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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: Annotation score: 5 out of 5-Experimental evidence at protein 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.By similarity

Catalytic activityi

7-alpha-hydroxycholest-4-en-3-one + 2 ferrocytochrome b5 + 2 H+ + O2 = 7-alpha,12-alpha-dihydroxycholest-4-en-3-one + 2 ferricytochrome b5 + + H2O.By similarity

Cofactori

hemeBy similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi440Iron (heme axial ligand)By similarity1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionMonooxygenase, Oxidoreductase
LigandHeme, Iron, Metal-binding, NADP

Enzyme and pathway databases

ReactomeiR-HSA-193368. Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol.
R-HSA-193775. Synthesis of bile acids and bile salts via 24-hydroxycholesterol.
R-HSA-193807. Synthesis of bile acids and bile salts via 27-hydroxycholesterol.
R-HSA-197264. Nicotinamide salvaging.
R-HSA-211979. Eicosanoids.
R-HSA-211994. Sterols are 12-hydroxylated by CYP8B1.
R-HSA-2162123. Synthesis of Prostaglandins (PG) and Thromboxanes (TX).

Chemistry databases

SwissLipidsiSLP:000001319.

Names & Taxonomyi

Protein namesi
Recommended name:
7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase (EC:1.14.18.8By similarity)
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
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000180432.5.
HGNCiHGNC:2653. CYP8B1.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei1 – 21HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Microsome

Pathology & Biotechi

Organism-specific databases

DisGeNETi1582.
OpenTargetsiENSG00000180432.

Polymorphism and mutation databases

BioMutaiCYP8B1.
DMDMi308153428.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000519131 – 5017-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylaseAdd BLAST501

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei326PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ9UNU6.
PeptideAtlasiQ9UNU6.
PRIDEiQ9UNU6.

PTM databases

iPTMnetiQ9UNU6.
PhosphoSitePlusiQ9UNU6.

Expressioni

Tissue specificityi

Liver.

Gene expression databases

BgeeiENSG00000180432.
CleanExiHS_CYP8B1.
ExpressionAtlasiQ9UNU6. baseline and differential.
GenevisibleiQ9UNU6. HS.

Interactioni

Protein-protein interaction databases

BioGridi107954. 7 interactors.
STRINGi9606.ENSP00000318867.

Structurei

3D structure databases

ProteinModelPortaliQ9UNU6.
SMRiQ9UNU6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the cytochrome P450 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0684. Eukaryota.
COG2124. LUCA.
GeneTreeiENSGT00550000074551.
HOGENOMiHOG000231026.
HOVERGENiHBG051100.
InParanoidiQ9UNU6.
KOiK07431.
OMAiMQDKFNF.
OrthoDBiEOG091G0767.
PhylomeDBiQ9UNU6.
TreeFamiTF105090.

Family and domain databases

Gene3Di1.10.630.10. 1 hit.
InterProiView protein in InterPro
IPR001128. Cyt_P450.
IPR024204. Cyt_P450_CYP7A1-type.
IPR002403. Cyt_P450_E_grp-IV.
IPR036396. Cyt_P450_sf.
IPR030686. Cytochrome_CYP8B1.
PANTHERiPTHR24306:SF0. PTHR24306:SF0. 1 hit.
PfamiView protein in Pfam
PF00067. p450. 1 hit.
PIRSFiPIRSF500627. Cytochrome_CYP8B1. 1 hit.
PIRSF000047. 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)DescriptionActionsGraphical viewLength
Sequence conflicti24M → I in BAG37730 (PubMed:14702039).Curated1
Sequence conflicti60M → V in AAH67444 (PubMed:15489334).Curated1
Sequence conflicti454I → T in AAH67434 (PubMed:15489334).Curated1
Sequence conflicti454I → T in AAH67441 (PubMed:15489334).Curated1
Sequence conflicti468P → L in AAH67444 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05510288S → P3 PublicationsCorresponds to variant dbSNP:rs9865715Ensembl.1
Natural variantiVAR_010381234R → H1 PublicationCorresponds to variant dbSNP:rs199955644Ensembl.1
Natural variantiVAR_055103238K → R. Corresponds to variant dbSNP:rs35764459Ensembl.1
Natural variantiVAR_055104357L → F. Corresponds to variant dbSNP:rs35637877Ensembl.1

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.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCP8B1_HUMAN
AccessioniPrimary (citable) accession number: Q9UNU6
Secondary accession number(s): B2RCY3
, O75958, Q6NWT2, Q6NWT3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: October 5, 2010
Last modified: October 25, 2017
This is version 146 of the entry and version 2 of the sequence. See 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