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O75881 (CP7B1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 129. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
25-hydroxycholesterol 7-alpha-hydroxylase

EC=1.14.13.100
Alternative name(s):
Cytochrome P450 7B1
Oxysterol 7-alpha-hydroxylase
Gene names
Name:CYP7B1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length506 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Catalytic activity

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.

Cofactor

Heme group By similarity.

Pathway

Lipid metabolism; bile acid biosynthesis.

Subcellular location

Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein.

Tissue specificity

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

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1

Sequence similarities

Belongs to the cytochrome P450 family.

Ontologies

Keywords
   Biological processCholesterol metabolism
Lipid metabolism
Steroid metabolism
Sterol metabolism
   Cellular componentEndoplasmic reticulum
Membrane
Microsome
   DiseaseDisease mutation
Hereditary spastic paraplegia
Intrahepatic cholestasis
Neurodegeneration
   LigandHeme
Iron
Metal-binding
NADP
   Molecular functionMonooxygenase
Oxidoreductase
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processbile acid biosynthetic process

Traceable author statement. Source: Reactome

bile acid metabolic process

Traceable author statement. Source: Reactome

cell death

Inferred from electronic annotation. Source: UniProtKB-KW

cholesterol metabolic process

Inferred from electronic annotation. Source: UniProtKB-KW

negative regulation of intracellular estrogen receptor signaling pathway

Inferred from electronic annotation. Source: Ensembl

positive regulation of epithelial cell proliferation

Inferred from electronic annotation. Source: Ensembl

prostate gland epithelium morphogenesis

Inferred from electronic annotation. Source: Ensembl

small molecule metabolic process

Traceable author statement. Source: Reactome

sterol metabolic process

Traceable author statement. Source: Reactome

xenobiotic metabolic process

Traceable author statement. Source: Reactome

   Cellular_componentendoplasmic reticulum membrane

Traceable author statement. Source: Reactome

   Molecular_function25-hydroxycholesterol 7alpha-hydroxylase activity

Inferred from electronic annotation. Source: UniProtKB-EC

heme binding

Inferred from electronic annotation. Source: InterPro

iron ion binding

Inferred from electronic annotation. Source: InterPro

oxysterol 7-alpha-hydroxylase activity

Traceable author statement Ref.1. Source: ProtInc

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 50650625-hydroxycholesterol 7-alpha-hydroxylase
PRO_0000051906

Sites

Metal binding4491Iron (heme axial ligand) By similarity

Natural variations

Natural variant571G → R in SPG5A. Ref.5
VAR_044382
Natural variant2161F → S in SPG5A. Ref.5
VAR_044383
Natural variant3631S → F in SPG5A. Ref.5
VAR_044384
Natural variant4171R → H in SPG5A. Ref.5
VAR_044385

Experimental info

Sequence conflict3241R → H in AAC95426. Ref.1

Sequences

Sequence LengthMass (Da)Tools
O75881 [UniParc].

Last modified February 11, 2002. Version 2.
Checksum: 07D3D4B801B6DBD9

FASTA50658,256
        10         20         30         40         50         60 
MAGEVSAATG RFSLERLGLP GLALAAALLL LALCLLVRRT RRPGEPPLIK GWLPYLGVVL 

        70         80         90        100        110        120 
NLRKDPLRFM KTLQKQHGDT FTVLLGGKYI TFILDPFQYQ LVIKNHKQLS FRVFSNKLLE 

       130        140        150        160        170        180 
KAFSISQLQK NHDMNDELHL CYQFLQGKSL DILLESMMQN LKQVFEPQLL KTTSWDTAEL 

       190        200        210        220        230        240 
YPFCSSIIFE ITFTTIYGKV IVCDNNKFIS ELRDDFLKFD DKFAYLVSNI PIELLGNVKS 

       250        260        270        280        290        300 
IREKIIKCFS SEKLAKMQGW SEVFQSRQDV LEKYYVHEDL EIGAHHLGFL WASVANTIPT 

