Q9H2F3 (3BHS7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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
Short name=C(27) 3-beta-HSD
EC=1.1.1.-
Cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase
EC=1.1.1.181

Gene names

Name:

HSD3B7

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	369 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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.
Catalytic activity	3-beta-hydroxy-Delta(5)-steroid + NAD+ = 3-oxo-Delta(5)-steroid + NADH. Cholest-5-ene-3-beta,7-alpha-diol + NAD+ = 7-alpha-hydroxycholest-4-en-3-one + NADH.
Pathway	Lipid metabolism; steroid biosynthesis.
Subcellular location	Endoplasmic reticulum membrane; Multi-pass membrane protein.
Involvement in disease	Defects in HSD3B7 are the cause of congenital bile acid synthesis defect type 1 (CBAS1) [MIM:607765]; also known as neonatal progressive intrahepatic cholestasis. CBAS1 is due to a primary defect in bile synthesis leading to progressive liver disease. Clinical features include neonatal jaundice, severe intrahepatic cholestasis and cirrhosis. Ref.1 Ref.3
Sequence similarities	Belongs to the 3-beta-HSD family.

Ontologies

Keywords
Biological process	Steroidogenesis
Cellular component	Endoplasmic reticulum Membrane
Coding sequence diversity	Polymorphism
Disease	Disease mutation Intrahepatic cholestasis
Domain	Transmembrane Transmembrane helix
Ligand	NAD
Molecular function	Oxidoreductase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	bile acid biosynthetic process Traceable author statement Ref.1. Source: UniProtKB
Cellular component	endoplasmic reticulum membrane Traceable author statement. Source: Reactome integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	3-beta-hydroxy-delta5-steroid dehydrogenase activity Non-traceable author statement Ref.1. Source: UniProtKB cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity Inferred from electronic annotation. Source: EC nucleotide binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 369	369	3 beta-hydroxysteroid dehydrogenase type 7		PRO_0000087791
Regions
	Transmembrane	289 – 309	21	Helical; Potential
	Transmembrane	311 – 331	21	Helical; Potential
Sites
	Active site	159	1	Proton acceptor By similarity
	Binding site	163	1	NAD By similarity
Natural variations
	Natural variant	19	1	G → S in CBAS1. Ref.3		VAR_054775
	Natural variant	147	1	E → K in CBAS1; loss of activity. Ref.3		VAR_054776
	Natural variant	250	1	T → A. Ref.1 Corresponds to variant rs9938550 [ dbSNP | Ensembl ].		VAR_031040
	Natural variant	347	1	L → P. Corresponds to variant rs34212827 [ dbSNP | Ensembl ].		VAR_048100
Experimental info
	Sequence conflict	265	1	Y → H in AAG37824. Ref.1
	Sequence conflict	329	1	T → A in AAG37824. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q9H2F3 [UniParc]. Last modified May 24, 2004. Version 2. Checksum: 7254A5DAAFAC23E7	FASTA	369	41,016
	10 20 30 40 50 60 MADSAQAQKL VYLVTGGCGF LGEHVVRMLL QREPRLGELR VFDQHLGPWL EELKTGPVRV 70 80 90 100 110 120 TAIQGDVTQA HEVAAAVAGA HVVIHTAGLV DVFGRASPKT IHEVNVQGTR NVIEACVQTG 130 140 150 160 170 180 TRFLVYTSSM EVVGPNTKGH PFYRGNEDTP YEAVHRHPYP CSKALAEWLV LEANGRKVRG 190 200 210 220 230 240 GLPLVTCALR PTGIYGEGHQ IMRDFYRQGL RLGGWLFRAI PASVEHGRVY VGNVAWMHVL 250 260 270 280 290 300 AARELEQRAT LMGGQVYFCY DGSPYRSYED FNMEFLGPCG LRLVGARPLL PYWLLVFLAA 310 320 330 340 350 360 LNALLQWLLR PLVLYAPLLN PYTLAVANTT FTVSTDKAQR HFGYEPLFSW EDSRTRTILW VQAATGSAQ

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The bile acid synthetic gene 3beta-hydroxy-delta(5)-C(27)-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis." Schwarz M., Wright A.C., Davis D.L., Nazer H., Bjorkhem I., Russell D.W. J. Clin. Invest. 106:1175-1184(2000) [PubMed: 11067870] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], INVOLVEMENT IN CBAS1, VARIANT ALA-250.
[2]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Uterus.
[3]	"Molecular genetics of 3beta-hydroxy-Delta5-C27-steroid oxidoreductase deficiency in 16 patients with loss of bile acid synthesis and liver disease." Cheng J.B., Jacquemin E., Gerhardt M., Nazer H., Cresteil D., Heubi J.E., Setchell K.D., Russell D.W. J. Clin. Endocrinol. Metab. 88:1833-1841(2003) [PubMed: 12679481] [Abstract] Cited for: VARIANTS CBAS1 SER-19 AND LYS-147, CHARACTERIZATION OF VARIANT CBAS1 LYS-147.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF277719 mRNA. Translation: AAG37824.1. BC004929 mRNA. Translation: AAH04929.1.
IPI	IPI00106783.
RefSeq	NP_079469.2. NM_025193.3.
UniGene	Hs.460618.
3D structure databases
ProteinModelPortal	Q9H2F3.
SMR	Q9H2F3. Positions 10-365.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9H2F3. 3 interactions.
STRING	Q9H2F3.
PTM databases
PhosphoSite	Q9H2F3.
Polymorphism databases
DMDM	47605550.
Proteomic databases
PRIDE	Q9H2F3.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000297679; ENSP00000297679; ENSG00000099377. ENST00000353250; ENSP00000370662; ENSG00000099377.
GeneID	80270.
KEGG	hsa:80270.
UCSC	uc002eaf.1. human.
Organism-specific databases
CTD	80270.
GeneCards	GC16P030997.
H-InvDB	HIX0022193.
HGNC	HGNC:18324. HSD3B7.
MIM	607764. gene. 607765. phenotype.
neXtProt	NX_Q9H2F3.
Orphanet	79301. Congenital bile acid synthesis defect type 1.
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00550000074557.
HOGENOM	HBG755066.
HOVERGEN	HBG000014.
InParanoid	Q9H2F3.
OMA	EDFNMEF.
OrthoDB	EOG4N5VX7.
PhylomeDB	Q9H2F3.
Enzyme and pathway databases
Reactome	REACT_22258. Metabolism of lipids and lipoproteins.
Gene expression databases
ArrayExpress	Q9H2F3.
Bgee	Q9H2F3.
CleanEx	HS_HSD3B7.
Genevestigator	Q9H2F3.
GermOnline	ENSG00000099377. Homo sapiens.
Family and domain databases
InterPro	IPR002225. 3Beta_OHSteriod_DH/Estase. IPR016040. NAD(P)-bd_dom. [Graphical view]
Gene3D	G3DSA:3.40.50.720. NAD(P)-bd. 1 hit.
KO	K12408.
Pfam	PF01073. 3Beta_HSD. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	70733.
SOURCE	Search...

Entry information

Entry name

3BHS7_HUMAN

Accession

Primary (citable) accession number: Q9H2F3
Secondary accession number(s): Q9BSN9

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 24, 2004
Last sequence update:	May 24, 2004
Last modified:	January 25, 2012
This is version 88 of the entry and version 2 of the sequence. [Complete history]

Entry status

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.