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] See more...

Aliases for PCYT1A Gene

Aliases for PCYT1A Gene

  • Phosphate Cytidylyltransferase 1A, Choline 2 3
  • Phosphate Cytidylyltransferase 1, Choline, Alpha 2 3 5
  • CTPCT 2 3 4
  • CTP:Phosphocholine Cytidylyltransferase-Alpha 2 3
  • Choline-Phosphate Cytidylyltransferase Alpha 2 3
  • CTP:Phosphocholine Cytidylyltransferase A 3 4
  • Choline-Phosphate Cytidylyltransferase A 3 4
  • Phosphorylcholine Transferase Alpha 2 3
  • Phosphorylcholine Transferase A 3 4
  • EC 2.7.7.15 4 50
  • CCT-Alpha 3 4
  • CCTalpha 2 3
  • PCYT1 3 4
  • CCT A 3 4
  • CT A 3 4
  • CT 2 3
  • Phosphate Cytidylyltransferase 1, Choline, Alpha Isoform 2
  • EC 2.7.7 50
  • SMDCRD 3
  • PCYT1A 5
  • CCTA 3
  • CTA 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

Entrez Gene Summary for PCYT1A 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]

GeneCards Summary for PCYT1A Gene

PCYT1A (Phosphate Cytidylyltransferase 1A, Choline) is a Protein Coding gene. Diseases associated with PCYT1A include Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy and Leber Plus Disease. Among its related pathways are Glycerophospholipid biosynthesis and Metabolism. Gene Ontology (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 Summary for PCYT1A Gene

  • Catalyzes the key rate-limiting step in the CDP-choline pathway for phosphatidylcholine biosynthesis.

Gene Wiki entry for PCYT1A Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PCYT1A Gene

Genomics for PCYT1A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PCYT1A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PCYT1A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PCYT1A

Top Transcription factor binding sites by QIAGEN in the PCYT1A gene promoter:
  • AML1a
  • c-Rel
  • Hlf
  • HTF
  • Meis-1
  • Meis-1a
  • Meis-1b
  • Pax-2
  • Pax-2a
  • RORalpha2

Genomic Locations for PCYT1A Gene

Latest Assembly
chr3:196,214,222-196,287,957
(GRCh38/hg38)
Size:
73,736 bases
Orientation:
Minus strand

Previous Assembly
chr3:195,961,239-196,014,597
(GRCh37/hg19 by Entrez Gene)
Size:
53,359 bases
Orientation:
Minus strand

chr3:195,941,093-196,014,828
(GRCh37/hg19 by Ensembl)
Size:
73,736 bases
Orientation:
Minus strand

Genomic View for PCYT1A Gene

Genes around PCYT1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCYT1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Selected DME Specific Peptides for PCYT1A Gene

P49585:
  • ERSPSPSFRWPFSGKTSP
  • APWTLTPEFL
  • VAHDDIPY
  • WEEKSREFIGSFLEMFGPEGALKHMLKEGKGRMLQAISP
  • STSDIIT
  • FKGFTVMNE
  • CRYVDEV
  • RPVRVYADG

Post-translational modifications for PCYT1A Gene

  • 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).
  • Monoubiquitinated by the SCF(FBXL2) complex, leading to proteasomal degradation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibodies for research

  • Boster Bio Antibodies for PCYT1A
  • Santa Cruz Biotechnology (SCBT) Antibodies for PCYT1A

Domains & Families for PCYT1A Gene

Gene Families for PCYT1A Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for PCYT1A Gene

InterPro:
Blocks:
  • Cytidylyltransferase

Suggested Antigen Peptide Sequences for PCYT1A Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53135, highly similar to Choline-phosphate cytidylyltransferase A (EC 2.7.7.15) (B4E322_HUMAN)
  • Phosphorylcholine transferase A (PCY1A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P49585

UniProtKB/Swiss-Prot:

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

Function for PCYT1A Gene

Molecular function for PCYT1A Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the key rate-limiting step in the CDP-choline pathway for phosphatidylcholine biosynthesis.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=CTP + H(+) + phosphocholine = CDP-choline + diphosphate; Xref=Rhea:RHEA:18997, ChEBI:CHEBI:15378, ChEBI:CHEBI:33019, ChEBI:CHEBI:37563, ChEBI:CHEBI:58779, ChEBI:CHEBI:295975; EC=2.7.7.15; Evidence={ECO:0000269|PubMed:10480912, ECO:0000269|PubMed:7918629};.
UniProtKB/Swiss-Prot EnzymeRegulation:
By phosphorylation (By similarity). Activated by anionic lipid vesicles and by oleic acid or diacylglycerol-containing phosphatidylcholine vesicles (PubMed:7918629,PubMed:8155650).
GENATLAS Biochemistry:
CTP phosphocholine cytidyltransferase,42kDa,including 2 isoforms alpha and beta,regulator of phosphatidylcholine

