AP3M1 (adaptor related protein complex 3 subunit mu 1)

2014-11-01  

Identity

HGNC
LOCATION
10q22.2
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 26985
MIM: 610366
HGNC: 569
Ensembl: ENSG00000185009

Variants:

dbSNP: 26985
ClinVar: 26985
TCGA: ENSG00000185009
COSMIC: AP3M1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000185009ENST00000355264Q9Y2T2
ENSG00000185009ENST00000355264A0A024QZR5
ENSG00000185009ENST00000372745Q9Y2T2
ENSG00000185009ENST00000372745A0A024QZR5

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
LysosomeKEGGko04142
LysosomeKEGGhsa04142
Metabolism of proteinsREACTOMER-HSA-392499
Protein foldingREACTOMER-HSA-391251
Chaperonin-mediated protein foldingREACTOMER-HSA-390466
Association of TriC/CCT with target proteins during biosynthesisREACTOMER-HSA-390471

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
234045002013Structural basis for the recognition of tyrosine-based sorting signals by the μ3A subunit of the AP-3 adaptor complex.21
228335632012AP-3 regulates PAR1 ubiquitin-independent MVB/lysosomal sorting via an ALIX-mediated pathway.19
228759762012Defective HIV-1 particle assembly in AP-3-deficient cells derived from patients with Hermansky-Pudlak syndrome type 2.10
194811222009Association analysis between schizophrenia and the AP-3 complex genes.4
194811222009Association analysis between schizophrenia and the AP-3 complex genes.4

Citation

Dessen P

AP3M1 (adaptor related protein complex 3 subunit mu 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60404/ap3m1