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    AP3M1 adaptor related protein complex 3 subunit mu 1 [ Homo sapiens (human) ]

    Gene ID: 26985, updated on 10-Dec-2024

    Summary

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    Official Symbol
    AP3M1provided by HGNC
    Official Full Name
    adaptor related protein complex 3 subunit mu 1provided by HGNC
    Primary source
    HGNC:HGNC:569
    See related
    Ensembl:ENSG00000185009 MIM:610366; AllianceGenome:HGNC:569
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    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]
    Expression
    Ubiquitous expression in placenta (RPKM 10.7), thyroid (RPKM 10.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AP3M1 in Genome Data Viewer
    Location:
    10q22.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (74120255..74150828, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (74991657..75022213, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (75880013..75910586, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902455 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3588 Neighboring gene uncharacterized LOC124902458 Neighboring gene vinculin Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3589 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3590 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3591 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:75935560-75936506 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3593 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:75966236-75966768 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:75966769-75967299 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3594 Neighboring gene uncharacterized LOC124902456 Neighboring gene adenosine kinase Neighboring gene TIMM9 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. The assembly of AP-3 adaptor complex-containing clathrin-coated vesicles on synthetic liposomes. Drake MT, et al. Mol Biol Cell, 2000 Nov. PMID 11071902, Free PMC Article
    2. Adaptor protein complexes AP-1 and AP-3 are required by the HHV-7 Immunoevasin U21 for rerouting of class I MHC molecules to the lysosomal compartment. Kimpler LA, et al. PLoS One, 2014. PMID 24901711, Free PMC Article
    3. Downregulation of genes encoding for subunits of adaptor complex-3 in cervical carcinomas. Petrenko AA, et al. Biochemistry (Mosc), 2006 Oct. PMID 17125464
    4. Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. Dell'Angelica EC, et al. Mol Cell, 1999 Jan. PMID 10024875
    5. A di-leucine-based motif in the cytoplasmic tail of LIMP-II and tyrosinase mediates selective binding of AP-3. Höning S, et al. EMBO J, 1998 Aug 10. PMID 9482728, Free PMC Article

    See all (103) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Structural basis for the recognition of tyrosine-based sorting signals by the mu3A subunit of the AP-3 adaptor complex
      Title: Structural basis for the recognition of tyrosine-based sorting signals by the μ3A subunit of the AP-3 adaptor complex.
    2. Data indicate that AP-3 facilitates PAR1 interaction with ALIX.
      Title: AP-3 regulates PAR1 ubiquitin-independent MVB/lysosomal sorting via an ALIX-mediated pathway.
    3. results demonstrate that the intact and stable AP-3 complex is required for HIV-1 assembly and release, and the involvement of the AP-3 complex in late stages of the HIV-1 replication cycle is independent of clathrin-mediated endocytosis
      Title: Defective HIV-1 particle assembly in AP-3-deficient cells derived from patients with Hermansky-Pudlak syndrome type 2.
    4. The present results suggest that AP3 complex genes might not play a major role in the pathogenesis of schizophrenia.
      Title: Association analysis between schizophrenia and the AP-3 complex genes.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association analysis between schizophrenia and the AP-3 complex genes.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env In the absence of Vpu, Env accumulates extensively within clathrin-coated endosomal structures, including the viral proteins Gag and MA; the tetraspanins CD63 and CD81; the adaptor protein complex AP-3; and AIP1/ALIX, a cellular cofactor for viral budding PubMed
    Nef nef The Nef dileucine motif (amino acids 164-5) is required for the interaction of HIV-1 Nef with the mu subunit of adaptor protein complex 3 (AP-3) PubMed
    Pr55(Gag) gag In the absence of Vpu, Env accumulates extensively within clathrin-coated endosomal structures, including the viral proteins Gag and MA; the tetraspanins CD63 and CD81; the adaptor protein complex AP-3; and AIP1/ALIX, a cellular cofactor for viral budding PubMed
    gag AP3M1 deficiency in HPS2 fibroblasts inhibits HIV-1 Gag assembly and release PubMed
    matrix gag In the absence of Vpu, Env accumulates extensively within clathrin-coated endosomal structures, including the viral proteins Gag and MA; the tetraspanins CD63 and CD81; the adaptor protein complex AP-3; and AIP1/ALIX, a cellular cofactor for viral budding PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC22164

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables small GTPase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in anterograde axonal transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in anterograde synaptic vesicle transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in clathrin-coated vesicle cargo loading, AP-3-mediated NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intracellular transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in melanosome assembly NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in platelet dense granule organization NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in postsynaptic neurotransmitter receptor internalization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein targeting to lysosome TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in vesicle-mediated transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of AP-3 adaptor complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in axon cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of clathrin adaptor complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytoplasmic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasmic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in early endosome NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in lysosomal membrane HDA PubMed 
    located_in lysosome TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in postsynaptic recycling endosome IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    AP-3 complex subunit mu-1
    Names
    AP-3 adapter complex mu3A subunit
    adapter-related protein complex 3 mu-1 subunit
    adaptor related protein complex 3 mu 1 subunit
    clathrin adaptor complex AP3, mu-3A subunit
    mu-adaptin 3A
    mu3A-adaptin