Enzyme Numbers (IUBMB) for PCYT1A Gene

Phenotypes From GWAS Catalog for PCYT1A Gene

Gene Ontology (GO) - Molecular Function for PCYT1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004105 choline-phosphate cytidylyltransferase activity TAS,ISS --
GO:0005515 protein binding IPI 32296183
GO:0005516 calmodulin binding IEA --
GO:0008289 lipid binding IEA --
genes like me logo Genes that share ontologies with PCYT1A: view
genes like me logo Genes that share phenotypes with PCYT1A: view

Human Phenotype Ontology for PCYT1A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PCYT1A Gene

MGI Knock Outs for PCYT1A:

Animal Models for research

  • Taconic Biosciences Mouse Models for PCYT1A

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PCYT1A

No data available for Transcription Factor Targets 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. Endoplasmic reticulum. Nucleus. Note=It can interconvert between an inactive cytosolic form and an active membrane-bound form. {ECO:0000250 UniProtKB:P19836}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PCYT1A gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 5
cytosol 4
plasma membrane 2
mitochondrion 2
extracellular 1
cytoskeleton 1
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PCYT1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 10480912
GO:0005635 nuclear envelope IEA --
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IBA,IDA 10480912
GO:0005789 endoplasmic reticulum membrane TAS --
genes like me logo Genes that share ontologies with PCYT1A: view

Pathways & Interactions for PCYT1A Gene

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

UniProtKB/Swiss-Prot P49585-PCY1A_HUMAN

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

SIGNOR curated interactions for PCYT1A Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for PCYT1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006656 phosphatidylcholine biosynthetic process TAS --
GO:0006657 CDP-choline pathway ISS --
GO:0008654 phospholipid biosynthetic process IEA --
GO:0009058 biosynthetic process IEA --
genes like me logo Genes that share ontologies with PCYT1A: view

Drugs & Compounds for PCYT1A Gene

(8) Drugs for PCYT1A Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Choline Approved Nutra Target, product of 240
Lamivudine Approved, Investigational Pharma Enzyme, substrate Nucleoside analog reverse transcriptase inhibitor 728
Choline salicylate Approved Nutra Target, product of 0
Citicoline Approved, Experimental Pharma 0
Cytidine triphosphate Experimental Pharma 0

(19) Additional Compounds for PCYT1A Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
CE(22:0)
  • 1-Tetradecanoyl-2-octadecanoyl-sn-glycero-3-phosphocholine
  • GPCho(14:0/18:0)
  • Phosphatidylcholine(14:0/18:0)
  • 1-Myristoyl-2-stearoylphosphatidylcholine
  • 1m-2S-PC
61510-09-6
CMP-N-trimethyl-2-aminoethylphosphonate
  • CMP-2-Trimethylaminoethylphosphonate
  • CMP-2-Trimethylaminoethylphosphonic acid
  • CMP-N-Trimethyl-2-aminoethylphosphonic acid
DG(16:0/24:0/0:0)
  • 1-Palmitoyl-2-lignoceroyl-sn-glycerol
  • DAG(16:0/24:0)
  • DAG(40:0)
  • DG(16:0/24:0)
  • DG(40:0)
Diglycerides Group A
  • (2R)-2-Hydroxy-3-(pentadecanoyloxy)propyl (11Z)-icos-11-enoic acid
  • Diacylglycerol(15:0/0:0/20:1)
  • DAG(35:1)
  • Diacylglycerol(35:1)
  • DG(15:0/0:0/20:1W9)
Diglycerides Group B
  • Diglyceride
  • DG(32:4)
  • DG(14:1/18:3)
  • DAG(14:1/18:3)
  • Diacylglycerol(32:4)
257891-89-7
genes like me logo Genes that share compounds with PCYT1A: view

Transcripts for PCYT1A Gene

mRNA/cDNA for PCYT1A Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PCYT1A

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

Expression for PCYT1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 (x4.3).

Protein differential expression in normal tissues from HIPED for PCYT1A Gene

This gene is overexpressed in Breast (52.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PCYT1A Gene



Protein tissue co-expression partners for PCYT1A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PCYT1A

SOURCE GeneReport for Unigene cluster for PCYT1A Gene:

Hs.135997

mRNA Expression by UniProt/SwissProt for PCYT1A Gene:

P49585-PCY1A_HUMAN
Tissue specificity: Brain, placenta, liver, fetal and adult lung.

Evidence on tissue expression from TISSUES for PCYT1A Gene

  • Nervous system(4.8)
  • Liver(4.5)
  • Muscle(2.5)
  • Skin(2.5)
  • Heart(2.3)
  • Lung(2.3)
  • Intestine(2.2)
  • Kidney(2.1)
  • Lymph node(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PCYT1A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • immune
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • eyelid
  • head
  • jaw
  • mandible
  • maxilla
  • middle ear
  • mouth
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • peripheral nervous system
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with PCYT1A: view

