en 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

^ ^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

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

AP4S1

Function

Clinical relevance

See also

References

External links

Further reading