       310        320        330        340        350        360 
MFWAMYYLLR HPEAMAAVRD EIDRLLQSTG QKKGSGFPIH LTREQLDSLI CLESSIFEAL 

       370        380        390        400        410        420 
RLSSYSTTIR FVEEDLTLSS ETGDYCVRKG DLVAIFPPVL HGDPEIFEAP EEFRYDRFIE 

       430        440        450        460        470        480 
DGKKKTTFFK RGKKLKCYLM PFGTGTSKCP GRFFALMEIK QLLVILLTYF DLEIIDDKPI 

       490        500 
GLNYSRLLFG IQYPDSDVLF RYKVKS 

« Hide

References

« Hide 'large scale' references
[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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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]"Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration."
Tsaousidou M.K., Ouahchi K., Warner T.T., Yang Y., Simpson M.A., Laing N.G., Wilkinson P.A., Madrid R.E., Patel H., Hentati F., Patton M.A., Hentati A., Lamont P.J., Siddique T., Crosby A.H.
Am. J. Hum. Genet. 82:510-515(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS SPG5A ARG-57; SER-216; PHE-363 AND HIS-417.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF029403 mRNA. Translation: AAC95426.1.
AF127090 mRNA. Translation: AAD20021.1.
AF176805 expand/collapse EMBL AC list , AF176800, AF176801, AF176802, AF176803, AF176804 Genomic DNA. Translation: AAK11850.1.
CH471068 Genomic DNA. Translation: EAW86877.1.
BC136574 mRNA. Translation: AAI36575.1.
RefSeqNP_004811.1. NM_004820.3.
UniGeneHs.667720.

3D structure databases

ProteinModelPortalO75881.
SMRO75881. Positions 39-505.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid114813. 1 interaction.
STRING9606.ENSP00000310721.

PTM databases

PhosphoSiteO75881.

Proteomic databases

PaxDbO75881.
PRIDEO75881.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000310193; ENSP00000310721; ENSG00000172817.
GeneID9420.
KEGGhsa:9420.
UCSCuc003xvj.2. human.

Organism-specific databases

CTD9420.
GeneCardsGC08M065500.
HGNCHGNC:2652. CYP7B1.
HPAHPA017761.
MIM270800. phenotype.
603711. gene.
613812. phenotype.
neXtProtNX_O75881.
Orphanet100986. Autosomal recessive spastic paraplegia type 5A.
79302. Congenital bile acid synthesis defect type 3.
PharmGKBPA27124.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG2124.
HOGENOMHOG000231026.
HOVERGENHBG051100.
InParanoidO75881.
KOK07430.
OMAQYQLVIK.
OrthoDBEOG7J9VP6.
PhylomeDBO75881.
TreeFamTF105090.

Enzyme and pathway databases

BRENDA1.14.13.100. 2681.
ReactomeREACT_111217. Metabolism.
UniPathwayUPA00221.

Gene expression databases

BgeeO75881.
CleanExHS_CYP7B1.
GenevestigatorO75881.

Family and domain databases

Gene3D1.10.630.10. 1 hit.
InterProIPR001128. Cyt_P450.
IPR024204. Cyt_P450_CYP7A1-type.
IPR002403. Cyt_P450_E_grp-IV.
[Graphical view]
PfamPF00067. p450. 1 hit.
[Graphical view]
PIRSFPIRSF000047. Cytochrome_CYPVIIA1. 1 hit.
PRINTSPR00465. EP450IV.
PR00385. P450.
SUPFAMSSF48264. SSF48264. 1 hit.
ProtoNetSearch...

Other

GeneWikiCYP7B1.
GenomeRNAi9420.
NextBio35286.
PROO75881.
SOURCESearch...

Entry information

Entry nameCP7B1_HUMAN
AccessionPrimary (citable) accession number: O75881
Secondary accession number(s): B2RN07, Q9UNF5
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: February 11, 2002
Last modified: April 16, 2014
This is version 129 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM