PCYT1A - phosphate cytidylyltransferase 1A, choline Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5130

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	References	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	References	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	References	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

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	References
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

PCYT1A Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82487	CT A Antibody (YA2232)	WB, ICC/IF, FC, IP	Human

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

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 Set	/	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
Others	PCYT1A	NCBI