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Reviewed, UniProtKB/Swiss-Prot P22680 (CP7A1_HUMAN)

Last modified November 3, 2009. Version 100. Feed 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

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length504 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 504504Cholesterol 7-alpha-monooxygenase
PRO_0000051901

Sites

Metal binding4441Iron (heme axial ligand) By similarity

Natural variations

Natural variant861H → N: dbSNP rs62621283.
VAR_059152
Natural variant1001F → S
VAR_001259
Natural variant2331N → S: dbSNP rs8192874. Ref.7
VAR_018376
Natural variant3471D → N: dbSNP rs8192875. Ref.7 Ref.2
VAR_018377

Experimental info

Sequence conflict3851D → S in CAA39568. Ref.2

Secondary structure

...................................................................... 504
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
P22680-1 [UniParc].

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

FASTA50457,661
        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

References

« Hide '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.

Web resources

Wikipedia

Cholesterol-7 alpha-hydroxylase entry

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.
IPIIPI00305356.
PIRJH0659. S29818.
RefSeqNP_000771.2.
UniGeneHs.1644

3D structure databases

EntryMethodResolution (Å)ChainPositionsPDBsum
3DAXX-ray2.15A/B25-503[»]
ModBaseSearch...

Protein-protein interaction databases

STRINGP22680.

Proteomic databases

PRIDEP22680.

Genome annotation databases

EnsemblENST00000301645; ENSP00000301645; ENSG00000167910; Homo sapiens. [Genome view]
GeneID1581.
KEGGhsa:1581.
UCSCuc003xtm.2. human.

Organism-specific databases

CTD1581.
GeneCardsGC08M059565.
HGNCHGNC:2651. CYP7A1.
HPAHPA010970.
MIM118455. gene.
PharmGKBPA132.
GenAtlasSearch...

Phylogenomic databases

HOGENOMP22680.
HOVERGENP22680.
OMAPATFWSL.

Enzyme and pathway databases

BRENDA1.14.13.17. 247.
ReactomeREACT_13433. Biological oxidations.
REACT_602. Metabolism of lipids and lipoproteins.

Gene expression databases

ArrayExpressP22680.
BgeeP22680.
CleanExHS_CYP7A1.
GenevestigatorP22680.
GermOnlineENSG00000167910. Homo sapiens.

Family and domain databases

InterProIPR001128. Cyt_P450.
IPR017973. Cyt_P450_C.
IPR017972. Cyt_P450_CS.
IPR002403. Cyt_P450_E_grp-IV.
[Graphical view]
Gene3DG3DSA:1.10.630.10. Cyt_P450. 1 hit.
PANTHERPTHR19383. Cyt_P450. 1 hit.
PfamPF00067. p450. 1 hit.
[Graphical view]
PRINTSPR00465. EP450IV.
PR00385. P450.
PROSITEPS00086. CYTOCHROME_P450. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio6495.
SOURCESearch...

Entry information

Entry nameCP7A1_HUMAN
AccessionPrimary (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 statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)
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

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

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

SIMILARITY comments

Index of protein domains and families

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