AP4M1

AP4M1
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
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3L81, 4MDR
Gene location (Human)
Chr.	Chromosome 7 (human)
End	100,110,345 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	138,178,691 bp
RNA expression pattern
	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
	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
	9179
	11781
	ENSG00000221838
	ENSMUSG00000019518
	O00189
	Q9JKC7
	NM_004722; NM_001363671
	NM_021392
	NP_004713; NP_001350600
	NP_067367
	Wikidata
View/Edit Human	View/Edit Mouse

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

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.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000221838 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000019518 – 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.
↑ Wang X, Kilimann MW (Feb 1997). "Identification of two new mu-adaptin-related proteins, mu-ARP1 and mu-ARP2". FEBS Lett. 402 (1): 57–61. doi:10.1016/S0014-5793(96)01500-1. PMID 9013859. S2CID 81844290.
↑ Dell'Angelica EC, Mullins C, Bonifacino JS (Apr 1999). "AP-4, a novel protein complex related to clathrin adaptors". J Biol Chem. 274 (11): 7278–85. doi:10.1074/jbc.274.11.7278. PMID 10066790.
1 2 "Entrez Gene: AP4M1 adaptor-related protein complex 4, mu 1 subunit".
↑ Hirst J, Bright NA, Rous B, Robinson MS (August 1999). "Characterization of a fourth adaptor-related protein complex". Mol. Biol. Cell. 10 (8): 2787–802. doi:10.1091/mbc.10.8.2787. PMC 25515. PMID 10436028.
↑ Abou Jamra R, Philippe O, Raas-Rothschild A, Eck SH, Graf E, Buchert R, Borck G, Ekici A, Brockschmidt FF, Nöthen MM, Munnich A, Strom TM, Reis A, Colleaux L (June 2011). "Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature". Am. J. Hum. Genet. 88 (6): 788–95. doi:10.1016/j.ajhg.2011.04.019. PMC 3113253. PMID 21620353.

External links

Human AP4M1 genome location and AP4M1 gene details page in the UCSC Genome Browser.
Overview of all the structural information available in the PDB for UniProt: O00189 (Human AP-4 complex subunit mu-1) at the PDBe-KB.

Stephens DJ, Banting G (1998). "Specificity of interaction between adaptor-complex medium chains and the tyrosine-based sorting motifs of TGN38 and lgp120". Biochem. J. 335 (Pt 3): 567–72. doi:10.1042/bj3350567. PMC 1219817. PMID 9794796.
Hirst J, Bright NA, Rous B, Robinson MS (1999). "Characterization of a Fourth Adaptor-related Protein Complex". Mol. Biol. Cell. 10 (8): 2787–802. doi:10.1091/mbc.10.8.2787. PMC 25515. PMID 10436028.
Aguilar RC, Boehm M, Gorshkova I, et al. (2001). "Signal-binding specificity of the mu4 subunit of the adaptor protein complex AP-4". J. Biol. Chem. 276 (16): 13145–52. doi:10.1074/jbc.M010591200. PMID 11139587.
Boehm M, Aguilar RC, Bonifacino JS (2002). "Functional and physical interactions of the adaptor protein complex AP-4 with ADP-ribosylation factors (ARFs)". EMBO J. 20 (22): 6265–76. doi:10.1093/emboj/20.22.6265. PMC 125733. PMID 11707398.
Simmen T, Höning S, Icking A, et al. (2002). "AP-4 binds basolateral signals and participates in basolateral sorting in epithelial MDCK cells". Nat. Cell Biol. 4 (2): 154–9. doi:10.1038/ncb745. PMID 11802162. S2CID 28781777.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Scherer SW, Cheung J, MacDonald JR, et al. (2003). "Human Chromosome 7: DNA Sequence and Biology". Science. 300 (5620): 767–72. Bibcode:2003Sci...300..767S. doi:10.1126/science.1083423. PMC 2882961. PMID 12690205.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.

This article on a gene on human chromosome 7 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000221838 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000019518 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9013859-5] Wang X, Kilimann MW (Feb 1997). "Identification of two new mu-adaptin-related proteins, mu-ARP1 and mu-ARP2". FEBS Lett. 402 (1): 57–61. doi:10.1016/S0014-5793(96)01500-1. PMID 9013859. S2CID 81844290.

[pmid10066790-6] Dell'Angelica EC, Mullins C, Bonifacino JS (Apr 1999). "AP-4, a novel protein complex related to clathrin adaptors". J Biol Chem. 274 (11): 7278–85. doi:10.1074/jbc.274.11.7278. PMID 10066790.

[entrez-7] 1 2 "Entrez Gene: AP4M1 adaptor-related protein complex 4, mu 1 subunit".

[pmid10436028-8] Hirst J, Bright NA, Rous B, Robinson MS (August 1999). "Characterization of a fourth adaptor-related protein complex". Mol. Biol. Cell. 10 (8): 2787–802. doi:10.1091/mbc.10.8.2787. PMC 25515. PMID 10436028.

[pmid21620353-9] Abou Jamra R, Philippe O, Raas-Rothschild A, Eck SH, Graf E, Buchert R, Borck G, Ekici A, Brockschmidt FF, Nöthen MM, Munnich A, Strom TM, Reis A, Colleaux L (June 2011). "Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature". Am. J. Hum. Genet. 88 (6): 788–95. doi:10.1016/j.ajhg.2011.04.019. PMC 3113253. PMID 21620353.

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