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    AP1M1 adaptor related protein complex 1 subunit mu 1 [ Homo sapiens (human) ]

    Gene ID: 8907, updated on 7-Jul-2024

    Summary

    Official Symbol
    AP1M1provided by HGNC
    Official Full Name
    adaptor related protein complex 1 subunit mu 1provided by HGNC
    Primary source
    HGNC:HGNC:13667
    See related
    Ensembl:ENSG00000072958 MIM:603535; AllianceGenome:HGNC:13667
    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
    Also known as
    AP47; mu1A; CLTNM; MU-1A; CLAPM2
    Summary
    The protein encoded by this gene is the medium chain of the trans-Golgi network clathrin-associated protein complex AP-1. The other components of this complex are beta-prime-adaptin, gamma-adaptin, and the small chain AP1S1. This complex is located at the Golgi vesicle and links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. Alternatively spliced transcript variants encoding distinct protein isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 31.3), brain (RPKM 17.8) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See AP1M1 in Genome Data Viewer
    Location:
    19p13.11
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (16197911..16245906)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (16331982..16379983)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (16308722..16356717)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 5225 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14216 Neighboring gene calcium and integrin binding family member 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:16293505-16294004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:16295228-16295863 Neighboring gene uncharacterized LOC124904646 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10292 Neighboring gene family with sequence similarity 32 member A Neighboring gene ReSE screen-validated silencer GRCh37_chr19:16315239-16315388 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:16334661-16335161 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:16362883-16363384 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:16363385-16363884 Neighboring gene KLF2-I enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14218 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14219 Neighboring gene MPRA-validated peak3390 silencer Neighboring gene KLF2 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14220 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10293 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14221 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:16435432-16436204 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:16436205-16436975 Neighboring gene KLF transcription factor 2

    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?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 is identified to have a physical interaction with adaptor-related protein complex 1, mu 1 subunit (AP1M1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
    env Two tyrosine-based endocytic signals (residues 704-710 and 760-766) in the cytosolic tail (gp41) of the HIV-1 envelope glycoprotein (Env) complex interact with members of the adaptor medium chain family, AP-1 mu1, AP-2 mu2 and AP-3 mu3A PubMed
    Envelope transmembrane glycoprotein gp41 env The cytoplasmic domain (residues 707-856) of HIV-1 gp41 interacts with whole clathrin-associated AP-1 and AP-2 adaptor complexes PubMed
    env The highly conserved C-terminal dileucine motif (residues 851-856) in the cytosolic domain of HIV-1 gp41 interacts with clathrin-associated AP-1 adaptor complexes PubMed
    env Two tyrosine-based endocytic signals (residues 704-710 and 760-766) in the cytosolic tail (gp41) of the HIV-1 envelope glycoprotein (Env) complex interact with members of the adaptor medium chain family, AP-1 mu1, AP-2 mu2 and AP-3 mu3A PubMed
    Nef nef HIV-1 Nef downregulates CD4 and MHC I by connecting these receptors with the endocytic machinery through direct interactions between Nef and the mu medium chains of AP complexes, essential components of clathrin-coated pits PubMed
    nef Two distinct regions in Nef, from amino acids 140-150 and from 180-190, can both interact with the mu subunit of the adaptor protein complex 1 (AP-1) PubMed
    nef A leucine-based motif near the C-terminus of HIV-1 Nef interacts with AP-1 complexes; residues 164 and 165 in Nef are required for the interaction with AP-1 PubMed
    nef Adaptor-related protein complex 1 (AP-1) is necessary for cross-presentation by MHC-I HLA-A and HLA-B molecules containing a cytoplasmic tail tyrosine signal and that HIV-1 Nef inhibits the cross-presentation in antigen-presenting cells PubMed
    nef Dominant active ARF1 (Q71L) potently stabilizes interactions among AP-1 mu1, HIV-1 Nef, and HLA-A2 and that the formation of a static complex sequesters necessary trafficking components PubMed
    nef A quadruple mutation of mu 1 (K274E/K298E/K302E/R303D) abolishes binding to HIV-1 Nef, but a complementary mutation in the acidic cluster in Nef (62EEEE65 to 62KKKK65) restores their interaction PubMed
    nef Asp327 and Tyr320 of MHC-I, Asp123 of Nef, and Arg225, Arg393, Lys396, Arg211, and Arg246 of mu 1 are involved in a crucial three-way electrostatic network, which results in the Nef-MHC-I CD-mu 1 complex formation PubMed
    nef Exogenous Nef and TNF-alpha synergistically activate NF-kappaB and AP-1 resulting in enhancing viral replication in both chronically infected promonocytic cells and acutely infected primary macrophages PubMed
    nef HIV-1 Nef acidic (Glu62-65) and polyproline domains (Pro75/78) stabilize the interaction between the HLA-A2/Nef fusion protein and AP-1 mu1 PubMed
    nef The mu1 subunit of AP-1 uses its canonical tyrosine binding pocket for Nef-induced downregulation of HLA-A2. M20 is the only amino acid in the N-terminal domain of Nef needed for HLA-A2 downregulation PubMed
    nef Mutating three amino acids (Y320, A324, and D327) in the cytoplasmic tail of HLA-A2 abrogates Nef-induced downregulation of HLA-A2 through a failuer to recruit the mu1 or gamma subunits of AP-1 PubMed
    nef Knocking down either AP-1 gamma, AP-1 mu1, or clathrin strongly inhibits Nef-induced downregulation of HLA-A2 PubMed
    nef A fusion protein, composed of the cytoplasmic domain (CD) of MHC-I and HIV-1 Nef, shows its binding to the mu subunit of AP-1, which requires the tyrosine residue of the YSQA sequence in the MHC-I CD and Nef residues E62-65 and P78 PubMed
    nef HIV-1 Nef acts in cis to induce the rapid endocytosis of CD8-Nef fusion proteins via binding to the mu 1 chain of the adaptor protein type 1 (AP1) complex PubMed
    nef HIV-1 Nef stabilizes AP-1 complexes on endosomal membranes after ADP-ribosylation factor-1 (ARF1) -dependent attachment PubMed
    Pr55(Gag) gag HIV-1 Gag mutant lacking the matrix domain is insensitive to AP-1 mu depletion, suggesting that AP-1 mu participates in HIV-1 release through a direct interaction with the MA domain of Gag PubMed
    gag HIV-1 Gag interacts with adaptor complex AP-1 mu in vitro. The release of HIV-1 Gag is inhibited by silencing AP-1 mu in cells PubMed
    Vpu vpu HIV-1 Vpu physically interacts with the mu subunit of adaptor-related protein complex 1 (AP1) in cells, and Vpu R44 and L/I45 potentially interact with the mu 1 subunit PubMed
    vpu Fusion of the Vpu cytoplasmic domain (residues 28-80) to the BST2 cytoplasmic domain (residues 1-21) enhances binding to the beta, mu, and sigma subunits of adaptor-related protein complex 1 (AP1) in cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables clathrin adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in endosome to melanosome transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in intracellular protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in melanosome assembly NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in melanosome organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in platelet dense granule organization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in vesicle-mediated transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of AP-1 adaptor complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in clathrin-coated vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasmic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in early endosome NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in lysosomal membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in lysosomal membrane TAS
    Traceable Author Statement
    more info
     
