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

Gene ID: 26985, updated on 21-Dec-2019

Summary

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
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

Genomic context

See AP3M1 in Genome Data Viewer
Location:
10q22.2
Exon count:
11
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (74120012..74151067, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (75880015..75910826, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr10.2662 Neighboring gene uncharacterized LOC107984244 Neighboring gene vinculin Neighboring gene adenosine kinase Neighboring gene TIMM9 pseudogene 1 Neighboring gene ribosomal protein SA pseudogene 6

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC22164

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Rab GTPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
anterograde axonal transport ISS
Inferred from Sequence or Structural Similarity
more info
 
anterograde synaptic vesicle transport ISS
Inferred from Sequence or Structural Similarity
more info
 
protein targeting to lysosome TAS
Traceable Author Statement
more info
PubMed 
vesicle-mediated transport IEA
Inferred from Electronic Annotation
more info
 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
axon cytoplasm IEA
Inferred from Electronic Annotation
more info
 
clathrin adaptor complex IEA
Inferred from Electronic Annotation
more info
 
cytoplasmic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
lysosomal membrane HDA PubMed 
lysosome TAS
Traceable Author Statement
more info
PubMed 

General protein information

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)

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_001320263.2NP_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
    Q9Y2T2
    UniProtKB/TrEMBL
    A0A024QZR5
    Conserved Domains (2) summary
    cd09260
    Location:165418
    AP-3_Mu3A_Cterm; C-terminal domain of medium Mu3A subunit in ubiquitously expressed adaptor protein (AP) complex AP-3
    cd14837
    Location:3141
    AP3_Mu_N; AP-3 complex subunit mu N-terminal domain
  2. NM_001320264.2NP_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
    Q9Y2T2
    UniProtKB/TrEMBL
    A0A024QZR5
    Conserved Domains (2) summary
    cd09260
    Location:165418
    AP-3_Mu3A_Cterm; C-terminal domain of medium Mu3A subunit in ubiquitously expressed adaptor protein (AP) complex AP-3
    cd14837
    Location:3141
    AP3_Mu_N; AP-3 complex subunit mu N-terminal domain
  3. NM_001320265.2NP_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 (1) summary
    cd09260
    Location:111364
    AP-3_Mu3A_Cterm; C-terminal domain of medium Mu3A subunit in ubiquitously expressed adaptor protein (AP) complex AP-3
  4. NM_012095.6NP_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
    Q9Y2T2
    UniProtKB/TrEMBL
    A0A024QZR5
    Related
    ENSP00000347408.4, ENST00000355264.8
    Conserved Domains (2) summary
    cd09260
    Location:165418
    AP-3_Mu3A_Cterm; C-terminal domain of medium Mu3A subunit in ubiquitously expressed adaptor protein (AP) complex AP-3
    cd14837
    Location:3141
    AP3_Mu_N; AP-3 complex subunit mu N-terminal domain
  5. NM_207012.4NP_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
    Q9Y2T2
    UniProtKB/TrEMBL
    A0A024QZR5
    Related
    ENSP00000361831.1, ENST00000372745.1
    Conserved Domains (2) summary
    cd09260
    Location:165418
    AP-3_Mu3A_Cterm; C-terminal domain of medium Mu3A subunit in ubiquitously expressed adaptor protein (AP) complex AP-3
    cd14837
    Location:3141
    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: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    74120012..74151067 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (2) summary
    cd09260
    Location:165418
    AP-3_Mu3A_Cterm; C-terminal domain of medium Mu3A subunit in ubiquitously expressed adaptor protein (AP) complex AP-3
    cd14837
    Location:3141
    AP3_Mu_N; AP-3 complex subunit mu N-terminal domain

RNA

  1. XR_001747091.2 RNA Sequence

  2. XR_001747092.2 RNA Sequence

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