Entity Details

Primary name AP5Z1
Entity type gene
Source Source Link

Details

PrimaryID9907
RefseqGeneNG_028111
SymbolAP5Z1
Nameadaptor related protein complex 5 subunit zeta 1
Chromosome7
Location7p22.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-11-30
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsAP5Z1_HUMAN

GO terms

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GOName
GO:0000724 double-strand break repair via homologous recombination
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0015031 protein transport
GO:0016197 endosomal transport
GO:0016607 nuclear speck
GO:0030119 AP-type membrane coat adaptor complex
GO:0044599 AP-5 adaptor complex

Diseases

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Disease IDSourceNameDescription
613647 OMIMSpastic paraplegia 48, autosomal recessive (SPG48)A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. The disease is caused by variants affecting the gene represented in this entry.

Interactions

8 interactions

InteractorPartnerSourcesPublicationsLink
AP5Z1MDFIBioGRID, HPRD, IntAct16189514 details
AP5Z1NUP93BioGRID, IntAct32296183 details
AP5Z1YWHABMINT15324660 details
AP5Z1IRF2BioGRID, IntAct21903422 details
AP5Z1FOXK1BioGRID, MINT25609649 details
AP5Z1LYPD4BioGRID, IntAct28514442 details
AP5Z1RIN3BioGRID32552912 details
AP5Z1DDX58BioGRID32513696 details