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Q9UNU6 (CP8B1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 114. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:CYP8B1
Synonyms:CYP12
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length501 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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 activity

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

Cofactor

Heme group By similarity.

Subcellular location

Endoplasmic reticulum membrane; Single-pass membrane protein. Microsome membrane; Single-pass membrane protein.

Tissue specificity

Liver.

Sequence similarities

Belongs to the cytochrome P450 family.

Ontologies

Keywords
   Cellular componentEndoplasmic reticulum
Membrane
Microsome
   Coding sequence diversityPolymorphism
   DomainTransmembrane
Transmembrane helix
   LigandHeme
Iron
Metal-binding
NADP
   Molecular functionMonooxygenase
Oxidoreductase
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processbile acid biosynthetic process

Traceable author statement. Source: Reactome

bile acid metabolic process

Traceable author statement. Source: Reactome

lipid metabolic process

Inferred from Biological aspect of Ancestor. Source: RefGenome

small molecule metabolic process

Traceable author statement. Source: Reactome

sterol metabolic process

Traceable author statement. Source: Reactome

xenobiotic metabolic process

Traceable author statement. Source: Reactome

   Cellular_componentendoplasmic reticulum

Inferred from Biological aspect of Ancestor. Source: RefGenome

endoplasmic reticulum membrane

Traceable author statement. Source: Reactome

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular_function7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity

Inferred from electronic annotation. Source: UniProtKB-EC

heme binding

Inferred from Biological aspect of Ancestor. Source: RefGenome

iron ion binding

Inferred from electronic annotation. Source: InterPro

oxygen binding

Traceable author statement Ref.1. Source: ProtInc

sterol 12-alpha-hydroxylase activity

Inferred from Biological aspect of Ancestor. Source: RefGenome

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 5015017-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase
PRO_0000051913

Regions

Transmembrane1 – 2121Helical; Potential

Sites

Metal binding4401Iron (heme axial ligand) By similarity

Natural variations

Natural variant881S → P. Ref.1 Ref.2 Ref.4
Corresponds to variant rs9865715 [ dbSNP | Ensembl ].
VAR_055102
Natural variant2341R → H. Ref.1
VAR_010381
Natural variant2381K → R.
Corresponds to variant rs35764459 [ dbSNP | Ensembl ].
VAR_055103
Natural variant3571L → F.
Corresponds to variant rs35637877 [ dbSNP | Ensembl ].
VAR_055104

Experimental info

Sequence conflict241M → I in BAG37730. Ref.2
Sequence conflict601M → V in AAH67444. Ref.4
Sequence conflict4541I → T in AAH67434. Ref.4
Sequence conflict4541I → T in AAH67441. Ref.4
Sequence conflict4681P → L in AAH67444. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Q9UNU6 [UniParc].

Last modified October 5, 2010. Version 2.
Checksum: 1B97698E8453E51A

FASTA50158,068
        10         20         30         40         50         60 
MVLWGPVLGA LLVVIAGYLC LPGMLRQRRP WEPPLDKGTV PWLGHAMAFR KNMFEFLKRM 

        70         80         90        100        110        120 
RTKHGDVFTV QLGGQYFTFV MDPLSFGSIL KDTQRKLDFG QYAKKLVLKV FGYRSVQGDH 

       130        140        150        160        170        180 
EMIHSASTKH LRGDGLKDLN ETMLDSLSFV MLTSKGWSLD ASCWHEDSLF RFCYYILFTA 

       190        200        210        220        230        240 
GYLSLFGYTK DKEQDLLQAG ELFMEFRKFD LLFPRFVYSL LWPREWLEVG RLQRLFHKML 

       250        260        270        280        290        300 
SVSHSQEKEG ISNWLGNMLQ FLREQGVPSA MQDKFNFMML WASQGNTGPT SFWALLYLLK 

       310        320        330        340        350        360 
HPEAIRAVRE EATQVLGEAR LETKQSFAFK LGALQHTPVL DSVVEETLRL RAAPTLLRLV 

       370        380        390        400        410        420 
HEDYTLKMSS GQEYLFRHGD ILALFPYLSV HMDPDIHPEP TVFKYDRFLN PNGSRKVDFF 

       430        440        450        460        470        480 
KTGKKIHHYT MPWGSGVSIC PGRFFALSEV KLFILLMVTH FDLELVDPDT PLPHVDPQRW 

       490        500 
GFGTMQPSHD VRFRYRLHPT E 

« Hide

References

« Hide 'large scale' references
[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. 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], 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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_004382.2. NM_004391.2.
UniGeneHs.447793.
Hs.722743.

3D structure databases

ProteinModelPortalQ9UNU6.
SMRQ9UNU6. Positions 26-499.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000318867.

PTM databases

PhosphoSiteQ9UNU6.

Polymorphism databases

DMDM308153428.

Proteomic databases

PaxDbQ9UNU6.
PRIDEQ9UNU6.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000316161; ENSP00000318867; ENSG00000180432.
GeneID1582.
KEGGhsa:1582.
UCSCuc003cmh.3. human.

Organism-specific databases

CTD1582.
GeneCardsGC03M042888.
H-InvDBHIX0030713.
HGNCHGNC:2653. CYP8B1.
MIM602172. gene.
neXtProtNX_Q9UNU6.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG2124.
HOGENOMHOG000231026.
HOVERGENHBG051100.
InParanoidQ9UNU6.
KOK07431.
OMAILLMVTH.
PhylomeDBQ9UNU6.
TreeFamTF105090.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.

Gene expression databases

ArrayExpressQ9UNU6.
BgeeQ9UNU6.
CleanExHS_CYP8B1.
GenevestigatorQ9UNU6.

Family and domain databases

Gene3D1.10.630.10. 1 hit.
InterProIPR001128. Cyt_P450.
IPR024204. Cyt_P450_CYP7A1-type.
IPR002403. Cyt_P450_E_grp-IV.
[Graphical view]
PfamPF00067. p450. 1 hit.
[Graphical view]
PIRSFPIRSF000047. Cytochrome_CYPVIIA1. 1 hit.
PRINTSPR00465. EP450IV.
SUPFAMSSF48264. SSF48264. 1 hit.
ProtoNetSearch...

Other

GeneWikiCYP8B1.
GenomeRNAi1582.
NextBio6499.
PROQ9UNU6.
SOURCESearch...

Entry information

Entry nameCP8B1_HUMAN
AccessionPrimary (citable) accession number: Q9UNU6
Secondary accession number(s): B2RCY3 expand/collapse secondary AC list , O75958, Q6NWT2, Q6NWT3
Entry history
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: October 5, 2010
Last modified: April 16, 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

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 3

Human chromosome 3: entries, gene names and cross-references to MIM