Cytochrome P450 51A1 - Homo sapiens (Human)

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Reviewed, UniProtKB/Swiss-Prot Q16850 (CP51A_HUMAN)

Last modified November 4, 2008. 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:
    Cytochrome P450 51A1
    EC=1.14.13.70
Alternative name(s):
    CYPLI
    P450LI
    Sterol 14-alpha demethylase
    Lanosterol 14-alpha demethylase
      Short name=LDM
    P450-14DM
      Short name=P45014DM

Gene names

Name:	CYP51A1
Synonyms:	CYP51

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	503 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript level.

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General annotation (Comments)

Function	Catalyzes C14-demethylation of lanosterol; it transforms lanosterol into 4,4'-dimethyl cholesta-8,14,24-triene-3-beta-ol.
Catalytic activity	Obtusifoliol + 3 O(2) + 3 NADPH = 4-alpha-methyl-5-alpha-ergosta-8,14,24(28)-trien-3-beta-ol + formate + 3 NADP(+) + 4 H(2)O.
Cofactor	Heme group By similarity.
Pathway	Steroid biosynthesis; zymosterol biosynthesis; zymosterol from lanosterol: step 1/6.
Subcellular location	Endoplasmic reticulum membranePotential. Microsome membranePotential.
Tissue specificity	Ubiquitously expressed with highest levels in testis, ovary, adrenal, prostrate, liver, kidney and lung.
Sequence similarities	Belongs to the cytochrome P450 family.

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Ontologies

Keywords
Biological process	Cholesterol biosynthesis Lipid synthesis Steroid biosynthesis Sterol biosynthesis
Cellular component	Endoplasmic reticulum Membrane Microsome
Coding sequence diversity	Polymorphism
Domain	Transmembrane
Ligand	Heme Iron Metal-binding NADP
Molecular function	Monooxygenase Oxidoreductase
Gene Ontology (GO)
Cellular component	endoplasmic reticulum membrane Ref.1 Inferred from Experiment. Source: Reactome
Molecular function	sterol 14-demethylase activity Ref.1 Inferred from Experiment. Source: Reactome
Complete GO annotation...

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Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 503

503

Cytochrome P450 51A1

PRO_0000051998

Regions

Transmembrane

24 – 44

Potential

Sites

Metal binding

449

Iron (heme axial ligand) By similarity

Natural variations

Natural variant

V → A: dbSNP rs2229188.

VAR_023470

Experimental info

Sequence conflict

272

R → T in AAC50951. Ref.4

Sequence conflict

368

K → R in AAC50951. Ref.4

Sequence conflict

377

I → V in AAH32322. Ref.6

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Sequences

Sequence

Length

Mass (Da)

Tools

Q16850-1 [UniParc].

Last modified December 15, 1998. Version 3.
Checksum: 4FCEC147FB4DED86
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FASTA

503

56,806

        10         20         30         40         50         60 
MLLLGLLQAG GSVLGQAMEK VTGGNLLSML LIACAFTLSL VYLIRLAAGH LVQLPAGVKS 

        70         80         90        100        110        120 
PPYIFSPIPF LGHAIAFGKS PIEFLENAYE KYGPVFSFTM VGKTFTYLLG SDAAALLFNS 

       130        140        150        160        170        180 
KNEDLNAEDV YSRLTTPVFG KGVAYDVPNP VFLEQKKMLK SGLNIAHFKQ HVSIIEKETK 

       190        200        210        220        230        240 
EYFESWGESG EKNVFEALSE LIILTASHCL HGKEIRSQLN EKVAQLYADL DGGFSHAAWL 

       250        260        270        280        290        300 
LPGWLPLPSF RRRDRAHREI KDIFYKAIQK RRQSQEKIDD ILQTLLDATY KDGRPLTDDE 

       310        320        330        340        350        360 
VAGMLIGLLL AGQHTSSTTS AWMGFFLARD KTLQKKCYLE QKTVCGENLP PLTYDQLKDL 

