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Reviewed, UniProtKB/Swiss-Prot Q9Y6A2 (CP46A_HUMAN)

Last modified November 3, 2009. Version 84. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | 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 · Cross-references · Entry information · Relevant documents

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Names and origin

Protein namesRecommended name:
    Cholesterol 24-hydroxylase
      Short name=CH24H
    EC=1.14.13.98
Alternative name(s):
    Cytochrome P450 46A1
Gene names
Name: CYP46A1
Synonyms: CYP46
OrganismHomo sapiens (Human) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length500 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

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General annotation (Comments)

Function

Involved in the turnover of cholesterol. It converts cholesterol into 24S-hydroxycholesterol and, to a lesser extent, 25-hydroxycholesterol.

Catalytic activity

Cholesterol + NADPH + O2 = (24S)-24-hydroxycholesterol + NADP+ + H2O.

Cofactor

Heme group By similarity.

Subcellular location

Endoplasmic reticulum membrane; Single-pass membrane protein. Microsome membrane; Single-pass membrane protein.

Tissue specificity

Expressed in brain. The mRNA was broadly distributed with higher levels in gray matter zones and lower levels in regions rich in white matter. Not detected in fetal sample but its expression increases linearly with age.

Sequence similarities

Belongs to the cytochrome P450 family.

Biophysicochemical properties

Kinetic parameters:

KM=2.2 µM for 24(S)-hydroxycholesterol

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Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 500500Cholesterol 24-hydroxylase
PRO_0000051994

Regions

Transmembrane3 – 2321 Potential
Compositional bias493 – 4997Poly-Pro

Sites

Metal binding4371Iron (heme axial ligand) By similarity

Secondary structure

1 ......................................................................... 500
Helix Strand Turn

Details...

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Sequences

Sequence LengthMass (Da)Tools
Q9Y6A2-1 [UniParc].

Last modified November 1, 1999. Version 1.
Checksum: AB9307749D9E5FDA

FASTA50056,821
        10         20         30         40         50         60 
MSPGLLLLGS AVLLAFGLCC TFVHRARSRY EHIPGPPRPS FLLGHLPCFW KKDEVGGRVL 

        70         80         90        100        110        120 
QDVFLDWAKK YGPVVRVNVF HKTSVIVTSP ESVKKFLMST KYNKDSKMYR ALQTVFGERL 

       130        140        150        160        170        180 
FGQGLVSECN YERWHKQRRV IDLAFSRSSL VSLMETFNEK AEQLVEILEA KADGQTPVSM 

       190        200        210        220        230        240 
QDMLTYTAMD ILAKAAFGME TSMLLGAQKP LSQAVKLMLE GITASRNTLA KFLPGKRKQL 

       250        260        270        280        290        300 
REVRESIRFL RQVGRDWVQR RREALKRGEE VPADILTQIL KAEEGAQDDE GLLDNFVTFF 

       310        320        330        340        350        360 
IAGHETSANH LAFTVMELSR QPEIVARLQA EVDEVIGSKR YLDFEDLGRL QYLSQVLKES 

       370        380        390        400        410        420 
LRLYPPAWGT FRLLEEETLI DGVRVPGNTP LLFSTYVMGR MDTYFEDPLT FNPDRFGPGA 

       430        440        450        460        470        480 
PKPRFTYFPF SLGHRSCIGQ QFAQMEVKVV MAKLLQRLEF RLVPGQRFGL QEQATLKPLD 

       490        500 
PVLCTLRPRG WQPAPPPPPC

« Hide

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References

« Hide 'large scale' references
[1]"cDNA cloning of cholesterol 24-hydroxylase, a mediator of cholesterol homeostasis in the brain."
Lund E.G., Guileyardo J.M., Russell D.W.
Proc. Natl. Acad. Sci. U.S.A. 96:7238-7243(1999) [PubMed: 10377398] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Fetal brain.
[2]"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: Brain.
[3]"Broad substrate specificity of human cytochrome P450 46A1 which initiates cholesterol degradation in the brain."
Mast N., Norcross R., Andersson U., Shou M., Nakayama K., Bjoerkhem I., Pikuleva I.A.
Biochemistry 42:14284-14292(2003) [PubMed: 14640697] [Abstract]
Cited for: CHARACTERIZATION, BIOPHYSICOCHEMICAL PROPERTIES.
+Additional computationally mapped references.

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Cross-references

Sequence databases

AF094480 mRNA. Translation: AAD41244.1.
BC022539 mRNA. Translation: AAH22539.1.
IPIIPI00002133.
RefSeqNP_006659.1.
UniGeneHs.25121

3D structure databases

EntryMethodResolution (Å)ChainPositionsPDBsum
2Q9FX-ray1.90A51-500[»]
2Q9GX-ray2.40A51-500[»]
ModBaseSearch...

Protein-protein interaction databases

STRINGQ9Y6A2.

Proteomic databases

PRIDEQ9Y6A2.

Genome annotation databases

EnsemblENST00000261835; ENSP00000261835; ENSG00000036530; Homo sapiens. [Genome view]
ENST00000380228; ENSP00000369577; ENSG00000036530; Homo sapiens. [Genome view]
GeneID10858.
KEGGhsa:10858.
UCSCuc001ygo.1. human.

Organism-specific databases

CTD10858.
GeneCardsGC14P099220.
H-InvDBHIX0011962.
HIX0057012.
HGNCHGNC:2641. CYP46A1.
MIM604087. gene.
PharmGKBPA27117.
GenAtlasSearch...

Phylogenomic databases

HOGENOMQ9Y6A2.
HOVERGENQ9Y6A2.
OMACTLRPRG.

Enzyme and pathway databases

BRENDA1.14.13.98. 247.
ReactomeREACT_13433. Biological oxidations.
REACT_602. Metabolism of lipids and lipoproteins.

Gene expression databases

ArrayExpressQ9Y6A2.
BgeeQ9Y6A2.
CleanExHS_CYP46A1.
GenevestigatorQ9Y6A2.
GermOnlineENSG00000036530. Homo sapiens.

Family and domain databases

InterProIPR001128. Cyt_P450.
IPR017973. Cyt_P450_C.
IPR017972. Cyt_P450_CS.
IPR002401. Cyt_P450_E_grp-I.
[Graphical view]
Gene3DG3DSA:1.10.630.10. Cyt_P450. 1 hit.
PANTHERPTHR19383. Cyt_P450. 1 hit.
PfamPF00067. p450. 1 hit.
[Graphical view]
PRINTSPR00463. EP450I.
PR00385. P450.
PROSITEPS00086. CYTOCHROME_P450. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio41219.
SOURCESearch...

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Entry information

Entry nameCP46A_HUMAN
AccessionPrimary (citable) accession number: Q9Y6A2
Entry history
Integrated into UniProtKB/Swiss-Prot: January 24, 2001
Last sequence update: November 1, 1999
Last modified: November 3, 2009
This is version 84 of the entry and version 1 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.

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Relevant documents

Human chromosome 14

Human chromosome 14: entries, gene names and cross-references to MIM

MIM cross-references

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

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 · Cross-references · Entry information · Relevant documents