Cholesterol 24-hydroxylase - Homo sapiens (Human)

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Reviewed, UniProtKB/Swiss-Prot Q9Y6A2 (CP46A_HUMAN)

Last modified June 16, 2009. Version 78. History...

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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 names

Recommended name:
    Cholesterol 24-hydroxylase
      Short name=CH24H
    EC=1.14.13.98
Alternative name(s):
    Cytochrome P450 46A1

Gene names

Name:	CYP46A1
Synonyms:	CYP46

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

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Protein attributes

Sequence length	500 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence 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: K_M=2.2 µM for 24(S)-hydroxycholesterol

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Ontologies

Keywords
Biological process	Cholesterol metabolism Lipid metabolism Steroid metabolism
Cellular component	Endoplasmic reticulum Membrane Microsome
Domain	Transmembrane
Ligand	Heme Iron Metal-binding NADP
Molecular function	Monooxygenase Oxidoreductase
Technical term	3D-structure
Gene Ontology (GO)
Biological process	cholesterol catabolic process Ref.1 Traceable author statement. Source: ProtInc nervous system development Ref.1 Traceable author statement. Source: ProtInc oxidation reduction Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	endoplasmic reticulum membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW microsome Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	cholesterol 24-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 steroid hydroxylase activity Ref.1 Traceable author statement. Source: ProtInc
Complete GO annotation...

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Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 500

500

Cholesterol 24-hydroxylase

PRO_0000051994

Regions

Transmembrane

3 – 23

Potential

Compositional bias

493 – 499

Poly-Pro

Sites

Metal binding

437

Iron (heme axial ligand) By similarity

Secondary structure

500

Helix Strand Turn

Details...

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Sequences

Sequence

Length

Mass (Da)

Tools

Q9Y6A2-1 [UniParc].

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

FASTA

500

56,821

        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

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References

	« Hide 'large scale' referencesShow '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.

IPI

IPI00002133.

RefSeq

NP_006659.1.

UniGene

Hs.25121

3D structure databases

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2Q9F	X-ray	1.90	A	51-500	[»]
2Q9G	X-ray	2.40	A	51-500	[»]

ModBase

Search...

Proteomic databases

PRIDE

Q9Y6A2.

Genome annotation databases

Ensembl

ENSG00000036530. Homo sapiens. [Contig view]

GeneID

10858.

KEGG

hsa:10858.

Organism-specific databases

GeneCards

GC14P099220.

H-InvDB

HIX0011962.
HIX0057012.

HGNC

HGNC:2641. CYP46A1.

MIM

604087. gene.

PharmGKB

PA27117.

GenAtlas

Search...

Phylogenomic databases

HOGENOM

Q9Y6A2.

HOVERGEN

Q9Y6A2.

OMA

Q9Y6A2. CTLRPRG.

Enzyme and pathway databases

BRENDA

1.14.13.98. 247.

Reactome

REACT_13433. Biological oxidations.
REACT_602. Lipid and lipoprotein metabolism.

Gene expression databases

ArrayExpress

Q9Y6A2.

Bgee

Q9Y6A2.

CleanEx

HS_CYP46A1.

GermOnline

ENSG00000036530. Homo sapiens.

Family and domain databases

InterPro

IPR001128. Cyt_P450.
IPR017973. Cyt_P450_C.
IPR017972. Cyt_P450_CS.
IPR002401. Cyt_P450_E_grp-I.
[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

PR00463. EP450I.
PR00385. P450.

PROSITE

PS00086. CYTOCHROME_P450. 1 hit.
[Graphical view]

ProtoNet

Search...

Other Resources

NextBio

41219.

SOURCE

Search...

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Entry information

Entry name

CP46A_HUMAN

Accession

Primary (citable) accession number: Q9Y6A2

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 24, 2001
Last sequence update:	November 1, 1999
Last modified:	June 16, 2009
This is version 78 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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