AP4S1

Last updated
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
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_021710
NM_001329698
NM_001329699

RefSeq (protein)

NP_001316627
NP_001316628
NP_068356

Location (UCSC) Chr 14: 31.03 – 31.13 Mb Chr 12: 51.69 – 51.74 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]

Contents

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

Related Research Articles

AP2M1

AP-2 complex subunit mu is a protein that in humans is encoded by the AP2M1 gene.

Adaptor-related protein complex 2, alpha 1

AP-2 complex subunit alpha-1 is a protein that in humans is encoded by the AP2A1 gene.

CLTC Protein-coding gene in the species Homo sapiens

Clathrin heavy chain 1 is a protein that in humans is encoded by the CLTC gene.

Atlastin

Atlastin, or Atlastin-1, is a protein that in humans is encoded by the ATL1 gene.

AP1B1

AP-1 complex subunit beta-1 is a protein that in humans is encoded by the AP1B1 gene.

AP1S1

AP-1 complex subunit sigma-1A is a protein that in humans is encoded by the AP1S1 gene.

AP1G2

AP-1 complex subunit gamma-like 2 is a protein that in humans is encoded by the AP1G2 gene.

AP3M1

AP-3 complex subunit mu-1 is a protein that in humans is encoded by the AP3M1 gene.

AP1S2

AP-1 complex subunit sigma-2 is a protein that in humans is encoded by the AP1S2 gene.

KIF5A

Kinesin heavy chain isoform 5A is a protein that in humans is encoded by the KIF5A gene.

AP3S2

AP-3 complex subunit sigma-2 is a protein that in humans is encoded by the AP3S2 gene.

EPN2

Epsin-2 is a protein that in humans is encoded by the EPN2 gene.

AP2S1

AP-2 complex subunit sigma is a protein that in humans is encoded by the AP2S1 gene.

AP3S1

AP-3 complex subunit sigma-1 is a protein that in humans is encoded by the AP3S1 gene.

AP3B2

AP-3 complex subunit beta-2 is a protein that in humans is encoded by the AP3B2 gene.

AP4B1

AP-4 complex subunit beta-1 is a protein that in humans is encoded by the AP4B1 gene.

AP4M1

AP-4 complex subunit mu-1 is a protein that in humans is encoded by the AP4M1 gene.

FARS2

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.

ALDH16A1

Aldehyde dehydrogenase 16 family, member A1 also known as ALDH16A1 is an aldehyde dehydrogenase gene.

AP4E1

AP-4 complex subunit epsilon-1 is a protein that in humans is encoded by the AP4E1 gene.

References

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

Further reading