Ap2m1 adaptor related protein complex 2 subunit mu 1 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Ap2m1provided by RGD
Official Full Name: adaptor related protein complex 2 subunit mu 1provided by RGD
Primary source: RGD:620135
See related: Ensembl:ENSRNOG00000001709 AllianceGenome:RGD:620135
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: mu2; Ap50; Clapm1
Summary: Enables low-density lipoprotein particle receptor binding activity and signal sequence binding activity. Involved in positive regulation of endocytosis; protein-containing complex assembly; and vesicle-mediated transport in synapse. Located in terminal bouton. Part of AP-2 adaptor complex. Is active in glutamatergic synapse. Human ortholog(s) of this gene implicated in autosomal dominant non-syndromic intellectual disability. Orthologous to human AP2M1 (adaptor related protein complex 2 subunit mu 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in Brain (RPKM 970.7), Kidney (RPKM 625.9) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 11q23

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	11	NC_086029.1 (93859690..93868600, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	11	NC_051346.1 (80355307..80364218, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	11	NC_005110.4 (84041184..84047542, complement)

Chromosome 11 - NC_086029.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Our data reveal that AP-2 has important roles in functional axogenesis by proper extension of axon as well as the formation of AIS during the early step of neurodevelopment.
Title: Adaptor Protein 2 (AP-2) complex is essential for functional axogenesis in hippocampal neurons.
-2 plays a role in cargo selection but no single aspect of mu2 function is critical, implying that a more distributed network of interactions supports AP-2 function in SV endocytosis
Title: A distributed set of interactions controls mu2 functionality in the role of AP-2 as a sorting adaptor in synaptic vesicle endocytosis.
identify a gamma2-subunit-specific Yxxvarphi-type-binding motif for the clathrin adaptor protein, AP2, which is located within a site for gamma2-subunit tyrosine phosphorylation.
Title: Regulation of synaptic inhibition by phospho-dependent binding of the AP2 complex to a YECL motif in the GABAA receptor gamma2 subunit.

Submit: New GeneRIF Correction

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH128689 (e-PCR)
- UniSTS:211997

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

AA874911 (e-PCR)
- UniSTS:245487

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables clathrin adaptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables disordered domain specific binding	ISO Inferred from Sequence Orthology more info
enables lipid binding	IEA Inferred from Electronic Annotation more info
enables low-density lipoprotein particle receptor binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signal sequence binding	IDA Inferred from Direct Assay more info	PubMed
enables signal sequence binding	ISO Inferred from Sequence Orthology 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	ISO Inferred from Sequence Orthology more info
involved_in endocytosis	IEA Inferred from Electronic Annotation more info
involved_in intracellular protein transport	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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of synaptic vesicle endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in postsynaptic neurotransmitter receptor internalization	EXP Inferred from Experiment more info	PubMed
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 protein-containing complex assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in receptor internalization	ISO Inferred from Sequence Orthology more info
involved_in regulation of vesicle size	ISO Inferred from Sequence Orthology more info
involved_in synaptic vesicle endocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in synaptic vesicle endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in synaptic vesicle endocytosis	ISO Inferred from Sequence Orthology more info
involved_in vesicle budding from membrane	ISO Inferred from Sequence Orthology more info

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 clathrin adaptor complex	IEA Inferred from Electronic Annotation more info
located_in clathrin-coated pit	IEA Inferred from Electronic Annotation more info
located_in clathrin-coated pit	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasmic vesicle	IBA Inferred from Biological aspect of Ancestor more info
is_active_in extrinsic component of presynaptic endocytic zone membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in extrinsic component of presynaptic endocytic zone membrane	NAS Non-traceable Author Statement more info	PubMed
is_active_in glutamatergic synapse	EXP Inferred from Experiment more info	PubMed
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 plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynapse	IEA Inferred from Electronic Annotation more info
is_active_in synapse	ISO Inferred from Sequence Orthology more info
is_active_in synaptic vesicle	EXP Inferred from Experiment more info	PubMed
is_active_in synaptic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in terminal bouton	HDA more info	PubMed

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; adapter-related protein complex 2 subunit mu; adaptor protein complex AP-2 subunit mu; adaptor-related protein complex 2 subunit mu; adaptor-related protein complex 2, mu 1 subunit; 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; coat assembly protein complex 50 kD; 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_053837.2 → NP_446289.1 AP-2 complex subunit mu

See identical proteins and their annotated locations for NP_446289.1

Status: VALIDATED

Source sequence(s)

JAXUCZ010000011

UniProtKB/Swiss-Prot

P84092

UniProtKB/TrEMBL

A0A8I5ZME4

Related

ENSRNOP00000070202.1, ENSRNOT00000088821.2

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

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086029.1 Reference GRCr8

Range

93859690..93868600 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_039087902.1 → XP_038943830.1 AP-2 complex subunit mu isoform X1

UniProtKB/TrEMBL

A0A140TAH5, A0A8I5ZME4

Related

ENSRNOP00000054900.5, ENSRNOT00000058092.5

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
XM_063270241.1 → XP_063126311.1 AP-2 complex subunit mu isoform X2

UniProtKB/TrEMBL

A6JSB0