    located_in membrane HDA PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in specific granule membrane TAS
    Traceable Author Statement
    more info
     
    located_in trans-Golgi network membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in trans-Golgi network membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    AP-1 complex subunit mu-1
    Names
    AP-mu chain family member mu1A
    HA1 47 kDa subunit
    adapter-related protein complex 1 subunit mu-1
    adaptor protein complex AP-1 mu-1 subunit
    adaptor protein complex AP-1 subunit mu-1
    adaptor related protein complex 1 mu 1 subunit
    clathrin adaptor protein AP47
    clathrin assembly protein complex 1 medium chain 1
    clathrin assembly protein complex 1 mu-1 medium chain 1
    clathrin assembly protein complex 1, medium chain
    clathrin assembly protein complex AP1, mu subunit
    clathrin coat assembly protein AP47
    clathrin coat-associated protein AP47
    golgi adaptor AP-1 47 kDa protein
    golgi adaptor HA1/AP1 adaptin mu-1 subunit
    mu-adaptin 1
    mu1A-adaptin

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001130524.2NP_001123996.1  AP-1 complex subunit mu-1 isoform 1

      See identical proteins and their annotated locations for NP_001123996.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AB209808, AC020911, BQ014582, BU729646, DC386056, DQ059565
      Consensus CDS
      CCDS46008.1
      UniProtKB/TrEMBL
      B3KNH5
      Related
      ENSP00000388996.1, ENST00000444449.6
      Conserved Domains (2) summary
      cd09258
      Location:153434
      AP-1_Mu1A_Cterm; C-terminal domain of medium Mu1A subunit in ubiquitously expressed clathrin-associated adaptor protein (AP) complex AP-1
      cd14835
      Location:4142
      AP1_Mu_N; AP-1 complex subunit mu N-terminal domain
    2. NM_032493.4NP_115882.1  AP-1 complex subunit mu-1 isoform 2

      See identical proteins and their annotated locations for NP_115882.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks a coding exon in the middle region, as compared to variant 1. The reading frame is not affected and the resulting isoform (2) lacks an internal segment, as compared to isoform 1.
      Source sequence(s)
      AC020911, AK027528, BC017469, BQ014582, BU729646, DC386056
      Consensus CDS
      CCDS12342.1
      UniProtKB/Swiss-Prot
      Q4TTY5, Q9BXS5
      UniProtKB/TrEMBL
      B3KNH5
      Related
      ENSP00000291439.2, ENST00000291439.8
      Conserved Domains (2) summary
      cd09258
      Location:153422
      AP-1_Mu1A_Cterm; C-terminal domain of medium Mu1A subunit in ubiquitously expressed clathrin-associated adaptor protein (AP) complex AP-1
      cd14835
      Location:4142
      AP1_Mu_N; AP-1 complex subunit mu N-terminal domain

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      16197911..16245906
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      16331982..16379983
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)