25-hydroxycholesterol 7-alpha-hydroxylase

Contribute

Send feedback

Read comments (?) or add your own

O75881 (CP7B1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified January 25, 2012. Version 108. History...

Clusters with 100%, 90%, 50% identity |

Documents (6) |

Third-party data

text xml rdf/xml gff fasta

Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·Documents Customize order

Names and origin

Protein names

Recommended name:
25-hydroxycholesterol 7-alpha-hydroxylase
Short name=Oxysterol 7-alpha-hydroxylase
EC=1.14.13.100

Alternative name(s):
Cytochrome P450 7B1

Gene names

Name:

CYP7B1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	506 AA.
Sequence status	Complete.
Protein existence	Evidence 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. Cholest-5-ene-3-beta,27-diol + NADPH + O₂ = cholest-5-ene-3-beta,7-alpha,27-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	Defects in CYP7B1 are the cause of spastic paraplegia autosomal recessive type 5A (SPG5A) [MIM:270800]. Spastic paraplegia is 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. Ref.5 Defects in CYP7B1 are the cause of congenital bile acid synthesis defect type 3 (CBAS3) [MIM:613812]. Clinical features include severe cholestasis, cirrhosis and liver synthetic failure. Hepatic microsomal oxysterol 7-alpha-hydroxylase activity is undetectable. Ref.1
Sequence similarities	Belongs to the cytochrome P450 family.

Ontologies

Keywords
Biological process	Cholesterol metabolism Lipid metabolism Steroid metabolism
Cellular component	Endoplasmic reticulum Membrane Microsome
Disease	Disease mutation Hereditary spastic paraplegia Intrahepatic cholestasis Neurodegeneration
Ligand	Heme Iron Metal-binding NADP
Molecular function	Monooxygenase Oxidoreductase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	bile acid biosynthetic 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 xenobiotic metabolic process Traceable author statement. Source: Reactome
Cellular component	endoplasmic reticulum membrane Traceable author statement. Source: Reactome microsome Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	25-hydroxycholesterol 7alpha-hydroxylase activity Inferred from electronic annotation. Source: EC electron carrier activity Inferred from electronic annotation. Source: InterPro heme binding Inferred from electronic annotation. Source: InterPro oxysterol 7-alpha-hydroxylase activity Traceable author statement. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 506

506

25-hydroxycholesterol 7-alpha-hydroxylase

PRO_0000051906

Sites

Metal binding

449

Iron (heme axial ligand) By similarity

Natural variations

Natural variant

G → R in SPG5A. Ref.5

VAR_044382

Natural variant

216

F → S in SPG5A. Ref.5

VAR_044383

Natural variant

363

S → F in SPG5A. Ref.5

VAR_044384

Natural variant

417

R → H in SPG5A. Ref.5

VAR_044385

Experimental info

Sequence conflict

324

R → H in AAC95426. Ref.1

Sequences

Sequence

Length

Mass (Da)

Tools

O75881 [UniParc].

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

FASTA

506

58,256

        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' referencesShow '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: 9802883] [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: 10588945] [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. 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: 15489334] [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: 18252231] [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 AF176804 Genomic DNA. Translation: AAK11850.1. CH471068 Genomic DNA. Translation: EAW86877.1. BC136574 mRNA. Translation: AAI36575.1.
IPI	IPI00027234.
RefSeq	NP_004811.1. NM_004820.3.
UniGene	Hs.667720.
3D structure databases
ProteinModelPortal	O75881.
SMR	O75881. Positions 39-506.
ModBase	Search...
Protein-protein interaction databases
STRING	O75881.
PTM databases
PhosphoSite	O75881.
Proteomic databases
PRIDE	O75881.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000310193; ENSP00000310721; ENSG00000172817.
GeneID	9420.
KEGG	hsa:9420.
UCSC	uc003xvj.2. human.
Organism-specific databases
CTD	9420.
GeneCards	GC08M065558.
H-InvDB	HIX0034244.
HGNC	HGNC:2652. CYP7B1.
HPA	HPA017761.
MIM	270800. phenotype. 603711. gene. 613812. phenotype.
neXtProt	NX_O75881.
Orphanet	100986. Autosomal recessive spastic paraplegia type 5A. 79302. Congenital bile acid synthesis defect type 3.
PharmGKB	PA27124.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG18480.
HOGENOM	HBG446017.
HOVERGEN	HBG051100.
InParanoid	O75881.
OMA	PTMFWAM.
OrthoDB	EOG476K08.
PhylomeDB	O75881.
Enzyme and pathway databases
BRENDA	1.14.13.100. 2681.
Reactome	REACT_111217. Metabolism. REACT_22258. Metabolism of lipids and lipoproteins.
Gene expression databases
ArrayExpress	O75881.
Bgee	O75881.
CleanEx	HS_CYP7B1.
Genevestigator	O75881.
GermOnline	ENSG00000172817. Homo sapiens.
Family and domain databases
InterPro	IPR001128. Cyt_P450. IPR024204. Cyt_P450_CYP7A1-type. IPR002403. Cyt_P450_E_grp-IV. [Graphical view]
Gene3D	G3DSA:1.10.630.10. Cyt_P450. 1 hit.
KO	K07430.
Pfam	PF00067. p450. 1 hit. [Graphical view]
PIRSF	PIRSF000047. Cytochrome_CYPVIIA1. 1 hit.
PRINTS	PR00465. EP450IV. PR00385. P450.
SUPFAM	SSF48264. Cytochrome_P450. 1 hit.
PROSITE	PS00086. CYTOCHROME_P450. False negative. [Graphical view]
ProtoNet	Search...
Other
NextBio	35286.
SOURCE	Search...

Entry information

Entry name

CP7B1_HUMAN

Accession

Primary (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:	January 25, 2012
This is version 108 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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

Human chromosome 8

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

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

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

PATHWAY comments

Index of metabolic and biosynthesis pathways

SIMILARITY comments

Index of protein domains and families

Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·Documents

Preferred order of sections

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Sequence annotation (Features)

Molecule processing

Sites

Natural variations

Experimental info

Sequences

References

Cross-references

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Gene expression databases

Family and domain databases

Other

Entry information

Relevant documents