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Aliases for AP3M1 Gene

Aliases for AP3M1 Gene

  • Adaptor Related Protein Complex 3 Mu 1 Subunit 2 3 5
  • Mu-Adaptin 3A 3 4
  • Mu3A-Adaptin 3 4
  • Adaptor-Related Protein Complex 3, Mu 1 Subunit 2
  • 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
  • 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 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 Chaperonin-mediated protein folding and Lysosome. GO annotations related to this gene include Rab GTPase binding. An important paralog of this gene is AP3M2.

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

Enhancers for AP3M1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10F074823 1.1 ENCODE 47 -674.7 -674736 5.1 HDGF PKNOX1 ARNT CREB3L1 MLX ARID4B SIN3A FEZF1 DMAP1 YBX1 AP3M1 KAT6B ENSG00000234149 LOC102723439 LOC101929165
GH10F074174 1.2 ENCODE 39.4 -26.0 -25971 5.5 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 AP3M1 ADK ENSG00000272140 ZSWIM8 BMS1P4 ENSG00000242288 GLUD1P3 DUSP8P5 AGAP5 ENSG00000268584
GH10F073741 0.4 ENCODE 31.8 +407.5 407463 4.1 HDGF PKNOX1 ARNT CREB3L1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 AP3M1 FUT11 ZSWIM8 GLUD1P3 ECD DUSP8P5 MYOZ1 RPL17P50 ENSG00000242288 ENSG00000272791
GH10F074223 0.9 Ensembl ENCODE 29.5 -73.0 -73002 1.8 JUN ZIC2 ZSCAN29 ZNF600 MAFK TCF7L2 STAT1 JUNB CEBPB EP300 ADK AP3M1 ENSG00000272140 BMS1P4 ENSG00000242288 GLUD1P3 DUSP8P5 ZSWIM8 AGAP5 ENSG00000268584
GH10F073964 1.3 VISTA FANTOM5 Ensembl ENCODE 24.5 +183.9 183869 6.2 PKNOX1 SIN3A FEZF1 ZNF2 ETS1 YY1 GTF3C2 GLIS2 FOS SP3 GLUD1P3 ENSG00000272140 DUSP8P5 BMS1P4 AP3M1 ENSG00000242288 ECD ZSWIM8 RPL17P50 DNAJC9
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around AP3M1 on UCSC Golden Path with GeneCards custom track

Promoters for AP3M1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000116573 -132 3601 HDGF PKNOX1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

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

Post-translational modifications for AP3M1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AP3M1 Gene

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.

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

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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:0005765 lysosomal membrane IDA 17897319
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA --
GO:0030131 clathrin adaptor complex 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:0006810 transport IEA --
GO:0006886 intracellular protein transport IEA --
GO:0008089 anterograde axonal transport ISS --
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with AP3M1: view

No data available for SIGNOR curated interactions for AP3M1 Gene

Transcripts for AP3M1 Gene

Unigene Clusters for AP3M1 Gene

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

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for AP3M1 Gene



Protein tissue co-expression partners for AP3M1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AP3M1 Gene:

AP3M1

SOURCE GeneReport for Unigene cluster for AP3M1 Gene:

Hs.500104
genes like me logo Genes that share expression patterns with AP3M1: view

Primer 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
oppossum
(Monodelphis domestica)
Mammalia AP3M1 35
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AP3M1 34 35
  • 99.76 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 97 (a)
OneToMany
-- 35
  • 83 (a)
OneToMany
dog
(Canis familiaris)
Mammalia AP3M1 34 35
  • 95.61 (n)
cow
(Bos Taurus)
Mammalia AP3M1 34 35
  • 95.3 (n)
rat
(Rattus norvegicus)
Mammalia Ap3m1 34
  • 93.06 (n)
mouse
(Mus musculus)
Mammalia Ap3m1 34 16 35
  • 92.9 (n)
chicken
(Gallus gallus)
Aves AP3M1 34 35
  • 82.78 (n)
lizard
(Anolis carolinensis)
Reptilia AP3M1 35
  • 88 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ap3m1 34 35
  • 72.49 (n)
fruit fly
(Drosophila melanogaster)
Insecta cm 36 35
  • 69 (a)
worm
(Caenorhabditis elegans)
Secernentea apm-3 34 35
  • 62.88 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APM1 35
  • 23 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os.18281 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 70 (a)
OneToMany
Species where no ortholog for AP3M1 was found in the sources mined by GeneCards:
  • 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
rs1049614 -- 74,120,057(+) ACATC(A/C)CCGCT downstream-variant-500B, utr-variant-3-prime
rs10762576 -- 74,136,843(+) AGGCA(A/C)AAAGA intron-variant
rs10824075 -- 74,120,496(+) AGTTG(C/T)TAAGT nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs10824076 -- 74,127,198(+) AACCA(A/G)TCCTC intron-variant
rs10824077 -- 74,127,280(+) CATAA(C/T)GTTCT intron-variant

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

Variant ID Type Subtype PubMed ID
esv2658956 CNV deletion 23128226
esv3623823 CNV loss 21293372
esv3623824 CNV loss 21293372
nsv551527 CNV gain 21841781

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 64
  2. Association analysis between schizophrenia and the AP-3 complex genes. (PMID: 19481122) Hashimoto R. … Kunugi H. (Neurosci. Res. 2009) 3 46 64
  3. 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 46 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. 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 64

Products for AP3M1 Gene

Sources for AP3M1 Gene

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