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
Gene location (Human)
Chr.	Chromosome 14 (human)
End	31,130,996 bp
Gene location (Mouse)
Chr.	Chromosome 12 (mouse)
End	51,744,786 bp
RNA expression pattern
	Top expressed in
	Achilles tendon; ; caudate nucleus; ; testicle; ; Brodmann area 23; ; corpus callosum; ; prefrontal cortex; ; Brodmann area 9;
	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

Last updated December 03, 2021

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]

Related Research Articles

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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.

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 .

AP4S1

Contents

Function

Clinical relevance

See also

Related Research Articles

References

External links

Further reading