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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

GO - Biological processi

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

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
UniPathwayiUPA00062

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
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

MaxQBiQ9H2F3
PaxDbiQ9H2F3
PeptideAtlasiQ9H2F3
PRIDEiQ9H2F3
ProteomicsDBi80538
80539 [Q9H2F3-2]

PTM databases

iPTMnetiQ9H2F3
PhosphoSitePlusiQ9H2F3

Expressioni

Gene expression databases

BgeeiENSG00000099377
CleanExiHS_HSD3B7
ExpressionAtlasiQ9H2F3 baseline and differential
GenevisibleiQ9H2F3 HS

Organism-specific databases

HPAiHPA050521
HPA060847

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi123208, 14 interactors
IntActiQ9H2F3, 39 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

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

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

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: June 20, 2018
This is version 146 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. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  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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