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

Gene ID: 10053, updated on 3-Apr-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
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Genomic context

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Location:
19p13.2
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (10572671..10587312, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (10699125..10713780, complement)
105.20220307 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
  • 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. Luteolin, a flavonoid, inhibits AP-1 activation by basophils. Hirano T, et al. Biochem Biophys Res Commun, 2006 Feb 3. PMID 16343431
  4. 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
  5. 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

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_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
    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

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