Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

O75881

- CP7B1_HUMAN

UniProt

O75881 - CP7B1_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

25-hydroxycholesterol 7-alpha-hydroxylase

Gene

CYP7B1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Catalytic activityi

Cholest-5-ene-3-beta,25-diol + NADPH + O2 = cholest-5-ene-3-beta,7-alpha,25-triol + NADP+ + H2O.
(25R)-cholest-5-ene-3-beta,26-diol + NADPH + O2 = (25R)-cholest-5-ene-3-beta,7-alpha,26-triol + NADP+ + H2O.

Cofactori

Heme group.By similarity

Pathwayi

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi449 – 4491Iron (heme axial ligand)By similarity

GO - Molecular functioni

  1. 25-hydroxycholesterol 7alpha-hydroxylase activity Source: UniProtKB-EC
  2. heme binding Source: InterPro
  3. iron ion binding Source: InterPro
  4. oxysterol 7-alpha-hydroxylase activity Source: ProtInc

GO - Biological processi

  1. bile acid biosynthetic process Source: Reactome
  2. bile acid metabolic process Source: Reactome
  3. cell death Source: UniProtKB-KW
  4. cholesterol metabolic process Source: UniProtKB-KW
  5. negative regulation of intracellular estrogen receptor signaling pathway Source: Ensembl
  6. positive regulation of epithelial cell proliferation Source: Ensembl
  7. prostate gland epithelium morphogenesis Source: Ensembl
  8. small molecule metabolic process Source: Reactome
  9. sterol metabolic process Source: Reactome
  10. xenobiotic metabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Monooxygenase, Oxidoreductase

Keywords - Biological processi

Cholesterol metabolism, Lipid metabolism, Steroid metabolism, Sterol metabolism

Keywords - Ligandi

Heme, Iron, Metal-binding, NADP

Enzyme and pathway databases

BRENDAi1.14.13.100. 2681.
ReactomeiREACT_11041. Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol.
REACT_11048. Synthesis of bile acids and bile salts via 27-hydroxycholesterol.
REACT_11054. Synthesis of bile acids and bile salts.
REACT_13812. Endogenous sterols.
UniPathwayiUPA00221.

Names & Taxonomyi

Protein namesi
Recommended name:
25-hydroxycholesterol 7-alpha-hydroxylase (EC:1.14.13.100)
Alternative name(s):
Cytochrome P450 7B1
Oxysterol 7-alpha-hydroxylase
Gene namesi
Name:CYP7B1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:2652. CYP7B1.

Subcellular locationi

GO - Cellular componenti

  1. endoplasmic reticulum membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Microsome

Pathology & Biotechi

Involvement in diseasei

Spastic paraplegia 5A, autosomal recessive (SPG5A) [MIM:270800]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti57 – 571G → R in SPG5A. 1 Publication
VAR_044382
Natural varianti216 – 2161F → S in SPG5A. 1 Publication
VAR_044383
Natural varianti363 – 3631S → F in SPG5A. 1 Publication
VAR_044384
Natural varianti417 – 4171R → H in SPG5A. 1 Publication
VAR_044385
Congenital bile acid synthesis defect 3 (CBAS3) [MIM:613812]: A disorder resulting in severe cholestasis, cirrhosis and liver synthetic failure. Hepatic microsomal oxysterol 7-alpha-hydroxylase activity is undetectable.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Keywords - Diseasei

Disease mutation, Hereditary spastic paraplegia, Intrahepatic cholestasis, Neurodegeneration

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 50650625-hydroxycholesterol 7-alpha-hydroxylasePRO_0000051906Add
BLAST

Proteomic databases

MaxQBiO75881.
PaxDbiO75881.
PRIDEiO75881.

PTM databases

PhosphoSiteiO75881.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiO75881.
CleanExiHS_CYP7B1.
GenevestigatoriO75881.

Organism-specific databases

HPAiHPA017761.

Interactioni

Protein-protein interaction databases

BioGridi114813. 1 interaction.
STRINGi9606.ENSP00000310721.

Structurei

3D structure databases

ProteinModelPortaliO75881.
SMRiO75881. Positions 39-505.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the cytochrome P450 family.Curated

Phylogenomic databases

eggNOGiCOG2124.
GeneTreeiENSGT00550000074551.
HOGENOMiHOG000231026.
HOVERGENiHBG051100.
InParanoidiO75881.
KOiK07430.
OMAiQYQLVIK.
OrthoDBiEOG7J9VP6.
PhylomeDBiO75881.
TreeFamiTF105090.

