Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PCYT1A Gene

Aliases for PCYT1A Gene

  • Phosphate Cytidylyltransferase 1, Choline, Alpha 2 3
  • PCYT1 3 4 6
  • CTPCT 3 4 6
  • CTP:Phosphocholine Cytidylyltransferase A 3 4
  • Phosphorylcholine Transferase A 3 4
  • EC 2.7.7.15 4 63
  • CCT-Alpha 3 4
  • SMDCRD 3 6
  • CCT A 3 4
  • CT A 3 4
  • Phosphate Cytidylyltransferase 1, Choline, Alpha Isoform 2
  • Choline-Phosphate Cytidylyltransferase A 3
  • Phosphate Cytidylyltransferase 1 2
  • Alpha Isoform 2
  • EC 2.7.7 63
  • Choline 2
  • CCTA 3
  • CTA 3
  • CT 3

External Ids for PCYT1A Gene

Previous HGNC Symbols for PCYT1A Gene

  • PCYT1

Previous GeneCards Identifiers for PCYT1A Gene

  • GC03M191886
  • GC03M196194
  • GC03M197368
  • GC03M197291
  • GC03M197453
  • GC03M195941
  • GC03M193264

Summaries for PCYT1A Gene

GeneCards Summary for PCYT1A Gene

PCYT1A (Phosphate Cytidylyltransferase 1, Choline, Alpha) is a Protein Coding gene. Diseases associated with PCYT1A include spondylometaphyseal dysplasia with cone-rod dystrophy. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include protein homodimerization activity and choline-phosphate cytidylyltransferase activity. An important paralog of this gene is PCYT1B.

UniProtKB/Swiss-Prot for PCYT1A Gene

  • Controls phosphatidylcholine synthesis

Gene Wiki entry for PCYT1A Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCYT1A Gene

Genomics for PCYT1A Gene

Regulatory Elements for PCYT1A Gene

Genomic Location for PCYT1A Gene

Start:
196,214,222 bp from pter
End:
196,287,957 bp from pter
Size:
73,736 bases
Orientation:
Minus strand

Genomic View for PCYT1A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PCYT1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCYT1A Gene

Proteins for PCYT1A Gene

  • Protein details for PCYT1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49585-PCY1A_HUMAN
    Recommended name:
    Choline-phosphate cytidylyltransferase A
    Protein Accession:
    P49585
    Secondary Accessions:
    • A9LYK9
    • D3DXB1
    • Q86Y88

    Protein attributes for PCYT1A Gene

    Size:
    367 amino acids
    Molecular mass:
    41731 Da
    Quaternary structure:
    • Homodimer

neXtProt entry for PCYT1A Gene

Proteomics data for PCYT1A Gene at MOPED

Post-translational modifications for PCYT1A Gene

  • Monoubiquitinated by the SCF(FBXL2) complex, leading to proteasomal degradation.
  • The serine residues of the C-terminus are phosphorylated. The inactive soluble form is stabilized by phosphorylation, the active membrane bound form is promoted by anionic lipids or diacylglycerol, and is stabilized by dephosphorylation (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains for PCYT1A Gene

Protein Domains for PCYT1A Gene

Suggested Antigen Peptide Sequences for PCYT1A Gene

Graphical View of Domain Structure for InterPro Entry

P49585

UniProtKB/Swiss-Prot:

PCY1A_HUMAN :
  • P49585
Family:
  • Belongs to the cytidylyltransferase family.
genes like me logo Genes that share domains with PCYT1A: view

No data available for Gene Families for PCYT1A Gene

Function for PCYT1A Gene

Molecular function for PCYT1A Gene

GENATLAS Biochemistry: CTP phosphocholine cytidyltransferase,42kDa,including 2 isoforms alpha and beta,regulator of phosphatidylcholine
UniProtKB/Swiss-Prot CatalyticActivity: CTP + phosphocholine = diphosphate + CDP-choline
UniProtKB/Swiss-Prot EnzymeRegulation: By phosphorylation.
UniProtKB/Swiss-Prot Function: Controls phosphatidylcholine synthesis

Enzyme Numbers (IUBMB) for PCYT1A Gene

Gene Ontology (GO) - Molecular Function for PCYT1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004105 choline-phosphate cytidylyltransferase activity ISS --
GO:0005515 protein binding --
GO:0008289 lipid binding IEA --
GO:0042803 protein homodimerization activity IEA --
genes like me logo Genes that share ontologies with PCYT1A: view
genes like me logo Genes that share phenotypes with PCYT1A: view

