AP4S1

AP4S1
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; OMA:AP4S1 - orthologs
Gene location (Human) Chr. Chromosome 14 (human) [1] Band 14q12 Start 31,025,106 bp [1] End 31,130,996 bp [1]
Gene location (Mouse) Chr. Chromosome 12 (mouse) [2] Band 12|12 B3 Start 51,737,816 bp [2] End 51,791,569 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 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 More reference expression data BioGPS n/a
Orthologs Species Human Mouse Entrez 11154 11782 Ensembl ENSG00000100478 ENSMUSG00000020955 UniProt Q9Y587 Q9WVL1 RefSeq (mRNA) NM_001128126 NM_001254726 NM_001254727 NM_001254728 NM_001254729 NM_007077 NM_021710 NM_001329698 NM_001329699 RefSeq (protein) NP_001121598 NP_001241655 NP_001241656 NP_001241657 NP_001241658 NP_009008 NP_001316627 NP_001316628 NP_068356 Location (UCSC) Chr 14: 31.03 – 31.13 Mb Chr 12: 51.74 – 51.79 Mb PubMed search [3] [4]
Wikidata
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 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

• AP2 adaptor complex

References

1. GRCh38: Ensembl release 89: ENSG00000100478 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000020955 – 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.
5. "Entrez Gene: adaptor-related protein complex 4".
6. 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

• 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. 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.