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词条 AP4B1
释义

  1. Function

  2. Interactions

  3. Clinical relevance

  4. References

  5. External links

  6. Further reading

{{Infobox_gene}}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][5]

References

1. ^{{cite journal |vauthors=Dell'Angelica EC, Mullins C, Bonifacino JS | title = AP-4, a novel protein complex related to clathrin adaptors | journal = J Biol Chem | volume = 274 | issue = 11 | pages = 7278–85 |date=Apr 1999 | pmid = 10066790 | pmc = | doi =10.1074/jbc.274.11.7278 }}
2. ^{{cite web | title = Entrez Gene: AP4B1 adaptor-related protein complex 4, beta 1 subunit| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10717| accessdate = }}
3. ^{{cite journal |vauthors=Hirst J, Bright NA, Rous B, Robinson MS | title = Characterization of a fourth adaptor-related protein complex | journal = Mol. Biol. Cell | volume = 10 | issue = 8 | pages = 2787–802 |date=August 1999 | pmid = 10436028 | pmc = 25515 | doi = 10.1091/mbc.10.8.2787}}
4. ^{{cite journal |vauthors=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 | title = Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature | journal = Am. J. Hum. Genet. | volume = 88 | issue = 6 | pages = 788–95 |date=June 2011 | pmid = 21620353 | pmc = 3113253 | doi = 10.1016/j.ajhg.2011.04.019 | url = }}
5. ^{{cite web|url=https://www.medscape.com/viewarticle/759007|title=Cerebral Palsy Linked to Genetic Abnormalities|publisher=medscape}}

External links

  • {{UCSC gene info|AP4B1}}

Further reading

{{refbegin | 2}}
  • {{cite journal |vauthors=Hirst J, Bright NA, Rous B, Robinson MS |title=Characterization of a fourth adaptor-related protein complex |journal=Mol. Biol. Cell |volume=10 |issue= 8 |pages= 2787–802 |year= 1999 |pmid= 10436028 |doi= 10.1091/mbc.10.8.2787| pmc=25515 }}
  • {{cite journal |vauthors=Takatsu H, Futatsumori M, Yoshino K |title=Similar subunit interactions contribute to assembly of clathrin adaptor complexes and COPI complex: analysis using yeast three-hybrid system |journal=Biochem. Biophys. Res. Commun. |volume=284 |issue= 4 |pages= 1083–9 |year= 2001 |pmid= 11409905 |doi= 10.1006/bbrc.2001.5081 |display-authors=etal}}
  • {{cite journal |vauthors=Cayrol C, Cougoule C, Wright M |title=The beta2-adaptin clathrin adaptor interacts with the mitotic checkpoint kinase BubR1 |journal=Biochem. Biophys. Res. Commun. |volume=298 |issue= 5 |pages= 720–30 |year= 2003 |pmid= 12419313 |doi=10.1016/S0006-291X(02)02522-6 }}
  • {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |display-authors=etal}}
  • {{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal}}
  • {{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |display-authors=etal}}
  • {{cite journal |vauthors=Rual JF, Venkatesan K, Hao T |title=Towards a proteome-scale map of the human protein-protein interaction network |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 |display-authors=etal}}
  • {{cite journal |vauthors=Gregory SG, Barlow KF, McLay KE |title=The DNA sequence and biological annotation of human chromosome 1 |journal=Nature |volume=441 |issue= 7091 |pages= 315–21 |year= 2006 |pmid= 16710414 |doi= 10.1038/nature04727 |display-authors=etal}}
  • {{cite journal |vauthors=Ewing RM, Chu P, Elisma F |title=Large-scale mapping of human protein-protein interactions by mass spectrometry |journal=Mol. Syst. Biol. |volume=3 |issue= 1|pages= 89 |year= 2007 |pmid= 17353931 |doi= 10.1038/msb4100134 | pmc=1847948 |display-authors=etal}}
{{refend}}{{gene-1-stub}}
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