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Q9H2F3

- 3BHS7_HUMAN

UniProt

Q9H2F3 - 3BHS7_HUMAN

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Protein

3 beta-hydroxysteroid dehydrogenase type 7

Gene
HSD3B7
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - 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.

Catalytic activityi

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.

Pathwayi

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei159 – 1591Proton acceptor By similarity
Binding sitei163 – 1631NAD By similarity

GO - Molecular functioni

  1. 3-beta-hydroxy-delta5-steroid dehydrogenase activity Source: UniProtKB
  2. cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity Source: UniProtKB-EC

GO - Biological processi

  1. bile acid biosynthetic process Source: UniProtKB
  2. bile acid metabolic process Source: Reactome
  3. small molecule metabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Biological processi

Steroidogenesis

Keywords - Ligandi

NAD

Enzyme and pathway databases

ReactomeiREACT_11041. Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol.
REACT_11048. Synthesis of bile acids and bile salts via 27-hydroxycholesterol.
REACT_11053. Synthesis of bile acids and bile salts via 24-hydroxycholesterol.
UniPathwayiUPA00062.

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
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:18324. HSD3B7.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei289 – 30921Helical; Reviewed predictionAdd
BLAST
Transmembranei311 – 33121Helical; Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. endoplasmic reticulum membrane Source: Reactome
  2. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

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.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti19 – 191G → S in CBAS1. 1 Publication
VAR_054775
Natural varianti147 – 1471E → K in CBAS1; loss of activity. 1 Publication
VAR_054776

Keywords - Diseasei

Disease mutation, Intrahepatic cholestasis

Organism-specific databases

MIMi607765. phenotype.
Orphaneti79301. Congenital bile acid synthesis defect type 1.
PharmGKBiPA134940289.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 3693693 beta-hydroxysteroid dehydrogenase type 7PRO_0000087791Add
BLAST

Proteomic databases

MaxQBiQ9H2F3.
PaxDbiQ9H2F3.
PRIDEiQ9H2F3.

PTM databases

PhosphoSiteiQ9H2F3.

Expressioni

Gene expression databases

ArrayExpressiQ9H2F3.
BgeeiQ9H2F3.
CleanExiHS_HSD3B7.
GenevestigatoriQ9H2F3.

Organism-specific databases

HPAiHPA050521.

Interactioni

Protein-protein interaction databases

BioGridi123208. 5 interactions.
IntActiQ9H2F3. 4 interactions.
STRINGi9606.ENSP00000297679.

Structurei

3D structure databases

ProteinModelPortaliQ9H2F3.
SMRiQ9H2F3. Positions 13-164.

Family & Domainsi

Sequence similaritiesi

Belongs to the 3-beta-HSD family.

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0451.
HOGENOMiHOG000167989.
HOVERGENiHBG000014.
InParanoidiQ9H2F3.
KOiK12408.
OMAiEDFNMEI.
OrthoDBiEOG74J985.
PhylomeDBiQ9H2F3.
TreeFamiTF354279.

Family and domain databases

Gene3Di3.40.50.720. 1 hit.
InterProiIPR002225. 3Beta_OHSteriod_DH/Estase.
IPR016040. NAD(P)-bd_dom.
[Graphical view]
PfamiPF01073. 3Beta_HSD. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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

MADSAQAQKL VYLVTGGCGF LGEHVVRMLL QREPRLGELR VFDQHLGPWL    50
EELKTGPVRV TAIQGDVTQA HEVAAAVAGA HVVIHTAGLV DVFGRASPKT 100
IHEVNVQGTR NVIEACVQTG TRFLVYTSSM EVVGPNTKGH PFYRGNEDTP 150
YEAVHRHPYP CSKALAEWLV LEANGRKVRG GLPLVTCALR PTGIYGEGHQ 200
IMRDFYRQGL RLGGWLFRAI PASVEHGRVY VGNVAWMHVL AARELEQRAT 250
LMGGQVYFCY DGSPYRSYED FNMEFLGPCG LRLVGARPLL PYWLLVFLAA 300
LNALLQWLLR PLVLYAPLLN PYTLAVANTT FTVSTDKAQR HFGYEPLFSW 350
EDSRTRTILW VQAATGSAQ 369
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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti19 – 191G → S in CBAS1. 1 Publication
VAR_054775
Natural varianti147 – 1471E → K in CBAS1; loss of activity. 1 Publication
VAR_054776
Natural varianti250 – 2501T → A.1 Publication
Corresponds to variant rs9938550 [ dbSNP | Ensembl ].
VAR_031040
Natural varianti347 – 3471L → P.
Corresponds to variant rs34212827 [ dbSNP | Ensembl ].
VAR_048100

