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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CYP51A1 Gene

protein-coding GIFtS: 60
GCID: GC07M091741

cytochrome P450, family 51, subfamily A, polypeptide 1

(Previous names: cytochrome P450, 51 (lanosterol 14-alpha-demethylase) )
(Previous symbol: CYP51)

Explore 11 diseases affiliated with
CYP51A1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Cytochrome P450, Family 51, Subfamily A, Polypeptide 1¹ ²		Cytochrome P450-14DM² ³
CYP51¹ ² ³ ⁵		Cytochrome P45014DM² ³
LDM¹ ² ³		Cytochrome P450LI² ³
CP51¹ ²		Sterol 14-Alpha Demethylase² ³
CYPL1¹ ²		CYPLI² ³
P450-14DM¹ ²		EC 1.14.13.70³ ⁸
P450L1¹ ²		Lanosterol 14-Alpha Demethylase²
Cytochrome P450, 51 (Lanosterol 14-Alpha-Demethylase)¹ ²		Lanosterol 14-Alpha-Demethylase²
Cytochrome P450 51A1² ³

External Ids:	HGNC: 2649¹	Entrez Gene: 1595²	Ensembl: ENSG00000001630⁷	OMIM: 601637⁵	UniProtKB: Q16850³

Export aliases for CYP51A1 gene to outside databases

Previous GC identifers: GC07M090277 GC07M091339 GC07M091354 GC07M091355 GC07M091387 GC07M091579 GC07M086348

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CYP51A1:

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are

monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and

other lipids. This endoplasmic reticulum protein participates in the synthesis of cholesterol by catalyzing the

removal of the 14alpha-methyl group from lanosterol. Homologous genes are found in all three eukaryotic phyla, fungi,

plants, and animals, suggesting that this is one of the oldest cytochrome P450 genes. Two transcript variants encoding

different isoforms have been found for this gene. (provided by RefSeq, Mar 2009)

UniProtKB/Swiss-Prot: CP51A_HUMAN, Q16850

Function: Catalyzes C14-demethylation of lanosterol; it transforms lanosterol into 4,4'-dimethyl

cholesta-8,14,24-triene-3-beta-ol

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000007.13 NC_018918.1 NT_007933.15 NT_079595.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CYP51A1 gene promoter:
MEF-2 Meis-1b GATA-1 MEF-2A Ik-2 POU2F1 POU2F1a Meis-1a aMEF-2 Meis-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): CYP51A1 promoter sequence

Search SABiosciences Chromatin IP Primers for CYP51A1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CYP51A1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q21.2 Ensembl cytogenetic band: 7q21.2 HGNC cytogenetic band: 7q21.2

CYP51A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYP51A1 gene location

GeneLoc information about chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07M091741: view genomic region (about GC identifiers)

Start:	91,741,463 bp from pter	End:	91,772,266 bp from pter
Size:	30,804 bases	Orientation:	minus strand

1 alternative location:

Chr7-,CRA_TCAG 91,070,701-91,093,297

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CP51A_HUMAN, Q16850 (See protein sequence)

Recommended Name: Lanosterol 14-alpha demethylase

Size: 503 amino acids; 56806 Da

Cofactor: Heme group (By similarity)

Subcellular location: Endoplasmic reticulum membrane (Potential). Microsome membrane (Potential)

Sequence caution: Sequence=AAB39951.1; Type=Erroneous initiation; Sequence=AAB46356.1; Type=Erroneous initiation;

Sequence=AAH32322.1; Type=Erroneous initiation; Sequence=BAA09512.1; Type=Erroneous initiation; Sequence=BAG36881.1;

Type=Erroneous initiation; Sequence=EAL24154.1; Type=Erroneous initiation; Sequence=EAW76858.1; Type=Erroneous

initiation;

3 PDB 3D structures from and Proteopedia for CYP51A1:

3JUS (3D)

3JUV (3D)

3LD6 (3D)

Secondary accessions: A4D1F8 B2RAI4 B4DJ55 O00770 O00772 Q16784 Q8N1A8 Q99868

Alternative splicing: 2 isoforms: Q16850-1 Q16850-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CYP51A1: NX_Q16850

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q16850

4/10 DME Specific Peptides for CYP51A1 (Q16850) (see all 10)

