTM databases

iPTMnetiQ9H2F3
PhosphoSitePlusiQ9H2F3

Polymorphism and mutation databases

BioMutaiHSD3B7
DMDMi47605550

Proteomic databases

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

Protocols and materials databases

DNASUi80270
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi80270
DisGeNETi80270
EuPathDBiHostDB:ENSG00000099377.13
GeneCardsiHSD3B7
H-InvDBiHIX0038797
HGNCiHGNC:18324 HSD3B7
HPAiHPA050521
HPA060847
MalaCardsiHSD3B7
MIMi607764 gene
607765 phenotype
neXtProtiNX_Q9H2F3
OpenTargetsiENSG00000099377
Orphaneti79301 Congenital bile acid synthesis defect type 1
PharmGKBiPA134940289
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1430 Eukaryota
COG0451 LUCA
GeneTreeiENSGT00550000074557
HOGENOMiHOG000167989
HOVERGENiHBG000014
InParanoidiQ9H2F3
KOiK12408
OMAiNGRKVHG
OrthoDBiEOG091G09QZ
PhylomeDBiQ9H2F3
TreeFamiTF354279

Enzyme and pathway databases

UniPathwayi
UPA00062

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

GenomeRNAii80270
PROiPR:Q9H2F3
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000099377 Expressed in 117 organ(s), highest expression level in right lobe of liver
CleanExiHS_HSD3B7
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, 2 hits
ProtoNetiSearch...

Entry informationi

Entry namei3BHS7_HUMAN
AccessioniPrimary (citable) accession number: Q9H2F3
Secondary accession number(s): Q96M28, Q9BSN9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 24, 2004
Last sequence update: May 24, 2004
Last modified: September 12, 2018
This is version 148 of the entry and version 2 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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