AP4M1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesAP4M1, CPSQ3, MU-4, MU-ARP2, SPG50, adaptor related protein complex 4 mu 1 subunit, adaptor related protein complex 4 subunit mu 1
External IDsOMIM: 602296 MGI: 1337063 HomoloGene: 3467 GeneCards: AP4M1
Orthologs
SpeciesHumanMouse
Entrez

9179

11781

Ensembl

ENSG00000221838

ENSMUSG00000019518

UniProt

O00189

Q9JKC7

RefSeq (mRNA)

NM_004722
NM_001363671

NM_021392

RefSeq (protein)

NP_004713
NP_001350600

NP_067367

Location (UCSC)Chr 7: 100.1 – 100.11 MbChr 5: 138.17 – 138.18 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

AP-4 complex subunit mu-1 is a protein that in humans is encoded by the AP4M1 gene.[5][6][7]

Function

This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to the adaptor complexes medium subunits family. This AP-4 complex is involved in the recognition and sorting of cargo proteins with tyrosine-based motifs from the trans-golgi network to the endosomal-lysosomal system.[7]

Interactions

AP4M1 has been shown to interact with AP4B1.[8]

Clinical relevance

The AP4-complex-mediated trafficking plays a crucial role in brain development and functioning.[9] Mutations of the gene cause spastic paraplegia 50, one of the many subtypes of spastic paraplegia.

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000221838 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000019518 – 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. ^ Wang X, Kilimann MW (Feb 1997). "Identification of two new mu-adaptin-related proteins, mu-ARP1 and mu-ARP2". FEBS Lett. 402 (1): 57–61. doi:10.1016/S0014-5793(96)01500-1. PMID 9013859. S2CID 81844290.
  6. ^ Dell'Angelica EC, Mullins C, Bonifacino JS (Apr 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.
  7. ^ a b "Entrez Gene: AP4M1 adaptor-related protein complex 4, mu 1 subunit".
  8. ^ Hirst J, Bright NA, Rous B, Robinson MS (August 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.
  9. ^ 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 (June 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

Further reading


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