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Q9Y6A2 (CP46A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified January 25, 2012. Version 106. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
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to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

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)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length500 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

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 Ref.3

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 500500Cholesterol 24-hydroxylase
PRO_0000051994

Regions

Transmembrane3 – 2321Helical; Potential
Compositional bias493 – 4997Poly-Pro

Sites

Metal binding4371Iron (heme axial ligand) By similarity

Secondary structure

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

Details...

Sequences

Sequence LengthMass (Da)Tools
Q9Y6A2 [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

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.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ		AF094480 mRNA. Translation: AAD41244.1.
BC022539 mRNA. Translation: AAH22539.1.
IPIIPI00002133.
RefSeqNP_006659.1. NM_006668.1.
UniGeneHs.25121.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2Q9FX-ray1.90A51-500[»]
2Q9GX-ray2.40A51-500[»]
3MDMX-ray1.60A51-500[»]
3MDRX-ray2.00A/B51-500[»]
3MDTX-ray2.30A/B51-500[»]
3MDVX-ray2.40A/B51-500[»]
ProteinModelPortalQ9Y6A2.
SMRQ9Y6A2. Positions 31-491.
ModBaseSearch...

Protein-protein interaction databases

STRINGQ9Y6A2.

PTM databases

PhosphoSiteQ9Y6A2.

Polymorphism databases

DMDM12585217.

Proteomic databases

PRIDEQ9Y6A2.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000261835; ENSP00000261835; ENSG00000036530.
GeneID10858.
KEGGhsa:10858.
UCSCuc001ygo.1. human.

Organism-specific databases

CTD10858.
GeneCardsGC14P100150.
H-InvDBHIX0202069.
HGNCHGNC:2641. CYP46A1.
HPAHPA040702.
MIM604087. gene.
neXtProtNX_Q9Y6A2.
PharmGKBPA27117.
GenAtlasSearch...

Phylogenomic databases

GeneTreeENSGT00540000069787.
HOGENOMHBG403089.
HOVERGENHBG102502.
InParanoidQ9Y6A2.
OMACTLRPRG.
OrthoDBEOG4JHCFW.
PhylomeDBQ9Y6A2.

Enzyme and pathway databases

BRENDA1.14.13.98. 2681.
ReactomeREACT_111217. Metabolism.
REACT_22258. Metabolism of lipids and lipoproteins.

Gene expression databases

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

Family and domain databases

InterProIPR001128. Cyt_P450.
IPR017972. Cyt_P450_CS.
IPR002401. Cyt_P450_E_grp-I.
[Graphical view]
Gene3DG3DSA:1.10.630.10. Cyt_P450. 1 hit.
KOK07440.
PfamPF00067. p450. 1 hit.
[Graphical view]
PRINTSPR00463. EP450I.
PR00385. P450.
SUPFAMSSF48264. Cytochrome_P450. 1 hit.
PROSITEPS00086. CYTOCHROME_P450. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio41219.
SOURCESearch...

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: January 25, 2012
This is version 106 of the entry and version 1 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

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

to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·Documents