AP3M1

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AP3M1
Identifiers
AliasesAP3M1, adaptor related protein complex 3 mu 1 subunit, adaptor related protein complex 3 subunit mu 1
External IDsMGI: 1929212 HomoloGene: 22693 GeneCards: AP3M1
Gene location (Human)
Chromosome 10 (human)
Chr.Chromosome 10 (human)[1]
Chromosome 10 (human)
Genomic location for AP3M1
Genomic location for AP3M1
Band10q22.2Start74,120,255 bp[1]
End74,151,063 bp[1]
RNA expression pattern
PBB GE AP3M1 gnf1h00114 s at fs.png

PBB GE AP3M1 gnf1h00112 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_012095
NM_207012
NM_001320263
NM_001320264
NM_001320265

NM_018829

RefSeq (protein)

NP_001307192
NP_001307193
NP_001307194
NP_036227
NP_996895

NP_061299

Location (UCSC)Chr 10: 74.12 – 74.15 MbChr 14: 21.03 – 21.05 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

AP-3 complex subunit mu-1 is a protein that in humans is encoded by the AP3M1 gene.[5][6]

The protein encoded by this gene is the medium subunit of AP-3, which is an adaptor-related protein complex associated with the Golgi region as well as more peripheral intracellular structures. AP-3 facilitates the budding of vesicles from the Golgi membrane and may be directly involved in protein sorting to the endosomal/lysosomal system. AP-3 is a heterotetrameric protein complex composed of two large subunits (delta and beta3), a medium subunit (mu3), and a small subunit (sigma 3). Mutations in one of the large subunits of AP-3 have been associated with the Hermansky-Pudlak syndrome, a genetic disorder characterized by defective lysosome-related organelles. Alternatively spliced transcript variants encoding the same protein have been observed.[6]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000185009 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021824 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ Dell'Angelica EC, Shotelersuk V, Aguilar RC, Gahl WA, Bonifacino JS (Mar 1999). "Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor". Mol Cell. 3 (1): 11–21. doi:10.1016/S1097-2765(00)80170-7. PMID 10024875.
  6. ^ a b "Entrez Gene: AP3M1 adaptor-related protein complex 3, mu 1 subunit".

External links[edit]

Further reading[edit]