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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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See Ston1 in Genome Data Viewer
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

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