Seroatlas · Human Serome Atlas

CTPS1

CTP synthase 1

Also known as: CTPS, GATD5A, PYRG1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
P17812
Gene
CTPS1
Ensembl
ENSG00000171793
Chromosome
1
Canonical length
591 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Actin filaments,Cytosol
Quaternary structure
Homotetramer

OverviewNCBI Gene

This gene encodes an enzyme responsible for the catalytic conversion of UTP (uridine triphosphate) to CTP (cytidine triphospate). This reaction is an important step in the biosynthesis of phospholipids and nucleic acids. Activity of this proten is important in the immune system, and loss of function of this gene has been associated with immunodeficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

Canonical amino-acid sequenceUniProt

591 residues, UniProt reviewed canonical sequence.

>P17812|CTPS1
     1  MKYILVTGGV ISGIGKGIIA SSVGTILKSC GLHVTSIKID PYINIDAGTF SPYEHGEVFV
    61  LDDGGEVDLD LGNYERFLDI RLTKDNNLTT GKIYQYVINK ERKGDYLGKT VQVVPHITDA
   121  IQEWVMRQAL IPVDEDGLEP QVCVIELGGT VGDIESMPFI EAFRQFQFKV KRENFCNIHV
   181  SLVPQPSSTG EQKTKPTQNS VRELRGLGLS PDLVVCRCSN PLDTSVKEKI SMFCHVEPEQ
   241  VICVHDVSSI YRVPLLLEEQ GVVDYFLRRL DLPIERQPRK MLMKWKEMAD RYDRLLETCS
   301  IALVGKYTKF SDSYASVIKA LEHSALAINH KLEIKYIDSA DLEPITSQEE PVRYHEAWQK
   361  LCSAHGVLVP GGFGVRGTEG KIQAIAWARN QKKPFLGVCL GMQLAVVEFS RNVLGWQDAN
   421  STEFDPTTSH PVVVDMPEHN PGQMGGTMRL GKRRTLFQTK NSVMRKLYGD ADYLEERHRH
   481  RFEVNPVWKK CLEEQGLKFV GQDVEGERME IVELEDHPFF VGVQYHPEFL SRPIKPSPPY
   541  FGLLLASVGR LSHYLQKGCR LSPRDTYSDR SGSSSPDSEI TELKFPSINH D

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CTPS1 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
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.23
Highest tissue expression
69 nTPM

Expression across tissuesHPA

Tissue

  • liver: 69 nTPM
  • smooth muscle: 50 nTPM
  • salivary gland: 48 nTPM
  • parathyroid gland: 46 nTPM
  • blood vessel: 39 nTPM
  • colon: 30 nTPM

Single-cell type

  • smooth muscle cells: 94 nCPM
  • hepatocytes: 92 nCPM
  • salivary acinar cells: 80 nCPM
  • differentiating spermatogonia: 71 nCPM
  • enterocytes: 56 nCPM
  • salivary myoepithelial cells: 56 nCPM

Immune cell

  • plasmacytoid DC: 12 nTPM
  • myeloid DC: 11 nTPM
  • NK-cell: 7 nTPM
  • intermediate monocyte: 6.7 nTPM
  • T-reg: 6.5 nTPM
  • naive CD8 T-cell: 6 nTPM

Brain region

  • choroid plexus: 17 nTPM
  • cerebral cortex: 11 nTPM
  • white matter: 11 nTPM
  • pons: 10 nTPM
  • hypothalamus: 9.7 nTPM
  • thalamus: 9 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CTPS1.

Disease | AllUniProt

Conditions CTPS1 is implicated in, by any mechanism.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 349 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.29
gnomAD pLI
0.99
gnomAD missense Z
3.69
DepMap mean gene effect
-0.66
DepMap dependency class
common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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 CTPS1 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 CTPS1 as an antibody target. Whether an autoantibody or antibody against CTPS1 could matter depends on whether native CTPS1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CTPS1 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 CTPS1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CTPS1. 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).

© 2026 · Seroatlas, Discover Oregon LLC · Terms of use

Loading the interactive Seroatlas protein explorer...