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

Gene ID: 232910, updated on 27-Nov-2024

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 postsynaptic neurotransmitter receptor internalization and synaptic vesicle endocytosis. Part of AP-2 adaptor complex. Is active in synapse. 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, Nov 2024]
Expression
Ubiquitous expression in duodenum adult (RPKM 68.3), large intestine adult (RPKM 65.1) and 28 other tissues See more
Orthologs
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Genomic context

See Ap2s1 in Genome Data Viewer
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_000073.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E3700 Neighboring gene 40S RIBOSOMAL PROTEIN S3A (V-FOS TRANSFORMATION EFFECTOR PROTEIN) Neighboring gene CEA cell adhesion molecule 9 Neighboring gene STARR-positive B cell enhancer ABC_E4899 Neighboring gene STARR-positive B cell enhancer ABC_E6517 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:17351790-17352086 Neighboring gene STARR-positive B cell enhancer ABC_E694 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:17368547-17368700 Neighboring gene solute carrier family 1 (neutral amino acid transporter), member 5 Neighboring gene fukutin related protein Neighboring gene striatin, calmodulin binding protein 4

Genomic regions, transcripts, and products

Expression

  • 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

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC62945

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 
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 
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-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 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 postsynapse IEA
Inferred from Electronic Annotation
more info
 
located_in presynapse 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

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.

mRNA and Protein(s)

  1. NM_198613.2NP_941015.2  AP-2 complex subunit sigma

    See identical proteins and their annotated locations for NP_941015.2

    Status: VALIDATED

    Source sequence(s)
    AK146584
    Consensus CDS
    CCDS52042.1
    UniProtKB/Swiss-Prot
    P62743, P70626, P97626, Q00380
    UniProtKB/TrEMBL
    Q3UJ76, Q7TT10
    Related
    ENSMUSP00000083281.7, ENSMUST00000086112.8
    Conserved Domains (1) summary
    cd14833
    Location:1141
    AP2_sigma; AP-2 complex subunit sigma

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

  1. NC_000073.7 Reference GRCm39 C57BL/6J

    Range
    16472369..16483215
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)