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Aliases for AP3M1 Gene

Aliases for AP3M1 Gene

  • Adaptor Related Protein Complex 3 Mu 1 Subunit 2 3
  • Mu-Adaptin 3A 3 4
  • Mu3A-Adaptin 3 4
  • Adaptor-Related Protein Complex 3, Mu 1 Subunit 2
  • Adaptor Related Protein Complex 3, Mu 1 Subunit 5
  • Adapter-Related Protein Complex 3 Mu-1 Subunit 3
  • Adaptor-Related Protein Complex 3 Subunit Mu-1 4
  • Clathrin Adaptor Complex AP3, Mu-3A Subunit 3
  • AP-3 Adapter Complex Mu3A Subunit 3
  • AP-3 Adaptor Complex Mu3A Subunit 4

External Ids for AP3M1 Gene

Previous GeneCards Identifiers for AP3M1 Gene

  • GC10M074835
  • GC10M074984
  • GC10M075773
  • GC10M075226
  • GC10M075551
  • GC10M075880
  • GC10M069875

Summaries for AP3M1 Gene

Entrez Gene Summary for AP3M1 Gene

  • The protein encoded by this gene is the medium subunit of AP-3, which is an adaptor-related protein complex associated with the Golgi region as well as more peripheral intracellular structures. AP-3 facilitates the budding of vesicles from the Golgi membrane, and it may directly function in protein sorting to the endosomal/lysosomal system. AP-3 is a heterotetrameric protein complex composed of two large subunits (delta and beta3), a medium subunit (mu3), and a small subunit (sigma 3). Mutations in one of the large subunits of AP-3 have been associated with the Hermansky-Pudlak syndrome, a genetic disorder characterized by defective lysosome-related organelles. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2016]

GeneCards Summary for AP3M1 Gene

AP3M1 (Adaptor Related Protein Complex 3 Mu 1 Subunit) is a Protein Coding gene. Among its related pathways are Transport to the Golgi and subsequent modification and Lysosome. GO annotations related to this gene include Rab GTPase binding. An important paralog of this gene is AP4M1.

UniProtKB/Swiss-Prot for AP3M1 Gene

  • Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals.

Gene Wiki entry for AP3M1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AP3M1 Gene

Genomics for AP3M1 Gene

Regulatory Elements for AP3M1 Gene

Promoters for AP3M1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around AP3M1 on UCSC Golden Path with GeneCards custom track

Genomic Location for AP3M1 Gene

Chromosome:
10
Start:
74,120,255 bp from pter
End:
74,151,068 bp from pter
Size:
30,814 bases
Orientation:
Minus strand

Genomic View for AP3M1 Gene

Genes around AP3M1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AP3M1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AP3M1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AP3M1 Gene

Proteins for AP3M1 Gene

  • Protein details for AP3M1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2T2-AP3M1_HUMAN
    Recommended name:
    AP-3 complex subunit mu-1
    Protein Accession:
    Q9Y2T2
    Secondary Accessions:
    • Q5JQ12
    • Q9H5L2

    Protein attributes for AP3M1 Gene

    Size:
    418 amino acids
    Molecular mass:
    46939 Da
    Quaternary structure:
    • Adaptor protein complex 3 (AP-3) is a heterotetramer composed of two large adaptins (delta-type subunit AP3D1 and beta-type subunit AP3B1 or AP3B2), a medium adaptin (mu-type subunit AP3M1 or AP3M2) and a small adaptin (sigma-type subunit APS1 or AP3S2). Interacts with AGAP1. AP-3 associates with the BLOC-1 complex (By similarity).

neXtProt entry for AP3M1 Gene

Proteomics data for AP3M1 Gene at MOPED

Post-translational modifications for AP3M1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AP3M1 Gene

Antibody Products

No data available for DME Specific Peptides for AP3M1 Gene

Domains & Families for AP3M1 Gene

Suggested Antigen Peptide Sequences for AP3M1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y2T2

UniProtKB/Swiss-Prot:

AP3M1_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 AP3M1: view

No data available for Gene Families for AP3M1 Gene

Function for AP3M1 Gene

Molecular function for AP3M1 Gene

UniProtKB/Swiss-Prot Function:
Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals.
genes like me logo Genes that share phenotypes with AP3M1: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AP3M1 Gene

Localization for AP3M1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AP3M1 Gene

Golgi apparatus. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AP3M1 Gene COMPARTMENTS Subcellular localization image for AP3M1 gene
Compartment Confidence
lysosome 5
vacuole 5
golgi apparatus 3
cytosol 2
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for AP3M1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome TAS 10024875
GO:0030659 cytoplasmic vesicle membrane IEA --
genes like me logo Genes that share ontologies with AP3M1: view