Animal Models for PCYT1A Gene

MGI Knock Outs for PCYT1A:

miRNA for PCYT1A Gene

miRTarBase miRNAs that target PCYT1A

No data available for Transcription Factor Targeting and HOMER Transcription for PCYT1A Gene

Localization for PCYT1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCYT1A Gene

Cytoplasm, cytosol. Membrane; Peripheral membrane protein. Note=It can interconvert between an inactive cytosolic form and an active membrane-bound form. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PCYT1A Gene COMPARTMENTS Subcellular localization image for PCYT1A gene
Compartment Confidence
endoplasmic reticulum 4
nucleus 3
cytosol 2
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for PCYT1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005829 cytosol IEA --
GO:0042587 glycogen granule ISS --
genes like me logo Genes that share ontologies with PCYT1A: view

Pathways for PCYT1A Gene

genes like me logo Genes that share pathways with PCYT1A: view

Pathways by source for PCYT1A Gene

UniProtKB/Swiss-Prot P49585-PCY1A_HUMAN

  • Pathway: Phospholipid metabolism; phosphatidylcholine biosynthesis; phosphatidylcholine from phosphocholine: step 1/2

Gene Ontology (GO) - Biological Process for PCYT1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006644 phospholipid metabolic process TAS --
GO:0006656 phosphatidylcholine biosynthetic process TAS --
GO:0006657 CDP-choline pathway ISS --
GO:0009058 biosynthetic process --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with PCYT1A: view

Compounds for PCYT1A Gene

(1924) HMDB Compounds for PCYT1A Gene

Compound Synonyms Cas Number PubMed IDs
Choline
  • (2-Hydroxyethyl)trimethyl ammonium
62-49-7
Citicoline
  • Audes
987-78-0
Cytidine triphosphate
  • cytidine 5'-(tetrahydrogen triphosphate)
65-47-4
DG(14:0/14:0/0:0)
  • DAG(14:0/14:0)
Not Available
DG(14:0/14:1(9Z)/0:0)
  • DAG(14:0/14:1)
Not Available

(2) Drugbank Compounds for PCYT1A Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Choline
  • Bilineurine
62-49-7 target product of
Lamivudine
134678-17-4 enzyme substrate

(6) Novoseek inferred chemical compound relationships for PCYT1A Gene

Compound -log(P) Hits PubMed IDs
cdp choline 87.7 6
phosphatidylcholine 79.7 24
oleic acid 56.1 4
phospholipid 50.1 4
lipid 28.9 7
genes like me logo Genes that share compounds with PCYT1A: view

Transcripts for PCYT1A Gene

Unigene Clusters for PCYT1A Gene

Phosphate cytidylyltransferase 1, choline, alpha:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PCYT1A Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c
SP1: - - - - -
SP2: - - - -
SP3: - - -
SP4: - - -
SP5: - - - - -
SP6: -
SP7:
SP8: - - - -
SP9: -
SP10:

Relevant External Links for PCYT1A Gene

GeneLoc Exon Structure for
PCYT1A
ECgene alternative splicing isoforms for
PCYT1A

Expression for PCYT1A Gene

mRNA expression in normal human tissues for PCYT1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PCYT1A Gene

This gene is overexpressed in Whole Blood (4.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PCYT1A Gene

