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Q9UNU6

- CP8B1_HUMAN

UniProt

Q9UNU6 - CP8B1_HUMAN

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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

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

hemeBy 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
Complete GO annotation...

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_11213. Nicotinamide salvaging.
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

Topology

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

GO - Cellular componenti

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

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

BgeeiQ9UNU6.
CleanExiHS_CYP8B1.
ExpressionAtlasiQ9UNU6. baseline.
GenevestigatoriQ9UNU6.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000318867.

Structurei

3D structure databases

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

Family & Domainsi

Sequence similaritiesi

Belongs to the cytochrome P450 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG2124.
GeneTreeiENSGT00550000074551.
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

        10         20         30         40         50
MVLWGPVLGA LLVVIAGYLC LPGMLRQRRP WEPPLDKGTV PWLGHAMAFR
60 70 80 90 100
KNMFEFLKRM RTKHGDVFTV QLGGQYFTFV MDPLSFGSIL KDTQRKLDFG
110 120 130 140 150
QYAKKLVLKV FGYRSVQGDH EMIHSASTKH LRGDGLKDLN ETMLDSLSFV
160 170 180 190 200
MLTSKGWSLD ASCWHEDSLF RFCYYILFTA GYLSLFGYTK DKEQDLLQAG
210 220 230 240 250
ELFMEFRKFD LLFPRFVYSL LWPREWLEVG RLQRLFHKML SVSHSQEKEG
260 270 280 290 300
ISNWLGNMLQ FLREQGVPSA MQDKFNFMML WASQGNTGPT SFWALLYLLK
310 320 330 340 350
HPEAIRAVRE EATQVLGEAR LETKQSFAFK LGALQHTPVL DSVVEETLRL
360 370 380 390 400
RAAPTLLRLV HEDYTLKMSS GQEYLFRHGD ILALFPYLSV HMDPDIHPEP
410 420 430 440 450
TVFKYDRFLN PNGSRKVDFF KTGKKIHHYT MPWGSGVSIC PGRFFALSEV
460 470 480 490 500
KLFILLMVTH FDLELVDPDT PLPHVDPQRW GFGTMQPSHD VRFRYRLHPT

E
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.
GeneTreei ENSGT00550000074551.
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_11213. Nicotinamide salvaging.
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

Bgeei Q9UNU6.
CleanExi HS_CYP8B1.
ExpressionAtlasi Q9UNU6. baseline.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 119 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