AP4M1

AP-4 complex subunit mu-1 is a protein that in humans is encoded by the AP4M1 gene.^[5][6][7]

AP4M1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3L81, 4MDR
Identifiers
Aliases	AP4M1, CPSQ3, MU-4, MU-ARP2, SPG50, adaptor related protein complex 4 mu 1 subunit, adaptor related protein complex 4 subunit mu 1
External IDs	OMIM: 602296; MGI: 1337063; HomoloGene: 3467; GeneCards: AP4M1; OMA:AP4M1 - orthologs
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7q22.1 Start 100,101,549 bp[1] End 100,110,345 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5|5 G2 Start 138,170,264 bp[2] End 138,178,691 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in left testis right testis right uterine tube anterior pituitary stromal cell of endometrium body of uterus muscle layer of sigmoid colon right lobe of thyroid gland ganglionic eminence Descending thoracic aorta Top expressed in spermatid spermatocyte ventricular zone genital tubercle lip yolk sac tail of embryo neural layer of retina seminiferous tubule muscle of thigh More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding protein domain specific binding Cellular component trans-Golgi network endosome Golgi apparatus trans-Golgi network membrane endosome lumen extracellular exosome clathrin adaptor complex cytosol early endosome AP-4 adaptor complex membrane Biological process Golgi to endosome transport protein transport intracellular protein transport transport protein targeting protein targeting to lysosome vesicle-mediated transport Golgi to lysosome transport protein localization to basolateral plasma membrane protein localization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9179 11781 Ensembl ENSG00000221838 ENSMUSG00000019518 UniProt O00189 Q9JKC7 RefSeq (mRNA) NM_004722 NM_001363671 NM_021392 RefSeq (protein) NP_004713 NP_001350600 NP_067367 Location (UCSC) Chr 7: 100.1 – 100.11 Mb Chr 5: 138.17 – 138.18 Mb PubMed search [3] [4]
Wikidata
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Function

This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to the adaptor complexes medium subunits family. This AP-4 complex is involved in the recognition and sorting of cargo proteins with tyrosine-based motifs from the trans-golgi network to the endosomal-lysosomal system.^[7]

Interactions

AP4M1 has been shown to interact with AP4B1.^[8]

Clinical relevance

The AP4-complex-mediated trafficking plays a crucial role in brain development and functioning.^[9] Mutations of the gene cause spastic paraplegia 50, one of the many subtypes of spastic paraplegia.