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001320263.2 → NP_001307192.1  AP-3 complex subunit mu-1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an additional exon in the 5' UTR, compared to variant 1. Variants 1, 2, 3 and 4 all encode isoform a.
      Source sequence(s)
      AL731576, BC026232, BU679701, DC323908, DC418192
      Consensus CDS
      CCDS7342.1
      UniProtKB/Swiss-Prot
      Q5JQ12, Q9H5L2, Q9Y2T2
      Conserved Domains (2) summary
      cd09260
      Location:165 → 418
      AP-3_Mu3A_Cterm; C-terminal domain of medium Mu3A subunit in ubiquitously expressed adaptor protein (AP) complex AP-3
      cd14837
      Location:3 → 141
      AP3_Mu_N; AP-3 complex subunit mu N-terminal domain

    2. NM_001320264.2 → NP_001307193.1  AP-3 complex subunit mu-1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate 5' terminal exon and lacks an alternate exon in the 5' UTR, compared to variant 1. Variants 1, 2, 3 and 4 all encode isoform a.
      Source sequence(s)
      AL731576, BC067127, BU679701, DA503150
      Consensus CDS
      CCDS7342.1
      UniProtKB/Swiss-Prot
      Q5JQ12, Q9H5L2, Q9Y2T2
      Conserved Domains (2) summary
      cd09260
      Location:165 → 418
      AP-3_Mu3A_Cterm; C-terminal domain of medium Mu3A subunit in ubiquitously expressed adaptor protein (AP) complex AP-3
      cd14837
      Location:3 → 141
      AP3_Mu_N; AP-3 complex subunit mu N-terminal domain

    3. NM_001320265.2 → NP_001307194.1  AP-3 complex subunit mu-1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an alternate exon in the 5' UTR and uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
      Source sequence(s)
      AK299352, AL731576, BU679701
      UniProtKB/TrEMBL
      B4DRN6
      Conserved Domains (2) summary
      cd09260
      Location:111 → 364
      AP-3_Mu3A_Cterm; C-terminal domain of medium Mu3A subunit in ubiquitously expressed adaptor protein (AP) complex AP-3
      cd14837
      Location:3 → 96
      AP3_Mu_N; AP-3 complex subunit mu N-terminal domain

    4. NM_012095.6 → NP_036227.1  AP-3 complex subunit mu-1 isoform a

      See identical proteins and their annotated locations for NP_036227.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR, compared to variant 1. Variants 1, 2, 3 and 4 all encode isoform a.
      Source sequence(s)
      AK026983, AL731576, BC026232, BU679701, DC418192
      Consensus CDS
      CCDS7342.1
      UniProtKB/Swiss-Prot
      Q5JQ12, Q9H5L2, Q9Y2T2
      Related
      ENSP00000347408.4, ENST00000355264.9
      Conserved Domains (2) summary
      cd09260
      Location:165 → 418
      AP-3_Mu3A_Cterm; C-terminal domain of medium Mu3A subunit in ubiquitously expressed adaptor protein (AP) complex AP-3
      cd14837
      Location:3 → 141
      AP3_Mu_N; AP-3 complex subunit mu N-terminal domain

    5. NM_207012.4 → NP_996895.1  AP-3 complex subunit mu-1 isoform a

      See identical proteins and their annotated locations for NP_996895.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a). Variants 1, 2, 3 and 4 all encode isoform a.
      Source sequence(s)
      AL731576, BC026232, BU679701
      Consensus CDS
      CCDS7342.1
      UniProtKB/Swiss-Prot
      Q5JQ12, Q9H5L2, Q9Y2T2
      Related
      ENSP00000361831.1, ENST00000372745.1
      Conserved Domains (2) summary
      cd09260
      Location:165 → 418
      AP-3_Mu3A_Cterm; C-terminal domain of medium Mu3A subunit in ubiquitously expressed adaptor protein (AP) complex AP-3
      cd14837
      Location:3 → 141
      AP3_Mu_N; AP-3 complex subunit mu N-terminal domain

    RNA

    1. NR_135191.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks an alternate exon in the 5' region and uses an alternate splice site in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK026983, AL731576, BC026232, BU679701, DA174180, DC418192

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      74120255..74150828 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024447939.2 → XP_024303707.1  AP-3 complex subunit mu-1 isoform X1

      UniProtKB/Swiss-Prot
      Q5JQ12, Q9H5L2, Q9Y2T2
      Conserved Domains (2) summary
      cd09260
      Location:165 → 418
      AP-3_Mu3A_Cterm; C-terminal domain of medium Mu3A subunit in ubiquitously expressed adaptor protein (AP) complex AP-3
      cd14837
      Location:3 → 141
      AP3_Mu_N; AP-3 complex subunit mu N-terminal domain

    2. XM_047425054.1 → XP_047281010.1  AP-3 complex subunit mu-1 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      74991657..75022213 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054365543.1 → XP_054221518.1  AP-3 complex subunit mu-1 isoform X1

      UniProtKB/Swiss-Prot
      Q5JQ12, Q9H5L2, Q9Y2T2

    2. XM_054365544.1 → XP_054221519.1  AP-3 complex subunit mu-1 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y2T2.1 GenPept UniProtKB/Swiss-Prot:Q9Y2T2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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