Cholesterol 7-alpha-monooxygenase - Homo sapiens (Human)

Contribute

Send feedback

Read comments (0) or add your own

Reviewed, UniProtKB/Swiss-Prot P22680 (CP7A1_HUMAN)

Last modified November 3, 2009. Version 100. History...

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

Documents (7) |

Third-party data |

Customize display

text xml rdf/xml gff fasta

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Hide | Top

Names and origin

Protein names

Recommended name:
    Cholesterol 7-alpha-monooxygenase
    EC=1.14.13.17
Alternative name(s):
    Cytochrome P450 7A1
    CYPVII
    Cholesterol 7-alpha-hydroxylase

Gene names

Name:	CYP7A1
Synonyms:	CYP7

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

Hide | Top

Protein attributes

Sequence length	504 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

Hide | Top

General annotation (Comments)

Catalytic activity	Cholesterol + NADPH + O₂ = 7-alpha-hydroxycholesterol + 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.
Sequence similarities	Belongs to the cytochrome P450 family.

Hide | Top

Ontologies

Keywords
Biological process	Cholesterol metabolism Lipid metabolism Steroid metabolism
Cellular component	Endoplasmic reticulum Membrane Microsome
Coding sequence diversity	Polymorphism
Ligand	Heme Iron Metal-binding NADP
Molecular function	Monooxygenase Oxidoreductase
Technical term	3D-structure Complete proteome
Gene Ontology (GO)
Biological process	oxidation reduction Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	endoplasmic reticulum membrane Ref.2 Inferred from Experiment. Source: Reactome extrinsic to membrane Inferred from electronic annotation. Source: UniProtKB-SubCell microsome Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	cholesterol 7-alpha-monooxygenase activity Ref.2 Inferred from Experiment. Source: Reactome electron carrier activity Inferred from electronic annotation. Source: InterPro heme binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Hide | Top

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 504

504

Cholesterol 7-alpha-monooxygenase

PRO_0000051901

Sites

Metal binding

444

Iron (heme axial ligand) By similarity

Natural variations

Natural variant

H → N: dbSNP rs62621283.

VAR_059152

Natural variant

100

F → S

VAR_001259

Natural variant

233

N → S: dbSNP rs8192874. Ref.7

VAR_018376

Natural variant

347

D → N: dbSNP rs8192875. Ref.7 Ref.2

VAR_018377

Experimental info

Sequence conflict

385

D → S in CAA39568. Ref.2

Secondary structure

504

Helix Strand Turn

Details...

Hide | Top

Sequences

Sequence

Length

Mass (Da)

Tools

P22680-1 [UniParc].

Last modified June 1, 1994. Version 2.
Checksum: D8067E0FF6342949
Show »

FASTA

504

57,661

        10         20         30         40         50         60 
MMTTSLIWGI AIAACCCLWL ILGIRRRQTG EPPLENGLIP YLGCALQFGA NPLEFLRANQ 

        70         80         90        100        110        120 
RKHGHVFTCK LMGKYVHFIT NPLSYHKVLC HGKYFDWKKF HFATSAKAFG HRSIDPMDGN 

       130        140        150        160        170        180 
TTENINDTFI KTLQGHALNS LTESMMENLQ RIMRPPVSSN SKTAAWVTEG MYSFCYRVMF 

       190        200        210        220        230        240 
EAGYLTIFGR DLTRRDTQKA HILNNLDNFK QFDKVFPALV AGLPIHMFRT AHNAREKLAE 

       250        260        270        280        290        300 
SLRHENLQKR ESISELISLR MFLNDTLSTF DDLEKAKTHL VVLWASQANT IPATFWSLFQ 

       310        320        330        340        350        360 
MIRNPEAMKA ATEEVKRTLE NAGQKVSLEG NPICLSQAEL NDLPVLDSII KESLRLSSAS 

       370        380        390        400        410        420 
LNIRTAKEDF TLHLEDGSYN IRKDDIIALY PQLMHLDPEI YPDPLTFKYD RYLDENGKTK 

       430        440        450        460        470        480 
TTFYCNGLKL KYYYMPFGSG ATICPGRLFA IHEIKQFLIL MLSYFELELI EGQAKCPPLD 

