Entity Details

Primary name FGGY_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ96C11
EntryNameFGGY_HUMAN
FullNameFGGY carbohydrate kinase domain-containing protein
TaxID9606
Evidenceevidence at protein level
Length551
SequenceStatuscomplete
DateCreated2008-03-18
DateModified2021-06-02

Ontological Relatives

GenesFGGY

GO terms

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GOName
GO:0019150 D-ribulokinase activity
GO:0019321 pentose metabolic process
GO:0046835 carbohydrate phosphorylation
GO:0070050 neuron cellular homeostasis

Subcellular Location

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Domains

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DomainNameCategoryType
IPR000577 Carbohydrate kinase, FGGYFamilyFamily
IPR006003 FGGY carbohydrate kinase, pentulose kinaseFamilyFamily
IPR018484 Carbohydrate kinase, FGGY, N-terminalDomainDomain
IPR018485 Carbohydrate kinase, FGGY, C-terminalDomainDomain
IPR043129 ATPase, nucleotide binding domainFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
105400 OMIMAmyotrophic lateral sclerosis 1 (ALS1)A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. Disease susceptibility is associated with variants affecting the gene represented in this entry.

Interactions

0 interactions

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