AP4B1
From Wikipedia, the free encyclopedia
| Adaptor-related protein complex 4, beta 1 subunit | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | AP4B1; BETA-4 | ||||||||||||
| External IDs | OMIM: 607245 MGI: 1337130 HomoloGene: 38203 GeneCards: AP4B1 Gene | ||||||||||||
|
|||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 10717 | 67489 | |||||||||||
| Ensembl | ENSG00000134262 | ENSMUSG00000032952 | |||||||||||
| UniProt | Q9Y6B7 | Q7TMS3 | |||||||||||
| RefSeq (mRNA) | NM_006594 | NM_026193 | |||||||||||
| RefSeq (protein) | NP_006585 | NP_080469 | |||||||||||
| Location (UCSC) | Chr 1: 114.44 – 114.45 Mb |
Chr 3: 103.61 – 103.63 Mb |
|||||||||||
| PubMed search | [1] | [2] | |||||||||||
AP-4 complex subunit beta-1 is a protein that in humans is encoded by the AP4B1 gene.[1][2]
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) and epsilon-4 (AP4E1; MIM 607244), a medium chain, mu-4 (AP4M1; MIM 602296), and a small chain, sigma-4 (AP4S1; MIM 607243).[supplied by OMIM][2]
Contents |
[edit] Interactions
AP4B1 has been shown to interact with AP4M1.[3]
[edit] Clinical relevance
It is currently hypothesized that AP4-complex-mediated trafficking plays a crucial role in brain development and functioning.[4]
[edit] 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.
- ^ a b "Entrez Gene: AP4B1 adaptor-related protein complex 4, beta 1 subunit". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10717.
- ^ Hirst, J; Bright N A, Rous B, Robinson M S (Aug. 1999). "Characterization of a fourth adaptor-related protein complex". Mol. Biol. Cell (UNITED STATES) 10 (8): 2787–802. ISSN 1059-1524. PMC 25515. PMID 10436028. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=25515.
- ^ 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 (2011 May 25). "Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature.". American journal of human genetics 88 (6): 788–95. doi:10.1016/j.ajhg.2011.04.019. PMC 3113253. PMID 21620353. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=3113253.
[edit] 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. PMC 25515. PMID 10436028. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=25515.
- 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
- 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928.
- 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1847948.
 |
This article on a gene on chromosome 1 is a stub. You can help Wikipedia by expanding it. |
