Ap2m1 adaptor-related protein complex 2, mu 1 subunit [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ap2m1provided by MGI
Official Full Name: adaptor-related protein complex 2, mu 1 subunitprovided by MGI
Primary source: MGI:MGI:1298405
See related: Ensembl:ENSMUSG00000022841 AllianceGenome:MGI:1298405
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: This gene encodes the mu subunit of the clathrin adaptor protein complex AP-2. It mediates sorting of cargo proteins harboring Y-X-X-Phi motifs into clathrin-coated vesicles. Alternate splicing of this gene results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 2, 8 and 19. [provided by RefSeq, Dec 2014]
Expression: Ubiquitous expression in CNS E18 (RPKM 166.3), whole brain E14.5 (RPKM 141.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 16 A3; 16 12.46 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	16	NC_000082.7 (20354230..20363659)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	16	NC_000082.6 (20535480..20544909)

Chromosome 16 - NC_000082.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Binding of AP-2 to otoferlin facilitates replenishment of release sites, for example, via speeding AZ clearance of exocytosed material, in addition to a role of AP-2 in synaptic vesicle reformation.
Title: Disruption of adaptor protein 2μ (AP-2μ) in cochlear hair cells impairs vesicle reloading of synaptic release sites and hearing.
Data shsow that mutation of residues at the DEP-mu2 contact or in the tyrosine motif reduce affinity of Dvl2 for mu2.
Title: Structural analysis of the interaction between Dishevelled2 and clathrin AP-2 adaptor, a critical step in noncanonical Wnt signaling.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH127970 (e-PCR)
- UniSTS:211280

Ap2m1 (e-PCR), detects polymorphism
- UniSTS:506732

D19228 (e-PCR)
- UniSTS:124794

NoName (e-PCR)
- UniSTS:237470

RH136402 (e-PCR)
- UniSTS:210392

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables clathrin adaptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables disordered domain specific binding	IDA Inferred from Direct Assay more info	PubMed
enables lipid binding	IEA Inferred from Electronic Annotation more info
enables low-density lipoprotein particle receptor binding	IEA Inferred from Electronic Annotation more info
enables low-density lipoprotein particle receptor binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signal sequence binding	IEA Inferred from Electronic Annotation more info
enables signal sequence binding	ISO Inferred from Sequence Orthology more info
enables transmembrane transporter binding	IEA Inferred from Electronic Annotation more info
enables transmembrane transporter binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in clathrin-dependent endocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in clathrin-dependent endocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in clathrin-dependent endocytosis	ISO Inferred from Sequence Orthology more info
involved_in clathrin-dependent endocytosis	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within intracellular protein transport	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of protein localization to plasma membrane	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of protein localization to plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of receptor internalization	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of receptor internalization	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of synaptic vesicle endocytosis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of synaptic vesicle endocytosis	ISO Inferred from Sequence Orthology more info
involved_in postsynaptic neurotransmitter receptor internalization	IDA Inferred from Direct Assay more info	PubMed
involved_in postsynaptic neurotransmitter receptor internalization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in postsynaptic neurotransmitter receptor internalization	ISO Inferred from Sequence Orthology more info
involved_in postsynaptic neurotransmitter receptor internalization	NAS Non-traceable Author Statement more info	PubMed
involved_in protein-containing complex assembly	IEA Inferred from Electronic Annotation more info
involved_in protein-containing complex assembly	ISO Inferred from Sequence Orthology more info
involved_in receptor internalization	ISO Inferred from Sequence Orthology more info
involved_in regulation of vesicle size	IEA Inferred from Electronic Annotation more info
involved_in regulation of vesicle size	ISO Inferred from Sequence Orthology more info
involved_in synaptic vesicle endocytosis	IEA Inferred from Electronic Annotation more info
involved_in synaptic vesicle endocytosis	ISO Inferred from Sequence Orthology more info
involved_in vesicle budding from membrane	IEA Inferred from Electronic Annotation more info
involved_in vesicle budding from membrane	ISO Inferred from Sequence Orthology more info
involved_in vesicle-mediated transport	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within vesicle-mediated transport	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of AP-2 adaptor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of AP-2 adaptor complex	IDA Inferred from Direct Assay more info	PubMed
part_of AP-2 adaptor complex	ISO Inferred from Sequence Orthology more info
part_of AP-2 adaptor complex	NAS Non-traceable Author Statement more info	PubMed
located_in clathrin-coated pit	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic side of plasma membrane	NAS Non-traceable Author Statement more info	PubMed
is_active_in cytoplasmic vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in extrinsic component of presynaptic endocytic zone membrane	IEA Inferred from Electronic Annotation more info
is_active_in extrinsic component of presynaptic endocytic zone membrane	ISO Inferred from Sequence Orthology more info
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in glutamatergic synapse	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	HDA more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in postsynapse	IEA Inferred from Electronic Annotation more info
located_in secretory granule	TAS Traceable Author Statement more info	PubMed
is_active_in synapse	EXP Inferred from Experiment more info	PubMed
is_active_in synapse	IDA Inferred from Direct Assay more info	PubMed
located_in synaptic vesicle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: AP-2 complex subunit mu

Names: AP-2 mu chain; adapter-related protein complex 2 mu subunit; adaptor protein complex AP-2 subunit mu; adaptor protein complex AP-2, mu1; adaptor-related protein complex 2 subunit mu; adaptor-related protein complex AP-2, mu1; clathrin assembly protein complex 2 medium chain; clathrin assembly protein complex 2 mu medium chain; clathrin coat assembly protein AP50; clathrin coat-associated protein AP50; clathrin-associated AP-2; mu2-adaptin; plasma membrane adaptor AP-2 50 kDa protein

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)

NM_001302970.1 → NP_001289899.1 AP-2 complex subunit mu isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.

Source sequence(s)

AK141862, AK146517, AK172889

Consensus CDS

CCDS79436.1

UniProtKB/TrEMBL

Q3TH69, Q3TWV4, Q6A0C9

Related

ENSMUSP00000087477.7, ENSMUST00000090023.13

Conserved Domains (2) summary

cd09251
Location:166 → 432

AP-2_Mu2_Cterm; C-terminal domain of medium Mu2 subunit in ubiquitously expressed clathrin-associated adaptor protein (AP) complex AP-2

cd14836
Location:1 → 140

AP2_Mu_N; AP-2 complex subunit mu N-terminal domain
NM_009679.3 → NP_033809.1 AP-2 complex subunit mu isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AK141862, AK146517

Consensus CDS

CCDS28048.1

UniProtKB/Swiss-Prot

P84091

UniProtKB/TrEMBL

Q3TH69, Q5FWI9

Related

ENSMUSP00000007216.9, ENSMUST00000007216.9

Conserved Domains (2) summary

cd09251
Location:168 → 434

AP-2_Mu2_Cterm; C-terminal domain of medium Mu2 subunit in ubiquitously expressed clathrin-associated adaptor protein (AP) complex AP-2

cd14836
Location:1 → 140

AP2_Mu_N; AP-2 complex subunit mu N-terminal domain