LTTPVFG

VFLEQKK

TPVFGKGV

PFGAGRHRC

CYP51A1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_000777.1 NP_001139624.1

ENSEMBL proteins:

ENSP00000003100 ENSP00000406757 ENSP00000394268 ENSP00000412536

Reactome Protein details: Q16850
Human Recombinant Protein Products for CYP51A1:

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	Uscn Proteins for CYP51A1

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005789	endoplasmic reticulum membrane	TAS	--
GO:0005792	microsome	--	--
GO:0016021	integral to membrane	IEA	--

CYP51A1 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for CYP51A1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CYP51A1 for domains About GeneDecksing

3 InterPro domains/families:

IPR001128 Cyt_P450

IPR017972 Cyt_P450_CS

IPR002403 Cyt_P450_E_grp-IV

Graphical View of Domain Structure for InterPro Entry Q16850

ProtoNet protein and cluster: Q16850

2 Blocks protein families:

IPB001254 Serine protease

IPB002403 E-class P450 group IV signature

UniProtKB/Swiss-Prot: CP51A_HUMAN, Q16850

Similarity: Belongs to the cytochrome P450 family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: CP51A_HUMAN, Q16850

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

Enzyme Number (IUBMB): EC 1.14.13.70¹ ²

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005506	iron ion binding	IEA	--
GO:0008398	sterol 14-demethylase activity	IEA	--
GO:0009055	electron carrier activity	IEA	--
GO:0020037	heme binding	IEA	--

CYP51A1 for ontologies About GeneDecksing

Phenotypes:
10 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Cyp51):

cardiovascular system	craniofacial	digestive/alimentary	homeostasis/metabolism	immune system
limbs/digits/tail	mortality/aging	muscle	no phenotypic analysis	skeleton

CYP51A1 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Cyp51^tm1.1Bfro for CYP51A1

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CYP51A1

miRNA Products:		miRTarBase miRNAs that target CYP51A1: hsa-mir-155 (MIRT001555)

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		hsa-miR-1298 hsa-miR-502-5p hsa-miR-651 hsa-miR-590-3p hsa-miR-380
		SwitchGear 3'UTR luciferase reporter plasmid: CYP51A1 3' UTR sequence

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP51A1

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

cholesterol biosynthesis III (via desmosterol)

cholesterol biosynthesis III (via desmosterol)	1.00	Steroid biosynthesis	0.60
cholesterol biosynthesis I	1.00	zymosterol biosynthesis	0.46
cholesterol biosynthesis II (via 24,25-dihydrolanosterol)	1.00

Regulation of Cholesterol Biosynthesis by SREBP (SREBF)

	Regulation of Cholesterol Biosynthesis by SREBP (SREBF)	1.00			SREBP signalling	0.46
	Activation of Gene Expression by SREBP (SREBF)	0.67

Cytochrome P450 - arranged by substrate type

	Cytochrome P450 - arranged by substrate type	1.00			cytochrome P450	0.73
	Phase 1 - Functionalization of compounds	0.74

Metabolism

	Metabolism	1.00			Metabolism of lipids and lipoproteins	0.34
	Metabolic pathways	0.38

Cholesterol biosynthesis

	Cholesterol biosynthesis	1.00			Cholesterol Biosynthesis	0.68
	superpathway of cholesterol biosynthesis	0.81

Pathway sources
See GeneCards unified pathways
Show all pathways

5/9 BioSystems Pathways for CYP51A1 (see all 9)

	Cholesterol Biosynthesis
	SREBP signalling
	cytochrome P450
	zymosterol biosynthesis
	metapathway biotransformation

5/10 Reactome Pathways for CYP51A1 (see all 10)

	Cytochrome P450 - arranged by substrate type
	Metabolism
	Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
	Endogenous sterols
	Expression of Lanosterol Demethylase (CYP51A1)

2 Kegg Pathways (Kegg details for CYP51A1):

	Steroid biosynthesis
	Metabolic pathways

UniProtKB/Swiss-Prot: CP51A_HUMAN, Q16850

Pathway: Steroid biosynthesis; zymosterol biosynthesis; zymosterol from lanosterol: step 1/6

