Entity Details

Primary name GUF1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8N442
EntryNameGUF1_HUMAN
FullNameTranslation factor GUF1, mitochondrial
TaxID9606
Evidenceevidence at transcript level
Length669
SequenceStatuscomplete
DateCreated2006-10-31
DateModified2021-06-02

Ontological Relatives

GenesGUF1

GO terms

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GOName
GO:0003924 GTPase activity
GO:0005525 GTP binding
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005759 mitochondrial matrix
GO:0006412 translation
GO:0043022 ribosome binding
GO:0045727 positive regulation of translation

Subcellular Location

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Subcellular Location
Mitochondrion inner membrane

Domains

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DomainNameCategoryType
IPR000640 Elongation factor EFG, domain V-likeDomainDomain
IPR000795 Translational (tr)-type GTP-binding domainDomainDomain
IPR004161 Translation elongation factor EFTu-like, domain 2DomainDomain
IPR005225 Small GTP-binding protein domainDomainDomain
IPR006297 Elongation factor 4FamilyFamily
IPR009000 Translation protein, beta-barrel domain superfamilyFamilyHomologous superfamily
IPR013842 GTP-binding protein LepA, C-terminalDomainDomain
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily
IPR031157 Tr-type G domain, conserved siteSiteConserved site
IPR035647 EF-G domain III/V-likeFamilyHomologous superfamily
IPR035654 Elongation factor 4, domain IVDomainDomain
IPR038363 LepA, C-terminal domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
617065 OMIMDevelopmental and epileptic encephalopathy 40 (DEE40)A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE40 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.

Interactions

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