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Q9UNU6

- CP8B1_HUMAN

UniProt

Q9UNU6 - CP8B1_HUMAN

Protein

7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase

Gene

CYP8B1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 117 (01 Oct 2014)
      Sequence version 2 (05 Oct 2010)
      Previous versions | rss
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    Functioni

    Involved in bile acid synthesis and is responsible for the conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7 alpha, 12 alpha-dihydroxy-4-cholesten-3-one. Responsible for the balance between formation of cholic acid and chenodeoxycholic acid. Has a rather broad substrate specificity including a number of 7-alpha-hydroxylated C27 steroids.

    Catalytic activityi

    7-alpha-hydroxycholest-4-en-3-one + NADPH + O2 = 7-alpha,12-alpha-dihydroxycholest-4-en-3-one + NADP+ + H2O.

    Cofactori

    Heme group.By similarity

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi440 – 4401Iron (heme axial ligand)By similarity

    GO - Molecular functioni

    1. 7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity Source: UniProtKB-EC
    2. heme binding Source: RefGenome
    3. iron ion binding Source: InterPro
    4. oxygen binding Source: ProtInc
    5. sterol 12-alpha-hydroxylase activity Source: RefGenome

    GO - Biological processi

    1. bile acid biosynthetic process Source: Reactome
    2. bile acid metabolic process Source: Reactome
    3. lipid metabolic process Source: RefGenome
    4. small molecule metabolic process Source: Reactome
    5. sterol metabolic process Source: Reactome
    6. xenobiotic metabolic process Source: Reactome

    Keywords - Molecular functioni

    Monooxygenase, Oxidoreductase

    Keywords - Ligandi

    Heme, Iron, Metal-binding, NADP

    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.
    REACT_13438. Sterols are 12-hydroxylated by CYP8B1.
    REACT_13645. Eicosanoids.
    REACT_150149. Synthesis of Prostaglandins (PG) and Thromboxanes (TX).

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase (EC:1.14.13.95)
    Alternative name(s):
    7-alpha-hydroxy-4-cholesten-3-one 12-alpha-hydroxylase
    CYPVIIIB1
    Cytochrome P450 8B1
    Sterol 12-alpha-hydroxylase
    Gene namesi
    Name:CYP8B1
    Synonyms:CYP12
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:2653. CYP8B1.

    Subcellular locationi

    GO - Cellular componenti

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

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane, Microsome

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 5015017-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylasePRO_0000051913Add
    BLAST

    Proteomic databases

    PaxDbiQ9UNU6.
    PRIDEiQ9UNU6.

    PTM databases

    PhosphoSiteiQ9UNU6.

    Expressioni

    Tissue specificityi

    Liver.

    Gene expression databases

    ArrayExpressiQ9UNU6.
    BgeeiQ9UNU6.
    CleanExiHS_CYP8B1.
    GenevestigatoriQ9UNU6.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000318867.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UNU6.
    SMRiQ9UNU6. Positions 26-499.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei1 – 2121HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the cytochrome P450 family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG2124.
    HOGENOMiHOG000231026.
    HOVERGENiHBG051100.
    InParanoidiQ9UNU6.
    KOiK07431.
    OMAiILLMVTH.
    PhylomeDBiQ9UNU6.
    TreeFamiTF105090.

    Family and domain databases

    Gene3Di1.10.630.10. 1 hit.
    InterProiIPR001128. Cyt_P450.
    IPR024204. Cyt_P450_CYP7A1-type.
    IPR002403. Cyt_P450_E_grp-IV.
    [Graphical view]
    PfamiPF00067. p450. 1 hit.
    [Graphical view]
    PIRSFiPIRSF000047. Cytochrome_CYPVIIA1. 1 hit.
    PRINTSiPR00465. EP450IV.
    SUPFAMiSSF48264. SSF48264. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    Q9UNU6-1 [UniParc]FASTAAdd to Basket

    « Hide

    MVLWGPVLGA LLVVIAGYLC LPGMLRQRRP WEPPLDKGTV PWLGHAMAFR    50
    KNMFEFLKRM RTKHGDVFTV QLGGQYFTFV MDPLSFGSIL KDTQRKLDFG 100
    QYAKKLVLKV FGYRSVQGDH EMIHSASTKH LRGDGLKDLN ETMLDSLSFV 150
    MLTSKGWSLD ASCWHEDSLF RFCYYILFTA GYLSLFGYTK DKEQDLLQAG 200
    ELFMEFRKFD LLFPRFVYSL LWPREWLEVG RLQRLFHKML SVSHSQEKEG 250
    ISNWLGNMLQ FLREQGVPSA MQDKFNFMML WASQGNTGPT SFWALLYLLK 300
    HPEAIRAVRE EATQVLGEAR LETKQSFAFK LGALQHTPVL DSVVEETLRL 350
    RAAPTLLRLV HEDYTLKMSS GQEYLFRHGD ILALFPYLSV HMDPDIHPEP 400
    TVFKYDRFLN PNGSRKVDFF KTGKKIHHYT MPWGSGVSIC PGRFFALSEV 450
    KLFILLMVTH FDLELVDPDT PLPHVDPQRW GFGTMQPSHD VRFRYRLHPT 500
    E 501
    Length:501
    Mass (Da):58,068
    Last modified:October 5, 2010 - v2
    Checksum:i1B97698E8453E51A
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti24 – 241M → I in BAG37730. (PubMed:14702039)Curated
    Sequence conflicti60 – 601M → V in AAH67444. (PubMed:15489334)Curated
    Sequence conflicti454 – 4541I → T in AAH67434. (PubMed:15489334)Curated
    Sequence conflicti454 – 4541I → T in AAH67441. (PubMed:15489334)Curated
    Sequence conflicti468 – 4681P → L in AAH67444. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti88 – 881S → P.3 Publications
    Corresponds to variant rs9865715 [ dbSNP | Ensembl ].
    VAR_055102
    Natural varianti234 – 2341R → H.1 Publication
    VAR_010381
    Natural varianti238 – 2381K → R.
    Corresponds to variant rs35764459 [ dbSNP | Ensembl ].
    VAR_055103
    Natural varianti357 – 3571L → F.
    Corresponds to variant rs35637877 [ dbSNP | Ensembl ].
    VAR_055104

