Seroatlas · Human Serome Atlas

PCYT1A

Choline-phosphate cytidylyltransferase A

Also known as: CCTalpha, CT, CTPCT, PCY1A_HUMAN, PCYT1

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

Protein identityUniProt · HPA

UniProt accession
P49585
Gene
PCYT1A
Ensembl
ENSG00000161217
Chromosome
3
Canonical length
367 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Cytosol
Quaternary structure
Homodimer

OverviewNCBI Gene

This gene belongs to the cytidylyltransferase family and is involved in the regulation of phosphatidylcholine biosynthesis. Mutations in this gene are associated with spondylometaphyseal dysplasia with cone-rod dystrophy. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]

Canonical amino-acid sequenceUniProt

367 residues, UniProt reviewed canonical sequence.

>P49585|PCYT1A
     1  MDAQCSAKVN ARKRRKEAPG PNGATEEDGV PSKVQRCAVG LRQPAPFSDE IEVDFSKPYV
    61  RVTMEEASRG TPCERPVRVY ADGIFDLFHS GHARALMQAK NLFPNTYLIV GVCSDELTHN
   121  FKGFTVMNEN ERYDAVQHCR YVDEVVRNAP WTLTPEFLAE HRIDFVAHDD IPYSSAGSDD
   181  VYKHIKEAGM FAPTQRTEGI STSDIITRIV RDYDVYARRN LQRGYTAKEL NVSFINEKKY
   241  HLQERVDKVK KKVKDVEEKS KEFVQKVEEK SIDLIQKWEE KSREFIGSFL EMFGPEGALK
   301  HMLKEGKGRM LQAISPKQSP SSSPTRERSP SPSFRWPFSG KTSPPCSPAN LSRHKAAAYD
   361  ISEDEED

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PCYT1A 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
0
Mean surface accessibility (rSASA)
0.46
Highest tissue expression
69 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 69 nTPM
  • duodenum: 57 nTPM
  • small intestine: 46 nTPM
  • heart muscle: 44 nTPM
  • bone marrow: 43 nTPM
  • skin: 41 nTPM

Single-cell type

  • neutrophils: 197 nCPM
  • late spermatids: 91 nCPM
  • neutrophil progenitors: 90 nCPM
  • esophageal apical cells: 89 nCPM
  • esophageal suprabasal cells: 85 nCPM
  • late primary spermatocytes: 82 nCPM

Immune cell

  • neutrophil: 21 nTPM
  • T-reg: 15 nTPM
  • non-classical monocyte: 11 nTPM
  • eosinophil: 10 nTPM
  • basophil: 9.7 nTPM
  • memory CD8 T-cell: 9.7 nTPM

Brain region

  • hypothalamus: 51 nTPM
  • medulla oblongata: 49 nTPM
  • thalamus: 47 nTPM
  • midbrain: 46 nTPM
  • pons: 45 nTPM
  • spinal cord: 45 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PCYT1A.

Disease | AllUniProt

Conditions PCYT1A is implicated in, by any mechanism.

  • Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) MIM:608940
  • Lipodystrophy, congenital generalized, 5 (CGL5) MIM:620680

Disease | GeneticClinVar

16 pathogenic / likely-pathogenic of 322 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
  • Lipodystrophy, congenital generalized, type 5
  • Inborn genetic diseases

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)
0.86
gnomAD pLI
0
gnomAD missense Z
1.64
DepMap mean gene effect
-0.82
DepMap dependency class
common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 13% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PCYT1A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PCYT1A as an antibody target. Whether an autoantibody or antibody against PCYT1A could matter depends on whether native PCYT1A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PCYT1A 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 PCYT1A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PCYT1A. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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