       490        500 
QSRAGLGILP PLNDIEFKYK FKHL

« Hide

Hide | Top

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Structure of the gene encoding human liver cholesterol 7 alpha-hydroxylase." Nishimoto M., Noshiro M., Okuda K. Biochim. Biophys. Acta 1172:147-150(1993) [PubMed: 8439551] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]	"Molecular cloning and sequence analysis of cDNA encoding human cholesterol 7 alpha-hydroxylase." Noshiro M., Okuda K. FEBS Lett. 268:137-140(1990) [PubMed: 2384150] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT ASN-347.
[3]	"Polymorphisms of human cholesterol 7 alpha-hydroxylase." Karam W.G., Chiang J.Y. Biochem. Biophys. Res. Commun. 185:588-595(1992) [PubMed: 1610352] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT SER-100.
[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]. Tissue: Liver.
[5]	"Structure and nucleotide sequences of the human cholesterol 7 alpha-hydroxylase gene (CYP7)." Wang D.P., Chiang J.Y. Genomics 20:320-323(1994) [PubMed: 8020987] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-140. Tissue: Placenta.
[6]	"Transcriptional regulation of the human cholesterol 7 alpha-hydroxylase gene." Molowa D.T., Chen W.S., Cimis G.M., Tan C.P. Biochemistry 31:2539-2544(1992) [PubMed: 1312351] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-25.
[7]	"Catalog of 680 variations among eight cytochrome p450 (CYP) genes, nine esterase genes, and two other genes in the Japanese population." Saito S., Iida A., Sekine A., Kawauchi S., Higuchi S., Ogawa C., Nakamura Y. J. Hum. Genet. 48:249-270(2003) [PubMed: 12721789] [Abstract] Cited for: VARIANTS SER-233 AND ASN-347.
+	Additional computationally mapped references.

Hide | Top

Web resources

Wikipedia

Cholesterol-7 alpha-hydroxylase entry

Hide | Top

Cross-references

Sequence databases

X56088 mRNA. Translation: CAA39568.1.
M93133 mRNA. Translation: AAA58435.1.
BC101777 mRNA. Translation: AAI01778.1.
BC112184 mRNA. Translation: AAI12185.1.
L13460 Genomic DNA. Translation: AAA61350.1.
M89647 Genomic DNA. Translation: AAA58423.1.

IPI

IPI00305356.

PIR

JH0659. S29818.

RefSeq

NP_000771.2.

UniGene

Hs.1644

3D structure databases

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
3DAX	X-ray	2.15	A/B	25-503	[»]

ModBase

Search...

Protein-protein interaction databases

STRING

P22680.

Proteomic databases

PRIDE

P22680.

Genome annotation databases

Ensembl

ENST00000301645; ENSP00000301645; ENSG00000167910; Homo sapiens. [Genome view]

GeneID

1581.

KEGG

hsa:1581.

UCSC

uc003xtm.2. human.

Organism-specific databases

CTD

1581.

GeneCards

GC08M059565.

HGNC

HGNC:2651. CYP7A1.

HPA

HPA010970.

MIM

118455. gene.

PharmGKB

PA132.

GenAtlas

Search...

Phylogenomic databases

HOGENOM

P22680.

HOVERGEN

P22680.

OMA

PATFWSL.

Enzyme and pathway databases

BRENDA

1.14.13.17. 247.

Reactome

REACT_13433. Biological oxidations.
REACT_602. Metabolism of lipids and lipoproteins.

Gene expression databases

ArrayExpress

P22680.

Bgee

P22680.

CleanEx

HS_CYP7A1.

Genevestigator

P22680.

GermOnline

ENSG00000167910. Homo sapiens.

Family and domain databases

InterPro

IPR001128. Cyt_P450.
IPR017973. Cyt_P450_C.
IPR017972. Cyt_P450_CS.
IPR002403. Cyt_P450_E_grp-IV.
[Graphical view]

Gene3D

G3DSA:1.10.630.10. Cyt_P450. 1 hit.

PANTHER

PTHR19383. Cyt_P450. 1 hit.

Pfam

PF00067. p450. 1 hit.
[Graphical view]

PRINTS

PR00465. EP450IV.
PR00385. P450.

PROSITE

PS00086. CYTOCHROME_P450. 1 hit.
[Graphical view]

ProtoNet

Search...

Other Resources

NextBio

6495.

SOURCE

Search...

Hide | Top

Entry information

Entry name

CP7A1_HUMAN

Accession

Primary (citable) accession number: P22680
Secondary accession number(s): P78454, Q3MIL8, Q7KZ19

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 1, 1991
Last sequence update:	June 1, 1994
Last modified:	November 3, 2009
This is version 100 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.

Hide | Top