AP5Z1

AP5Z1
Identifiers
Aliases	AP5Z1, KIAA0415, SPG48, zeta, adaptor related protein complex 5 zeta 1 subunit, adaptor related protein complex 5 subunit zeta 1
External IDs	OMIM: 613653 MGI: 1924908 HomoloGene: 18213 GeneCards: AP5Z1
Gene location (Human)
Chr.	Chromosome 7 (human)[1]
End	4,794,397 bp[1]
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)[2]
End	142,464,465 bp[2]
RNA expression pattern
	Top expressed in
	spleen; ; left adrenal gland; ; sural nerve; ; skin of abdomen; ; body of stomach; ; anterior pituitary; ; gastric mucosa; ; blood; ; upper lobe of left lung; ; stromal cell of endometrium;
	Top expressed in
	yolk sac; ; Paneth cell; ; calvaria; ; fossa; ; proximal tubule; ; lip; ; carotid body; ; jejunum; ; condyle; ; superior frontal gyrus;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding;
Cellular component	cytoplasm; AP-5 adaptor complex; AP-type membrane coat adaptor complex; nucleus; nucleoplasm; nuclear speck;
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
	9907
	231855
	ENSG00000242802
	ENSMUSG00000039623
	O43299
	Q3U829
	NM_014855; NM_001364858
	NM_172725
	NP_055670; NP_001351787
	NP_766313
	Wikidata
View/Edit Human	View/Edit Mouse

AP-5 complex subunit zeta (AP5Z1) is a protein that in humans is encoded by the AP5Z1 gene.[5]

Function

The protein encoded by this gene is one of two large subunits of the AP5 adaptor complex. Damaging variants in this gene are associated with SPG48, a type of hereditary spastic paraplegia.[6][7]

GRCh38: Ensembl release 89: ENSG00000242802 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000039623 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
Hirst, Jennifer; Barlow, Lael D.; Francisco, Gabriel Casey; Sahlender, Daniela A.; Seaman, Matthew N. J.; Dacks, Joel B.; Robinson, Margaret S. (2011-10-11). "The fifth adaptor protein complex". PLOS Biology. 9 (10): e1001170. doi:10.1371/journal.pbio.1001170. ISSN 1545-7885. PMC 3191125. PMID 22022230.
Słabicki, Mikołaj; Theis, Mirko; Krastev, Dragomir B.; Samsonov, Sergey; Mundwiller, Emeline; Junqueira, Magno; Paszkowski-Rogacz, Maciej; Teyra, Joan; Heninger, Anne-Kristin; Poser, Ina; Prieur, Fabienne (2010-06-29). "A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia". PLOS Biology. 8 (6): e1000408. doi:10.1371/journal.pbio.1000408. ISSN 1545-7885. PMC 2893954. PMID 20613862.
Hirst, Jennifer; Madeo, Marianna; Smets, Katrien; Edgar, James R.; Schols, Ludger; Li, Jun; Yarrow, Anna; Deconinck, Tine; Baets, Jonathan; Van Aken, Elisabeth; De Bleecker, Jan (2016-08-25). "Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)". Neurology. Genetics. 2 (5): e98. doi:10.1212/NXG.0000000000000098. ISSN 2376-7839. PMC 5001803. PMID 27606357.

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