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UniProtKB - P49585 (PCY1A_HUMAN)
Protein
Choline-phosphate cytidylyltransferase A
Gene
PCYT1A
Organism
Homo sapiens (Human)
Status
Functioni
Catalyzes the key rate-limiting step in the CDP-choline pathway for phosphatidylcholine biosynthesis.
2 PublicationsCatalytic activityi
Activity regulationi
By phosphorylation (By similarity). Activated by anionic lipid vesicles and by oleic acid or diacylglycerol-containing phosphatidylcholine vesicles (PubMed:7918629,PubMed:8155650).By similarity2 Publications
: phosphatidylcholine biosynthesis Pathwayi
This protein is involved in step 1 of the subpathway that synthesizes phosphatidylcholine from phosphocholine.2 Publications This subpathway is part of the pathway phosphatidylcholine biosynthesis, which is itself part of Phospholipid metabolism.View all proteins of this organism that are known to be involved in the subpathway that synthesizes phosphatidylcholine from phosphocholine, the pathway phosphatidylcholine biosynthesis and in Phospholipid metabolism.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 122 | CTPBy similarity | 1 | |
Binding sitei | 122 | SubstrateBy similarity | 1 | |
Binding sitei | 151 | SubstrateBy similarity | 1 | |
Binding sitei | 173 | CTPBy similarity | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 84 – 92 | CTPBy similarity | 9 | |
Nucleotide bindingi | 168 – 169 | CTPBy similarity | 2 | |
Nucleotide bindingi | 196 – 200 | CTPBy similarity | 5 |
GO - Molecular functioni
- calmodulin binding Source: Ensembl
- choline-phosphate cytidylyltransferase activity Source: UniProtKB
- identical protein binding Source: IntAct
- phosphatidylcholine binding Source: GO_Central
- protein homodimerization activity Source: Ensembl
GO - Biological processi
- CDP-choline pathway Source: UniProtKB
- phosphatidylcholine biosynthetic process Source: UniProtKB
Keywordsi
Molecular function | Nucleotidyltransferase, Transferase |
Biological process | Lipid biosynthesis, Lipid metabolism, Phospholipid biosynthesis, Phospholipid metabolism |
Enzyme and pathway databases
PathwayCommonsi | P49585 |
Reactomei | R-HSA-1483191, Synthesis of PC |
SignaLinki | P49585 |
SIGNORi | P49585 |
UniPathwayi | UPA00753;UER00739 |
Names & Taxonomyi
Protein namesi | Recommended name: Choline-phosphate cytidylyltransferase A (EC:2.7.7.152 Publications)Alternative name(s): CCT-alpha CTP:phosphocholine cytidylyltransferase A Short name: CCT A Short name: CT A Phosphorylcholine transferase A |
Gene namesi | Name:PCYT1A Synonyms:CTPCT, PCYT1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:8754, PCYT1A |
MIMi | 123695, gene |
neXtProti | NX_P49585 |
VEuPathDBi | HostDB:ENSG00000161217 |
Subcellular locationi
Nucleus
- Nucleus 1 Publication
Endoplasmic reticulum
- Endoplasmic reticulum 1 Publication
Cytoplasm and Cytosol
- cytosol By similarity
Other locations
- Membrane By similarity; Peripheral membrane protein By similarity
Note: It can interconvert between an inactive cytosolic form and an active membrane-bound form.By similarity
Cytosol
- cytosol Source: UniProtKB-SubCell
Endoplasmic reticulum
- endoplasmic reticulum Source: UniProtKB
- endoplasmic reticulum membrane Source: UniProtKB
Nucleus
- nuclear envelope Source: Ensembl
- nucleus Source: UniProtKB
Plasma Membrane
- plasma membrane Source: Ensembl
Other locations
- glycogen granule Source: UniProtKB
Keywords - Cellular componenti
Cytoplasm, Endoplasmic reticulum, Membrane, NucleusPathology & Biotechi
Involvement in diseasei
Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_071083 | 99 | A → T in SMDCRD. 1 PublicationCorresponds to variant dbSNP:rs587777191EnsemblClinVar. | 1 | |
