AP4M1

Protein-coding gene in the species Homo sapiens
AP4M1
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

3L81, 4MDR

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
Gene location (Human)
Chromosome 7 (human)
Chr.Chromosome 7 (human)[1]
Chromosome 7 (human)
Genomic location for AP4M1
Genomic location for AP4M1
Band7q22.1Start100,101,549 bp[1]
End100,110,345 bp[1]
Gene location (Mouse)
Chromosome 5 (mouse)
Chr.Chromosome 5 (mouse)[2]
Chromosome 5 (mouse)
Genomic location for AP4M1
Genomic location for AP4M1
Band5|5 G2Start138,170,264 bp[2]
End138,178,691 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • right uterine tube

  • anterior pituitary

  • stromal cell of endometrium

  • right lobe of thyroid gland

  • ganglionic eminence

  • canal of the cervix

  • body of stomach

  • left lobe of thyroid gland

  • tibial nerve

  • ascending aorta
Top expressed in
  • spermatid

  • spermatocyte

  • lip

  • yolk sac

  • seminiferous tubule

  • superior frontal gyrus

  • neural tube

  • ganglionic eminence

  • fossa

  • lens
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • protein binding
  • protein domain specific binding
Cellular component
  • trans-Golgi network
  • endosome
  • Golgi apparatus
  • trans-Golgi network membrane
  • endosome lumen
  • extracellular exosome
  • clathrin adaptor complex
  • cytosol
  • early endosome
  • AP-4 adaptor complex
  • membrane
Biological process
  • Golgi to endosome transport
  • protein transport
  • intracellular protein transport
  • transport
  • protein targeting
  • protein targeting to lysosome
  • vesicle-mediated transport
  • Golgi to lysosome transport
  • protein localization to basolateral plasma membrane
  • protein localization
Sources:Amigo / QuickGO
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

  • Human AP4M1 genome location and AP4M1 gene details page in the UCSC Genome Browser.
  • Overview of all the structural information available in the PDB for UniProt: O00189 (Human AP-4 complex subunit mu-1) at the PDBe-KB.

Further reading

  • Stephens DJ, Banting G (1998). "Specificity of interaction between adaptor-complex medium chains and the tyrosine-based sorting motifs of TGN38 and lgp120". Biochem. J. 335 (Pt 3): 567–72. doi:10.1042/bj3350567. PMC 1219817. PMID 9794796.
  • Hirst J, Bright NA, Rous B, Robinson MS (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.
  • Aguilar RC, Boehm M, Gorshkova I, et al. (2001). "Signal-binding specificity of the mu4 subunit of the adaptor protein complex AP-4". J. Biol. Chem. 276 (16): 13145–52. doi:10.1074/jbc.M010591200. PMID 11139587.
  • Boehm M, Aguilar RC, Bonifacino JS (2002). "Functional and physical interactions of the adaptor protein complex AP-4 with ADP-ribosylation factors (ARFs)". EMBO J. 20 (22): 6265–76. doi:10.1093/emboj/20.22.6265. PMC 125733. PMID 11707398.
  • Simmen T, Höning S, Icking A, et al. (2002). "AP-4 binds basolateral signals and participates in basolateral sorting in epithelial MDCK cells". Nat. Cell Biol. 4 (2): 154–9. doi:10.1038/ncb745. PMID 11802162. S2CID 28781777.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Scherer SW, Cheung J, MacDonald JR, et al. (2003). "Human Chromosome 7: DNA Sequence and Biology". Science. 300 (5620): 767–72. Bibcode:2003Sci...300..767S. doi:10.1126/science.1083423. PMC 2882961. PMID 12690205.
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.


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