Pathways & Interactions for AP3M1 Gene

genes like me logo Genes that share pathways with AP3M1: view

Pathways by source for AP3M1 Gene

Gene Ontology (GO) - Biological Process for AP3M1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006622 protein targeting to lysosome TAS 10024875
GO:0008089 anterograde axonal transport ISS --
GO:0048490 anterograde synaptic vesicle transport ISS --
genes like me logo Genes that share ontologies with AP3M1: view

No data available for SIGNOR curated interactions for AP3M1 Gene

Drugs & Compounds for AP3M1 Gene

No Compound Related Data Available

Transcripts for AP3M1 Gene

Unigene Clusters for AP3M1 Gene

Adaptor-related protein complex 3, mu 1 subunit:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AP3M1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b · 12c
SP1: - - - -
SP2: - - - - -
SP3: - -
SP4: - - -
SP5: - - -
SP6: - - -
SP7:
SP8:

Relevant External Links for AP3M1 Gene

GeneLoc Exon Structure for
AP3M1
ECgene alternative splicing isoforms for
AP3M1

Expression for AP3M1 Gene

mRNA expression in normal human tissues for AP3M1 Gene

Protein differential expression in normal tissues from HIPED for AP3M1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (9.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for AP3M1 Gene



SOURCE GeneReport for Unigene cluster for AP3M1 Gene Hs.500104

genes like me logo Genes that share expression patterns with AP3M1: view

Protein tissue co-expression partners for AP3M1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for AP3M1 Gene

Orthologs for AP3M1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AP3M1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia AP3M1 35
  • 95.3 (n)
  • 99.76 (a)
AP3M1 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AP3M1 35
  • 95.61 (n)
  • 100 (a)
AP3M1 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ap3m1 35
  • 92.9 (n)
  • 99.52 (a)
Ap3m1 16
Ap3m1 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AP3M1 35
  • 99.76 (n)
  • 100 (a)
AP3M1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ap3m1 35
  • 93.06 (n)
  • 99.04 (a)
oppossum
(Monodelphis domestica)
Mammalia AP3M1 36
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 97 (a)
OneToMany
-- 36
  • 83 (a)
OneToMany
chicken
(Gallus gallus)
Aves AP3M1 35
  • 82.78 (n)
  • 95.45 (a)
AP3M1 36
  • 96 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AP3M1 36
  • 88 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ap3m1 35
  • 72.49 (n)
  • 82.3 (a)
ap3m1 36
  • 82 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta cm 37
  • 69 (a)
cm 36
  • 69 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea apm-3 35
  • 62.88 (n)
  • 64.25 (a)
apm-3 36
  • 63 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APM1 36
  • 23 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os.18281 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 70 (a)
OneToMany
Species with no ortholog for AP3M1:
  • 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)
  • 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for AP3M1 Gene

ENSEMBL:
Gene Tree for AP3M1 (if available)
TreeFam:
Gene Tree for AP3M1 (if available)

Paralogs for AP3M1 Gene

Paralogs for AP3M1 Gene

(5) SIMAP similar genes for AP3M1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with AP3M1: view

Variants for AP3M1 Gene

Sequence variations from dbSNP and Humsavar for AP3M1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs6688 -- 74,121,918(-) ATGTA(C/T)GCCAG nc-transcript-variant, utr-variant-3-prime
rs1874147 -- 74,142,900(+) TACAC(A/C)TTTTT intron-variant
rs1908331 -- 74,126,059(-) GGCAC(C/T)TTGTT intron-variant
rs2270549 -- 74,126,121(-) AGTGA(C/G)CAAGT intron-variant
rs2395086 -- 74,139,221(+) acaca(A/C)aaaaa intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AP3M1 Gene

Variant ID Type Subtype PubMed ID
esv2658956 CNV Deletion 23128226

Variation tolerance for AP3M1 Gene

Residual Variation Intolerance Score: 15.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.87; 18.19% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AP3M1 Gene

HapMap Linkage Disequilibrium report
AP3M1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AP3M1 Gene

Disorders for AP3M1 Gene

Relevant External Links for AP3M1

Genetic Association Database (GAD)
AP3M1
Human Genome Epidemiology (HuGE) Navigator
AP3M1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AP3M1

No disorders were found for AP3M1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for AP3M1 Gene

Publications for AP3M1 Gene

  1. Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. (PMID: 10024875) Dell'Angelica E.C. … Bonifacino J.S. (Mol. Cell 1999) 2 3 4 67
  2. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  5. Proteomic analysis of the epidermal growth factor receptor (EGFR) interactome and post-translational modifications associated with receptor endocytosis in response to EGF and stress. (PMID: 24797263) Tong J. … Moran M.F. (Mol. Cell Proteomics 2014) 3

Products for AP3M1 Gene

Sources for AP3M1 Gene

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