CYP51A1 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for CYP51A1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/107 Interacting proteins for CYP51A1 (Q16850³ ENSP00000003100⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 107)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
FA2H	Q7L5A8³, ENSP00000219368⁴	I2D: score=4 STRING: ENSP00000219368
MSMO1	Q15800³, ENSP00000261507⁴	I2D: score=4 STRING: ENSP00000261507
SCD	O00767³, ENSP00000359380⁴	I2D: score=4 STRING: ENSP00000359380
ZMPSTE24	O75844³, ENSP00000361845⁴	I2D: score=4 STRING: ENSP00000361845
FDFT1	P37268³, ENSP00000220584⁴	I2D: score=2 STRING: ENSP00000220584

About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006695	cholesterol biosynthetic process	TAS	--
GO:0006805	xenobiotic metabolic process	TAS	--
GO:0033488	cholesterol biosynthetic process via 24,25-dihydrolanosterol	IEA	--
GO:0044281	small molecule metabolic process	TAS	--

CYP51A1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CYP51A1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CYP51A1

10 HMDB Compounds for CYP51A1 About this table

Compound	Synonyms	CAS #	PubMed Ids
4,4-Dimethylcholesta-8,14,24-trienol	(3beta,5alpha)-4,4-Dimethylcholesta-8,14,24-trien-3-ol (see all 11)	64284-64-6	--
Delta 8,14 -Sterol	4alpha-Methyl-5alpha-ergosta-8,14,24(28)-trien-3beta-ol (see all 5)	74635-33-9	--
Formic acid	Add-F (see all 21)	64-18-6	--
Heme	(protoporphyrinato)iron (see all 19)	14875-96-8	--
Lanosterin	(3 beta)-Lanosta-8,24-dien-3-ol (see all 12)	79-63-0	--
NADP	Adenine-nicotinamide dinucleotide phosphate (see all 18)	53-59-8	--
NADPH	2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)	53-57-6	--
Obtusifoliol	4,4-dimethyl-14alpha-hydroxymethyl-5alpha-cholesta-8,24-dien-3beta-ol (see all 2)	--	--
Oxygen	Oxygen (see all 5)	7782-44-7	--
Water	Dihydrogen oxide (see all 2)	7732-18-5	--

5 DrugBank Compounds for CYP51A1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Tioconazole	Tioconazol [INN-Spanish] (see all 2)	65899-73-2	target	inhibitor	17139284 17016423 15625110 10592235
Itraconazole	ITC (see all 5)	84625-61-6	target	inhibitor	11752352 16964330 10608831
1-[(2S)-2-[(4-CHLOROBENZYL)OXY]-2-(2,4-DICHLOROPHENYL)ETHYL]-1H-IMIDAZOLE	--	--	target	--	10592235
Ketoconazole	2% (see all 6)	65277-42-1	enzyme	inhibitor	19934256
Sertaconazole	Sertaconazol [Spanish] (see all 2)	99592-32-2	enzyme	inhibitor	19934256

10/33 Novoseek chemical compound relationships for CYP51A1 gene (see all 33) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
lanosterol	96.7	109	14599667 (3), 15276168 (3), 16755030 (2), 9559662 (2) (see all 51)
24,25-dihydrolanosterol	92.1	2	20037138 (1), 16000773 (1)
sterol	88.8	146	12611652 (5), 16321980 (4), 9559662 (3), 12145339 (3) (see all 51)
obtusifoliol	87.2	14	15311940 (3), 9559662 (2), 16543605 (1)
azalanstat	84.9	2	7646560 (1), 16650467 (1)
pyrrole	82.2	37	9527767 (4), 15944416 (4), 20507496 (2), 15311940 (2) (see all 18)
sch39304	81.2	2	9210667 (1), 10731517 (1)
prochloraz	80.3	5	11267777 (2), 11055899 (2)
fluconazole	79.8	20	9061581 (2), 15314102 (2), 16079485 (1), 7492098 (1) (see all 13)
ergosterol	79.8	14	12627386 (1), 16961575 (1), 9210667 (1), 9468503 (1) (see all 11)

Search CenterWatch for drugs/clinical trials and news about CYP51A1 / CP51A

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CYP51A1 gene (2 alternative transcripts):

NM_000786.3 NM_001146152.1

Unigene Cluster for CYP51A1:

