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    Rusc1 RUN and SH3 domain containing 1 [ Mus musculus (house mouse) ]

    Gene ID: 72296, updated on 9-Dec-2024

    Summary

    Official Symbol
    Rusc1provided by MGI
    Official Full Name
    RUN and SH3 domain containing 1provided by MGI
    Primary source
    MGI:MGI:1919546
    See related
    Ensembl:ENSMUSG00000041263 AllianceGenome:MGI:1919546
    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
    NESCA; 2210403N08Rik
    Summary
    Enables actin binding activity. Predicted to be involved in protein polyubiquitination. Located in Golgi apparatus; early endosome; and microtubule cytoskeleton. Is expressed in gut; nervous system; and sensory organ. Orthologous to human RUSC1 (RUN and SH3 domain containing 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in cortex adult (RPKM 26.5), CNS E18 (RPKM 25.7) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Rusc1 in Genome Data Viewer
    Location:
    3 F1; 3 39.01 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (88991282..89000670, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (89083975..89093363, complement)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene ASH1 like histone lysine methyltransferase Neighboring gene STARR-seq mESC enhancer starr_08222 Neighboring gene predicted gene, 26465 Neighboring gene predicted gene, 24403 Neighboring gene STARR-seq mESC enhancer starr_08223 Neighboring gene STARR-positive B cell enhancer ABC_E1623 Neighboring gene STARR-positive B cell enhancer ABC_E2078 Neighboring gene predicted gene, 22935 Neighboring gene farnesyl diphosphate synthetase Neighboring gene predicted gene, 29704

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables actin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in protein polyubiquitination ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein polyubiquitination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasmic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
     
    located_in microtubule cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in postsynaptic density IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    AP-4 complex accessory subunit RUSC1
    Names
    RUN and SH3 domain-containing protein 1
    new molecule containing SH3 at the carboxy-terminus

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001083807.2NP_001077276.1  AP-4 complex accessory subunit RUSC1 isoform 2

      See identical proteins and their annotated locations for NP_001077276.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AC140468
      Consensus CDS
      CCDS38485.1
      UniProtKB/Swiss-Prot
      Q6PHT9, Q8BG26
      Related
      ENSMUSP00000056640.7, ENSMUST00000052539.13
      Conserved Domains (2) summary
      pfam02759
      Location:523633
      RUN; RUN domain
      cl17036
      Location:839890
      SH3; Src Homology 3 domain superfamily
    2. NM_001083808.2NP_001077277.1  AP-4 complex accessory subunit RUSC1 isoform 3

      See identical proteins and their annotated locations for NP_001077277.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation from a downstream ATG and an isoform (3) with a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC140468
      Consensus CDS
      CCDS50956.1
      UniProtKB/TrEMBL
      Q3TDG5
      Related
      ENSMUSP00000130477.2, ENSMUST00000166687.6
      Conserved Domains (2) summary
      cl02689
      Location:61171
      RUN; RUN domain
      cl17036
      Location:377428
      SH3; Src Homology 3 domain superfamily
    3. NM_001429159.1NP_001416088.1  AP-4 complex accessory subunit RUSC1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation from a downstream ATG and an isoform (3) with a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC140468
      UniProtKB/TrEMBL
      Q3TDG5
    4. NM_028188.3NP_082464.2  AP-4 complex accessory subunit RUSC1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC140468
      Consensus CDS
      CCDS38486.1
      UniProtKB/Swiss-Prot
      Q8BG26
      Related
      ENSMUSP00000088447.6, ENSMUST00000090929.12
      Conserved Domains (2) summary
      pfam02759
      Location:660770
      RUN; RUN domain
      cl17036
      Location:9761027
      SH3; Src Homology 3 domain superfamily

    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_000069.7 Reference GRCm39 C57BL/6J

      Range
      88991282..89000670 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006502134.5XP_006502197.1  AP-4 complex accessory subunit RUSC1 isoform X1

      Conserved Domains (2) summary
      cl02689
      Location:61171
      RUN; RUN domain
      cl17036
      Location:377428
      SH3; Src Homology 3 domain superfamily