AP4B1

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AP4B1
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases AP4B1, BETA-4, CPSQ5, SPG47, adaptor related protein complex 4 beta 1 subunit
External IDs MGI: 1337130 HomoloGene: 38203 GeneCards: AP4B1
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001253852
NM_001253853
NM_001308312
NM_006594

NM_001163552
NM_001163553
NM_026193

RefSeq (protein)

NP_001240781
NP_001240782
NP_001295241
NP_006585

NP_001157024.1
NP_080469.2
NP_001157024
NP_001157025
NP_080469

Location (UCSC) Chr 1: 113.89 – 113.91 Mb Chr 3: 103.81 – 103.82 Mb
PubMed search [1] [2]
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.[3][4]

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)[4]

Interactions[edit]

AP4B1 has been shown to interact with AP4M1.[5]

Clinical relevance[edit]

AP4-complex-mediated trafficking plays a crucial role in brain development and functioning.[6]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ a b "Entrez Gene: AP4B1 adaptor-related protein complex 4, beta 1 subunit". 
  5. ^ 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 25515Freely accessible. PMID 10436028. 
  6. ^ 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 3113253Freely accessible. PMID 21620353. 

External links[edit]

Further reading[edit]