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Protein

25-hydroxycholesterol 7-alpha-hydroxylase

Gene

CYP7B1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Oxysterol 7alpha-hydroxylase that mediates formation of 7-alpha,25-dihydroxycholesterol (7-alpha,25-OHC) from 25-hydroxycholesterol (PubMed:10588945). Plays a key role in cell positioning and movement in lymphoid tissues: 7-alpha,25-dihydroxycholesterol (7-alpha,25-OHC) acts as a ligand for the G protein-coupled receptor GPR183/EBI2, a chemotactic receptor for a number of lymphoid cells (By similarity).By similarity1 Publication

Catalytic activityi

Cholest-5-ene-3-beta,25-diol + [reduced NADPH--hemoprotein reductase] + O2 = cholest-5-ene-3-beta,7-alpha,25-triol + [oxidized NADPH--hemoprotein reductase] + H2O.1 Publication
(25R)-cholest-5-ene-3-beta,26-diol + [reduced NADPH--hemoprotein reductase] + O2 = (25R)-cholest-5-ene-3-beta,7-alpha,26-triol + [oxidized NADPH--hemoprotein reductase] + H2O.1 Publication

Cofactori

hemeBy similarity

Pathwayi: bile acid biosynthesis

This protein is involved in the pathway bile acid biosynthesis, which is part of Lipid metabolism.
View all proteins of this organism that are known to be involved in the pathway bile acid biosynthesis and in Lipid metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi449Iron (heme axial ligand)By similarity1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionMonooxygenase, Oxidoreductase
Biological processCholesterol metabolism, Lipid metabolism, Steroid metabolism, Sterol metabolism
LigandHeme, Iron, Metal-binding

Enzyme and pathway databases

BRENDAi1.14.13.100 2681
ReactomeiR-HSA-192105 Synthesis of bile acids and bile salts
R-HSA-193368 Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
R-HSA-193807 Synthesis of bile acids and bile salts via 27-hydroxycholesterol
R-HSA-211976 Endogenous sterols
R-HSA-5579013 Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3)
SIGNORiO75881
UniPathwayi
UPA00221

Chemistry databases

SwissLipidsiSLP:000001207

Names & Taxonomyi

Protein namesi
Recommended name:
25-hydroxycholesterol 7-alpha-hydroxylase (EC:1.14.14.291 Publication)
Alternative name(s):
Cytochrome P450 7B1
Oxysterol 7-alpha-hydroxylase
Gene namesi
Name:CYP7B1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000172817.3
HGNCiHGNC:2652 CYP7B1
MIMi603711 gene
neXtProtiNX_O75881

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

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Microsome

Pathology & Biotechi

Involvement in diseasei

Spastic paraplegia 5A, autosomal recessive (SPG5A)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.
See also OMIM:270800
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04438257G → R in SPG5A. 1 PublicationCorresponds to variant dbSNP:rs121908614EnsemblClinVar.1
Natural variantiVAR_07550687G → V in SPG5A. 1 PublicationCorresponds to variant dbSNP:rs587777221EnsemblClinVar.1
Natural variantiVAR_075508147G → D in SPG5A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs754730601EnsemblClinVar.1
Natural variantiVAR_075509198G → R in SPG5A; unknown pathological significance. 1 Publication1
Natural variantiVAR_044383216F → S in SPG5A. 1 PublicationCorresponds to variant dbSNP:rs121908612EnsemblClinVar.1
Natural variantiVAR_075510285H → L in SPG5A. 1 PublicationCorresponds to variant dbSNP:rs750781606Ensembl.1
Natural variantiVAR_075512297T → A in SPG5A. 2 PublicationsCorresponds to variant dbSNP:rs587777222EnsemblClinVar.1
Natural variantiVAR_075513316A → AA in SPG5A; unknown pathological significance. 1 Publication1
Natural variantiVAR_044384363S → F in SPG5A. 1 PublicationCorresponds to variant dbSNP:rs121908610EnsemblClinVar.1
Natural variantiVAR_075515417R → C in SPG5A. 1 PublicationCorresponds to variant dbSNP:rs367916692Ensembl.1
Natural variantiVAR_044385417R → H in SPG5A. 2 PublicationsCorresponds to variant dbSNP:rs121908611EnsemblClinVar.1
Natural variantiVAR_075516443G → A in SPG5A. 1 Publication1
Natural variantiVAR_075517470F → I in SPG5A. 1 PublicationCorresponds to variant dbSNP:rs267606758EnsemblClinVar.1
Natural variantiVAR_075518486R → C in SPG5A. 3 PublicationsCorresponds to variant dbSNP:rs116171274EnsemblClinVar.1
Congenital bile acid synthesis defect 3 (CBAS3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder resulting in severe cholestasis, cirrhosis and liver synthetic failure. Hepatic microsomal oxysterol 7-alpha-hydroxylase activity is undetectable.
See also OMIM:613812

Keywords - Diseasei

Disease mutation, Hereditary spastic paraplegia, Intrahepatic cholestasis, Neurodegeneration

