AP4B1

AP4B1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2MJ7
Identifiers
Aliases	AP4B1, BETA-4, CPSQ5, SPG47, adaptor related protein complex 4 beta 1 subunit, adaptor related protein complex 4 subunit beta 1
External IDs	MGI: 1337130 HomoloGene: 38203 GeneCards: AP4B1
Gene location (Human)
Chr.	Chromosome 1 (human)[1]
End	113,905,201 bp[1]
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)[2]
End	103,822,025 bp[2]
Gene ontology
Molecular function	• protein binding; • clathrin binding;
Cellular component	• membrane coat; • Golgi apparatus; • trans-Golgi network membrane; • endosome lumen; • membrane; • clathrin adaptor complex; • trans-Golgi network; • cytosol; • extrinsic component of membrane; • AP-4 adaptor complex;
Biological process	• protein transport; • intracellular protein transport; • vesicle-mediated transport; • protein targeting; • protein localization;
	Sources:Amigo / QuickGO
Orthologs
	10717
	67489
	ENSG00000134262
	ENSMUSG00000032952
	Q9Y6B7
	Q9WV76
	NM_001253852; NM_001253853; NM_001308312; NM_006594
	NM_001163552; NM_001163553; NM_026193
	NP_001240781; NP_001240782; NP_001295241; NP_006585
	NP_001157024; NP_001157025; NP_080469
	Wikidata
View/Edit Human	View/Edit Mouse

AP-4 complex subunit beta-1 is a protein that in humans is encoded by the AP4B1 gene.^[5]^[6]

Function

The heterotetrameric adaptor protein (AP) complexes sort integral membrane proteins at various stages of the endocytic and secretory pathways. AP4 is composed of 2 large chains, beta-4 (AP4B1, this protein) and epsilon-4 (AP4E1), a medium chain, mu-4 (AP4M1), and a small chain, sigma-4 (AP4S1)^[6]

Interactions

AP4B1 has been shown to interact with AP4M1.^[7]

Clinical relevance

AP4-complex-mediated trafficking plays a crucial role in brain development and functioning.^[8]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000134262 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000032952 - Ensembl, May 2017
↑ "Human PubMed Reference:".
↑ "Mouse PubMed Reference:".
↑ 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: AP4B1 adaptor-related protein complex 4, beta 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 AP4B1 genome location and AP4B1 gene details page in the UCSC Genome Browser.

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.
Takatsu H, Futatsumori M, Yoshino K, et al. (2001). "Similar subunit interactions contribute to assembly of clathrin adaptor complexes and COPI complex: analysis using yeast three-hybrid system". Biochem. Biophys. Res. Commun. 284 (4): 1083–9. doi:10.1006/bbrc.2001.5081. PMID 11409905.
Cayrol C, Cougoule C, Wright M (2003). "The beta2-adaptin clathrin adaptor interacts with the mitotic checkpoint kinase BubR1". Biochem. Biophys. Res. Commun. 298 (5): 720–30. doi:10.1016/S0006-291X(02)02522-6. PMID 12419313.
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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
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.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. doi:10.1038/nature04727. PMID 16710414.
Ewing RM, Chu P, Elisma F, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000134262 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000032952 - Ensembl, May 2017

[3] "Human PubMed Reference:".

[4] "Mouse PubMed Reference:".

[pmid10066790-5] 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-6] 1 2 "Entrez Gene: AP4B1 adaptor-related protein complex 4, beta 1 subunit".

[pmid10436028-7] 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.

[pmid21620353-8] 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.