Entity Details

Primary name ADA22_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9P0K1
EntryNameADA22_HUMAN
FullNameDisintegrin and metalloproteinase domain-containing protein 22
TaxID9606
Evidenceevidence at protein level
Length906
SequenceStatuscomplete
DateCreated2001-06-20
DateModified2021-06-02

Ontological Relatives

GenesADAM22

GO terms

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GOName
GO:0004222 metalloendopeptidase activity
GO:0005178 integrin binding
GO:0005886 plasma membrane
GO:0007155 cell adhesion
GO:0007162 negative regulation of cell adhesion
GO:0007417 central nervous system development
GO:0008344 adult locomotory behavior
GO:0016021 integral component of membrane
GO:0022011 myelination in peripheral nervous system
GO:0030424 axon
GO:0098978 glutamatergic synapse
GO:0099061 integral component of postsynaptic density membrane
GO:0099645 neurotransmitter receptor localization to postsynaptic specialization membrane

Subcellular Location

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Subcellular Location
Cell membrane
Cell projection

Domains

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DomainNameCategoryType
IPR000742 EGF-like domainDomainDomain
IPR001590 Peptidase M12B, ADAM/reprolysinDomainDomain
IPR001762 Disintegrin domainDomainDomain
IPR002870 Peptidase M12B, propeptideDomainDomain
IPR006586 ADAM, cysteine-rich domainDomainDomain
IPR013111 EGF-like domain, extracellularDomainDomain
IPR018358 Disintegrin, conserved siteSiteConserved site
IPR024079 Metallopeptidase, catalytic domain superfamilyFamilyHomologous superfamily
IPR034027 Reprolysin domain, adamalysin-typeDomainDomain
IPR036436 Disintegrin domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
617933 OMIMDevelopmental and epileptic encephalopathy 61 (DEE61)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. DEE61 is an autosomal recessive condition characterized by onset of seizures in infancy. The disease is caused by variants affecting the gene represented in this entry.