AP4B1
| Adaptor-related protein complex 4, beta 1 subunit | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | AP4B1 ; BETA-4; CPSQ5; SPG47 | ||||||||||||
| External IDs | OMIM: 607245 MGI: 1337130 HomoloGene: 38203 GeneCards: AP4B1 Gene | ||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 10717 | 67489 | |||||||||||
| Ensembl | ENSG00000134262 | ENSMUSG00000032952 | |||||||||||
| UniProt | Q9Y6B7 | Q9WV76 | |||||||||||
| RefSeq (mRNA) | NM_001253852 | NM_001163552 | |||||||||||
| RefSeq (protein) | NP_001240781 | NP_001157024 | |||||||||||
| Location (UCSC) | Chr 1: 114.44 – 114.45 Mb | Chr 3: 103.81 – 103.82 Mb | |||||||||||
| PubMed search | |||||||||||||
AP-4 complex subunit beta-1 is a protein that in humans is encoded by the AP4B1 gene.[1][2]
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)[2]
Interactions
AP4B1 has been shown to interact with AP4M1.[3]
Clinical relevance
AP4-complex-mediated trafficking plays a crucial role in brain development and functioning.[4]
References
- ↑ 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.
- ↑ 2.0 2.1 "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.
Further reading
- 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.