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

Last modified July 9, 2014. Version 114. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length369 AA.
Sequence statusComplete.
Protein existenceEvidence 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

Congenital bile acid synthesis defect 1 (CBAS1) [MIM:607765]: A primary defect in bile synthesis leading to progressive liver disease. Clinical features include neonatal jaundice, severe intrahepatic cholestasis, chirrosis.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.6

Sequence similarities

Belongs to the 3-beta-HSD family.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9H2F3-1)

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.
Isoform 2 (identifier: Q9H2F3-2)

The sequence of this isoform differs from the canonical sequence as follows:
     178-369: VRGGLPLVTC...WVQAATGSAQ → AMLPGCTCWQPGSWSSGQP
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 3693693 beta-hydroxysteroid dehydrogenase type 7
PRO_0000087791

Regions

Transmembrane289 – 30921Helical; Potential
Transmembrane311 – 33121Helical; Potential

Sites

Active site1591Proton acceptor By similarity
Binding site1631NAD By similarity

Natural variations

Alternative sequence178 – 369192VRGGL…TGSAQ → AMLPGCTCWQPGSWSSGQP in isoform 2.
VSP_042658
Natural variant191G → S in CBAS1. Ref.6
VAR_054775
Natural variant1471E → K in CBAS1; loss of activity. Ref.6
VAR_054776
Natural variant2501T → A. Ref.1
Corresponds to variant rs9938550 [ dbSNP | Ensembl ].
VAR_031040
Natural variant3471L → P.
Corresponds to variant rs34212827 [ dbSNP | Ensembl ].
VAR_048100

Experimental info

Sequence conflict2651Y → H in AAG37824. Ref.1
Sequence conflict3291T → A in AAG37824. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 24, 2004. Version 2.
Checksum: 7254A5DAAFAC23E7

FASTA36941,016
        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 

« Hide

Isoform 2 [UniParc].

Checksum: 71BD3348FED27107
Show »

FASTA19621,322

References

« Hide '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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INVOLVEMENT IN CBAS1, VARIANT ALA-250.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Stomach and Testis.
[3]"The sequence and analysis of duplication-rich human chromosome 16."
Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J. expand/collapse author list , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Uterus.
[6]"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] [Europe PMC] [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.
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.
CCDSCCDS10698.1. [Q9H2F3-1]
CCDS45466.1. [Q9H2F3-2]
RefSeqNP_001136249.1. NM_001142777.1. [Q9H2F3-2]
NP_001136250.1. NM_001142778.1. [Q9H2F3-2]
NP_079469.2. NM_025193.3. [Q9H2F3-1]
UniGeneHs.460618.

3D structure databases

ProteinModelPortalQ9H2F3.
SMRQ9H2F3. Positions 13-164.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123208. 5 interactions.
IntActQ9H2F3. 4 interactions.
STRING9606.ENSP00000297679.

Chemistry

BindingDBQ9H2F3.

PTM databases

PhosphoSiteQ9H2F3.

Polymorphism databases

DMDM47605550.

Proteomic databases

MaxQBQ9H2F3.
PaxDbQ9H2F3.
PRIDEQ9H2F3.

Protocols and materials databases

DNASU80270.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000262520; ENSP00000262520; ENSG00000099377. [Q9H2F3-2]
ENST00000297679; ENSP00000297679; ENSG00000099377. [Q9H2F3-1]
ENST00000353250; ENSP00000370662; ENSG00000099377. [Q9H2F3-2]
GeneID80270.
KEGGhsa:80270.
UCSCuc002eaf.2. human. [Q9H2F3-1]
uc002eag.2. human. [Q9H2F3-2]

Organism-specific databases

CTD80270.
GeneCardsGC16P030997.
H-InvDBHIX0038797.
HGNCHGNC:18324. HSD3B7.
HPAHPA050521.
MIM607764. gene.
607765. phenotype.
neXtProtNX_Q9H2F3.
Orphanet79301. Congenital bile acid synthesis defect type 1.
PharmGKBPA134940289.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0451.
HOGENOMHOG000167989.
HOVERGENHBG000014.
InParanoidQ9H2F3.
KOK12408.
OMAEDFNMEI.
OrthoDBEOG74J985.
PhylomeDBQ9H2F3.
TreeFamTF354279.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.
UniPathwayUPA00062.

Gene expression databases

ArrayExpressQ9H2F3.
BgeeQ9H2F3.
CleanExHS_HSD3B7.
GenevestigatorQ9H2F3.

Family and domain databases

Gene3D3.40.50.720. 1 hit.
InterProIPR002225. 3Beta_OHSteriod_DH/Estase.
IPR016040. NAD(P)-bd_dom.
[Graphical view]
PfamPF01073. 3Beta_HSD. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi80270.
NextBio70733.
PROQ9H2F3.
SOURCESearch...

Entry information

Entry name3BHS7_HUMAN
AccessionPrimary (citable) accession number: Q9H2F3
Secondary accession number(s): Q96M28, Q9BSN9
Entry history
Integrated into UniProtKB/Swiss-Prot: May 24, 2004
Last sequence update: May 24, 2004
Last modified: July 9, 2014
This is version 114 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 16

Human chromosome 16: entries, gene names and cross-references to MIM