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    AP1M2 adaptor related protein complex 1 subunit mu 2 [ Homo sapiens (human) ]

    Gene ID: 10053, updated on 28-Oct-2024

    Summary

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    Official Symbol
    AP1M2provided by HGNC
    Official Full Name
    adaptor related protein complex 1 subunit mu 2provided by HGNC
    Primary source
    HGNC:HGNC:558
    See related
    Ensembl:ENSG00000129354 MIM:607309; AllianceGenome:HGNC:558
    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
    mu2; MU1B; MU-1B; HSMU1B; AP1-mu2
    Summary
    This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 1 (AP-1), which belongs to the adaptor complexes medium subunits family. This protein is capable of interacting with tyrosine-based sorting signals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
    Expression
    Broad expression in thyroid (RPKM 36.9), duodenum (RPKM 29.9) and 16 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AP1M2 in Genome Data Viewer
    Location:
    19p13.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (10572671..10587312, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (10699125..10713780, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (10683347..10697988, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene autophagy related 4D cysteine peptidase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13975 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13976 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13977 Neighboring gene KRI1 homolog Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:10675791-10676358 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:10676359-10676926 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:10677875-10678382 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13979 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10083 Neighboring gene cyclin dependent kinase inhibitor 2D Neighboring gene MPRA-validated peak3354 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:10703269-10703793 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:10704320-10704844 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13980 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10084 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13981 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10085 Neighboring gene LSM2 pseudogene 1 Neighboring gene solute carrier family 44 member 2 (CTL2 blood group) Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:10734687-10735268 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:10747236-10747758

    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 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. Caco-2 intestinal epithelial cells absorb soybean ferritin by mu2 (AP2)-dependent endocytosis. San Martin CD, et al. J Nutr, 2008 Apr. PMID 18356317, Free PMC Article
    2. Differential recognition of tyrosine-based basolateral signals by AP-1B subunit mu1B in polarized epithelial cells. Sugimoto H, et al. Mol Biol Cell, 2002 Jul. PMID 12134076, Free PMC Article
    3. Cytosolic and membrane-associated proteins involved in the recruitment of AP-1 adaptors onto the trans-Golgi network. Seaman MN, et al. J Biol Chem, 1996 Oct 11. PMID 8810314
    4. Luteolin, a flavonoid, inhibits AP-1 activation by basophils. Hirano T, et al. Biochem Biophys Res Commun, 2006 Feb 3. PMID 16343431
    5. Basolateral sorting of human poliovirus receptor alpha involves an interaction with the mu1B subunit of the clathrin adaptor complex in polarized epithelial cells. Ohka S, et al. Biochem Biophys Res Commun, 2001 Oct 5. PMID 11573956

    See all (58) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The MUDENG Augmentation: A Genesis in Anti-Cancer Therapy?
      Title: The MUDENG Augmentation: A Genesis in Anti-Cancer Therapy?
    2. Variants in AP1M2 gene is associated with thrombosis.
      Title: Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis.
    3. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.
    4. The mechanism of iron absorption from mineralized Soybean ferritin using Caco-2 cells via a mu2-dependent endocytosis mechanism is reported.
      Title: Caco-2 intestinal epithelial cells absorb soybean ferritin by mu2 (AP2)-dependent endocytosis.
    5. The AP1M2 gene was shown to effectively separate these two tumor(chromophobe renal cell carcinoma (RCC) and benign oncocytoma) groups by quantitative reverse transcription-PCR using fresh tissue samples, with similar trends seen on formalin-fixed tissues.
      Title: Gene expression profiling separates chromophobe renal cell carcinoma from oncocytoma and identifies vesicular transport and cell junction proteins as differentially expressed genes.
    6. Results suggest that mu1B interacts with different classes of basolateral targeting signals in distinct ways.
      Title: Differential recognition of tyrosine-based basolateral signals by AP-1B subunit mu1B in polarized epithelial cells.
    7. PIPKIgamma also interacts with the mu subunits of clathrin adaptor protein (AP) complexes
      Title: Type I gamma phosphatidylinositol phosphate kinase modulates adherens junction and E-cadherin trafficking via a direct interaction with mu 1B adaptin.
    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

    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 transmembrane glycoprotein gp41 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 A Tyr-based motif YXXO (residues 712-715) in the cytoplasmic domain of HIV-1 gp41 interacts with the micro1 and micro2 subunits of AP complexes PubMed
    env The cytoplasmic domain (residues 707-856) of HIV-1 gp41 interacts with whole clathrin-associated AP-1 and AP-2 adaptor complexes 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

    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 basolateral protein secretion NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in intracellular protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein targeting TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in vesicle targeting TAS
    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 intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in lysosomal 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

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    Preferred Names
    AP-1 complex subunit mu-2
    Names
    AP-mu chain family member mu1B
    HA1 47 kDa subunit 2
    adaptor protein complex AP-1 mu-2 subunit
    adaptor related protein complex 1 mu 2 subunit
    clathrin assembly protein complex 1 mu-2 medium chain 2
    clathrin coat assembly protein AP47 2
    clathrin coat associated protein AP47 2
    clathrin-associated adaptor medium chain mu2
    golgi adaptor AP-1 47 kDa protein
    golgi adaptor HA1/AP1 adaptin mu-2 subunit
    mu-adaptin 2
    mu1B-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_001300887.2 → NP_001287816.1  AP-1 complex subunit mu-2 isoform 1

      See identical proteins and their annotated locations for NP_001287816.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK222946, AW370781, BC003387, BC005021
      Consensus CDS
      CCDS77234.1
      UniProtKB/TrEMBL
      Q53GI5
      Related
      ENSP00000465685.1, ENST00000590923.5
      Conserved Domains (2) summary
      cl02092
      Location:5 → 137
      Clat_adaptor_s; Clathrin adaptor complex small chain
      cl10970
      Location:154 → 423
      AP_MHD_Cterm; C-terminal domain of adaptor protein (AP) complexes medium mu subunits and its homologs (MHD)

    2. NM_005498.5 → NP_005489.2  AP-1 complex subunit mu-2 isoform 2

      See identical proteins and their annotated locations for NP_005489.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      AF020797, BC005021, BE044092
      Consensus CDS
      CCDS45964.1
      UniProtKB/Swiss-Prot
      B2RDV5, Q9BSI8, Q9Y6Q5
      UniProtKB/TrEMBL
      Q53GI5
      Related
      ENSP00000250244.5, ENST00000250244.11
      Conserved Domains (2) summary
      cl02092
      Location:5 → 137
      Clat_adaptor_s; Clathrin adaptor complex small chain
      cl10970
      Location:154 → 421
      AP_MHD_Cterm; C-terminal domain of adaptor protein (AP) complexes medium mu subunits and its homologs (MHD)

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      10572671..10587312 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047438018.1 → XP_047293974.1  AP-1 complex subunit mu-2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      10699125..10713780 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y6Q5.4 GenPept UniProtKB/Swiss-Prot:Q9Y6Q5

    Gene LinkOut

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

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