Entity Details

Primary name FCSK_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8N0W3
EntryNameFCSK_HUMAN
FullNameL-fucose kinase
TaxID9606
Evidenceevidence at protein level
Length1084
SequenceStatuscomplete
DateCreated2002-11-28
DateModified2021-06-02

Ontological Relatives

GenesFCSK

GO terms

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GOName
GO:0005524 ATP binding
GO:0005829 cytosol
GO:0042352 GDP-L-fucose salvage
GO:0046835 carbohydrate phosphorylation
GO:0050201 fucokinase activity
GO:1903350 response to dopamine

Subcellular Location

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Domains

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DomainNameCategoryType
IPR006204 GHMP kinase N-terminal domainDomainDomain
IPR012887 L-fucokinaseDomainDomain
IPR013750 GHMP kinase, C-terminal domainDomainDomain
IPR020568 Ribosomal protein S5 domain 2-type foldFamilyHomologous superfamily
IPR036554 GHMP kinase, C-terminal domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
618324 OMIMCongenital disorder of glycosylation with defective fucosylation 2 (CDGF2)A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. CDGF2 is an autosomal recessive disorder, apparent from birth, characterized by hypotonia, poor feeding, severely impaired intellectual and psychomotor development, seizures with epileptic encephalopathy, visual impairment and other ocular features, respiratory difficulty with frequent infections, as well as contractures. Brain imaging shows cerebellar and brainstem atrophy, hypoplasia or agenesis of the corpus callosum, and white matter abnormalities including periventricular leukomalacia. The disease is caused by variants affecting the gene represented in this entry.

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
FCSK_HUMANTLX3_HUMANBioGRID, IntAct32296183 details
FCSK_HUMANPOGZ_HUMANBioGRID, IntAct32296183 details