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    Ap1s2 adaptor-related protein complex 1, sigma 2 subunit [ Mus musculus (house mouse) ]

    Gene ID: 108012, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Ap1s2provided by MGI
    Official Full Name
    adaptor-related protein complex 1, sigma 2 subunitprovided by MGI
    Primary source
    MGI:MGI:1889383
    See related
    Ensembl:ENSMUSG00000031367 AllianceGenome:MGI:1889383
    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
    EST1; 1500012A13Rik
    Summary
    Predicted to enable clathrin adaptor activity. Involved in synaptic vesicle budding from endosome. Acts upstream of or within several processes, including adipose tissue development; fat cell differentiation; and visual learning. Predicted to be located in Golgi apparatus. Predicted to be active in intracellular membrane-bounded organelle. Is expressed in mesonephros; neocortex; and urinary system. Used to study syndromic X-linked intellectual disability 5. Human ortholog(s) of this gene implicated in syndromic X-linked intellectual disability 5. Orthologous to human AP1S2 (adaptor related protein complex 1 subunit sigma 2). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in genital fat pad adult (RPKM 36.8), CNS E18 (RPKM 7.4) and 9 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Ap1s2 in Genome Data Viewer
    Location:
    X F5; X 75.97 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (162691427..162716662)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (163908454..163933666)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene ring finger protein 138, retrogene 1 Neighboring gene uncharacterized protein C8orf59 homolog Neighboring gene STARR-seq mESC enhancer starr_48234 Neighboring gene STARR-positive B cell enhancer ABC_E11688 Neighboring gene predicted gene, 52456 Neighboring gene STARR-seq mESC enhancer starr_48235 Neighboring gene zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 Neighboring gene predicted gene, 38561 Neighboring gene carbonic anhydrase 5b, mitochondrial

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data 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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    Related articles in PubMed

    1. Hsc70 phosphorylation patterns and calmodulin regulate AP2 Clathrin-Coated-Vesicle life span for cell adhesion protein transport. Sengül GF, et al. Biochim Biophys Acta Mol Cell Res, 2024 Jan. PMID 37926156
    2. Synaptic AP2 CCV life cycle regulation by the Eps15, ITSN1, Sgip1/AP2, synaptojanin1 interactome. Mishra R, et al. Sci Rep, 2021 Apr 13. PMID 33850201, Free PMC Article
    3. Differential regulation of synaptic AP-2/clathrin vesicle uncoating in synaptic plasticity. Candiello E, et al. Sci Rep, 2017 Nov 17. PMID 29150658, Free PMC Article
    4. AP-1/σ1A and AP-1/σ1B adaptor-proteins differentially regulate neuronal early endosome maturation via the Rab5/Vps34-pathway. Candiello E, et al. Sci Rep, 2016 Jul 14. PMID 27411398, Free PMC Article
    5. AP17 and AP19, the mammalian small chains of the clathrin-associated protein complexes show homology to Yap17p, their putative homolog in yeast. Kirchhausen T, et al. J Biol Chem, 1991 Jun 15. PMID 2040623

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (1)  1 citation

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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
    acts_upstream_of_or_within adipose tissue development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within establishment of localization in cell IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within fat cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in intracellular protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in melanosome assembly NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    acts_upstream_of_or_within neuromuscular process controlling balance IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in platelet dense granule organization NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in synaptic vesicle budding from endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in synaptic vesicle budding from endosome IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within synaptic vesicle recycling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within vesicle-mediated transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in vesicle-mediated transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    acts_upstream_of_or_within visual learning IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of AP-1 adaptor complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in clathrin-coated pit IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in early endosome NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in lysosomal membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in presynapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in trans-Golgi network membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    AP-1 complex subunit sigma-2
    Names
    adapter-related protein complex 1 sigma-1B subunit
    adaptor protein complex AP-1 sigma-1B subunit
    adaptor-related protein complex 1 subunit sigma-1B
    clathrin assembly protein complex 1 sigma-1B small chain
    golgi adaptor HA1/AP1 adaptin sigma-1B subunit
    sigma 1B subunit of AP-1 clathrin

    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_001290378.1 → NP_001277307.1  AP-1 complex subunit sigma-2 isoform 2

      See identical proteins and their annotated locations for NP_001277307.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon and contains an alternate 3' terminal exon, resulting in a different 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) is shorter than isoform 1 and has a distinct C-terminus.
      Source sequence(s)
      AK045558, AK167690
      Consensus CDS
      CCDS72466.1
      UniProtKB/TrEMBL
      Q3TIV9, Q8BLQ6
      Related
      ENSMUSP00000033734.8, ENSMUST00000033734.14
      Conserved Domains (1) summary
      cd14831
      Location:2 → 144
      AP1_sigma; AP-1 complex subunit sigma

    2. NM_001290379.1 → NP_001277308.1  AP-1 complex subunit sigma-2 isoform 3

      See identical proteins and their annotated locations for NP_001277308.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an exon and contains two alternate 3' terminal exons, resulting in a different 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) is the same length as isoform 1 but has a distinct C-terminus.
      Source sequence(s)
      AK045558
      Consensus CDS
      CCDS72465.1
      UniProtKB/Swiss-Prot
      B1B0F4, Q543R7, Q9DB50
      UniProtKB/TrEMBL
      Q8BLQ6
      Related
      ENSMUSP00000066185.9, ENSMUST00000069041.15
      Conserved Domains (1) summary
      cd14831
      Location:2 → 144
      AP1_sigma; AP-1 complex subunit sigma

    3. NM_026887.3 → NP_081163.2  AP-1 complex subunit sigma-2 isoform 1

      See identical proteins and their annotated locations for NP_081163.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK045558, AK053941, BX469932
      Consensus CDS
      CCDS30514.1
      UniProtKB/TrEMBL
      Q8BLQ6, Q8BW87
      Related
      ENSMUSP00000107913.3, ENSMUST00000112294.9
      Conserved Domains (1) summary
      cd14831
      Location:2 → 144
      AP1_sigma; AP-1 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_000086.8 Reference GRCm39 C57BL/6J

      Range
      162691427..162716662
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006528678.5 → XP_006528741.1  AP-1 complex subunit sigma-2 isoform X2

      See identical proteins and their annotated locations for XP_006528741.1

      UniProtKB/TrEMBL
      Q8BLQ6
      Conserved Domains (1) summary
      cd14831
      Location:2 → 142
      AP1_sigma; AP-1 complex subunit sigma

    2. XM_011247769.4 → XP_011246071.1  AP-1 complex subunit sigma-2 isoform X1

      See identical proteins and their annotated locations for XP_011246071.1

      UniProtKB/Swiss-Prot
      B1B0F4, Q543R7, Q9DB50
      UniProtKB/TrEMBL
      Q8BLQ6
      Conserved Domains (1) summary
      cd14831
      Location:2 → 144
      AP1_sigma; AP-1 complex subunit sigma

    RNA

    1. XR_387077.5 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9DB50.1 GenPept UniProtKB/Swiss-Prot:Q9DB50

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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