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Aliases for AP4M1 Gene

Aliases for AP4M1 Gene

  • Adaptor-Related Protein Complex 4, Mu 1 Subunit 2 3
  • Mu Subunit Of AP-4 2 3 4
  • Adaptor-Related Protein Complex AP-4 Mu4 Subunit 2 3
  • Adaptor-Related Protein Complex 4 Subunit Mu-1 3 4
  • AP-4 Adaptor Complex Mu Subunit 3 4
  • Mu-Adaptin-Related Protein-2 2 3
  • Mu-Adaptin-Related Protein 2 3 4
  • Mu4-Adaptin 3 4
  • MU-ARP2 3 4
  • CPSQ3 3 6
  • SPG50 3 6
  • Mu4 3 4
  • Adapter-Related Protein Complex 4 Mu-1 Subunit 3
  • Adapter-Related Protein Complex 4 Subunit Mu-1 3
  • AP-4 Adapter Complex Mu Subunit 2
  • AP-4 Complex Subunit Mu-1 3
  • MUARP2 4
  • MU-4 3

External Ids for AP4M1 Gene

Summaries for AP4M1 Gene

Entrez Gene Summary for AP4M1 Gene

  • 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for AP4M1 Gene

AP4M1 (Adaptor-Related Protein Complex 4, Mu 1 Subunit) is a Protein Coding gene. Diseases associated with AP4M1 include spastic paraplegia 50, autosomal recessive and infantile hypotonia. Among its related pathways are Lysosome. GO annotations related to this gene include transporter activity. An important paralog of this gene is AP1M2.

UniProtKB/Swiss-Prot for AP4M1 Gene

  • Component of the AP-4 complex, a novel type of clathrin- or non-clathrin-associated protein coat involved in targeting proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system. Plays a role in the intracellular trafficking of APP from the trans-Golgi network (TGN) to endosomes, and thereby inhibits amyloidogenic processing of APP.

Gene Wiki entry for AP4M1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AP4M1 Gene

Genomics for AP4M1 Gene

Genomic Location for AP4M1 Gene

Start:
100,101,490 bp from pter
End:
100,110,345 bp from pter
Size:
8,856 bases
Orientation:
Plus strand

Genomic View for AP4M1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AP4M1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AP4M1 Gene

Regulatory Elements for AP4M1 Gene

Proteins for AP4M1 Gene

  • Protein details for AP4M1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00189-AP4M1_HUMAN
    Recommended name:
    AP-4 complex subunit mu-1
    Protein Accession:
    O00189
    Secondary Accessions:
    • D6W5U1
    • Q8WV65
    • Q9UHK9

    Protein attributes for AP4M1 Gene

    Size:
    453 amino acids
    Molecular mass:
    49977 Da
    Quaternary structure:
    • Adaptor protein complex 4 (AP-4) is a heterotetramer composed of two large adaptins (epsilon-type subunit AP4E1 and beta-type subunit AP4B1), a medium adaptin (mu-type subunit AP4M1) and a small adaptin (sigma-type AP4S1). Interacts with the C-terminal domain of GRID2 (By similarity). Interacts with tyrosine-based sorting signals on the cytoplasmic tail of cargo proteins, such as LAMP2 and APP.

    Three dimensional structures from OCA and Proteopedia for AP4M1 Gene

neXtProt entry for AP4M1 Gene

Proteomics data for AP4M1 Gene at MOPED

Post-translational modifications for AP4M1 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys18 and Lys324

No data available for DME Specific Peptides for AP4M1 Gene

Domains for AP4M1 Gene

UniProtKB/Swiss-Prot:

AP4M1_HUMAN
Domain:
  • Contains 1 MHD (mu homology) domain.:
    • O00189
Family:
  • Belongs to the adaptor complexes medium subunit family.:
    • O00189
genes like me logo Genes that share domains with AP4M1: view

No data available for Gene Families for AP4M1 Gene

Function for AP4M1 Gene

Molecular function for AP4M1 Gene

UniProtKB/Swiss-Prot Function: Component of the AP-4 complex, a novel type of clathrin- or non-clathrin-associated protein coat involved in targeting proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system. Plays a role in the intracellular trafficking of APP from the trans-Golgi network (TGN) to endosomes, and thereby inhibits amyloidogenic processing of APP.

Gene Ontology (GO) - Molecular Function for AP4M1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity TAS 10066790
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with AP4M1: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for AP4M1 Gene

Localization for AP4M1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AP4M1 Gene

Golgi apparatus, trans-Golgi network. Membrane, coated pit. Note=Associated with the trans-Golgi network. Found in soma and dendritic shafts of neuronal cells.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AP4M1 Gene COMPARTMENTS Subcellular localization image for AP4M1 gene
Compartment Confidence
golgi apparatus 4
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for AP4M1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000138 Golgi trans cisterna TAS 10066790
GO:0005802 trans-Golgi network IDA 20230749
GO:0005905 coated pit IEA --
GO:0030119 AP-type membrane coat adaptor complex TAS 10066790
GO:0030131 clathrin adaptor complex IEA --
genes like me logo Genes that share ontologies with AP4M1: view

Pathways for AP4M1 Gene

SuperPathways for AP4M1 Gene

Superpath Contained pathways
1 Lysosome
genes like me logo Genes that share pathways with AP4M1: view

