AP4S1 | |||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||
Aliases | AP4S1 , AP47B, CLA20, CLAPS4, CPSQ6, SPG52, adaptor related protein complex 4 sigma 1 subunit, adaptor related protein complex 4 subunit sigma 1 | ||||||||||||||||||||||||
External IDs | OMIM: 607243 MGI: 1337065 HomoloGene: 32513 GeneCards: AP4S1 | ||||||||||||||||||||||||
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Orthologs | |||||||||||||||||||||||||
Species | Human | Mouse | |||||||||||||||||||||||
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Ensembl | |||||||||||||||||||||||||
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RefSeq (mRNA) |
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RefSeq (protein) |
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Location (UCSC) | Chr 14: 31.03 – 31.13 Mb | Chr 12: 51.69 – 51.74 Mb | |||||||||||||||||||||||
PubMed search | [3] | [4] | |||||||||||||||||||||||
Wikidata | |||||||||||||||||||||||||
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AP-4 complex subunit sigma-1 is a protein that in humans is encoded by the AP4S1 gene. [5]
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]
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]
AP-2 complex subunit mu is a protein that in humans is encoded by the AP2M1 gene.
AP-2 complex subunit alpha-1 is a protein that in humans is encoded by the AP2A1 gene.
Clathrin heavy chain 1 is a protein that in humans is encoded by the CLTC gene.
Atlastin, or Atlastin-1, is a protein that in humans is encoded by the ATL1 gene.
AP-1 complex subunit beta-1 is a protein that in humans is encoded by the AP1B1 gene.
AP-1 complex subunit sigma-1A is a protein that in humans is encoded by the AP1S1 gene.
AP-1 complex subunit gamma-like 2 is a protein that in humans is encoded by the AP1G2 gene.
AP-3 complex subunit mu-1 is a protein that in humans is encoded by the AP3M1 gene.
AP-1 complex subunit sigma-2 is a protein that in humans is encoded by the AP1S2 gene.
Kinesin heavy chain isoform 5A is a protein that in humans is encoded by the KIF5A gene.
AP-3 complex subunit sigma-2 is a protein that in humans is encoded by the AP3S2 gene.
Epsin-2 is a protein that in humans is encoded by the EPN2 gene.
AP-2 complex subunit sigma is a protein that in humans is encoded by the AP2S1 gene.
AP-3 complex subunit sigma-1 is a protein that in humans is encoded by the AP3S1 gene.
AP-3 complex subunit beta-2 is a protein that in humans is encoded by the AP3B2 gene.
AP-4 complex subunit beta-1 is a protein that in humans is encoded by the AP4B1 gene.
AP-4 complex subunit mu-1 is a protein that in humans is encoded by the AP4M1 gene.
Phenylalanyl-tRNA synthetase, mitochondrial (FARS2) is an enzyme that in humans is encoded by the FARS2 gene. This protein encoded by FARS2 localizes to the mitochondrion and plays a role in mitochondrial protein translation. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 14, also known as Alpers encephalopathy, as well as spastic paraplegia 77 and infantile-onset epilepsy and cytochrome c oxidase deficiency.
Aldehyde dehydrogenase 16 family, member A1 also known as ALDH16A1 is an aldehyde dehydrogenase gene.
AP-4 complex subunit epsilon-1 is a protein that in humans is encoded by the AP4E1 gene.