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    Ap3s1 adaptor-related protein complex 3, sigma 1 subunit [ Mus musculus (house mouse) ]

    Gene ID: 11777, updated on 31-Jan-2019

    Summary

    Official Symbol
    Ap3s1provided by MGI
    Official Full Name
    adaptor-related protein complex 3, sigma 1 subunitprovided by MGI
    Primary source
    MGI:MGI:1337062
    See related
    Ensembl:ENSMUSG00000024480
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Summary
    This gene encodes the sigma subunit of the heterotetrameric adaptor protein complex AP-3 which is involved in the formation of specialized lysosome-related compartments such as melanosomes. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. Pseudogenes of this gene are found on chromosomes 1, 8, 16, 17 and X. [provided by RefSeq, Dec 2014]
    Expression
    Ubiquitous expression in CNS E18 (RPKM 12.6), CNS E14 (RPKM 11.2) and 27 other tissues See more
    Orthologs

    Genomic context

    See Ap3s1 in Genome Data Viewer
    Location:
    18; 18 C
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 18 NC_000084.6 (46741876..46790826)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 18 NC_000084.5 (46901571..46950480)

    Chromosome 18 - NC_000084.6Genomic Context describing neighboring genes Neighboring gene cysteine dioxygenase 1, cytosolic Neighboring gene autophagy related 12 Neighboring gene laeverin Neighboring gene ADP-ribosylation factor-like 14 effector protein-like

    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

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (2) 

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC117528

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    anterograde axonal transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    anterograde synaptic vesicle transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    intracellular protein transport TAS
    Traceable Author Statement
    more info
    PubMed 
    protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    vesicle-mediated transport TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    AP-3 adaptor complex ISO
    Inferred from Sequence Orthology
    more info
     
    Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    axon IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    axon cytoplasm IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
     
    membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    membrane coat IEA
    Inferred from Electronic Annotation
    more info
     
    synapse IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    trans-Golgi network TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    AP-3 complex subunit sigma-1
    Names
    AP-3 complex sigma-3A subunit
    adapter-related protein complex 3 sigma-1 subunit
    adaptor-related protein complex AP-3, sigma 1 subunit
    sigma-3A-adaptin
    sigma-adaptin 3a

    NCBI Reference Sequences (RefSeq)

    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_001303015.1NP_001289944.1  AP-3 complex subunit sigma-1 isoform 2

      See identical proteins and their annotated locations for NP_001289944.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an additional exon, which results in a frameshift, compared to variant 1. The resulting protein (isoform 2) has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC123927, AK137489, BC145234
      UniProtKB/TrEMBL
      A0A286YDU3, Q3U8S0
      Related
      ENSMUSP00000153388.1, ENSMUST00000224622.1
      Conserved Domains (1) summary
      COG5030
      Location:1148
      APS2; Clathrin adaptor complex, small subunit [Intracellular trafficking and secretion]
    2. NM_009681.5NP_033811.1  AP-3 complex subunit sigma-1 isoform 1

      See identical proteins and their annotated locations for NP_033811.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC123927, AK137489, AK152100
      Consensus CDS
      CCDS29236.1
      UniProtKB/Swiss-Prot
      Q9DCR2
      UniProtKB/TrEMBL
      Q3U8S0
      Related
      ENSMUSP00000025357.7, ENSMUST00000025357.8
      Conserved Domains (1) summary
      COG5030
      Location:1152
      APS2; Clathrin adaptor complex, small subunit [Intracellular trafficking and secretion]

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000084.6 Reference GRCm38.p4 C57BL/6J

      Range
      46741876..46790826
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006525526.2XP_006525589.1  AP-3 complex subunit sigma-1 isoform X1

      See identical proteins and their annotated locations for XP_006525589.1

      UniProtKB/TrEMBL
      A0A286YDU3
      Conserved Domains (1) summary
      COG5030
      Location:1148
      APS2; Clathrin adaptor complex, small subunit [Intracellular trafficking and secretion]
    2. XM_006525528.3XP_006525591.1  AP-3 complex subunit sigma-1 isoform X2

      Conserved Domains (1) summary
      cl02092
      Location:180
      Clat_adaptor_s; Clathrin adaptor complex small chain
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