Natural variantiVAR_071084 | 99 | A → V in SMDCRD. 1 PublicationCorresponds to variant dbSNP:rs587777189EnsemblClinVar. | 1 | |
Natural variantiVAR_071085 | 129 | E → K in SMDCRD. 2 PublicationsCorresponds to variant dbSNP:rs587777194EnsemblClinVar. | 1 | |
Natural variantiVAR_071086 | 150 | P → A in SMDCRD. 1 PublicationCorresponds to variant dbSNP:rs587777190EnsemblClinVar. | 1 | |
Natural variantiVAR_071087 | 191 | F → L in SMDCRD. 1 PublicationCorresponds to variant dbSNP:rs587777195EnsemblClinVar. | 1 | |
Natural variantiVAR_071088 | 223 | R → S in SMDCRD. 1 PublicationCorresponds to variant dbSNP:rs540053239EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 37 | C → S: Abolishes formation of the interchain disulfide that can be observed when the enzyme is treated with copper phenanthrolene (in vitro). 1 Publication | 1 |
Keywords - Diseasei
Cone-rod dystrophy, Disease variant, DwarfismOrganism-specific databases
DisGeNETi | 5130 |
MalaCardsi | PCYT1A |
MIMi | 608940, phenotype |
OpenTargetsi | ENSG00000161217 |
Orphaneti | 65, Leber congenital amaurosis 85167, Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome |
PharmGKBi | PA33099 |
Miscellaneous databases
Pharosi | P49585, Tchem |
Chemistry databases
ChEMBLi | CHEMBL4105855 |
DrugBanki | DB00122, Choline DB14006, Choline salicylate DB00709, Lamivudine |
Genetic variation databases
BioMutai | PCYT1A |
DMDMi | 166214967 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000208453 | 1 – 367 | Choline-phosphate cytidylyltransferase AAdd BLAST | 367 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 1 | N-acetylmethionineCombined sources | 1 | |
Modified residuei | 8 | N6-acetyllysineCombined sources | 1 | |
Modified residuei | 233 | PhosphoserineCombined sources | 1 | |
Modified residuei | 315 | PhosphoserineCombined sources | 1 | |
Modified residuei | 319 | PhosphoserineCombined sources | 1 | |
Modified residuei | 321 | PhosphoserineBy similarity | 1 | |
Modified residuei | 322 | PhosphoserineBy similarity | 1 | |
Modified residuei | 323 | PhosphoserineBy similarity | 1 | |
Modified residuei | 325 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 329 | PhosphoserineBy similarity | 1 | |
Modified residuei | 331 | PhosphoserineCombined sources | 1 | |
Modified residuei | 333 | PhosphoserineBy similarity | 1 | |
Modified residuei | 342 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 343 | PhosphoserineCombined sources | 1 | |
Modified residuei | 347 | PhosphoserineCombined sources | 1 | |
Modified residuei | 352 | PhosphoserineCombined sources | 1 | |
Modified residuei | 362 | PhosphoserineCombined sources | 1 |
Post-translational modificationi
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).By similarity
Monoubiquitinated by the SCF(FBXL2) complex, leading to proteasomal degradation.By similarity
Keywords - PTMi
Acetylation, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | P49585 |
jPOSTi | P49585 |
MassIVEi | P49585 |
MaxQBi | P49585 |
PaxDbi | P49585 |
PeptideAtlasi | P49585 |
PRIDEi | P49585 |
ProteomicsDBi | 56021 |
PTM databases
GlyGeni | P49585, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | P49585 |
MetOSitei | P49585 |
PhosphoSitePlusi | P49585 |
Expressioni
Tissue specificityi
Brain, placenta, liver, fetal and adult lung.1 Publication
Gene expression databases
Bgeei | ENSG00000161217, Expressed in sural nerve and 224 other tissues |
ExpressionAtlasi | P49585, baseline and differential |
Genevisiblei | P49585, HS |
Organism-specific databases
HPAi | ENSG00000161217, Low tissue specificity |
Interactioni
Subunit structurei
Homodimer.