Pathways by source for AP4M1 Gene

1 KEGG pathway for AP4M1 Gene

Gene Ontology (GO) - Biological Process for AP4M1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport --
GO:0006886 intracellular protein transport IMP 20230749
GO:0006892 post-Golgi vesicle-mediated transport TAS --
GO:0006895 Golgi to endosome transport IMP 20230749
GO:0016192 vesicle-mediated transport TAS 10066790
genes like me logo Genes that share ontologies with AP4M1: view

Transcripts for AP4M1 Gene

Unigene Clusters for AP4M1 Gene

Adaptor-related protein complex 4, mu 1 subunit:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AP4M1 Gene

No ASD Table

Relevant External Links for AP4M1 Gene

GeneLoc Exon Structure for
AP4M1
ECgene alternative splicing isoforms for
AP4M1

Expression for AP4M1 Gene

mRNA expression in normal human tissues for AP4M1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for AP4M1 Gene

SOURCE GeneReport for Unigene cluster for AP4M1 Gene Hs.632317

mRNA Expression by UniProt/SwissProt for AP4M1 Gene

O00189-AP4M1_HUMAN
Tissue specificity: Ubiquitous. Highly expressed in testis and lowly expressed in brain and lung.
genes like me logo Genes that share expressions with AP4M1: view

Orthologs for AP4M1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AP4M1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AP4M1 36
  • 99.78 (n)
  • 99.78 (a)
AP4M1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AP4M1 36
  • 90.34 (n)
  • 96.68 (a)
AP4M1 37
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AP4M1 36
  • 89.9 (n)
  • 94.91 (a)
AP4M1 37
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ap4m1 36
  • 86.71 (n)
  • 93.76 (a)
Ap4m1 16
Ap4m1 37
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AP4M1 37
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ap4m1 36
  • 86.24 (n)
  • 92.94 (a)
lizard
(Anolis carolinensis)
Reptilia AP4M1 37
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ap4m1 36
  • 63.8 (n)
  • 62.44 (a)
zebrafish
(Danio rerio)
Actinopterygii ap4m1 36
  • 63.64 (n)
  • 62.95 (a)
ap4m1 37
  • 62 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APM1 37
  • 24 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G24550 36
  • 46.53 (n)
  • 36.61 (a)
rice
(Oryza sativa)
Liliopsida Os07g0620300 36
  • 48.89 (n)
  • 37.76 (a)
Species with no ortholog for AP4M1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AP4M1 Gene

ENSEMBL:
Gene Tree for AP4M1 (if available)
TreeFam:
Gene Tree for AP4M1 (if available)

Paralogs for AP4M1 Gene

Paralogs for AP4M1 Gene

genes like me logo Genes that share paralogs with AP4M1: view

Variants for AP4M1 Gene

Sequence variations from dbSNP and Humsavar for AP4M1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs2293479 -- 100,106,335(-) AGCTC(A/G)CTCTC intron-variant
rs2293480 -- 100,106,326(-) TCTCC(C/T)CAGGA intron-variant
rs4134933 -- 100,106,546(-) TGTGG(A/G)AGGAG intron-variant
rs4134934 -- 100,106,195(-) CAGTC(C/T)CTTGT intron-variant
rs4729577 -- 100,104,017(+) CCTGT(C/T)CTTTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AP4M1 Gene

Variant ID Type Subtype PubMed ID
nsv469687 CNV Loss 16826518
esv2734888 CNV Deletion 23290073

Relevant External Links for AP4M1 Gene

HapMap Linkage Disequilibrium report
AP4M1
Human Gene Mutation Database (HGMD)
AP4M1

Disorders for AP4M1 Gene

(1) OMIM Diseases for AP4M1 Gene (602296)

UniProtKB/Swiss-Prot

AP4M1_HUMAN
  • Cerebral palsy, spastic quadriplegic 3 (CPSQ3) [MIM:612936]: A non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals present postnatally with early infantile hypotonia, delayed psychomotor development, strabismus, lack of independent walking and severe mental retardation. They develop progressive spasticity of all limbs with generalized hypertonia, hyperreflexia, and extensor plantar responses by the end of the first year of life. Speech is absent or limited. Pseudobulbar signs, such as drooling, stereotypic laughter, and exaggerated jaw jerk, are part of the clinical picture. {ECO:0000269 PubMed:19559397}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for AP4M1 Gene

genes like me logo Genes that share disorders with AP4M1: view

Publications for AP4M1 Gene

  1. Identification of two new mu-adaptin-related proteins, mu-ARP1 and mu-ARP2. (PMID: 9013859) Wang X. … Kilimann M.W. (FEBS Lett. 1997) 2 3 4 23
  2. AP-4 binds basolateral signals and participates in basolateral sorting in epithelial MDCK cells. (PMID: 11802162) Simmen T. … Hunziker W. (Nat. Cell Biol. 2002) 3 23
  3. Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy. (PMID: 19559397) Verkerk A.J. … Mancini G.M. (Am. J. Hum. Genet. 2009) 3 4
  4. Sorting of the Alzheimer's disease amyloid precursor protein mediated by the AP-4 complex. (PMID: 20230749) Burgos P.V. … Bonifacino J.S. (Dev. Cell 2010) 3 4
  5. AP-4, a novel protein complex related to clathrin adaptors. (PMID: 10066790) Dell'Angelica E.C. … Bonifacino J.S. (J. Biol. Chem. 1999) 2 3

Products for AP4M1 Gene

Sources for AP4M1 Gene

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