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Aliases for AP3M1 Gene

Aliases for AP3M1 Gene

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

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 may be directly involved 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. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]

GeneCards Summary for AP3M1 Gene

AP3M1 (Adaptor-Related Protein Complex 3, Mu 1 Subunit) is a Protein Coding gene. Diseases associated with AP3M1 include hermansky-pudlak syndrome. Among its related pathways are Lysosome and Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein. An important paralog of this gene is AP1M2.

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

Genomic Location for AP3M1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for AP3M1 Gene

Domains 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 :
  • Q9Y2T2
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

Gene Ontology (GO) - Molecular Function for AP3M1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19116314
GO:0017137 Rab GTPase binding IPI 22511774
genes like me logo Genes that share ontologies with AP3M1: view

Phenotypes for AP3M1 Gene

GenomeRNAi human phenotypes for AP3M1:
genes like me logo Genes that share phenotypes with AP3M1: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
golgi apparatus 5
lysosome 4
vacuole 4
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:0005765 lysosomal membrane IDA 17897319
GO:0005794 Golgi apparatus IEA --
GO:0030131 clathrin adaptor complex IEA --
GO:0030659 cytoplasmic vesicle membrane IEA --
genes like me logo Genes that share ontologies with AP3M1: view

Pathways 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:0006810 transport --
GO:0006886 intracellular protein transport --
GO:0008089 anterograde axon cargo transport ISS --
GO:0016192 vesicle-mediated transport --
genes like me logo Genes that share ontologies with AP3M1: view

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

Integrated Proteomics: protein expression 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 expressions with AP3M1: view

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
chimpanzee
(Pan troglodytes)
Mammalia AP3M1 35
  • 99.76 (n)
  • 100 (a)
AP3M1 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia AP3M1 36
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 97 (a)
OneToMany
-- 36
  • 83 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Ap3m1 35
  • 93.06 (n)
  • 99.04 (a)
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 36
  • 69 (a)
OneToMany
cm 37
  • 69 (a)
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

Selected 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 MAF
rs6688 -- 74,121,918(-) ATGTA(C/T)GCCAG 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

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

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for AP3M1 Gene including...

Search for AP3M1 Gene in MalaCards »

Relevant External Links for AP3M1

Genetic Association Database (GAD)
AP3M1
Human Genome Epidemiology (HuGE) Navigator
AP3M1
genes like me logo Genes that share disorders with AP3M1: view

No data available for UniProtKB/Swiss-Prot 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
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Association analysis between schizophrenia and the AP-3 complex genes. (PMID: 19481122) Hashimoto R. … Kunugi H. (Neurosci. Res. 2009) 3 48
  5. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 3 48

Products for AP3M1 Gene

Sources for AP3M1 Gene

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