By similarityBinary interactionsi
P49585
GO - Molecular functioni
- calmodulin binding Source: Ensembl
- identical protein binding Source: IntAct
- protein homodimerization activity Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 111157, 60 interactors |
IntActi | P49585, 31 interactors |
MINTi | P49585 |
STRINGi | 9606.ENSP00000292823 |
Miscellaneous databases
RNActi | P49585, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 319 – 324 | 1 | 6 | |
Repeati | 329 – 333 | 2; approximate | 5 | |
Repeati | 343 – 348 | 3 | 6 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 33 | DisorderedSequence analysisAdd BLAST | 33 | |
Regioni | 228 – 287 | AmphipathicSequence analysisAdd BLAST | 60 | |
Regioni | 256 – 288 | 3 X 11 AA approximate tandem repeats; mediates binding and activation by anionic lipid vesicles1 PublicationAdd BLAST | 33 | |
Regioni | 313 – 367 | DisorderedSequence analysisAdd BLAST | 55 | |
Regioni | 319 – 348 | 3 X repeatsAdd BLAST | 30 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 7 – 22 | Basic and acidic residuesSequence analysisAdd BLAST | 16 | |
Compositional biasi | 314 – 349 | Polar residuesSequence analysisAdd BLAST | 36 |
Sequence similaritiesi
Belongs to the cytidylyltransferase family.Curated
Keywords - Domaini
RepeatPhylogenomic databases
eggNOGi | KOG2804, Eukaryota |
GeneTreei | ENSGT00940000157384 |
HOGENOMi | CLU_034585_4_2_1 |
InParanoidi | P49585 |
OMAi | RWPFSAK |
OrthoDBi | 1172502at2759 |
PhylomeDBi | P49585 |
TreeFami | TF106336 |
Family and domain databases
CDDi | cd02174, CCT, 1 hit |
Gene3Di | 3.40.50.620, 1 hit |
InterProi | View protein in InterPro IPR041723, CCT IPR004821, Cyt_trans-like IPR045049, Pcy1-like IPR014729, Rossmann-like_a/b/a_fold |
PANTHERi | PTHR10739, PTHR10739, 1 hit |
Pfami | View protein in Pfam PF01467, CTP_transf_like, 1 hit |
TIGRFAMsi | TIGR00125, cyt_tran_rel, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 9 potential isoforms that are computationally mapped.Show allAlign All
P49585-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MDAQCSAKVN ARKRRKEAPG PNGATEEDGV PSKVQRCAVG LRQPAPFSDE
60 70 80 90 100
IEVDFSKPYV RVTMEEASRG TPCERPVRVY ADGIFDLFHS GHARALMQAK
110 120 130 140 150
NLFPNTYLIV GVCSDELTHN FKGFTVMNEN ERYDAVQHCR YVDEVVRNAP
160 170 180 190 200
WTLTPEFLAE HRIDFVAHDD IPYSSAGSDD VYKHIKEAGM FAPTQRTEGI
210 220 230 240 250
STSDIITRIV RDYDVYARRN LQRGYTAKEL NVSFINEKKY HLQERVDKVK
260 270 280 290 300
KKVKDVEEKS KEFVQKVEEK SIDLIQKWEE KSREFIGSFL EMFGPEGALK
310 320 330 340 350
HMLKEGKGRM LQAISPKQSP SSSPTRERSP SPSFRWPFSG KTSPPCSPAN
360
LSRHKAAAYD ISEDEED
Computationally mapped potential isoform sequencesi
There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketC9J050 | C9J050_HUMAN | Choline-phosphate cytidylyltransfer... | PCYT1A | 293 | Annotation score: | ||
C9JEJ2 | C9JEJ2_HUMAN | Choline-phosphate cytidylyltransfer... | PCYT1A | 380 | Annotation score: | ||
