Entity Details

Primary name AFG2H_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8NB90
EntryNameAFG2H_HUMAN
FullNameATPase family protein 2 homolog
TaxID9606
Evidenceevidence at protein level
Length893
SequenceStatuscomplete
DateCreated2008-04-29
DateModified2021-06-02

Ontological Relatives

GenesSPATA5

GO terms

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GOName
GO:0005524 ATP binding
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005819 spindle
GO:0007283 spermatogenesis
GO:0007420 brain development
GO:0016887 ATP hydrolysis activity
GO:0030154 cell differentiation

Subcellular Location

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Subcellular Location
Cytoplasm
Mitochondrion

Domains

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DomainNameCategoryType
IPR003593 AAA+ ATPase domainDomainDomain
IPR003959 ATPase, AAA-type, coreDomainDomain
IPR003960 ATPase, AAA-type, conserved siteSiteConserved site
IPR009010 Aspartate decarboxylase-like domain superfamilyFamilyHomologous superfamily
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily
IPR041569 AAA ATPase, AAA+ lid domainDomainDomain

Diseases

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Disease IDSourceNameDescription
616577 OMIMEpilepsy, hearing loss, and mental retardation syndrome (EHLMRS)An autosomal recessive disorder characterized by intellectual disability, intractable epilepsy, microcephaly, abnormal muscle tone, and sensorineural hearing loss. The disease is caused by variants affecting the gene represented in this entry.