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF090318 mRNA. Translation: AAC63037.1.
    AF090320 Genomic DNA. Translation: AAD19877.1.
    AK315330 mRNA. Translation: BAG37730.1.
    AC099329 Genomic DNA. No translation available.
    BC067434 mRNA. Translation: AAH67434.1.
    BC067441 mRNA. Translation: AAH67441.1.
    BC067442 mRNA. Translation: AAH67442.1.
    BC067444 mRNA. Translation: AAH67444.1.
    CCDSiCCDS2707.1.
    RefSeqiNP_004382.2. NM_004391.2.
    UniGeneiHs.447793.
    Hs.722743.

    Genome annotation databases

    EnsembliENST00000316161; ENSP00000318867; ENSG00000180432.
    GeneIDi1582.
    KEGGihsa:1582.
    UCSCiuc003cmh.3. human.

    Polymorphism databases

    DMDMi308153428.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF090318 mRNA. Translation: AAC63037.1 .
    AF090320 Genomic DNA. Translation: AAD19877.1 .
    AK315330 mRNA. Translation: BAG37730.1 .
    AC099329 Genomic DNA. No translation available.
    BC067434 mRNA. Translation: AAH67434.1 .
    BC067441 mRNA. Translation: AAH67441.1 .
    BC067442 mRNA. Translation: AAH67442.1 .
    BC067444 mRNA. Translation: AAH67444.1 .
    CCDSi CCDS2707.1.
    RefSeqi NP_004382.2. NM_004391.2.
    UniGenei Hs.447793.
    Hs.722743.

    3D structure databases

    ProteinModelPortali Q9UNU6.
    SMRi Q9UNU6. Positions 26-499.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000318867.

    PTM databases

    PhosphoSitei Q9UNU6.

    Polymorphism databases

    DMDMi 308153428.

    Proteomic databases

    PaxDbi Q9UNU6.
    PRIDEi Q9UNU6.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000316161 ; ENSP00000318867 ; ENSG00000180432 .
    GeneIDi 1582.
    KEGGi hsa:1582.
    UCSCi uc003cmh.3. human.

    Organism-specific databases

    CTDi 1582.
    GeneCardsi GC03M042888.
    H-InvDB HIX0030713.
    HGNCi HGNC:2653. CYP8B1.
    MIMi 602172. gene.
    neXtProti NX_Q9UNU6.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG2124.
    HOGENOMi HOG000231026.
    HOVERGENi HBG051100.
    InParanoidi Q9UNU6.
    KOi K07431.
    OMAi ILLMVTH.
    PhylomeDBi Q9UNU6.
    TreeFami TF105090.

    Enzyme and pathway databases

    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.
    REACT_13438. Sterols are 12-hydroxylated by CYP8B1.
    REACT_13645. Eicosanoids.
    REACT_150149. Synthesis of Prostaglandins (PG) and Thromboxanes (TX).

    Miscellaneous databases

    GeneWikii CYP8B1.
    GenomeRNAii 1582.
    NextBioi 6499.
    PROi Q9UNU6.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UNU6.
    Bgeei Q9UNU6.
    CleanExi HS_CYP8B1.
    Genevestigatori Q9UNU6.

    Family and domain databases

    Gene3Di 1.10.630.10. 1 hit.
    InterProi IPR001128. Cyt_P450.
    IPR024204. Cyt_P450_CYP7A1-type.
    IPR002403. Cyt_P450_E_grp-IV.
    [Graphical view ]
    Pfami PF00067. p450. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF000047. Cytochrome_CYPVIIA1. 1 hit.
    PRINTSi PR00465. EP450IV.
    SUPFAMi SSF48264. SSF48264. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Structure and chromosomal assignment of the sterol 12alpha-hydroxylase gene (CYP8B1) in human and mouse: eukaryotic cytochrome P-450 gene devoid of introns."
      Gaafvels M., Olin M., Chowdhary B.P., Raudsepp T., Andersson U., Persson B., Jansson M., Bjoerkhem I., Eggertsen G.
      Genomics 56:184-196(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], VARIANTS PRO-88 AND HIS-234.
      Tissue: Liver.
    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], VARIANT PRO-88.
      Tissue: Liver.
    3. "The DNA sequence, annotation and analysis of human chromosome 3."
      Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
      , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
      Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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], VARIANT PRO-88.

    Entry informationi

    Entry nameiCP8B1_HUMAN
    AccessioniPrimary (citable) accession number: Q9UNU6
    Secondary accession number(s): B2RCY3
    , O75958, Q6NWT2, Q6NWT3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 21, 2001
    Last sequence update: October 5, 2010
    Last modified: October 1, 2014
    This is version 117 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 3
      Human chromosome 3: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3