Entity Details

Primary name PCY2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ99447
EntryNamePCY2_HUMAN
FullNameEthanolamine-phosphate cytidylyltransferase
TaxID9606
Evidenceevidence at protein level
Length389
SequenceStatuscomplete
DateCreated2001-01-24
DateModified2021-06-02

Ontological Relatives

GenesPCYT2

GO terms

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GOName
GO:0004306 ethanolamine-phosphate cytidylyltransferase activity
GO:0005789 endoplasmic reticulum membrane
GO:0006646 phosphatidylethanolamine biosynthetic process
GO:0008654 phospholipid biosynthetic process

Subcellular Location

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Domains

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DomainNameCategoryType
IPR004821 Cytidyltransferase-like domainDomainDomain
IPR014729 Rossmann-like alpha/beta/alpha sandwich foldFamilyHomologous superfamily
IPR041723 CTP:phosphocholine cytidylyltransferase domainDomainDomain
IPR044608 Ethanolamine-phosphate cytidylyltransferaseFamilyFamily

Diseases

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Disease IDSourceNameDescription
618770 OMIMSpastic paraplegia 82, autosomal recessive (SPG82)A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG82 is a complicated form characterized by global developmental delay with regression, spastic para- or tetraparesis, epilepsy and progressive cerebral and cerebellar atrophy. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00709 LamivudineDrugbanksmall molecule