       370        380        390        400        410        420 
NLLDRCIKET LRLRPPIMIM MRMARTPQTV AGYTIPPGHQ VCVSPTVNQR LKDSWVERLD 

       430        440        450        460        470        480 
FNPDRYLQDN PASGEKFAYV PFGAGRHRCI GENFAYVQIK TIWSTMLRLY EFDLIDGYFP 

       490        500 
TVNYTTMIHT PENPVIRYKR RSK

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References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The ubiquitously expressed human CYP51 encodes lanosterol 14 alpha-demethylase, a cytochrome P450 whose expression is regulated by oxysterols." Stroemstedt M., Rozman D., Waterman M.R. Arch. Biochem. Biophys. 329:73-81(1996) [PubMed: 8619637] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Liver.
[2]	*"Sterol 14-demethylase P450 (P45014DM) is one of the most ancient and conserved P450 species."** Aoyama Y., Noshiro M., Gotoh O., Imaoka S., Funae Y., Kurosawa N., Horiuchi T., Yoshida Y. J. Biochem. 119:926-933(1996) [PubMed: 8797093] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Liver.
[3]	"The three human cytochrome P450 lanosterol 14 alpha-demethylase (CYP51) genes reside on chromosomes 3, 7, and 13: structure of the two retrotransposed pseudogenes, association with a line-1 element, and evolution of the human CYP51 family." Rozman D., Stroemstedt M., Waterman M.R. Arch. Biochem. Biophys. 333:466-474(1996) [PubMed: 8809088] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. Tissue: Liver.
[4]	"Structure and mapping of the human lanosterol 14alpha-demethylase gene (CYP51) encoding the cytochrome P450 involved in cholesterol biosynthesis; comparison of exon/intron organization with other mammalian and fungal CYP genes." Rozman D., Stroemstedt M., Tsui L.-C., Scherer S.W., Waterman M.R. Genomics 38:371-381(1996) [PubMed: 8975714] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[5]	"The DNA sequence of human chromosome 7." Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. Wilson R.K. Nature 424:157-164(2003) [PubMed: 12853948] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"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.
+	Additional computationally mapped references.

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Cross-references

Sequence databases
	U23942 mRNA. Translation: AAB39951.1. Different initiation. D55653 mRNA. Translation: BAA09512.1. Different initiation. U51692 U51691 Genomic DNA. Translation: AAC50951.1. AC000120 Genomic DNA. Translation: AAB46356.1. Different initiation. BC032322 mRNA. Translation: AAH32322.1. Different initiation.
PIR	JC4759. S68855.
RefSeq	NP_000777.1.
UniGene	Hs.417077
3D structure databases
HSSP	HSSP built from PDB template 1E9X based on UniProtKB P77901.
ModBase	Search...
Genome annotation databases
Ensembl	ENSG00000001630. Homo sapiens. [Contig view]
GeneID	1595.
KEGG	hsa:1595.
Organism-specific databases
H-InvDB	HIX0021935.
HGNC	HGNC:2649. CYP51A1.
MIM	601637. gene.
PharmGKB	PA27123.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOGENOM	Q16850.
HOVERGEN	Q16850.
Enzyme and pathway databases
BioCyc	MetaCyc:ENSG00000001630-MON.
Reactome	REACT_602. Lipid and lipoprotein metabolism.
Gene expression databases
ArrayExpress	Q16850.
CleanEx	HS_CYP51A1.
GermOnline	ENSG00000001630. Homo sapiens.
Family and domain databases
InterPro	IPR001128. Cyt_P450. 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]
BLOCKS	Search...
ProtoNet	Search...
Other Resources
DrugBank	DB00196. Fluconazole. DB01167. Itraconazole. DB01026. Ketoconazole. DB01110. Miconazole. DB00251. Terconazole.
NextBio	6556.
SOURCE	Search...

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Entry information

Entry name

CP51A_HUMAN

Accession

Primary (citable) accession number: Q16850
Secondary accession number(s): O00770

Q99868

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	December 15, 1998
Last modified:	November 4, 2008
This is version 78 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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