Organism-specific databases

DisGeNETi9420
MalaCardsiCYP7B1
MIMi270800 phenotype
613812 phenotype
OpenTargetsiENSG00000172817
Orphaneti100986 Autosomal recessive spastic paraplegia type 5A
79302 Congenital bile acid synthesis defect type 3
PharmGKBiPA27124

Polymorphism and mutation databases

BioMutaiCYP7B1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000519061 – 50625-hydroxycholesterol 7-alpha-hydroxylaseAdd BLAST506

Proteomic databases

MaxQBiO75881
PaxDbiO75881
PeptideAtlasiO75881
PRIDEiO75881
ProteomicsDBi50237

PTM databases

iPTMnetiO75881
PhosphoSitePlusiO75881

Expressioni

Tissue specificityi

Brain, testis, ovary, prostate, liver, colon, kidney, and small intestine.

Gene expression databases

BgeeiENSG00000172817 Expressed in 114 organ(s), highest expression level in corpus callosum
CleanExiHS_CYP7B1
GenevisibleiO75881 HS

Organism-specific databases

HPAiHPA017761

Interactioni

Protein-protein interaction databases

BioGridi114813, 3 interactors
STRINGi9606.ENSP00000310721

Structurei

3D structure databases

ProteinModelPortaliO75881
SMRiO75881
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the cytochrome P450 family.Curated

Phylogenomic databases

eggNOGiKOG0684 Eukaryota
COG2124 LUCA
GeneTreeiENSGT00550000074551
HOGENOMiHOG000231026
HOVERGENiHBG051100
InParanoidiO75881
KOiK07430
OMAiDKAAHHF
OrthoDBiEOG091G07UI
PhylomeDBiO75881
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
PfamiView protein in Pfam
PF00067 p450, 1 hit
PIRSFiPIRSF000047 Cytochrome_CYPVIIA1, 1 hit
PRINTSiPR00465 EP450IV
PR00385 P450
SUPFAMiSSF48264 SSF48264, 1 hit

Sequencei

Sequence statusi: Complete.

O75881-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAGEVSAATG RFSLERLGLP GLALAAALLL LALCLLVRRT RRPGEPPLIK
60 70 80 90 100
GWLPYLGVVL NLRKDPLRFM KTLQKQHGDT FTVLLGGKYI TFILDPFQYQ
110 120 130 140 150
LVIKNHKQLS FRVFSNKLLE KAFSISQLQK NHDMNDELHL CYQFLQGKSL
160 170 180 190 200
DILLESMMQN LKQVFEPQLL KTTSWDTAEL YPFCSSIIFE ITFTTIYGKV
210 220 230 240 250
IVCDNNKFIS ELRDDFLKFD DKFAYLVSNI PIELLGNVKS IREKIIKCFS
260 270 280 290 300
SEKLAKMQGW SEVFQSRQDV LEKYYVHEDL EIGAHHLGFL WASVANTIPT
310 320 330 340 350
MFWAMYYLLR HPEAMAAVRD EIDRLLQSTG QKKGSGFPIH LTREQLDSLI
360 370 380 390 400
CLESSIFEAL RLSSYSTTIR FVEEDLTLSS ETGDYCVRKG DLVAIFPPVL
410 420 430 440 450
HGDPEIFEAP EEFRYDRFIE DGKKKTTFFK RGKKLKCYLM PFGTGTSKCP
460 470 480 490 500
GRFFALMEIK QLLVILLTYF DLEIIDDKPI GLNYSRLLFG IQYPDSDVLF

