Ap2a1 adaptor-related protein complex 2, alpha 1 subunit [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ap2a1provided by MGI
Official Full Name: adaptor-related protein complex 2, alpha 1 subunitprovided by MGI
Primary source: MGI:MGI:101921
See related: Ensembl:ENSMUSG00000060279 AllianceGenome:MGI:101921
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Adtaa
Summary: Enables protein kinase binding activity. Involved in clathrin-dependent endocytosis and synaptic vesicle endocytosis. Located in filopodium tip. Part of AP-2 adaptor complex. Is active in glutamatergic synapse and postsynaptic endocytic zone. Is expressed in brain; cranial ganglion; dorsal root ganglion; and liver. Orthologous to human AP2A1 (adaptor related protein complex 2 subunit alpha 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in testis adult (RPKM 120.3), ovary adult (RPKM 49.1) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 B3; 7 29.01 cM

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (44549797..44578914, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (44900373..44929490, complement)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

SP-A transiently enhances the basal protein expression of CHC and alpha-adaptin.
Title: Surfactant Protein A Enhances Constitutive Immune Functions of Clathrin Heavy Chain and Clathrin Adaptor Protein 2.
AP2 protein expression was regulated in a vitamin A-deficiennt mouse developing eye.
Title: Regulation of AP-2 and apoptosis in developing eye in a vitamin A-deficiency model.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Chemically induced (ENU) (2) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Ap2a1 (e-PCR), detects polymorphism
- UniSTS:141096

MARC_13831-13832:1006881711:1 (e-PCR)
- UniSTS:267573

MARC_23449-23450:1027106382:1 (e-PCR)
- UniSTS:268701

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables clathrin adaptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables clathrin adaptor activity	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 protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info
enables protein-containing complex 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 hyaluronan biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of hyaluronan biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of neuron projection development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neuron projection development	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of receptor-mediated endocytosis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of receptor-mediated endocytosis	ISO Inferred from Sequence Orthology more info
involved_in postsynaptic neurotransmitter receptor internalization	NAS Non-traceable Author Statement more info	PubMed
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	NAS Non-traceable Author Statement more info	PubMed
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 apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in basolateral plasma membrane	IEA Inferred from Electronic Annotation more info
located_in basolateral plasma membrane	ISO Inferred from Sequence Orthology more info
located_in clathrin-coated vesicle	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic side of plasma membrane	NAS Non-traceable Author Statement more info	PubMed
located_in filopodium tip	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
part_of membrane coat	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynaptic endocytic zone	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
located_in secretory granule	TAS Traceable Author Statement 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 alpha-1

Names: 100 kDa coated vesicle protein A; adapter-related protein complex 2 alpha-1 subunit; adapter-related protein complex 2 subunit alpha-1; adaptor protein complex AP-2 subunit alpha-1; adaptor protein complex AP-2, alpha 1 subunit; adaptor-related protein complex 2 subunit alpha-1; adaptor-related protein complex AP-2, alpha 1 subunit; alpha-adaptin A; alpha1-adaptin; clathrin assembly protein complex 2 alpha-A large chain; plasma membrane adaptor HA2/AP2 adaptin alpha A subunit

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_001077264.1 → NP_001070732.1 AP-2 complex subunit alpha-1 isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate exon in the coding region compared to variant 1. The resulting protein (isoform b) is shorter but has the same N- and C-termini compared to isoform a.

Source sequence(s)

AK135424, BC031433, CA327188

Consensus CDS

CCDS52238.1

UniProtKB/Swiss-Prot

P17426

Related

ENSMUSP00000103489.4, ENSMUST00000107857.11

Conserved Domains (4) summary

smart00809
Location:733 → 836

Alpha_adaptinC2; Adaptin C-terminal domain

sd00044
Location:332 → 355

HEAT; HEAT repeat [structural motif]

pfam01602
Location:29 → 591

Adaptin_N; Adaptin N terminal region

pfam02296
Location:842 → 950

Alpha_adaptin_C; Alpha adaptin AP2, C-terminal domain
NM_007458.2 → NP_031484.1 AP-2 complex subunit alpha-1 isoform a

See identical proteins and their annotated locations for NP_031484.1

Status: VALIDATED

Description

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

Source sequence(s)

BC031433, CA327188

Consensus CDS

CCDS52239.1

UniProtKB/Swiss-Prot

P17426

Related

ENSMUSP00000127842.2, ENSMUST00000166972.9

Conserved Domains (4) summary

smart00809
Location:755 → 858

Alpha_adaptinC2; Adaptin C-terminal domain

sd00044
Location:332 → 355

HEAT; HEAT repeat [structural motif]

pfam01602
Location:29 → 591

Adaptin_N; Adaptin N terminal region

pfam02296
Location:864 → 972

Alpha_adaptin_C; Alpha adaptin AP2, C-terminal domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

44549797..44578914 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006540569.5 → XP_006540632.1 AP-2 complex subunit alpha-1 isoform X1

Conserved Domains (3) summary

smart00809
Location:679 → 782

Alpha_adaptinC2; Adaptin C-terminal domain

pfam01602
Location:1 → 515

Adaptin_N; Adaptin N terminal region

pfam02296
Location:788 → 896

Alpha_adaptin_C; Alpha adaptin AP2, C-terminal domain
XM_006540570.1 → XP_006540633.1 AP-2 complex subunit alpha-1 isoform X2

Conserved Domains (3) summary

smart00809
Location:403 → 506

Alpha_adaptinC2; Adaptin C-terminal domain

pfam01602
Location:1 → 239

Adaptin_N; Adaptin N terminal region

pfam02296
Location:512 → 620

Alpha_adaptin_C; Alpha adaptin AP2, C-terminal domain