AP4B1

Last updated
AP4B1
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases AP4B1 , BETA-4, CPSQ5, SPG47, adaptor related protein complex 4 beta 1 subunit, adaptor related protein complex 4 subunit beta 1
External IDs OMIM: 607245; MGI: 1337130; HomoloGene: 38203; GeneCards: AP4B1; OMA:AP4B1 - orthologs
Orthologs
SpeciesHumanMouse
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
NP_001157025
NP_080469

Location (UCSC) Chr 1: 113.89 – 113.91 Mb Chr 3: 103.72 – 103.73 Mb
PubMed search [3] [4]
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. [5] [6]

Contents

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) [6]

Interactions

AP4B1 has been shown to interact with AP4M1. [7]

Clinical relevance

AP4-complex-mediated trafficking plays a crucial role in brain development and functioning. [8] [9]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000134262 Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000032952 Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 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.
  6. 1 2 "Entrez Gene: AP4B1 adaptor-related protein complex 4, beta 1 subunit".
  7. 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.
  8. 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.
  9. "Cerebral Palsy Linked to Genetic Abnormalities". medscape.

Further reading