Property Summary

NCBI Gene PubMed Count 19
PubMed Score 210.20
PubTator Score 45.47

Knowledge Summary


No data available


  Differential Expression (1)

Disease log2 FC p
group 3 medulloblastoma 1.600 1.7e-05

 GO Function (1)

Protein-protein Interaction (2)

Gene RIF (4)

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

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).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12690205 2003 Human chromosome 7: DNA sequence and biology.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11707398 2001 Functional and physical interactions of the adaptor protein complex AP-4 with ADP-ribosylation factors (ARFs).
11139587 2001 Signal-binding specificity of the mu4 subunit of the adaptor protein complex AP-4.
10436028 1999 Characterization of a fourth adaptor-related protein complex.
10066790 1999 AP-4, a novel protein complex related to clathrin adaptors.
9794796 1998 Specificity of interaction between adaptor-complex medium chains and the tyrosine-based sorting motifs of TGN38 and lgp120.
9013859 1997 Identification of two new mu-adaptin-related proteins, mu-ARP1 and mu-ARP2.