AP4B1

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)
End	113,905,201 bp
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)
End	103,729,341 bp
RNA expression pattern
	Top expressed in
	cerebellar hemisphere; ; thymus; ; rectum; ; spleen; ; body of pancreas; ; right uterine tube; ; pancreatic epithelial cell; ; lymph node; ; appendix; ; pituitary gland;
	Top expressed in
	spermatocyte; ; spermatid; ; bone marrow; ; testicle; ; proximal tubule; ; ganglionic eminence; ; liver; ; quadriceps femoris muscle; ; ileum; ; heart;
	More reference expression data
	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
	10717
	67489
	ENSG00000134262
	ENSMUSG00000032952
	Q9Y6B7
	Q9WV76
	NM_001253852; NM_001253853; NM_001308312; NM_006594
	NM_001163552; NM_001163553; NM_026193
	NP_001240781; NP_001240782; NP_001295241; NP_006585
	NP_001157024; NP_001157025; NP_080469
	Wikidata
View/Edit Human	View/Edit Mouse

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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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000134262 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000032952 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ ^a ^b "Entrez Gene: AP4B1 adaptor-related protein complex 4, beta 1 subunit".
^ 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.
^ 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.
^ "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

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.

This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000134262 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid10066790-5] 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.

[entrez-6] "Entrez Gene: AP4B1 adaptor-related protein complex 4, beta 1 subunit".

[pmid10436028-7] 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.

[pmid21620353-8] 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.

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Function

Interactions

Clinical relevance

References

External links

Further reading