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PCYT1A

GENERAL INFORMATION

Gene name

 PCYT1A

Gene description

 Phosphate cytidylyltransferase 1, choline, alpha

Protein class

 Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 9
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Nuclear expression in most tissues.

DATA RELIABILITY

Data reliability
description

 Pending external verification. Limited external characterization data supports antibody staining.

Reliability score

 Approved based on 1 antibody.
HPA035428
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Skin

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 PCYT1A (HGNC Symbol)

Synonyms

 CT, CTPCT, PCYT1

Description

 Phosphate cytidylyltransferase 1, choline, alpha (HGNC Symbol)

Entrez gene 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]

Chromosome

 3

Cytoband

 q29

Chromosome location (bp)

 196214222 - 196287957

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000161217 (version 83.38)

Entrez gene

 5130

UniProt

 P49585 (UniProt - Evidence at protein level)

neXtProt

 NX_P49585

Antibodypedia

 PCYT1A antibodies

PROTEIN BROWSER
PCYT1A-001
PCYT1A-005
PCYT1A-006
PCYT1A-007
PCYT1A-009
PCYT1A-011
PCYT1A-014
PCYT1A-016
PCYT1A-018

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
PCYT1A-001
ENSP00000292823
ENST00000292823
P49585 [Direct mapping]
Choline-phosphate cytidylyltransferase A
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Enzymes
   ENZYME proteins
   Transferases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003824 [catalytic activity]
GO:0004105 [choline-phosphate cytidylyltransferase activity]
GO:0005515 [protein binding]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005829 [cytosol]
GO:0006644 [phospholipid metabolic process]
GO:0006656 [phosphatidylcholine biosynthetic process]
GO:0006657 [CDP-choline pathway]
GO:0008289 [lipid binding]
GO:0009058 [biosynthetic process]
GO:0042587 [glycogen granule]
GO:0042803 [protein homodimerization activity]
GO:0044281 [small molecule metabolic process]
GO:0046474 [glycerophospholipid biosynthetic process]
Show all
 367 aa
41.7 kDa 		No 0
PCYT1A-005
ENSP00000394617
ENST00000431016
P49585 [Direct mapping]
Choline-phosphate cytidylyltransferase A
Show all
Enzymes
   ENZYME proteins
   Transferases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003824 [catalytic activity]
GO:0004105 [choline-phosphate cytidylyltransferase activity]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005829 [cytosol]
GO:0006644 [phospholipid metabolic process]
GO:0006656 [phosphatidylcholine biosynthetic process]
GO:0006657 [CDP-choline pathway]
GO:0009058 [biosynthetic process]
GO:0042587 [glycogen granule]
GO:0044281 [small molecule metabolic process]
GO:0046474 [glycerophospholipid biosynthetic process]
Show all
 367 aa
41.7 kDa 		No 0
PCYT1A-006
ENSP00000390968
ENST00000419333
C9JEJ2 [Direct mapping]
Choline-phosphate cytidylyltransferase A
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003824 [catalytic activity]
GO:0009058 [biosynthetic process]
Show all
 380 aa
43.3 kDa 		No 0
PCYT1A-007
ENSP00000393341
ENST00000443555
C9JVS0 [Direct mapping]
Choline-phosphate cytidylyltransferase A
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003824 [catalytic activity]
GO:0009058 [biosynthetic process]
Show all
 115 aa
12.7 kDa 		No 0
PCYT1A-009
ENSP00000400430
ENST00000411591
C9J050 [Direct mapping]
Choline-phosphate cytidylyltransferase A
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003824 [catalytic activity]
GO:0009058 [biosynthetic process]
Show all
 293 aa
33.7 kDa 		No 0
PCYT1A-011
ENSP00000392397
ENST00000441879
C9J2E1 [Direct mapping]
Choline-phosphate cytidylyltransferase A
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003824 [catalytic activity]
GO:0009058 [biosynthetic process]
Show all
 213 aa
24.1 kDa 		No 0
PCYT1A-014
ENSP00000402015
ENST00000412869
C9JPY0 [Direct mapping]
Choline-phosphate cytidylyltransferase A
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003824 [catalytic activity]
GO:0009058 [biosynthetic process]
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 133 aa
14.9 kDa 		No 0
PCYT1A-016
ENSP00000390458
ENST00000433733
H7BZN1 [Direct mapping]
Choline-phosphate cytidylyltransferase A
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003824 [catalytic activity]
GO:0009058 [biosynthetic process]
Show all
 137 aa
15.8 kDa 		No 0
PCYT1A-018
ENSP00000402283
ENST00000430755
H7C1T3 [Direct mapping]
Choline-phosphate cytidylyltransferase A
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003824 [catalytic activity]
GO:0009058 [biosynthetic process]
Show all
 201 aa
22.8 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.