Primer products for research

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 29
  • 99.84 (n)
Dog
(Canis familiaris)
Mammalia PCYT1A 29 30
  • 92.46 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PCYT1A 29 30
  • 91.87 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Pcyt1a 29 16 30
  • 89.74 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pcyt1a 29
  • 89.37 (n)
Oppossum
(Monodelphis domestica)
Mammalia PCYT1A 30
  • 55 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PCYT1A 30
  • 54 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PCYT1A 29 30
  • 80.6 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PCYT1A 30
  • 88 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pcyt1a 29
  • 76.2 (n)
Str.1627 29
African clawed frog
(Xenopus laevis)
Amphibia pcyt1a-prov 29
Zebrafish
(Danio rerio)
Actinopterygii pcyt1ab 30
  • 75 (a)
OneToMany
pcyt1aa 29 30
  • 73.44 (n)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Cct1 29 30 31
  • 63.21 (n)
ManyToMany
Cct2 30 31
  • 46 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002263 29
  • 56.61 (n)
Worm
(Caenorhabditis elegans)
Secernentea Y18H1A.11 29 30
  • 54 (n)
ManyToMany
F28A10.10 30 31
  • 50 (a)
ManyToMany
F08C6.2 31
  • 47 (a)
pcyt-1 30
  • 37 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PCT1 30
  • 31 (a)
OneToMany
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.5008 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.9202 30
  • 54 (a)
OneToMany
Species where no ortholog for PCYT1A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PCYT1A: view image
Alliance of Genome Resources:
Additional Orthologs for PCYT1A

Paralogs for PCYT1A Gene

Paralogs for PCYT1A Gene

(2) SIMAP similar genes for PCYT1A Gene using alignment to 10 proteins:

  • PCY1A_HUMAN
  • C9J050_HUMAN
  • C9J2E1_HUMAN
  • C9JEJ2_HUMAN
  • C9JPY0_HUMAN
  • C9JVS0_HUMAN
  • F8WAZ5_HUMAN
  • F8WBU2_HUMAN
  • H7BZN1_HUMAN
  • H7C1T3_HUMAN
genes like me logo Genes that share paralogs with PCYT1A: view

Variants for PCYT1A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PCYT1A Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
1001087 Uncertain Significance: not provided 196,238,848(-) C/G
NM_001312673.2(PCYT1A):c.944G>C (p.Ser315Thr)
MISSENSE
1004313 Uncertain Significance: not provided 196,239,603(-) TCTC/T
NM_001312673.2(PCYT1A):c.835GAG[1] (p.Glu280del)
INFRAME_DELETION
1005926 Uncertain Significance: not provided 196,238,742(-) A/T
NM_001312673.2(PCYT1A):c.1050T>A (p.Asn350Lys)
MISSENSE
1011161 Uncertain Significance: not provided 196,247,378(-) C/A
NM_001312673.2(PCYT1A):c.475G>T (p.Ala159Ser)
MISSENSE
1014923 Uncertain Significance: not provided 196,239,596(-) C/T
NM_001312673.2(PCYT1A):c.848G>A (p.Arg283Gln)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PCYT1A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv2689n106 CNV duplication 24896259
esv2658720 CNV deletion 23128226
esv2759213 CNV gain+loss 17122850
esv3330620 CNV duplication 20981092
esv3341217 CNV duplication 20981092
esv3599276 CNV loss 21293372
esv3599277 CNV gain 21293372
esv3599278 CNV gain 21293372
esv3599279 CNV gain 21293372
nsv1008512 CNV gain 25217958
nsv1009811 CNV gain 25217958
nsv1117050 CNV deletion 24896259
nsv1146811 CNV duplication 26484159
nsv518925 CNV loss 19592680
nsv593071 CNV gain 21841781
nsv950310 CNV duplication 24416366
nsv997797 CNV gain 25217958

Variation tolerance for PCYT1A Gene

Residual Variation Intolerance Score: 50.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.88; 35.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PCYT1A Gene

Human Gene Mutation Database (HGMD)
PCYT1A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCYT1A
Leiden Open Variation Database (LOVD)
PCYT1A

SNP Genotyping and Copy Number Assays for research

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

Disorders for PCYT1A Gene

MalaCards: The human disease database

(9) MalaCards diseases for PCYT1A Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

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 variants affecting the gene represented in this entry.

Additional Disease Information for PCYT1A

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PCYT1A: view

No data available for Genatlas for PCYT1A Gene

Publications for PCYT1A Gene

  1. Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy. (PMID: 24387991) Yamamoto GL … Bertola DR (American journal of human genetics 2014) 3 4 72
  2. Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy. (PMID: 24387990) Hoover-Fong J … Pauli RM (American journal of human genetics 2014) 3 4 72
  3. Distribution of CTP:phosphocholine cytidylyltransferase (CCT) isoforms. Identification of a new CCTbeta splice variant. (PMID: 10480912) Lykidis A … Jackowski S (The Journal of biological chemistry 1999) 3 4 22
  4. Primary structure and expression of a human CTP:phosphocholine cytidylyltransferase. (PMID: 7918629) Kalmar GB … Cornell RB (Biochimica et biophysica acta 1994) 2 3 4
  5. Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy. (PMID: 28272537) Testa F … Banfi S (European journal of human genetics : EJHG 2017) 3 72

Products for PCYT1A Gene