AP4B1

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AP4B1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesAP4B1, BETA-4, CPSQ5, SPG47, adaptor related protein complex 4 beta 1 subunit, adaptor related protein complex 4 subunit beta 1
External IDsOMIM: 607245 MGI: 1337130 HomoloGene: 38203 GeneCards: AP4B1
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for AP4B1
Genomic location for AP4B1
Band1p13.2Start113,894,194 bp[1]
End113,905,201 bp[1]
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 MbChr 3: 103.81 – 103.82 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

AP-4 complex subunit beta-1 is a protein that in humans is encoded by the AP4B1 gene.[5][6]

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)[6]

Interactions[edit]

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

Clinical relevance[edit]

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

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000134262 - Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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.

External links[edit]

  • Human AP4B1 genome location and AP4B1 gene details page in the UCSC Genome Browser.
  • PDBe-KB provides an overview of all the structure information available in the PDB for Human AP-4 complex subunit beta-1

Further reading[edit]