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei178 – 369192VRGGL…TGSAQ → AMLPGCTCWQPGSWSSGQP in isoform 2. VSP_042658Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti265 – 2651Y → H in AAG37824. 1 Publication
Sequence conflicti329 – 3291T → A in AAG37824. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]
UniGeneiHs.460618.

Genome annotation databases

EnsembliENST00000262520; ENSP00000262520; ENSG00000099377. [Q9H2F3-2]
ENST00000297679; ENSP00000297679; ENSG00000099377. [Q9H2F3-1]
ENST00000353250; ENSP00000370662; ENSG00000099377. [Q9H2F3-2]
GeneIDi80270.
KEGGihsa:80270.
UCSCiuc002eaf.2. human. [Q9H2F3-1]
uc002eag.2. human. [Q9H2F3-2]

Polymorphism databases

DMDMi47605550.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 ]
UniGenei Hs.460618.

3D structure databases

ProteinModelPortali Q9H2F3.
SMRi Q9H2F3. Positions 13-164.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 123208. 5 interactions.
IntActi Q9H2F3. 4 interactions.
STRINGi 9606.ENSP00000297679.

Chemistry

BindingDBi Q9H2F3.

PTM databases

PhosphoSitei Q9H2F3.

Polymorphism databases

DMDMi 47605550.

Proteomic databases

MaxQBi Q9H2F3.
PaxDbi Q9H2F3.
PRIDEi Q9H2F3.

Protocols and materials databases

DNASUi 80270.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000262520 ; ENSP00000262520 ; ENSG00000099377 . [Q9H2F3-2 ]
ENST00000297679 ; ENSP00000297679 ; ENSG00000099377 . [Q9H2F3-1 ]
ENST00000353250 ; ENSP00000370662 ; ENSG00000099377 . [Q9H2F3-2 ]
GeneIDi 80270.
KEGGi hsa:80270.
UCSCi uc002eaf.2. human. [Q9H2F3-1 ]
uc002eag.2. human. [Q9H2F3-2 ]

Organism-specific databases

CTDi 80270.
GeneCardsi GC16P030997.
H-InvDB HIX0038797.
HGNCi HGNC:18324. HSD3B7.
HPAi HPA050521.
MIMi 607764. gene.
607765. phenotype.
neXtProti NX_Q9H2F3.
Orphaneti 79301. Congenital bile acid synthesis defect type 1.
PharmGKBi PA134940289.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0451.
HOGENOMi HOG000167989.
HOVERGENi HBG000014.
InParanoidi Q9H2F3.
KOi K12408.
OMAi EDFNMEI.
OrthoDBi EOG74J985.
PhylomeDBi Q9H2F3.
TreeFami TF354279.

Enzyme and pathway databases

UniPathwayi UPA00062 .
Reactomei REACT_11041. Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol.
REACT_11048. Synthesis of bile acids and bile salts via 27-hydroxycholesterol.
REACT_11053. Synthesis of bile acids and bile salts via 24-hydroxycholesterol.

Miscellaneous databases

GenomeRNAii 80270.
NextBioi 70733.
PROi Q9H2F3.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9H2F3.
Bgeei Q9H2F3.
CleanExi HS_HSD3B7.
Genevestigatori Q9H2F3.

Family and domain databases

Gene3Di 3.40.50.720. 1 hit.
InterProi IPR002225. 3Beta_OHSteriod_DH/Estase.
IPR016040. NAD(P)-bd_dom.
[Graphical view ]
Pfami PF01073. 3Beta_HSD. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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. 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.

Entry informationi

Entry namei3BHS7_HUMAN
AccessioniPrimary (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: September 3, 2014
This is version 115 of the entry and version 2 of the sequence. [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

External Data

Dasty 3

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