PCYT1A - phosphate cytidylyltransferase 1A, choline Gene

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

PCYT1A Protein Structure

CTP_transf_like

0
100
200
300
367 a.a.

Protein Preferred Names

Protein Names

choline-phosphate cytidylyltransferase A

CCT A

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		/	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

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