Cytochrome P450, family 51, subfamily A, polypeptide 1

Hs.417077 [show with all ESTs]

Unigene Representative Sequence: NM_000786

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000003100(uc003ulm.4 uc011khn.2) ENST00000450723 ENST00000422867

ENST00000482924 ENST00000435873

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Additional cDNA sequence:

AK295932.1 AK314205.1 BC018429.1 BC032322.1 D55653.1 U23942.1

21 DOTS entries:

DT.95107368 DT.95097971 DT.100001389 DT.91755131 DT.121112404 DT.97807487 DT.100816642 DT.120773790

DT.100816639 DT.416930 DT.75145907 DT.91755129 DT.95097963 DT.95097964 DT.95097966 DT.95317210

DT.121112427 DT.121112433 DT.95097730 DT.95354754 DT.97845296

24/246 AceView cDNA sequences (see all 246):

BX342319 BG562881 BQ029154 AA828679 AA452440 CD358611 AU129401 AA477781

BX280377 AA399409 AL041624 AI217668 BM969614 AA360331 W74235 AA864975

BM792592 CB993503 BU167401 BM475969 BP362510 BG054754 BU784287 BM126447

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for CYP51A1 About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8a	·	8b	^	9	^	10a	·	10b	^	11	^	12a	·	12b	·	12c
SP1:																					-
SP2:			-
SP3:
SP4:

ECgene alternative splicing isoforms for CYP51A1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CYP51A1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTAAACTCTA

About this image

CYP51A1 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Reproductive System

Mesonephros

Reproductive System

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

PureStem™ progenitor SK17 (Embryonic Progenitor Cell)

PureStem™ progenitor T36 (Embryonic Progenitor Cell)

See CYP51A1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CYP51A1

SOURCE GeneReport for Unigene cluster: Hs.417077

UniProtKB/Swiss-Prot: CP51A_HUMAN, Q16850

Tissue specificity: Ubiquitously expressed with highest levels in testis, ovary, adrenal, prostate, liver, kidney and

lung

SABiosciences Expression via Pathway-Focused PCR Array including CYP51A1:

Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of eukaryotes.

Orthologs for CYP51A1 gene from 7/25 species (see all 25) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	CYP51A1¹	cytochrome P450, family 51, subfamily A, polypeptide more	77.83(n) 87.33(a)		420548 NM_001048077.1 NP_001041542.1
lizard (Anolis carolinensis)	Reptilia	CYP51A1⁶	--	80(a)	1 ↔ 1	6(21085820-21100233)
African clawed frog (Xenopus laevis)	Amphibia	Xl.25369²	Xenopus laevis transcribed sequence with moderate similarity more	74.86(n)		BX846642.1
zebrafish (Danio rerio)	Actinopterygii	wufb66a09²	wufb66a09	72.31(n)		322573 CK027793.1
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	ERG11(YHR007C)⁴ ERG11¹	Lanosterol 14-alpha-demethylase; catalyzes the C-14 more⁴ Erg11p¹	48.56(n)¹ 39.09(a)¹		8(121683-120091)⁴ 856398^{1, 4} NP_011871.1^{1, 4}
thale cress (Arabidopsis thaliana)	eudicotyledons	CYP51G1¹	cytochrome P450, family 51 (sterol 14-demethylase)	48.16(n) 39.74(a)		837712 NM_101040.3 NP_172633.1
rice (Oryza sativa)	Liliopsida	Os11g0525200¹	hypothetical protein	46.55(n) 38.13(a)		4350614 NM_001074523.1 NP_001067991.1

ENSEMBL Gene Tree for CYP51A1 (if available)
TreeFam Gene Tree for CYP51A1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for CYP51A1 gene

