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Protein

25-hydroxycholesterol 7-alpha-hydroxylase

Gene

CYP7B1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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, NADP

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.
UniPathwayiUPA00221.

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

HGNCiHGNC:2652. CYP7B1.

Subcellular locationi

GO - Cellular componenti

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:rs121908614Ensembl.1
Natural variantiVAR_07550687G → V in SPG5A. 1 PublicationCorresponds to variant dbSNP:rs587777221Ensembl.1
Natural variantiVAR_075508147G → D in SPG5A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs754730601Ensembl.1
Natural variantiVAR_075509198G → R in SPG5A; unknown pathological significance. 1 Publication1
Natural variantiVAR_044383216F → S in SPG5A. 1 PublicationCorresponds to variant dbSNP:rs121908612Ensembl.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:rs587777222Ensembl.1
Natural variantiVAR_075513316A → AA in SPG5A; unknown pathological significance. 1 Publication1
Natural variantiVAR_044384363S → F in SPG5A. 1 PublicationCorresponds to variant dbSNP:rs121908610Ensembl.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:rs121908611Ensembl.1
Natural variantiVAR_075516443G → A in SPG5A. 1 Publication1
Natural variantiVAR_075517470F → I in SPG5A. 1 PublicationCorresponds to variant dbSNP:rs267606758Ensembl.1
Natural variantiVAR_075518486R → C in SPG5A. 3 PublicationsCorresponds to variant dbSNP:rs116171274Ensembl.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.

PTM databases

iPTMnetiO75881.
PhosphoSitePlusiO75881.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000172817.
CleanExiHS_CYP7B1.
GenevisibleiO75881. HS.

Organism-specific databases

HPAiHPA017761.

Interactioni

Protein-protein interaction databases

BioGridi114813. 2 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.
OMAiPTMFWAM.
OrthoDBiEOG091G07UI.
PhylomeDBiO75881.
TreeFamiTF105090.

Family and domain databases

InterProiView protein in InterPro
IPR001128. Cyt_P450.
IPR024204. Cyt_P450_CYP7A1-type.
IPR002403. Cyt_P450_E_grp-IV.
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:rs72554624Ensembl.1
Natural variantiVAR_04438257G → R in SPG5A. 1 PublicationCorresponds to variant dbSNP:rs121908614Ensembl.1
Natural variantiVAR_07550687G → V in SPG5A. 1 PublicationCorresponds to variant dbSNP:rs587777221Ensembl.1
Natural variantiVAR_075507106H → Y1 Publication1
Natural variantiVAR_075508147G → D in SPG5A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs754730601Ensembl.1
Natural variantiVAR_075509198G → R in SPG5A; unknown pathological significance. 1 Publication1
Natural variantiVAR_044383216F → S in SPG5A. 1 PublicationCorresponds to variant dbSNP:rs121908612Ensembl.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:rs587777222Ensembl.1
Natural variantiVAR_075513316A → AA in SPG5A; unknown pathological significance. 1 Publication1
Natural variantiVAR_075514324R → H2 PublicationsCorresponds to variant dbSNP:rs59035258Ensembl.1
Natural variantiVAR_044384363S → F in SPG5A. 1 PublicationCorresponds to variant dbSNP:rs121908610Ensembl.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:rs121908611Ensembl.1
Natural variantiVAR_075516443G → A in SPG5A. 1 Publication1
Natural variantiVAR_075517470F → I in SPG5A. 1 PublicationCorresponds to variant dbSNP:rs267606758Ensembl.1
Natural variantiVAR_075518486R → C in SPG5A. 3 PublicationsCorresponds to variant dbSNP:rs116171274Ensembl.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

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

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: June 7, 2017
This is version 160 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 8
    Human chromosome 8: 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. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families