Family and domain databases

Gene3Di1.10.630.10. 1 hit.
InterProiIPR001128. Cyt_P450.
IPR024204. Cyt_P450_CYP7A1-type.
IPR002403. Cyt_P450_E_grp-IV.
[Graphical view]
PfamiPF00067. p450. 1 hit.
[Graphical view]
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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti324 – 3241R → H in AAC95426. (PubMed:9802883)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti57 – 571G → R in SPG5A. 1 Publication
VAR_044382
Natural varianti216 – 2161F → S in SPG5A. 1 Publication
VAR_044383
Natural varianti363 – 3631S → F in SPG5A. 1 Publication
VAR_044384
Natural varianti417 – 4171R → H in SPG5A. 1 Publication
VAR_044385

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_004820.3.
UniGeneiHs.667720.

Genome annotation databases

EnsembliENST00000310193; ENSP00000310721; ENSG00000172817.
GeneIDi9420.
KEGGihsa:9420.
UCSCiuc003xvj.2. human.

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS6180.1.
RefSeqi NP_004811.1. NM_004820.3.
UniGenei Hs.667720.

3D structure databases

ProteinModelPortali O75881.
SMRi O75881. Positions 39-505.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114813. 1 interaction.
STRINGi 9606.ENSP00000310721.

PTM databases

PhosphoSitei O75881.

Proteomic databases

MaxQBi O75881.
PaxDbi O75881.
PRIDEi O75881.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000310193 ; ENSP00000310721 ; ENSG00000172817 .
GeneIDi 9420.
KEGGi hsa:9420.
UCSCi uc003xvj.2. human.

Organism-specific databases

CTDi 9420.
GeneCardsi GC08M065500.
HGNCi HGNC:2652. CYP7B1.
HPAi HPA017761.
MIMi 270800. phenotype.
603711. gene.
613812. phenotype.
neXtProti NX_O75881.
Orphaneti 100986. Autosomal recessive spastic paraplegia type 5A.
79302. Congenital bile acid synthesis defect type 3.
PharmGKBi PA27124.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG2124.
GeneTreei ENSGT00550000074551.
HOGENOMi HOG000231026.
HOVERGENi HBG051100.
InParanoidi O75881.
KOi K07430.
OMAi QYQLVIK.
OrthoDBi EOG7J9VP6.
PhylomeDBi O75881.
TreeFami TF105090.

Enzyme and pathway databases

UniPathwayi UPA00221 .
BRENDAi 1.14.13.100. 2681.
Reactomei REACT_11041. Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol.
REACT_11048. Synthesis of bile acids and bile salts via 27-hydroxycholesterol.
REACT_11054. Synthesis of bile acids and bile salts.
REACT_13812. Endogenous sterols.

Miscellaneous databases

GeneWikii CYP7B1.
GenomeRNAii 9420.
NextBioi 35286.
PROi O75881.
SOURCEi Search...

Gene expression databases

Bgeei O75881.
CleanExi HS_CYP7B1.
Genevestigatori O75881.

Family and domain databases

Gene3Di 1.10.630.10. 1 hit.
InterProi IPR001128. Cyt_P450.
IPR024204. Cyt_P450_CYP7A1-type.
IPR002403. Cyt_P450_E_grp-IV.
[Graphical view ]
Pfami PF00067. p450. 1 hit.
[Graphical view ]
PIRSFi PIRSF000047. Cytochrome_CYPVIIA1. 1 hit.
PRINTSi PR00465. EP450IV.
PR00385. P450.
SUPFAMi SSF48264. SSF48264. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7-alpha-hydroxylase gene causes severe neonatal liver disease."
    Setchell K.D.R., Schwarz M., O'Connell N.C., Lund E.G., Davis D.L., Lathe R., Thompson H.R., Tyson W.R., Sokol R.J., Russell D.W.
    J. Clin. Invest. 102:1690-1703(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], INVOLVEMENT IN CBAS3.
    Tissue: Liver and Spleen.
  2. "Structure and functions of human oxysterol 7alpha-hydroxylase cDNAs and gene CYP7B1."
    Wu Z.L., Martin K.O., Javitt N.B., Chiang J.Y.L.
    J. Lipid Res. 40:2195-2203(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
    Tissue: Hippocampus.
  3. 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].
  5. Cited for: VARIANTS SPG5A ARG-57; SER-216; PHE-363 AND HIS-417.

Entry informationi

Entry nameiCP7B1_HUMAN
AccessioniPrimary (citable) accession number: O75881
Secondary accession number(s): B2RN07, Q9UNF5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: February 11, 2002
Last modified: October 29, 2014
This is version 134 of the entry and version 2 of the sequence. [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

External Data

Dasty 3