Protein-coding gene in the species Homo sapiens
AP4B1 |
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Available structures |
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PDB | Ortholog search: PDBe RCSB |
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Identifiers |
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Aliases | AP4B1, BETA-4, CPSQ5, SPG47, adaptor related protein complex 4 beta 1 subunit, adaptor related protein complex 4 subunit beta 1 |
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External IDs | OMIM: 607245; MGI: 1337130; HomoloGene: 38203; GeneCards: AP4B1; OMA:AP4B1 - orthologs |
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Gene location (Human) |
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| Chr. | Chromosome 1 (human)[1] |
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| Band | 1p13.2 | Start | 113,894,194 bp[1] |
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End | 113,905,201 bp[1] |
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Gene location (Mouse) |
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| Chr. | Chromosome 3 (mouse)[2] |
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| Band | 3|3 F2.2 | Start | 103,716,836 bp[2] |
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End | 103,729,341 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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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
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| Top expressed in | - spermatocyte
- spermatid
- bone marrow
- granulocyte
- testicle
- proximal tubule
- ganglionic eminence
- liver
- right kidney
- quadriceps femoris muscle
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| More reference expression data |
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BioGPS | |
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Gene ontology |
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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 |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | |
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NM_001253852 NM_001253853 NM_001308312 NM_006594 |
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NM_001163552 NM_001163553 NM_026193 |
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RefSeq (protein) | |
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NP_001240781 NP_001240782 NP_001295241 NP_006585 |
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NP_001157024 NP_001157025 NP_080469 |
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Location (UCSC) | Chr 1: 113.89 – 113.91 Mb | Chr 3: 103.72 – 103.73 Mb |
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PubMed search | [3] | [4] |
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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
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.