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CYP51A1

GENERAL INFORMATION

Gene name

 CYP51A1

Gene description

 Cytochrome P450, family 51, subfamily A, polypeptide 1

Protein class

 Enzymes
FDA approved drug targets
Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

 Intracellular,Membrane

Number of transcripts

 4
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in Leydig cells.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly not consistent with RNA expression data. Caution, Splice and/or transcript discrepancy exists.

Reliability score

 Approved based on 2 antibodies.
HPA041325 , HPA043508
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical
Cerebral cortexHippocampusCaudateCerebellumThyroid glandParathyroid glandAdrenal glandAppendixBone marrowLymph nodeTonsilSpleenHeart muscleSkeletal muscleSmooth muscleNasopharynxBronchusLungLiverGallbladderPancreasOral mucosaSalivary glandEsophagusStomachDuodenumSmall intestineColonRectumKidneyUrinary bladderTestisEpididymisProstateSeminal vesicleBreastVaginaCervix, uterineEndometriumFallopian tubeOvaryPlacentaAdipose tissueSoft tissueSkinNotdetectedLowMediumHighSCORE

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
Cerebral cortexThyroid glandParathyroid glandAdrenal glandAppendixBone marrowLymph nodeTonsilSpleenHeart muscleSkeletal muscleSmooth muscleLungLiverGallbladderPancreasSalivary glandEsophagusStomachDuodenumSmall intestineColonRectumKidneyUrinary bladderTestisEpididymisProstateSeminal vesicleBreastCervix, uterineEndometriumFallopian tubeOvaryPlacentaAdipose tissueSkin050100150200TPM
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
HypothalamusPituitary glandCerebral cortexHippocampusCaudateCerebellumThyroid glandAdrenal glandSpleenHeart muscleSkeletal muscleLungLiverPancreasSalivary glandEsophagusStomachSmall intestineColonKidneyUrinary bladderTestisProstateBreastVaginaCervix, uterineEndometriumFallopian tubeOvaryAdipose tissueSkin05101520RPKM
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
Pituitary glandBrainHippocampusCaudateCerebellumThyroid glandAppendixLymph nodeTonsilSpleenHeart muscleSkeletal muscleSmooth muscleLungLiverGallbladderPancreasSalivary glandEsophagusSmall intestineColonKidneyUrinary bladderTestisEpididymisProstateSeminal vesicleBreastVaginaCervix, uterineEndometriumOvaryPlacentaAdipose tissueRetina050100150200Tags Per Million

GENE INFORMATION

Gene name

 CYP51A1 (HGNC Symbol)

Synonyms

 CP51, CYP51, CYPL1, LDM, P450-14DM, P450L1

Description

 Cytochrome P450, family 51, subfamily A, polypeptide 1 (HGNC Symbol)

Entrez gene summary

 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]

Chromosome

 7

Cytoband

 q21.2

Chromosome location (bp)

 92112151 - 92142952

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000001630 (version 83.38)

Entrez gene

 1595

UniProt

 Q16850 (UniProt - Evidence at protein level)

neXtProt

 NX_Q16850

Antibodypedia

 CYP51A1 antibodies

PROTEIN BROWSER
CYP51A1-001
CYP51A1-002
CYP51A1-005
CYP51A1-006

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
CYP51A1-001
ENSP00000003100
ENST00000003100
A0A0C4DFL7 [Direct mapping]
Lanosterol 14-alpha demethylase
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Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005506 [iron ion binding]
GO:0008398 [sterol 14-demethylase activity]
GO:0016021 [integral component of membrane]
GO:0016705 [oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen]
GO:0020037 [heme binding]
GO:0033488 [cholesterol biosynthetic process via 24,25-dihydrolanosterol]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0055114 [oxidation-reduction process]
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 509 aa
57.3 kDa 		Yes 1
CYP51A1-002
ENSP00000406757
ENST00000450723
Q16850 [Direct mapping]
Lanosterol 14-alpha demethylase
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Enzymes
   ENZYME proteins
   Oxidoreductases
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
FDA approved drug targets
   Small molecule drugs
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005506 [iron ion binding]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0006694 [steroid biosynthetic process]
GO:0006695 [cholesterol biosynthetic process]
GO:0006805 [xenobiotic metabolic process]
GO:0008398 [sterol 14-demethylase activity]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016125 [sterol metabolic process]
GO:0016705 [oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen]
GO:0020037 [heme binding]
GO:0044281 [small molecule metabolic process]
GO:0055114 [oxidation-reduction process]
GO:0070988 [demethylation]
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 404 aa
46.3 kDa 		No 0
CYP51A1-005
ENSP00000412536
ENST00000435873
C9IYR8 [Direct mapping]
Lanosterol 14-alpha demethylase
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 30 aa
3.4 kDa 		No 0
CYP51A1-006
ENSP00000394268
ENST00000422867
H7C0D0 [Direct mapping]
Lanosterol 14-alpha demethylase
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   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004497 [monooxygenase activity]
GO:0005506 [iron ion binding]
GO:0016705 [oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen]
GO:0020037 [heme binding]
GO:0055114 [oxidation-reduction process]
Show all
 222 aa
25.5 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.