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AP4B1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2MJ7
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
Gene location (Human) Chr. Chromosome 1 (human) Band 1p13.2 Start 113,894,194 bp End 113,905,201 bp
Gene location (Mouse) Chr. Chromosome 3 (mouse) Band 3|3 F2.2 Start 103,716,836 bp End 103,729,341 bp
RNA expression pattern Bgee Human Mouse (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 Species Human Mouse 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 Mb Chr 3: 103.72 – 103.73 Mb PubMed search
Wikidata
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AP-4 complex subunit beta-1 is a protein that in humans is encoded by the AP4B1 gene.

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)

Interactions

AP4B1 has been shown to interact with AP4M1.

Clinical relevance

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

References

1. ^ GRCh38: Ensembl release 89: ENSG00000134262 – Ensembl, May 2017
2. ^ 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. ^ "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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