AP5S1

AP-5 complex subunit sigma (AP5S1) is a protein that in humans is encoded by the AP5S1 gene.^[5]

AP5S1
Identifiers
Aliases	AP5S1, C20orf29, adaptor related protein complex 5 sigma 1 subunit, adaptor related protein complex 5 subunit sigma 1
External IDs	OMIM: 614824; MGI: 1916846; HomoloGene: 23095; GeneCards: AP5S1; OMA:AP5S1 - orthologs
Gene location (Human) Chr. Chromosome 20 (human)[1] Band 20p13 Start 3,820,524 bp[1] End 3,828,838 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 F1 Start 131,048,998 bp[2] End 131,055,434 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gonad biceps brachii Skeletal muscle tissue of biceps brachii muscle of thigh vastus lateralis muscle apex of heart gastrocnemius muscle pancreatic ductal cell right adrenal cortex stromal cell of endometrium Top expressed in muscle of thigh right kidney crypt of lieberkuhn of small intestine masseter muscle fetal liver hematopoietic progenitor cell granulocyte left lobe of liver jejunum duodenum tibiofemoral joint More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding Cellular component lysosomal membrane endosome late endosome lysosome AP-type membrane coat adaptor complex membrane late endosome membrane nucleoplasm cytoplasm cytosol Biological process protein transport endosomal transport double-strand break repair via homologous recombination DNA repair cellular response to DNA damage stimulus Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 55317 69596 Ensembl ENSG00000125843 ENSMUSG00000068264 UniProt Q9NUS5 Q9D742 RefSeq (mRNA) NM_018347 NM_001204446 NM_001204447 NM_001291031 NM_001291032 NM_027129 NM_001355593 RefSeq (protein) NP_001191375 NP_001191376 NP_060817 NP_001277960 NP_001277961 NP_081405 NP_001342522 Location (UCSC) Chr 20: 3.82 – 3.83 Mb Chr 2: 131.05 – 131.06 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Function

The protein encoded by this gene is the small subunit of the AP5 adaptor complex.^[6] Variants in this gene have not been implicated in any disease but damaging variants in AP5Z1, the gene encoding one of the large subunits in this complex, are associated with SPG48, a type of hereditary spastic paraplegia.^[7][8] In addition, damaging variants in the genes encoding two proteins that stably associate with the AP-5 adaptor complex are also associated with forms of hereditary spastic paraplegia - SPG11 with the disease of the same name^[9] and ZFYVE26 with SPG15.^[10]