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

Gene ID: 26985, updated on 11-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (74120255..74150828, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (74991657..75022213, complement)
105.20220307 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: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. 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
  2. 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
  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. Structural basis for the recognition of tyrosine-based sorting signals by the μ3A subunit of the AP-3 adaptor complex. Mardones GA, et al. J Biol Chem, 2013 Mar 29. PMID 23404500, Free PMC Article

See all (93) 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)

Genotypes

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 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 

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_2023_10

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

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