AP4B1

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Adaptor-related protein complex 4, beta 1 subunit
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols AP4B1 ; BETA-4; CPSQ5; SPG47
External IDs OMIM607245 MGI1337130 HomoloGene38203 GeneCards: AP4B1 Gene
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 [1] [2]

AP-4 complex subunit beta-1 is a protein that in humans is encoded by the AP4B1 gene.[1][2]

Function[edit]

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[edit]

AP4B1 has been shown to interact with AP4M1.[3]

Clinical relevance[edit]

AP4-complex-mediated trafficking plays a crucial role in brain development and functioning.[4]

References[edit]

  1. ^ 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. ^ a b "Entrez Gene: AP4B1 adaptor-related protein complex 4, beta 1 subunit". 
  3. ^ 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. 
  4. ^ 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[edit]