C9J2E1 | C9J2E1_HUMAN | Choline-phosphate cytidylyltransfer... | PCYT1A | 212 | Annotation score: | ||
C9JPY0 | C9JPY0_HUMAN | Choline-phosphate cytidylyltransfer... | PCYT1A | 133 | Annotation score: | ||
C9JVS0 | C9JVS0_HUMAN | Choline-phosphate cytidylyltransfer... | PCYT1A | 115 | Annotation score: | ||
F8WAZ5 | F8WAZ5_HUMAN | Choline-phosphate cytidylyltransfer... | PCYT1A | 134 | Annotation score: | ||
H7C1T3 | H7C1T3_HUMAN | Choline-phosphate cytidylyltransfer... | PCYT1A | 201 | Annotation score: | ||
H7BZN1 | H7BZN1_HUMAN | Choline-phosphate cytidylyltransfer... | PCYT1A | 137 | Annotation score: | ||
F8WBU2 | F8WBU2_HUMAN | Choline-phosphate cytidylyltransfer... | PCYT1A | 90 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 251 | K → E in AAA72127 (PubMed:7918629).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_071083 | 99 | A → T in SMDCRD. 1 PublicationCorresponds to variant dbSNP:rs587777191EnsemblClinVar. | 1 | |
Natural variantiVAR_071084 | 99 | A → V in SMDCRD. 1 PublicationCorresponds to variant dbSNP:rs587777189EnsemblClinVar. | 1 | |
Natural variantiVAR_071085 | 129 | E → K in SMDCRD. 2 PublicationsCorresponds to variant dbSNP:rs587777194EnsemblClinVar. | 1 | |
Natural variantiVAR_071086 | 150 | P → A in SMDCRD. 1 PublicationCorresponds to variant dbSNP:rs587777190EnsemblClinVar. | 1 | |
Natural variantiVAR_071087 | 191 | F → L in SMDCRD. 1 PublicationCorresponds to variant dbSNP:rs587777195EnsemblClinVar. | 1 | |
Natural variantiVAR_071088 | 223 | R → S in SMDCRD. 1 PublicationCorresponds to variant dbSNP:rs540053239EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | L28957 mRNA Translation: AAA72127.1 EU280320 Genomic DNA Translation: ABX44666.1 CH471191 Genomic DNA Translation: EAW53655.1 CH471191 Genomic DNA Translation: EAW53662.1 BC046355 mRNA Translation: AAH46355.1 |
CCDSi | CCDS3315.1 |
PIRi | S50145 |
RefSeqi | NP_001299602.1, NM_001312673.1 NP_005008.2, NM_005017.3 |
Genome annotation databases
Ensembli | ENST00000292823.6; ENSP00000292823.2; ENSG00000161217.12 ENST00000431016.6; ENSP00000394617.1; ENSG00000161217.12 |
GeneIDi | 5130 |
KEGGi | hsa:5130 |
MANE-Selecti | ENST00000431016.6; ENSP00000394617.1; NM_001312673.2; NP_001299602.1 |
UCSCi | uc003fwf.2, human |
Similar proteinsi
Cross-referencesi
Web resourcesi
SeattleSNPs |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | L28957 mRNA Translation: AAA72127.1 EU280320 Genomic DNA Translation: ABX44666.1 CH471191 Genomic DNA Translation: EAW53655.1 CH471191 Genomic DNA Translation: EAW53662.1 BC046355 mRNA Translation: AAH46355.1 |
CCDSi | CCDS3315.1 |
PIRi | S50145 |
RefSeqi | NP_001299602.1, NM_001312673.1 NP_005008.2, NM_005017.3 |
3D structure databases
AlphaFoldDBi | P49585 |
SMRi | P49585 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 111157, 60 interactors |
IntActi | P49585, 31 interactors |
MINTi | P49585 |
STRINGi | 9606.ENSP00000292823 |
Chemistry databases
ChEMBLi | CHEMBL4105855 |
