2. Gene
  3. PCYT1A - phosphate cytidylyltransferase 1A, choline Gene

PCYT1A - phosphate cytidylyltransferase 1A, choline Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as CT; CTA; CCTA; CTPCT; PCYT1; SMDCRD; CCTalpha

Gene ID: 5130 | Gene type: protein coding

About PCYT1A

Cytogenetic location: 3q29 Genomic coordinates (GRCh38): 3:196,234,368-196,287,726 (from NCBI)

This gene has 16 transcripts (splice variants), 231 orthologues, 2 paralogues and is associated with 4 phenotypes. Ubiquitous expression in duodenum (RPKM 22.3), small intestine (RPKM 20.1) and 25 other tissues.

Summary

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]

PCYT1A Products(2)

mRNA Protein Name
NM_001312673.2 NP_001299602.1 choline-phosphate cytidylyltransferase A
NM_005017.4 NP_005008.2 choline-phosphate cytidylyltransferase A
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables choline-phosphate cytidylyltransferase activity IDA
IDA: Inferred from direct assay
10480912 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
28514442 GOA
Biological Process GO Annotation Evidence Reference Source
involved in CDP-choline pathway IDA
IDA: Inferred from direct assay
10480912 GOA
involved in phosphatidylcholine biosynthetic process IDA
IDA: Inferred from direct assay
10480912 GOA
Cellular Component GO Annotation Evidence Reference Source
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
10480912 GOA
is active in endoplasmic reticulum membrane IDA
IDA: Inferred from direct assay
10480912 GOA
located in nucleus IDA
IDA: Inferred from direct assay
10480912 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PCYT1A Protein Structure

CTP_transf_like

CTP_transf_like: Cytidylyltransferase-like (80 - 208)

  • 0
  • 100
  • 200
  • 300
  • 367 a.a.
Protein Preferred Names Protein Names

choline-phosphate cytidylyltransferase A

CCT A

PCYT1A Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
PCYT1A P49585 TNFRSF10D Homo sapiens Q9UBN6
Y2H Array
32296183
Intra
PCYT1A P49585 TNFRSF10D Homo sapiens Q9UBN6
Validated Y2H
32296183
Intra
PCYT1A P49585 TNFRSF10D Homo sapiens Q9UBN6
Y2H Prey Pooling
32296183
Intra
PCYT1A P49585 VKORC1L1 Homo sapiens Q8N0U8
Validated Y2H
32296183
Intra
PCYT1A P49585 AGTRAP Homo sapiens Q6RW13-2
Y2H Prey Pooling
32296183
Intra
PCYT1A P49585 AGTRAP Homo sapiens Q6RW13-2
Validated Y2H
32296183
Intra
PCYT1A P49585 AGTRAP Homo sapiens Q6RW13-2
Y2H Array
32296183
Intra
PCYT1A P49585 PCYT1B Homo sapiens Q9Y5K3-3
Y2H Prey Pooling
32296183
Intra
PCYT1A P49585 PCYT1B Homo sapiens Q9Y5K3-3
Validated Y2H
32296183
Intra
PCYT1A P49585 PCYT1B Homo sapiens Q9Y5K3-3
Y2H Array
32296183
Intra
PCYT1A P49585 MOB3C Homo sapiens Q70IA8
Validated Y2H
32296183
Intra
PCYT1A P49585 MAGEA3 Homo sapiens P43357
Y2H Prey Pooling
32296183
Intra
PCYT1A P49585 MOB1A Homo sapiens Q9H8S9
Validated Y2H
32296183
Intra
PCYT1A P49585 MAGEA3 Homo sapiens P43357
Y2H Array
32296183
Intra
PCYT1A P49585 FKBP7 Homo sapiens Q9Y680
Validated Y2H
32296183
Intra
PCYT1A P49585 FKBP7 Homo sapiens Q9Y680
Y2H Array
32296183
Intra
PCYT1A P49585 FKBP7 Homo sapiens Q9Y680
Y2H Prey Pooling
32296183
Intra
PCYT1A P49585 SNAPIN Homo sapiens O95295
Y2H Array
32296183
Intra
PCYT1A P49585 SNAPIN Homo sapiens O95295
Y2H Prey Pooling
32296183
Intra
PCYT1A P49585 SCAMP1 Homo sapiens O15126
Y2H Prey Pooling
32296183
Intra
PCYT1A P49585 SCAMP1 Homo sapiens O15126
Y2H Array
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy

Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome

SMDCRD

Smd-Crd

Dysplasia, Spondylometaphyseal, With Cone-Rod Dystrophy
Leber Plus Disease

Leber Congenital Amaurosis

Lca

Leber'S Amaurosis

Leber'S Disease

Amaurosis Congenita Of Leber

Amaurosis Congenita Of Leber, Type 1

Lhon Plus Disease

Congenital Absence Of The Rods And Cones

Congenital Retinal Blindness

Crb

Congenital Amaurosis Of Retinal Origin

Leber'S Congenital Amaurosis

Leber Congenital Amaurosis 1

Leber'S Congenital Tapetoretinal Degeneration

Leber'S Congenital Tapetoretinal Dysplasia

Lca1

Leber Congenital Amaurosis Type 1

Retinal Blindness, Congenital

Amaurosis, Leber Congenital

Dysgenesis Neuroepithelialis Retinae

Hereditary Epithelial Dysplasia Of Retina

Hereditary Retinal Aplasia

Heredoretinopathia Congenitalis

Leber Abiotrophy

Leber Congenital Tapetoretinal Degeneration

Lebers Congenital Amaurosis

Optic Atrophy, Hereditary, Leber
Occlusion Of Gallbladder

Obstruction Of Gallbladder

Gallbladder Obstruction
Spondylometaphyseal Dysplasia With Corneal Dystrophy

SMDCD

Spondylometaphyseal Dysplasia-Corneal Dystrophy Syndrome

Smd-Corneal Dystrophy Syndrome
Meckel'S Diverticulitis

Meckel Diverticulitis
Lenz-Majewski Hyperostotic Dwarfism

Lenz-Majewski Syndrome

Lenz Majewski Hyperostotic Dwarfism

LMHD

Hyperostotic Dwarfism Lenz-Majewski Type

Lenz-Majewski Hyperostotic Dysplasia

Multiple Congenital Anomalies, Intellectual Disability And Progressive Skeletal Sclerosis

Lms
Immunodeficiency 46

Tfrc-Related Combined Immunodeficiency

IMD46

Cid Due To Tfrc Deficiency

Combined Immunodeficiency Due To Tfrc Deficiency
Calvarial Doughnut Lesions With Bone Fragility

Calvarial Doughnut Lesions With Bone Fragility With Or Without Spondylometaphyseal Dysplasia

Calvarial Doughnut Lesions-Bone Fragility Syndrome

CDL

Doughnut Lesions Of Skull, Familial

Calvarial Doughnut Lesions With Bone Fragility And Spondylometaphyseal Dysplasia

Familial Doughnut Lesions Of Skull

CDLSMD
Lipodystrophy, Familial Partial, Type 3

FPLD3

Pparg-Related Familial Partial Lipodystrophy

Familial Partial Lipodystrophy Type 3

Familial Partial Lipodystrophy Associated With Pparg Mutations

Pparg-Related Fpld

Lipodystrophy, Familial Partial, Associated With Pparg Mutations

Insulin Resistance, Severe, Digenic

Lipodystrophy, Familial Partial, 3

Familial Partial Lipodystrophy, Type 3
Spondyloepimetaphyseal Dysplasia, Strudwick Type

Spondylometaphyseal Dysplasia

Strudwick Syndrome

Dappled Metaphysis Syndrome

Semd, Strudwick Type

Spondylometaepiphyseal Dysplasia Congenita, Strudwick Type

Smed, Strudwick Type

Smd

Smed Strudwick Type

SEMDSTWK

Smed, Type I

Semdc

Smed Type 1

Spondyloepimetaphyseal Dysplasia Strudwick Type

Sed Strudwick

Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type

Smed Type I

Spondyloepiphyseal Dysplasia Congenita With Dappled Metaphyses

Dysplasia, Spondyloepimetaphyseal, Strudwick Type

Dysplasia, Spondylometaphyseal
Bladder Carcinoma In Situ

Carcinoma In Situ Of Bladder

Bladder Ca In Situ

Flat Cis Of The Urinary Bladder

Carcinoma In Situ Of Urinary Bladder
Lipodystrophy, Familial Partial, Type 6

FPLD6

Lipe-Related Familial Partial Lipodystrophy

Familial Partial Lipodystrophy Type 6

Lipe-Related Fpld

Lipodystrophy, Familial Partial, Associated With Lipe Mutations

Familial Partial Lipodystrophy Associated With Lipe Mutations

Lipodystrophy, Familial Partial, 6
Choline Deficiency Disease

Choline Deficiency
Congenital Generalized Lipodystrophy

Berardinelli-Seip Congenital Lipodystrophy

Berardinelli-Seip Syndrome

Brunzell Syndrome

Bscl

Generalized Lipodystrophy

Lipodystrophy, Congenital Generalized

Seip Syndrome

Total Lipodystrophy

Cgl

Lipoatrophic Diabetes

Lipodystrophy, Generalized, Congenital

Familial Generalized Lipodystrophy

Congenital Generalized Lipodystrophy Type 2

Lipoatrophic Diabetes Mellitus

Familial Partial Lipodystrophy, Type 2
Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy
Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS10180 PCYT1A Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus PCYT1A MGD MGI:88557
Bos taurus PCYT1A VGNC VGNC:32652
Canis familiaris PCYT1A VGNC VGNC:44329
Macaca mulatta PCYT1A VGNC VGNC:110349
Rattus norvegicus PCYT1A RGD RGD:70515
Felis catus PCYT1A VGNC VGNC:68739