Q9UNU6 (CP8B1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	CYP8B1
Synonyms:	CYP12

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	501 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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 component	Endoplasmic reticulum Membrane Microsome
Coding sequence diversity	Polymorphism
Domain	Transmembrane Transmembrane helix
Ligand	Heme Iron Metal-binding NADP
Molecular function	Monooxygenase Oxidoreductase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	bile acid biosynthetic process Traceable author statement. Source: Reactome xenobiotic metabolic process Traceable author statement. Source: Reactome
Cellular_component	endoplasmic reticulum membrane Traceable author statement. Source: Reactome integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity Inferred from electronic annotation. Source: EC electron carrier activity Inferred from electronic annotation. Source: InterPro heme binding Inferred from electronic annotation. Source: InterPro iron ion binding Inferred from electronic annotation. Source: InterPro oxygen binding Traceable author statement Ref.1. Source: ProtInc sterol 12-alpha-hydroxylase activity Traceable author statement Ref.1. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Initiator methionine	1	1	Removed By similarity
	Chain	2 – 501	500	7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase		PRO_0000051913
Regions
	Transmembrane	1 – 21	21	Helical; Potential
Sites
	Metal binding	440	1	Iron (heme axial ligand) By similarity
Natural variations
	Natural variant	88	1	S → P. Ref.1 Ref.2 Ref.4 Corresponds to variant rs9865715 [ dbSNP | Ensembl ].		VAR_055102
	Natural variant	234	1	R → H. Ref.1		VAR_010381
	Natural variant	238	1	K → R. Corresponds to variant rs35764459 [ dbSNP | Ensembl ].		VAR_055103
	Natural variant	357	1	L → F. Corresponds to variant rs35637877 [ dbSNP | Ensembl ].		VAR_055104
Experimental info
	Sequence conflict	24	1	M → I in BAG37730. Ref.2
	Sequence conflict	60	1	M → V in AAH67444. Ref.4
	Sequence conflict	454	1	I → T in AAH67434. Ref.4
	Sequence conflict	454	1	I → T in AAH67441. Ref.4
	Sequence conflict	468	1	P → L in AAH67444. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Q9UNU6 [UniParc]. Last modified October 5, 2010. Version 2. Checksum: 1B97698E8453E51A	FASTA	501	58,068
	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

References

	« Hide 'large scale' referencesShow '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. , 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.
+	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.
IPI	IPI00009440.
RefSeq	NP_004382.2. NM_004391.2.
UniGene	Hs.447793. Hs.722743.
3D structure databases
ProteinModelPortal	Q9UNU6.
SMR	Q9UNU6. Positions 26-499.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000318867.
PTM databases
PhosphoSite	Q9UNU6.
Polymorphism databases
DMDM	308153428.
Proteomic databases
PaxDb	Q9UNU6.
PRIDE	Q9UNU6.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000316161; ENSP00000318867; ENSG00000180432.
GeneID	1582.
KEGG	hsa:1582.
UCSC	uc003cmh.3. human.
Organism-specific databases
CTD	1582.
GeneCards	GC03M042888.
H-InvDB	HIX0030713.
HGNC	HGNC:2653. CYP8B1.
MIM	602172. gene.
neXtProt	NX_Q9UNU6.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG2124.
HOGENOM	HOG000231026.
HOVERGEN	HBG051100.
InParanoid	Q9UNU6.
KO	K07431.
OMA	MQDKFNF.
PhylomeDB	Q9UNU6.
Enzyme and pathway databases
Reactome	REACT_111217. Metabolism.
Gene expression databases
ArrayExpress	Q9UNU6.
Bgee	Q9UNU6.
CleanEx	HS_CYP8B1.
Genevestigator	Q9UNU6.
GermOnline	ENSG00000180432. Homo sapiens.
Family and domain databases
Gene3D	1.10.630.10. 1 hit.
InterPro	IPR001128. Cyt_P450. IPR024204. Cyt_P450_CYP7A1-type. IPR002403. Cyt_P450_E_grp-IV. [Graphical view]
Pfam	PF00067. p450. 1 hit. [Graphical view]
PIRSF	PIRSF000047. Cytochrome_CYPVIIA1. 1 hit.
PRINTS	PR00465. EP450IV.
SUPFAM	SSF48264. Cytochrome_P450. 1 hit.
PROSITE	PS00086. CYTOCHROME_P450. False negative. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	1582.
NextBio	6499.
SOURCE	Search...

Entry information

Entry name

CP8B1_HUMAN

Accession

Primary (citable) accession number: Q9UNU6
Secondary accession number(s): B2RCY3 , O75958, Q6NWT2, Q6NWT3

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 21, 2001
Last sequence update:	October 5, 2010
Last modified:	May 1, 2013
This is version 107 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.