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 co... See more...

Aliases for AP3M1 Gene

Aliases for AP3M1 Gene

  • Adaptor Related Protein Complex 3 Subunit Mu 1 2 3 5
  • Adaptor Related Protein Complex 3 Mu 1 Subunit 2 3
  • AP-3 Complex Subunit Mu-1 3 4
  • Mu-Adaptin 3A 3 4
  • Mu3A-Adaptin 3 4
  • 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 Subunit Mu 1) is a Protein Coding gene. Diseases associated with AP3M1 include Hermansky-Pudlak Syndrome and Testicular Leukemia. Among its related pathways are Chaperonin-mediated protein folding and Lysosome. Gene Ontology (GO) annotations related to this gene include Rab GTPase binding. An important paralog of this gene is AP3M2.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for AP3M1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AP3M1 Gene

Genomics for AP3M1 Gene

GeneHancer (GH) Regulatory Elements for AP3M1 Gene

Promoters and enhancers for AP3M1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AP3M1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AP3M1

Top Transcription factor binding sites by QIAGEN in the AP3M1 gene promoter:
  • C/EBPbeta
  • GR
  • GR-alpha
  • GR-beta
  • Lmo2
  • Nkx6-1
  • POU2F1
  • POU2F1a
  • Spz1
  • TBP

Genomic Locations for AP3M1 Gene

Genomic Locations for AP3M1 Gene
chr10:74,120,255-74,151,068
(GRCh38/hg38)
Size:
30,814 bases
Orientation:
Minus strand
chr10:75,880,015-75,910,826
(GRCh37/hg19)
Size:
30,812 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).
    • (Microbial infection) Interacts with human respiratory virus (HRSV) protein M.

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

Gene Families for AP3M1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for AP3M1 Gene

Blocks:
  • Clathrin adaptor complex, small chain
  • Clathrin adaptor complex, medium chain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AP3M1 Gene

GenScript: Design optimal peptide antigens:
  • Mu3A-adaptin (AP3M1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y2T2

UniProtKB/Swiss-Prot:

AP3M1_HUMAN :
  • Belongs to the adaptor complexes medium subunit family.
Family:
  • Belongs to the adaptor complexes medium subunit family.
genes like me logo Genes that share domains with AP3M1: view

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.

Phenotypes From GWAS Catalog for AP3M1 Gene

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

CRISPR Products

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AP3M1 gene
Compartment Confidence
lysosome 4
golgi apparatus 3
nucleus 2
cytosol 2
plasma membrane 1
endosome 1
mitochondrion 0

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 HDA 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AP3M1 Gene

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:0006886 intracellular protein transport IEA --
GO:0008089 anterograde axonal transport ISS --
GO:0015031 protein transport IEA --
GO:0016032 viral process IEA --
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

mRNA/cDNA for AP3M1 Gene

5 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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

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, MaxQB, and MOPED for AP3M1 Gene



Protein tissue co-expression partners for AP3M1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AP3M1

SOURCE GeneReport for Unigene cluster for AP3M1 Gene:

Hs.500104

Evidence on tissue expression from TISSUES for AP3M1 Gene

  • Eye(4.2)
  • Skin(4.2)
  • Blood(4.1)
  • Nervous system(4.1)
  • Intestine(2.3)
genes like me logo Genes that share expression patterns with AP3M1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 31
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AP3M1 31 30
  • 99.76 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 97 (a)
OneToMany
-- 31
  • 83 (a)
OneToMany
dog
(Canis familiaris)
Mammalia AP3M1 31 30
  • 95.61 (n)
OneToOne
cow
(Bos Taurus)
Mammalia AP3M1 31 30
  • 95.3 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ap3m1 30
  • 93.06 (n)
mouse
(Mus musculus)
Mammalia Ap3m1 17 31 30
  • 92.9 (n)
chicken
(Gallus gallus)
Aves AP3M1 31 30
  • 82.78 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AP3M1 31
  • 88 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ap3m1 31 30 30
  • 72.49 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta cm 31 32
  • 69 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea apm-3 31 30
  • 62.88 (n)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APM1 31
  • 23 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os.18281 30
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for AP3M1: view image

Paralogs for AP3M1 Gene

Paralogs for AP3M1 Gene

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

  • AP3M1_HUMAN
genes like me logo Genes that share paralogs with AP3M1: view

Variants for AP3M1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AP3M1 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
rs200756813 Uncertain Significance: Dilated Cardiomyopathy, Dominant 74,120,018(-) A/AC THREE_PRIME_UTR_VARIANT
rs3037361 Uncertain Significance: Dilated Cardiomyopathy, Dominant. Uncertain Significance: Dilated Cardiomyopathy, Dominant 74,120,011(-) T/TAAT/TAAA THREE_PRIME_UTR_VARIANT
rs3829204 Likely Benign: Dilated Cardiomyopathy, Dominant 74,120,023(-) A/C THREE_PRIME_UTR_VARIANT
rs529702817 Uncertain Significance: Dilated Cardiomyopathy, Dominant 74,120,060(-) G/A THREE_PRIME_UTR_VARIANT
rs554923257 Likely Benign: Dilated Cardiomyopathy, Dominant 74,120,022(-) A/C THREE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for AP3M1 Gene

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)

Additional Variant Information for AP3M1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AP3M1

SNP Genotyping and Copy Number Assay Products

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

Disorders for AP3M1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for AP3M1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hermansky-pudlak syndrome
  • albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
testicular leukemia
- elite association - COSMIC cancer census association via MalaCards
Search AP3M1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AP3M1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with AP3M1: view

No data available for 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 EC … Bonifacino JS (Molecular cell 1999) 2 3 4 54
  2. Association analysis between schizophrenia and the AP-3 complex genes. (PMID: 19481122) Hashimoto R … Kunugi H (Neuroscience research 2009) 3 41 54
  3. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 41 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for AP3M1 Gene

Sources for AP3M1 Gene