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

    Gene ID: 11777, updated on 14-Nov-2024

    Summary

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    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 AllianceGenome:MGI:1337062
    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
    human all
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    Genomic context

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    See Ap3s1 in Genome Data Viewer
    Location:
    18 C; 18 24.77 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (46874761..46923893)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (46741694..46790826)

    Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_44516 Neighboring gene cysteine dioxygenase 1, cytosolic Neighboring gene STARR-positive B cell enhancer mm9_chr18:46901062-46901363 Neighboring gene autophagy related 12 Neighboring gene STARR-seq mESC enhancer starr_44521 Neighboring gene laeverin Neighboring gene STARR-seq mESC enhancer starr_44523 Neighboring gene predicted gene, 23610 Neighboring gene ADP-ribosylation factor-like 14 effector protein-like

    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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    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC117528

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    involved_in Golgi to vacuole transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in anterograde axonal transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in anterograde synaptic vesicle transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in clathrin-coated vesicle cargo loading, AP-3-mediated 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 intracellular transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in melanosome assembly NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in platelet dense granule organization NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in synaptic vesicle coating NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in synaptic vesicle recycling NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    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 
    acts_upstream_of_or_within vesicle-mediated transport TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of AP-3 adaptor complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of AP-3 adaptor complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in axon cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasmic vesicle membrane 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 membrane IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in presynapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in trans-Golgi network TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    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)

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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_001303015.1 → NP_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
      Consensus CDS
      CCDS89235.1
      UniProtKB/TrEMBL
      A0A286YDU3
      Related
      ENSMUSP00000153388.2, ENSMUST00000224622.2
      Conserved Domains (1) summary
      cd14834
      Location:1 → 146
      AP3_sigma; AP-3 complex subunit sigma

    2. NM_009681.5 → NP_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
      O88670, Q9DCR2
      UniProtKB/TrEMBL
      Q3U8S0
      Related
      ENSMUSP00000025357.8, ENSMUST00000025357.9
      Conserved Domains (1) summary
      cd14834
      Location:1 → 146
      AP3_sigma; AP-3 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_000084.7 Reference GRCm39 C57BL/6J

      Range
      46874761..46923893
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006525528.5 → XP_006525591.1  AP-3 complex subunit sigma-1 isoform X1

      Conserved Domains (1) summary
      cl38905
      Location:1 → 78
      longin-like; Longin-like domains

    2. XM_036160943.1 → XP_036016836.1  AP-3 complex subunit sigma-1 isoform X2

      Conserved Domains (1) summary
      cd14834
      Location:1 → 146
      AP3_sigma; AP-3 complex subunit sigma

    RNA

    1. XR_004939814.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9DCR2.2 GenPept UniProtKB/Swiss-Prot:Q9DCR2

    Gene LinkOut

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

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