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)
End	31,130,996 bp
Gene location (Mouse)
Chr.	Chromosome 12 (mouse)
End	51,791,569 bp
RNA expression pattern
	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
	n/a
Orthologs
	11154
	11782
	ENSG00000100478
	ENSMUSG00000020955
	Q9Y587
	Q9WVL1
NM_001128126; NM_001254726; NM_001254727; NM_001254728; NM_001254729;
	NM_007077
	NM_021710; NM_001329698; NM_001329699
NP_001121598; NP_001241655; NP_001241656; NP_001241657; NP_001241658;
	NP_009008
	NP_001316627; NP_001316628; NP_068356
	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]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000100478 – Ensembl, May 2017
1 2 3 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.
1 2 "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

Human AP4S1 genome location and AP4S1 gene details page in the UCSC Genome Browser.

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AP4S1

Function

Clinical relevance

See also

References

External links

Further reading