Property Summary

NCBI Gene PubMed Count 19
Grant Count 10
Funding $2,359,559.33
PubMed Score 210.20
PubTator Score 45.47

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
group 3 medulloblastoma 1.600 0.000

 GO Function (1)

Gene RIF (4)

PMID Text
25496299 analysis of the AP4M1 mutation associated with aggressive behavior in addition to mild dysmorphic features, intellectual disability, spastic paraparesis and reduced head circumference [case report]
19559397 In all five patients with autosomal-recessive type of tetraplegic cerebral palsy with mental retardation, a donor splice site pathogenic mutation in intron 14 of the AP4M1 gene (c.1137+1G-->T), was identified.
18341993 AP-4 protein complex is involved in the regulation of somatodendritic-specific distribution of its cargo proteins including AMPA receptors.
11802162 Results show that AP-4 can bind different types of cytosolic signals known to mediate basolateral transport in epithelial cells. Depletion of mu 4 results in the mis-sorting of several proteins in epithelial cells.

AA Sequence

MISQFFILSSKGDPLIYKDFRGDSGGRDVAELFYRKLTGLPGDESPVVMHHHGRHFIHIRHSGLYLVVTT      1 - 70
SENVSPFSLLELLSRLATLLGDYCGSLGEGTISRNVALVYELLDEVLDYGYVQTTSTEMLRNFIQTEAVV     71 - 140
SKPFSLFDLSSVGLFGAETQQSKVAPSSAASRPVLSSRSDQSQKNEVFLDVVERLSVLIASNGSLLKVDV    141 - 210
QGEIRLKSFLPSGSEMRIGLTEEFCVGKSELRGYGPGIRVDEVSFHSSVNLDEFESHRILRLQPPQGELT    211 - 280
VMRYQLSDDLPSPLPFRLFPSVQWDRGSGRLQVYLKLRCDLLSKSQALNVRLHLPLPRGVVSLSQELSSP    281 - 350
EQKAELAEGALRWDLPRVQGGSQLSGLFQMDVPGPPGPPSHGLSTSASPLGLGPASLSFELPRHTCSGLQ    351 - 420
VRFLRLAFRPCGNANPHKWVRHLSHSDAYVIRI                                         421 - 453
//

Text Mined References (19)

PMID Year Title
26544806 2015 Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering.
25496299 2014 A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency.
25416956 2014 A proteome-scale map of the human interactome network.
21620353 2011 Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.
20230749 2010 Sorting of the Alzheimer's disease amyloid precursor protein mediated by the AP-4 complex.
19559397 2009 Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
18341993 2008 Accumulation of AMPA receptors in autophagosomes in neuronal axons lacking adaptor protein AP-4.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
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