CYP26A1² CYP26B1² CYP26C1²

CYP51A1 for paralogs About GeneDecksing

3 Pseudogenes.org Pseudogenes for CYP51A1
PGOHUM00000248345 PGOHUM00000237670 PGOHUM00000243811

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs115141387^1,2	C,F	--	91071937(+)	`TATTTA/GGAATC`	2	--	ut3¹		1		WA	118
rs7798757^1,2	C,F,H	--	91072923(+)	`ggaaaA/Tagaac`	2	--	int¹ trp³		7		NS EA WA	536
rs73407544^1,2	C,F	--	91074379(+)	`AAACAT/CAGAAT`	2	--	int¹		3		WA	122
rs11765955^1,2	H	--	91074840(+)	`ATGATA/TCTTTT`	2	--	int¹		0	--	--	--	--
rs35121455^1,2	C,F	--	91074918(+)	`ACTTTA/GTATTT`	2	--	int¹		4		NA	186
rs73407547^1,2	C,F	--	91076897(+)	`AGAGAT/CGAGGT`	2	--	int¹		3		WA	122
rs113969397^1,2		--	91078089(+)	`GAGATC/TTCAGT`	2	--	int¹		1		CSA	1
rs6968680^1,2	C	--	91078110(+)	`aacaaG/Tgaatg`	2	--	int¹		0	--	--	--	--
rs78795154^1,2	F	--	91078607(+)	`TTAAGA/TATACA`	2	--	int¹		1		WA	118
rs7785043^1,2	C,F	--	91078659(+)	`aaacaT/Ctgttg`	2	--	int¹		3		WA	122

HapMap Linkage Disequilibrium report for CYP51A1 (91741463 - 91772266 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CYP51A1: --

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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CYP51A1 for disorders           About GeneDecksing

OMIM gene information: 601637    OMIM disorders: --

11 diseases for CYP51A1:    About MalaCards

antley-bixler syndrome cholesterol chagas disease candidiasis

synostosis tuberculosis colorectal cancer leukemia

immunodeficiency prostatitis mycobacterium tuberculosis

2 diseases from the University of Copenhagen DISEASES database for CYP51A1:

Antley-Bixler syndrome Chagas disease

5 Novoseek disease relationships for CYP51A1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
infection fungal	50.3	7	17194716 (1), 10398344 (1), 18694951 (1), 15314102 (1)
tuberculosis	47.4	27	16819841 (2), 11373285 (2), 15611056 (2), 17630911 (2) (see all 16)
chagas disease	45.5	3	16321980 (1), 20429511 (1)
leukemia	0	2	15383319 (1), 15904877 (1)
cancer	0	3	17194716 (1), 20429511 (1)

Human Genome Epidemiology (HuGE) Navigator: CYP51A1 (3 documents)

Export disorders for CYP51A1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for CYP51A1 gene, integrated from 9 sources (see all 168):
(articles sorted by number of sources associating them with CYP51A1)

Utopia: connect your pdf to the dynamic
world of online information

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. (PubMed id 8975714)^{1, 2, 3, 9} Rozman D.... Waterman M.R. (1996)
The ubiquitously expressed human CYP51 encodes lanosterol 14 alpha- demethylase, a cytochrome P450 whose expression is regulated by oxysterols. (PubMed id 8619637)^{1, 2, 9} Stroemstedt M.... Waterman M.R. (1996)
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. (PubMed id 8809088)^{1, 2, 9} Rozman D.... Waterman M.R. (1996)
Sterol 14-demethylase P450 (P45014DM*) is one of the most ancient and conserved P450 species. (PubMed id 8797093)^{1, 2, 9} Aoyama Y.... Yoshida Y. (1996)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
The DNA sequence of human chromosome 7. (PubMed id 12853948)^{1, 2} Hillier L.W.... Wilson R.K. (2003)
Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)^{1, 2} Scherer S.W.... Tsui L.-C. (2003)
Structural basis of human CYP51 inhibition by antifun gal azoles. (PubMed id 20149798)^{1, 9} Strushkevich N....Park H.W. (2010)
A cAMP-responsive element binding site is essential for sterol regulation of the human lanosterol 14alpha-demethylase gene (CYP51). (PubMed id 12145339)^{1, 9} Halder S.K....Rozman D. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 1595	HGNC: 2649	AceView: CYP51A1	Ensembl:ENSG00000001630	euGenes: HUgn1595
ECgene: CYP51A1	Kegg: 1595	H-InvDB: CYP51A1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for CYP51A1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for CYP51A1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for CYP51A1 gene:
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CYP51A1 Gene

cytochrome P450, family 51, subfamily A, polypeptide 1

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CYP51A1 Gene

cytochrome P450, family 51, subfamily A, polypeptide 1

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