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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, Mu 1 Subunit 2 3
  • Adaptor Related Protein Complex 4, Mu 1 Subunit 3 5
  • 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
  • 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
  • MUARP2 4
  • CPSQ3 3
  • SPG50 3
  • MU-4 3

External Ids for AP4M1 Gene

Previous GeneCards Identifiers for AP4M1 Gene

  • GC07P098233
  • GC07P099296
  • GC07P099310
  • GC07P099343
  • GC07P099537
  • GC07P099699
  • GC07P094334

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 severe intellectual disability and progressive spastic paraplegia. Among its related pathways are Lysosome and Vesicle-mediated transport. 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

Regulatory Elements for AP4M1 Gene

Promoters for AP4M1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around AP4M1 on UCSC Golden Path with GeneCards custom track

Genomic Location for AP4M1 Gene

Chromosome:
7
Start:
100,101,412 bp from pter
End:
100,110,345 bp from pter
Size:
8,934 bases
Orientation:
Plus strand

Genomic View for AP4M1 Gene

Genes around AP4M1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AP4M1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AP4M1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

  • Ubiquitination at Lys 18 and Lys 324
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for AP4M1 Gene

Domains & Families for AP4M1 Gene

Suggested Antigen Peptide Sequences for AP4M1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O00189

UniProtKB/Swiss-Prot:

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

Human Phenotype Ontology for AP4M1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AP4M1 Gene

MGI Knock Outs for AP4M1:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets and HOMER Transcription for AP4M1 Gene

Localization for AP4M1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AP4M1 Gene

Golgi apparatus, trans-Golgi network. Endosome. Note=Found in soma and dendritic shafts of neuronal cells. {ECO:0000250 UniProtKB:Q2PWT8}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AP4M1 Gene COMPARTMENTS Subcellular localization image for AP4M1 gene
Compartment Confidence
endosome 5
extracellular 5
golgi apparatus 5
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for AP4M1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IMP 20230749
GO:0030119 AP-type membrane coat adaptor complex TAS 10066790
GO:0030131 clathrin adaptor complex IEA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with AP4M1: view

Pathways & Interactions for AP4M1 Gene

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

Pathways by source for AP4M1 Gene

Gene Ontology (GO) - Biological Process for AP4M1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0061024 membrane organization TAS --
genes like me logo Genes that share ontologies with AP4M1: view

No data available for SIGNOR curated interactions for AP4M1 Gene

Drugs & Compounds for AP4M1 Gene

No Compound Related Data Available

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

Protein differential expression in normal tissues from HIPED for AP4M1 Gene

This gene is overexpressed in Testis (27.4), Peripheral blood mononuclear cells (13.3), CD8 Tcells (9.5), and Placenta (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with AP4M1: view

Protein tissue co-expression partners for AP4M1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for AP4M1 Gene

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
  • 100 (a)
OneToOne
AP4M1 35
  • 99.78 (n)
  • 99.78 (a)
cow
(Bos Taurus)
Mammalia AP4M1 36
  • 97 (a)
OneToOne
AP4M1 35
  • 90.34 (n)
  • 96.68 (a)
dog
(Canis familiaris)
Mammalia AP4M1 35
  • 89.9 (n)
  • 94.91 (a)
AP4M1 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ap4m1 16
Ap4m1 35
  • 86.71 (n)
  • 93.76 (a)
Ap4m1 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AP4M1 36
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ap4m1 35
  • 86.24 (n)
  • 92.94 (a)
lizard
(Anolis carolinensis)
Reptilia AP4M1 36
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ap4m1 35
  • 63.8 (n)
  • 62.44 (a)
zebrafish
(Danio rerio)
Actinopterygii ap4m1 36
  • 62 (a)
OneToOne
ap4m1 35
  • 63.64 (n)
  • 62.95 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APM1 36
  • 24 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G24550 35
  • 46.53 (n)
  • 36.61 (a)
rice
(Oryza sativa)
Liliopsida Os07g0620300 35
  • 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
rs2293479 -- 100,106,335(-) AGCTC(A/G)CTCTC intron-variant
rs4134934 -- 100,106,195(-) CAGTC(C/T)CTTGT intron-variant
rs4729577 -- 100,104,017(+) CCTGT(C/T)CTTTC intron-variant
rs35697019 -- 100,104,705(+) GGCAT(-/A)CTGTA intron-variant
rs35827619 -- 100,105,785(+) CTCTG(-/A)AAAAA 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

Variation tolerance for AP4M1 Gene

Residual Variation Intolerance Score: 14.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.56; 55.97% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AP4M1 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AP4M1 Gene

Disorders for AP4M1 Gene

MalaCards: The human disease database

(15) MalaCards diseases for AP4M1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spastic paraplegia 50, autosomal recessive
  • cerebral palsy, spastic quadriplegic 3
severe intellectual disability and progressive spastic paraplegia
  • ap4 deficiency syndrome
mental retardation, autosomal recessive 48
  • mrt48
microcephaly nonsyndromal
  • nonsyndromal microcephaly
spastic paraplegia 43, autosomal recessive
  • autosomal recessive spastic paraplegia type 43
- elite association - COSMIC cancer census association via MalaCards
Search AP4M1 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for AP4M1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AP4M1
genes like me logo Genes that share disorders with AP4M1: view

No data available for Genatlas for AP4M1 Gene

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 67
  2. Adaptor protein complex 4 deficiency causes severe autosomal- recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. (PMID: 21620353) Abou Jamra R. … Colleaux L. (Am. J. Hum. Genet. 2011) 2 3
  3. 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
  4. 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
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3

Products for AP4M1 Gene

Sources for AP4M1 Gene

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