Seroatlas · Human Serome Atlas

CYP51A1

Lanosterol 14-alpha demethylase

Also known as: CP51, CP51A_HUMAN, CYP51, CYPL1, LDM, P450-14DM, P450L1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q16850
Gene: CYP51A1
Ensembl: ENSG00000001630
Chromosome: 7
Canonical length: 509 aa
Protein class: Enzymes, FDA approved drug targets, Metabolic proteins, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Endoplasmic reticulum

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

509 residues, UniProt reviewed canonical sequence.

>Q16850|CYP51A1
     1  MAAAAGMLLL GLLQAGGSVL GQAMEKVTGG NLLSMLLIAC AFTLSLVYLI RLAAGHLVQL
    61  PAGVKSPPYI FSPIPFLGHA IAFGKSPIEF LENAYEKYGP VFSFTMVGKT FTYLLGSDAA
   121  ALLFNSKNED LNAEDVYSRL TTPVFGKGVA YDVPNPVFLE QKKMLKSGLN IAHFKQHVSI
   181  IEKETKEYFE SWGESGEKNV FEALSELIIL TASHCLHGKE IRSQLNEKVA QLYADLDGGF
   241  SHAAWLLPGW LPLPSFRRRD RAHREIKDIF YKAIQKRRQS QEKIDDILQT LLDATYKDGR
   301  PLTDDEVAGM LIGLLLAGQH TSSTTSAWMG FFLARDKTLQ KKCYLEQKTV CGENLPPLTY
   361  DQLKDLNLLD RCIKETLRLR PPIMIMMRMA RTPQTVAGYT IPPGHQVCVS PTVNQRLKDS
   421  WVERLDFNPD RYLQDNPASG EKFAYVPFGA GRHRCIGENF AYVQIKTIWS TMLRLYEFDL
   481  IDGYFPTVNY TTMIHTPENP VIRYKRRSK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CYP51A1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Other membrane
Secreted: No
Transmembrane segments: 1
Mean surface accessibility (rSASA): 0.26
Highest tissue expression: 189 nTPM

Expression across tissuesHPA

Tissue

liver: 189 nTPM
duodenum: 81 nTPM
testis: 81 nTPM
spinal cord: 76 nTPM
adrenal gland: 54 nTPM
cerebral cortex: 53 nTPM

Single-cell type

cardiomyocytes: 323 nCPM
epicardial cells: 282 nCPM
early spermatids: 160 nCPM
late spermatids: 143 nCPM
myonuclei: 80 nCPM
adipocytes: 63 nCPM

Immune cell

intermediate monocyte: 17 nTPM
myeloid DC: 17 nTPM
memory B-cell: 16 nTPM
plasmacytoid DC: 14 nTPM
naive B-cell: 13 nTPM
gdT-cell: 12 nTPM

Brain region

medulla oblongata: 138 nTPM
white matter: 127 nTPM
pons: 115 nTPM
spinal cord: 107 nTPM
midbrain: 99 nTPM
cerebellum: 92 nTPM

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.01
gnomAD pLI: 0
gnomAD missense Z: 0.79
DepMap mean gene effect: -0.03
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

cholesterol biosynthetic process
negative regulation of amyloid-beta clearance
negative regulation of protein catabolic process
negative regulation of protein secretion
steroid biosynthetic process
sterol metabolic process
cholesterol biosynthetic process via 24,25-dihydrolanosterol

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CYP51A1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

PGRMC1

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CYP51A1 as an antibody target. Whether an autoantibody or antibody against CYP51A1 could matter depends on whether native CYP51A1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CYP51A1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label CYP51A1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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