SOURCE GeneReport for Unigene cluster for PCYT1A Gene Hs.135997

genes like me logo Genes that share expressions with PCYT1A: view

No data available for mRNA Expression by UniProt/SwissProt for PCYT1A Gene

Orthologs for PCYT1A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PCYT1A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PCYT1A 35
  • 99.84 (n)
  • 99.51 (a)
cow
(Bos Taurus)
Mammalia PCYT1A 35
  • 91.87 (n)
  • 96.4 (a)
PCYT1A 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PCYT1A 35
  • 92.46 (n)
  • 96.46 (a)
PCYT1A 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pcyt1a 35
  • 89.74 (n)
  • 96.19 (a)
Pcyt1a 16
Pcyt1a 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PCYT1A 36
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PCYT1A 36
  • 54 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pcyt1a 35
  • 89.37 (n)
  • 96.46 (a)
chicken
(Gallus gallus)
Aves PCYT1A 35
  • 80.6 (n)
  • 89.34 (a)
PCYT1A 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PCYT1A 36
  • 88 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia pcyt1a-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia pcyt1a 35
  • 76.2 (n)
  • 85.83 (a)
Str.1627 35
zebrafish
(Danio rerio)
Actinopterygii pcyt1aa 35
  • 73.44 (n)
  • 81.04 (a)
pcyt1aa 36
  • 78 (a)
OneToMany
pcyt1ab 36
  • 75 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002263 35
  • 56.61 (n)
  • 55.93 (a)
fruit fly
(Drosophila melanogaster)
Insecta Cct1 35
  • 63.21 (n)
  • 61.92 (a)
Cct1 36
  • 34 (a)
ManyToMany
Cct2 36
  • 46 (a)
ManyToMany
Cct2 37
  • 57 (a)
Cct1 37
  • 57 (a)
worm
(Caenorhabditis elegans)
Secernentea F28A10.10 36
  • 50 (a)
ManyToMany
pcyt-1 36
  • 37 (a)
ManyToMany
Y18H1A.11 35
  • 54 (n)
  • 54.15 (a)
Y18H1A.11 36
  • 47 (a)
ManyToMany
F28A10.10 37
  • 46 (a)
F08C6.2 37
  • 47 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PCT1 36
  • 31 (a)
OneToMany
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.5008 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9202 36
  • 54 (a)
OneToMany
Species with no ortholog for PCYT1A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PCYT1A Gene

ENSEMBL:
Gene Tree for PCYT1A (if available)
TreeFam:
Gene Tree for PCYT1A (if available)

Paralogs for PCYT1A Gene

Paralogs for PCYT1A Gene

Selected SIMAP similar genes for PCYT1A Gene using alignment to 10 proteins:

Pseudogenes.org Pseudogenes for PCYT1A Gene

genes like me logo Genes that share paralogs with PCYT1A: view

Variants for PCYT1A Gene

Sequence variations from dbSNP and Humsavar for PCYT1A Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs769600 -- 196,271,829(+) tcact(C/G)tgtca intron-variant
rs769601 -- 196,288,628(-) aaccc(G/T)ggagg upstream-variant-2KB
rs769602 -- 196,288,574(-) cgggc(A/G)acaga upstream-variant-2KB
rs769603 -- 196,285,287(-) gagac(A/G)gggtt intron-variant
rs796356 -- 196,279,028(-) ttaca(A/G)gtgtg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PCYT1A Gene

Variant ID Type Subtype PubMed ID
dgv1549e1 CNV Complex 17122850
nsv878175 CNV Loss 21882294
dgv5372n71 CNV Gain 21882294
dgv5373n71 CNV Gain 21882294
nsv878182 CNV Loss 21882294
esv2658720 CNV Deletion 23128226
nsv518925 CNV Loss 19592680

Relevant External Links for PCYT1A Gene

HapMap Linkage Disequilibrium report
PCYT1A
Human Gene Mutation Database (HGMD)
PCYT1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCYT1A Gene

Disorders for PCYT1A Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for PCYT1A Gene including...

Search for PCYT1A Gene in MalaCards »

(1) OMIM Diseases for PCYT1A Gene (123695)

UniProtKB/Swiss-Prot

PCY1A_HUMAN
  • Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) [MIM:608940]: A disorder characterized by postnatal growth deficiency resulting in profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction. {ECO:0000269 PubMed:24387990, ECO:0000269 PubMed:24387991}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for PCYT1A Gene

Relevant External Links for PCYT1A

Genetic Association Database (GAD)
PCYT1A
Human Genome Epidemiology (HuGE) Navigator
PCYT1A
genes like me logo Genes that share disorders with PCYT1A: view

Publications for PCYT1A Gene

  1. Primary structure and expression of a human CTP:phosphocholine cytidylyltransferase. (PMID: 7918629) Kalmar G.B. … Cornell R.B. (Biochim. Biophys. Acta 1994) 2 3 4
  2. CHKA and PCYT1A gene polymorphisms, choline intake and spina bifida risk in a California population. (PMID: 17184542) Enaw J.O. … Finnell R.H. (BMC Med 2006) 3 25 48
  3. Membrane-binding amphipathic alpha-helical peptide derived from CTP:phosphocholine cytidylyltransferase. (PMID: 8155650) Johnson J.E. … Cornell R.B. (Biochemistry 1994) 3 4
  4. Structure of the membrane binding domain of CTP:phosphocholine cytidylyltransferase. (PMID: 8810902) Dunne S.J. … Tracey A.S. (Biochemistry 1996) 3 4
  5. Membrane binding modulates the quaternary structure of CTP:phosphocholine cytidylyltransferase. (PMID: 15069071) Xie M. … Cornell R.B. (J. Biol. Chem. 2004) 3 4

Products for PCYT1A Gene

Sources for PCYT1A Gene

Back to Top

Content