PCYT1A
PCYT1A 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.
Full Name
phosphate cytidylyltransferase 1, choline, alpha
Function
Catalyzes the key rate-limiting step in the CDP-choline pathway for phosphatidylcholine biosynthesis.
Biological Process
CDP-choline pathwayManual Assertion Based On ExperimentIDA:UniProtKB
Phosphatidylcholine biosynthetic processManual Assertion Based On ExperimentIDA:UniProtKB
Phosphatidylcholine biosynthetic processManual Assertion Based On ExperimentIDA:UniProtKB
Cellular Location
Cytoplasm, cytosol
Membrane
Endoplasmic reticulum
Nucleus
It can interconvert between an inactive cytosolic form and an active membrane-bound form.
Membrane
Endoplasmic reticulum
Nucleus
It can interconvert between an inactive cytosolic form and an active membrane-bound form.
Involvement in disease
Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD):
A 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.
A 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.
PTM
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).
Monoubiquitinated by the SCF(FBXL2) complex, leading to proteasomal degradation.
Monoubiquitinated by the SCF(FBXL2) complex, leading to proteasomal degradation.
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Anti-PCYT1A antibodies
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CompareTarget: PCYT1A
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: CBYC-P235
Application*: E, WB
Target: PCYT1A
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human, Mouse, Rat, Monkey
Clone: D18B6
Application*: WB, IP
Target: PCYT1A
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human, Rat
Clone: 7H8
Application*: E, WB
Target: PCYT1A
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: 6E6
Application*: E, IF, WB
Target: PCYT1A
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human
Clone: 4F2
Application*: E, WB, IF
Target: PCYT1A
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human
Clone: BA0249
Application*: F, IF, IP, WB
Target: PCYT1A
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human, Mouse
Clone: BA0248
Application*: IC, P, WB
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For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
- AActivation
- AGAgonist
- APApoptosis
- BBlocking
- BABioassay
- BIBioimaging
- CImmunohistochemistry-Frozen Sections
- CIChromatin Immunoprecipitation
- CTCytotoxicity
- CSCostimulation
- DDepletion
- DBDot Blot
- EELISA
- ECELISA(Cap)
- EDELISA(Det)
- ESELISpot
- EMElectron Microscopy
- FFlow Cytometry
- FNFunction Assay
- GSGel Supershift
- IInhibition
- IAEnzyme Immunoassay
- ICImmunocytochemistry
- IDImmunodiffusion
- IEImmunoelectrophoresis
- IFImmunofluorescence
- IGImmunochromatography
- IHImmunohistochemistry
- IMImmunomicroscopy
- IOImmunoassay
- IPImmunoprecipitation
- ISIntracellular Staining for Flow Cytometry
- LALuminex Assay
- LFLateral Flow Immunoassay
- MMicroarray
- MCMass Cytometry/CyTOF
- MDMeDIP
- MSElectrophoretic Mobility Shift Assay
- NNeutralization
- PImmunohistologyp-Paraffin Sections
- PAPeptide Array
- PEPeptide ELISA
- PLProximity Ligation Assay
- RRadioimmunoassay
- SStimulation
- SESandwich ELISA
- SHIn situ hybridization
- TCTissue Culture
- WBWestern Blot
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