Ap2s1 adaptor-related protein complex 2, sigma 1 subunit [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ap2s1provided by MGI
Official Full Name: adaptor-related protein complex 2, sigma 1 subunitprovided by MGI
Primary source: MGI:MGI:2141861
See related: Ensembl:ENSMUSG00000008036 AllianceGenome:MGI:2141861
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
Summary: Predicted to enable clathrin adaptor activity. Predicted to be involved in vesicle-mediated transport. Predicted to act upstream of or within endocytosis. Part of AP-2 adaptor complex. Human ortholog(s) of this gene implicated in familial hypocalciuric hypercalcemia 3. Orthologous to human AP2S1 (adaptor related protein complex 2 subunit sigma 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in duodenum adult (RPKM 68.3), large intestine adult (RPKM 65.1) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 A2; 7 9.15 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (16472369..16483215)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (16738444..16749290)

Chromosome 7 - NC_000073.7 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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

AP2S1 regulates APP degradation through late endosome-lysosome fusion in cells and APP/PS1 mice.
Title: AP2S1 regulates APP degradation through late endosome-lysosome fusion in cells and APP/PS1 mice.
Ap2s1 mutation causes hypercalcaemia in mice and impairs interaction between calcium-sensing receptor and adaptor protein-2.
Title: Ap2s1 mutation causes hypercalcaemia in mice and impairs interaction between calcium-sensing receptor and adaptor protein-2.

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Variation

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Alleles

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

Endonuclease-mediated (5) 1 citation
Chemically induced (ENU) (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables clathrin adaptor activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in clathrin-dependent endocytosis	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within endocytosis	IEA Inferred from Electronic Annotation more info
involved_in intracellular protein transport	IEA Inferred from Electronic Annotation more info
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
acts_upstream_of_or_within protein transport	IEA Inferred from Electronic Annotation more info
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in synaptic vesicle endocytosis	ISO Inferred from Sequence Orthology more info
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-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	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic side of plasma membrane	NAS Non-traceable Author Statement more info	PubMed
is_active_in extrinsic component of presynaptic endocytic zone membrane	ISO Inferred from Sequence Orthology more info
is_active_in glutamatergic synapse	ISO Inferred from Sequence Orthology more info
is_active_in intracellular membrane-bounded organelle	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IEA Inferred from Electronic Annotation more info
part_of membrane coat	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
is_active_in synapse	EXP Inferred from Experiment more info	PubMed
is_active_in synapse	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: AP-2 complex subunit sigma

Names: adapter-related protein complex 2 sigma subunit; adapter-related protein complex 2 subunit sigma; adaptor protein complex AP-2 subunit sigma; adaptor-related protein complex 2 subunit sigma; clathrin assembly protein 2 sigma small chain; clathrin assembly protein 2 small chain; clathrin coat assembly protein AP17; clathrin coat-associated protein AP17; plasma membrane adaptor AP-2 17 kDa protein; sigma-adaptin 3b; sigma2-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.