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    Ston1 stonin 1 [ Mus musculus (house mouse) ]

    Gene ID: 77057, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Ston1provided by MGI
    Official Full Name
    stonin 1provided by MGI
    Primary source
    MGI:MGI:1924307
    See related
    Ensembl:ENSMUSG00000033855 AllianceGenome:MGI:1924307
    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
    Salf; Sblf; 4921524J06Rik
    Summary
    Enables cargo adaptor activity. Acts upstream of or within several processes, including cell-substrate junction organization; platelet-derived growth factor receptor signaling pathway; and ruffle assembly. Located in cell leading edge; cell projection; and clathrin-coated pit. Is expressed in genitourinary system. Orthologous to several human genes including STON1-GTF2A1L (STON1-GTF2A1L readthrough). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in lung adult (RPKM 7.9), bladder adult (RPKM 7.6) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    17 E4; 17 58.1 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (88905043..88955293)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (88597615..88647865)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene forkhead box N2 Neighboring gene STARR-seq mESC enhancer starr_43555 Neighboring gene STARR-seq mESC enhancer starr_43556 Neighboring gene predicted gene, 57646 Neighboring gene STARR-seq mESC enhancer starr_43557 Neighboring gene STARR-seq mESC enhancer starr_43559 Neighboring gene STARR-positive B cell enhancer mm9_chr17:88929251-88929552 Neighboring gene protein phosphatase 1, regulatory subunit 21 Neighboring gene STARR-positive B cell enhancer mm9_chr17:88980789-88981089 Neighboring gene predicted gene, 31704 Neighboring gene STARR-seq mESC enhancer starr_43565 Neighboring gene predicted gene, 31903 Neighboring gene predicted gene, 38460 Neighboring gene general transcription factor IIA, 1-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
    • 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. Functional dissection of the interactions of stonin 2 with the adaptor complex AP-2 and synaptotagmin. Walther K, et al. Proc Natl Acad Sci U S A, 2004 Jan 27. PMID 14726597, Free PMC Article
    2. Human stoned B interacts with AP-2 and synaptotagmin and facilitates clathrin-coated vesicle uncoating. Walther K, et al. EMBO Rep, 2001 Jul. PMID 11454741, Free PMC Article
    3. Stonin1 mediates endocytosis of the proteoglycan NG2 and regulates focal adhesion dynamics and cell motility. Feutlinske F, et al. Nat Commun, 2015 Oct 5. PMID 26437238, Free PMC Article
    4. A systems approach reveals that the myogenesis genome network is regulated by the transcriptional repressor RP58. Yokoyama S, et al. Dev Cell, 2009 Dec. PMID 20059953, Free PMC Article
    5. EUCOMM--the European conditional mouse mutagenesis program. Friedel RH, et al. Brief Funct Genomic Proteomic, 2007 Sep. PMID 17967808

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Data establish Stonin1 as a specific adaptor for the endocytosis of NG2 and as an important factor for focal adhesion dynamics and cell migration.
      Title: Stonin1 mediates endocytosis of the proteoglycan NG2 and regulates focal adhesion dynamics and cell motility.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables cargo adaptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables clathrin adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in clathrin-dependent endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within endocytosis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within focal adhesion assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within focal adhesion disassembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within platelet-derived growth factor receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of endocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    acts_upstream_of_or_within ruffle assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within substrate-dependent cell migration IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within substrate-dependent cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in synaptic vesicle endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within vesicle-mediated transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of AP-2 adaptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cell leading edge IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cell projection IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in clathrin-coated pit IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in synaptic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    stonin-1
    Names
    stoned B-like factor
    stoned B/TFIIA-alpha/beta-like factor

    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_029858.2 → NP_084134.2  stonin-1

      See identical proteins and their annotated locations for NP_084134.2

      Status: VALIDATED

      Source sequence(s)
      AK014958, BY334339, CD349605, CF729405
      Consensus CDS
      CCDS50207.1
      UniProtKB/Swiss-Prot
      Q8CDJ8, Q8CDL8, Q9D5T3
      UniProtKB/TrEMBL
      Q3UW71
      Related
      ENSMUSP00000131703.2, ENSMUST00000163588.8
      Conserved Domains (1) summary
      cl10970
      Location:397 → 711
      AP_MHD_Cterm; C-terminal domain of adaptor protein (AP) complexes medium mu subunits and its homologs (MHD)

    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_000083.7 Reference GRCm39 C57BL/6J

      Range
      88905043..88955293
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006525111.3 → XP_006525174.1  stonin-1 isoform X1

      See identical proteins and their annotated locations for XP_006525174.1

      UniProtKB/Swiss-Prot
      Q8CDJ8, Q8CDL8, Q9D5T3
      UniProtKB/TrEMBL
      Q3UW71
      Conserved Domains (1) summary
      cl10970
      Location:397 → 711
      AP_MHD_Cterm; C-terminal domain of adaptor protein (AP) complexes medium mu subunits and its homologs (MHD)

    2. XM_006525113.3 → XP_006525176.1  stonin-1 isoform X2

      Conserved Domains (1) summary
      cl10970
      Location:397 → 591
      AP_MHD_Cterm; C-terminal domain of adaptor protein (AP) complexes medium mu subunits and its homologs (MHD)

    3. XM_006525112.5 → XP_006525175.1  stonin-1 isoform X1

      See identical proteins and their annotated locations for XP_006525175.1

      UniProtKB/Swiss-Prot
      Q8CDJ8, Q8CDL8, Q9D5T3
      UniProtKB/TrEMBL
      Q3UW71
      Conserved Domains (1) summary
      cl10970
      Location:397 → 711
      AP_MHD_Cterm; C-terminal domain of adaptor protein (AP) complexes medium mu subunits and its homologs (MHD)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8CDJ8.2 GenPept UniProtKB/Swiss-Prot:Q8CDJ8

    Gene LinkOut

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

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