RYKVKS
Length:506
Mass (Da):58,256
Last modified:February 11, 2002 - v2
Checksum:i07D3D4B801B6DBD9
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07550519L → P1 PublicationCorresponds to variant dbSNP:rs72554624EnsemblClinVar.1
Natural variantiVAR_04438257G → R in SPG5A. 1 PublicationCorresponds to variant dbSNP:rs121908614EnsemblClinVar.1
Natural variantiVAR_07550687G → V in SPG5A. 1 PublicationCorresponds to variant dbSNP:rs587777221EnsemblClinVar.1
Natural variantiVAR_075507106H → Y1 Publication1
Natural variantiVAR_075508147G → D in SPG5A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs754730601EnsemblClinVar.1
Natural variantiVAR_075509198G → R in SPG5A; unknown pathological significance. 1 Publication1
Natural variantiVAR_044383216F → S in SPG5A. 1 PublicationCorresponds to variant dbSNP:rs121908612EnsemblClinVar.1
Natural variantiVAR_075510285H → L in SPG5A. 1 PublicationCorresponds to variant dbSNP:rs750781606Ensembl.1
Natural variantiVAR_075511287L → S1 Publication1
Natural variantiVAR_075512297T → A in SPG5A. 2 PublicationsCorresponds to variant dbSNP:rs587777222EnsemblClinVar.1
Natural variantiVAR_075513316A → AA in SPG5A; unknown pathological significance. 1 Publication1
Natural variantiVAR_075514324R → H2 PublicationsCorresponds to variant dbSNP:rs59035258EnsemblClinVar.1
Natural variantiVAR_044384363S → F in SPG5A. 1 PublicationCorresponds to variant dbSNP:rs121908610EnsemblClinVar.1
Natural variantiVAR_075515417R → C in SPG5A. 1 PublicationCorresponds to variant dbSNP:rs367916692Ensembl.1
Natural variantiVAR_044385417R → H in SPG5A. 2 PublicationsCorresponds to variant dbSNP:rs121908611EnsemblClinVar.1
Natural variantiVAR_075516443G → A in SPG5A. 1 Publication1
Natural variantiVAR_075517470F → I in SPG5A. 1 PublicationCorresponds to variant dbSNP:rs267606758EnsemblClinVar.1
Natural variantiVAR_075518486R → C in SPG5A. 3 PublicationsCorresponds to variant dbSNP:rs116171274EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF029403 mRNA Translation: AAC95426.1
AF127090 mRNA Translation: AAD20021.1
AF176805
, AF176800, AF176801, AF176802, AF176803, AF176804 Genomic DNA Translation: AAK11850.1
CH471068 Genomic DNA Translation: EAW86877.1
BC136574 mRNA Translation: AAI36575.1
CCDSiCCDS6180.1
RefSeqiNP_004811.1, NM_004820.4
UniGeneiHs.657330
Hs.667720

Genome annotation databases

EnsembliENST00000310193; ENSP00000310721; ENSG00000172817
GeneIDi9420
KEGGihsa:9420
UCSCiuc003xvj.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF029403 mRNA Translation: AAC95426.1
AF127090 mRNA Translation: AAD20021.1
AF176805
, AF176800, AF176801, AF176802, AF176803, AF176804 Genomic DNA Translation: AAK11850.1
CH471068 Genomic DNA Translation: EAW86877.1
BC136574 mRNA Translation: AAI36575.1
CCDSiCCDS6180.1
RefSeqiNP_004811.1, NM_004820.4
UniGeneiHs.657330
Hs.667720

3D structure databases

ProteinModelPortaliO75881
SMRiO75881
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114813, 3 interactors
STRINGi9606.ENSP00000310721

Chemistry databases

SwissLipidsiSLP:000001207

PTM databases

iPTMnetiO75881
PhosphoSitePlusiO75881

Polymorphism and mutation databases

BioMutaiCYP7B1

Proteomic databases

MaxQBiO75881
PaxDbiO75881
PeptideAtlasiO75881
PRIDEiO75881
ProteomicsDBi50237

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000310193; ENSP00000310721; ENSG00000172817
GeneIDi9420
KEGGihsa:9420
UCSCiuc003xvj.3 human

Organism-specific databases

CTDi9420
DisGeNETi9420
EuPathDBiHostDB:ENSG00000172817.3
GeneCardsiCYP7B1
HGNCiHGNC:2652 CYP7B1
HPAiHPA017761
MalaCardsiCYP7B1
MIMi270800 phenotype
603711 gene
613812 phenotype
neXtProtiNX_O75881
OpenTargetsiENSG00000172817
Orphaneti100986 Autosomal recessive spastic paraplegia type 5A
79302 Congenital bile acid synthesis defect type 3
PharmGKBiPA27124
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0684 Eukaryota
COG2124 LUCA
GeneTreeiENSGT00550000074551
HOGENOMiHOG000231026
HOVERGENiHBG051100
InParanoidiO75881
KOiK07430
OMAiDKAAHHF
OrthoDBiEOG091G07UI
PhylomeDBiO75881
TreeFamiTF105090

Enzyme and pathway databases

UniPathwayi
UPA00221

BRENDAi1.14.13.100 2681
ReactomeiR-HSA-192105 Synthesis of bile acids and bile salts
R-HSA-193368 Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
R-HSA-193807 Synthesis of bile acids and bile salts via 27-hydroxycholesterol
R-HSA-211976 Endogenous sterols
R-HSA-5579013 Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3)
SIGNORiO75881

Miscellaneous databases

ChiTaRSiCYP7B1 human
GeneWikiiCYP7B1
GenomeRNAii9420
PROiPR:O75881
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000172817 Expressed in 114 organ(s), highest expression level in corpus callosum
CleanExiHS_CYP7B1
GenevisibleiO75881 HS

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
PfamiView protein in Pfam
PF00067 p450, 1 hit
PIRSFiPIRSF000047 Cytochrome_CYPVIIA1, 1 hit
PRINTSiPR00465 EP450IV
PR00385 P450
SUPFAMiSSF48264 SSF48264, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCP7B1_HUMAN
AccessioniPrimary (citable) accession number: O75881
Secondary accession number(s): B2RN07, Q9UNF5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: February 11, 2002
Last modified: November 7, 2018
This is version 168 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. SIMILARITY comments
    Index of protein domains and families
  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. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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