AP4S1
| AP4S1 | ||||||
|---|---|---|---|---|---|---|
| Identifiers | ||||||
Ensembl | ||||||
| UniProt | ||||||
| RefSeq (mRNA) |
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| RefSeq (protein) |
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| Location (UCSC) | Chr 14: 31.03 – 31.13 Mb | Chr 12: 51.74 – 51.79 Mb | ||||
| PubMed search | [3] | [4] | ||||
| View/Edit Human | View/Edit Mouse |
AP-4 complex subunit sigma-1 is a protein that in humans is encoded by the AP4S1 gene.[5]
Function
The
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".
- PMID 21620353.
External links
- Human AP4S1 genome location and AP4S1 gene details page in the UCSC Genome Browser.
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. 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. PMID 10436028.