DrugBanki | DB00122, Choline DB14006, Choline salicylate DB00709, Lamivudine |
PTM databases
GlyGeni | P49585, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | P49585 |
MetOSitei | P49585 |
PhosphoSitePlusi | P49585 |
Genetic variation databases
BioMutai | PCYT1A |
DMDMi | 166214967 |
Proteomic databases
EPDi | P49585 |
jPOSTi | P49585 |
MassIVEi | P49585 |
MaxQBi | P49585 |
PaxDbi | P49585 |
PeptideAtlasi | P49585 |
PRIDEi | P49585 |
ProteomicsDBi | 56021 |
Protocols and materials databases
Antibodypediai | 33936, 227 antibodies from 30 providers |
DNASUi | 5130 |
Genome annotation databases
Ensembli | ENST00000292823.6; ENSP00000292823.2; ENSG00000161217.12 ENST00000431016.6; ENSP00000394617.1; ENSG00000161217.12 |
GeneIDi | 5130 |
KEGGi | hsa:5130 |
MANE-Selecti | ENST00000431016.6; ENSP00000394617.1; NM_001312673.2; NP_001299602.1 |
UCSCi | uc003fwf.2, human |
Organism-specific databases
CTDi | 5130 |
DisGeNETi | 5130 |
GeneCardsi | PCYT1A |
HGNCi | HGNC:8754, PCYT1A |
HPAi | ENSG00000161217, Low tissue specificity |
MalaCardsi | PCYT1A |
MIMi | 123695, gene 608940, phenotype |
neXtProti | NX_P49585 |
OpenTargetsi | ENSG00000161217 |
Orphaneti | 65, Leber congenital amaurosis 85167, Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome |
PharmGKBi | PA33099 |
VEuPathDBi | HostDB:ENSG00000161217 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2804, Eukaryota |
GeneTreei | ENSGT00940000157384 |
HOGENOMi | CLU_034585_4_2_1 |
InParanoidi | P49585 |
OMAi | RWPFSAK |
OrthoDBi | 1172502at2759 |
PhylomeDBi | P49585 |
TreeFami | TF106336 |
Enzyme and pathway databases
UniPathwayi | UPA00753;UER00739 |
PathwayCommonsi | P49585 |
Reactomei | R-HSA-1483191, Synthesis of PC |
SignaLinki | P49585 |
SIGNORi | P49585 |
Miscellaneous databases
BioGRID-ORCSi | 5130, 453 hits in 1094 CRISPR screens |
ChiTaRSi | PCYT1A, human |
GeneWikii | PCYT1A |
GenomeRNAii | 5130 |
Pharosi | P49585, Tchem |
PROi | PR:P49585 |
RNActi | P49585, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000161217, Expressed in sural nerve and 224 other tissues |
ExpressionAtlasi | P49585, baseline and differential |
Genevisiblei | P49585, HS |
Family and domain databases
CDDi | cd02174, CCT, 1 hit |
Gene3Di | 3.40.50.620, 1 hit |
InterProi | View protein in InterPro IPR041723, CCT IPR004821, Cyt_trans-like IPR045049, Pcy1-like IPR014729, Rossmann-like_a/b/a_fold |
PANTHERi | PTHR10739, PTHR10739, 1 hit |
Pfami | View protein in Pfam PF01467, CTP_transf_like, 1 hit |
TIGRFAMsi | TIGR00125, cyt_tran_rel, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | PCY1A_HUMAN | |
Accessioni | P49585Primary (citable) accession number: P49585 Secondary accession number(s): A9LYK9, D3DXB1, Q86Y88 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 1, 1996 |
Last sequence update: | January 15, 2008 | |
Last modified: | May 25, 2022 | |
This is version 188 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - SIMILARITY comments
Index of protein domains and families