Protein-coding gene in humans
AP4S1 |
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Identifiers |
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Aliases | AP4S1, AP47B, CLA20, CLAPS4, CPSQ6, SPG52, adaptor related protein complex 4 sigma 1 subunit, adaptor related protein complex 4 subunit sigma 1 |
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External IDs | OMIM: 607243; MGI: 1337065; HomoloGene: 32513; GeneCards: AP4S1; OMA:AP4S1 - orthologs |
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Gene location (Human) |
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| Chr. | Chromosome 14 (human)[1] |
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| Band | 14q12 | Start | 31,025,106 bp[1] |
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End | 31,130,996 bp[1] |
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Gene location (Mouse) |
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| Chr. | Chromosome 12 (mouse)[2] |
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| Band | 12|12 B3 | Start | 51,737,816 bp[2] |
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End | 51,791,569 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - endothelial cell
- Achilles tendon
- Brodmann area 23
- middle temporal gyrus
- prefrontal cortex
- primary visual cortex
- gonad
- epithelium of colon
- Brodmann area 9
- corpus callosum
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| Top expressed in | - intercostal muscle
- temporal muscle
- extensor digitorum longus muscle
- plantaris muscle
- sternocleidomastoid muscle
- interventricular septum
- digastric muscle
- triceps brachii muscle
- right ventricle
- myocardium of ventricle
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| More reference expression data |
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BioGPS | |
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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) | NM_001128126 NM_001254726 NM_001254727 NM_001254728 NM_001254729
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NM_007077 |
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NM_021710 NM_001329698 NM_001329699 |
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RefSeq (protein) | NP_001121598 NP_001241655 NP_001241656 NP_001241657 NP_001241658
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NP_009008 |
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NP_001316627 NP_001316628 NP_068356 |
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Location (UCSC) | Chr 14: 31.03 – 31.13 Mb | Chr 12: 51.74 – 51.79 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 sigma-1 is a protein that in humans is encoded by the AP4S1 gene.[5]
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) and epsilon-4 (AP4E1), a medium chain, mu-4 (AP4M1), and a small chain, sigma-4 (AP4S1, this gene).[5]
Clinical relevance
Deficiency of AP-4 leads to childhood-onset hereditary spastic paraplegia and it is currently hypothesized that AP4-complex-mediated trafficking plays a crucial role in brain development and functioning.[6]
See also
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000100478 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020955 – 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.
- ^ a b "Entrez Gene: adaptor-related protein complex 4".
- ^ 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 (May 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.
External links
Further reading
- Dell'Angelica EC, Mullins C, Bonifacino JS (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.
- 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.