AP4B1

Protein-coding gene in the species Homo sapiens
AP4B1
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

2MJ7

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; OMA:AP4B1 - orthologs
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]
Gene location (Mouse)
Chromosome 3 (mouse)
Chr.Chromosome 3 (mouse)[2]
Chromosome 3 (mouse)
Genomic location for AP4B1
Genomic location for AP4B1
Band3|3 F2.2Start103,716,836 bp[2]
End103,729,341 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • granulocyte

  • cerebellar hemisphere

  • right hemisphere of cerebellum

  • thymus

  • rectum

  • spleen

  • body of pancreas

  • mucosa of ileum

  • right uterine tube

  • pancreatic epithelial cell
Top expressed in
  • spermatocyte

  • spermatid

  • bone marrow

  • granulocyte

  • testicle

  • proximal tubule

  • ganglionic eminence

  • liver

  • right kidney

  • quadriceps femoris muscle
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • protein binding
  • clathrin binding
Cellular component
  • membrane coat
  • Golgi apparatus
  • trans-Golgi network membrane
  • endosome lumen
  • membrane
  • clathrin adaptor complex
  • trans-Golgi network
  • cytosol
  • extrinsic component of membrane
  • AP-4 adaptor complex
Biological process
  • protein transport
  • intracellular protein transport
  • vesicle-mediated transport
  • protein targeting
  • protein localization
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

10717

67489

Ensembl

ENSG00000134262

ENSMUSG00000032952

UniProt

Q9Y6B7

Q9WV76

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: 103.72 – 103.73 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

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. ^ 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

  • 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

  • Hirst J, Bright NA, Rous B, Robinson MS (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.
  • Takatsu H, Futatsumori M, Yoshino K, et al. (2001). "Similar subunit interactions contribute to assembly of clathrin adaptor complexes and COPI complex: analysis using yeast three-hybrid system". Biochem. Biophys. Res. Commun. 284 (4): 1083–9. doi:10.1006/bbrc.2001.5081. PMID 11409905.
  • Cayrol C, Cougoule C, Wright M (2003). "The beta2-adaptin clathrin adaptor interacts with the mitotic checkpoint kinase BubR1". Biochem. Biophys. Res. Commun. 298 (5): 720–30. doi:10.1016/S0006-291X(02)02522-6. PMID 12419313.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
  • Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. Bibcode:2006Natur.441..315G. doi:10.1038/nature04727. PMID 16710414.
  • Ewing RM, Chu P, Elisma F, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.
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