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Q9H2F3

- 3BHS7_HUMAN

UniProt

Q9H2F3 - 3BHS7_HUMAN

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
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    • History
      Entry version 116 (01 Oct 2014)
      Sequence version 2 (24 May 2004)
      Previous versions | rss
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    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 acceptorBy similarity
    Binding sitei163 – 1631NADBy 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

    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

    GO - Cellular componenti

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

    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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei289 – 30921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei311 – 33121HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the 3-beta-HSD family.Curated

    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti265 – 2651Y → H in AAG37824. (PubMed:11067870)Curated
    Sequence conflicti329 – 3291T → A in AAG37824. (PubMed:11067870)Curated

    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. 1 PublicationVSP_042658Add
    BLAST

    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]
    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 ]
    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

    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: October 1, 2014
    This is version 116 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