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    Shtn1 shootin 1 [ Mus musculus (house mouse) ]

    Gene ID: 71653, updated on 2-Nov-2024

    Summary

    Official Symbol
    Shtn1provided by MGI
    Official Full Name
    shootin 1provided by MGI
    Primary source
    MGI:MGI:1918903
    See related
    Ensembl:ENSMUSG00000041362 AllianceGenome:MGI:1918903
    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
    Shootin1; mKIAA1598; 4930506M07Rik
    Summary
    Enables kinesin binding activity. Involved in several processes, including endoplasmic reticulum polarization; positive regulation of neuron migration; and regulation of establishment of cell polarity. Acts upstream of or within regulation of neuron migration. Located in several cellular components, including axonal growth cone; perikaryon; and perinuclear region of cytoplasm. Part of microtubule associated complex. Is expressed in several structures, including gut; lower urinary tract; nervous system; respiratory system; and sensory organ. Orthologous to human SHTN1 (shootin 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in CNS E18 (RPKM 31.8), CNS E14 (RPKM 14.5) and 9 other tissues See more
    Orthologs
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    Genomic context

    See Shtn1 in Genome Data Viewer
    Location:
    19 D2- D3; 19 54.56 cM
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (58961790..59064536, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (58973358..59076124, complement)

    Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene heat shock protein 12A Neighboring gene microRNA 3086 Neighboring gene enolase 4 Neighboring gene STARR-seq mESC enhancer starr_46589 Neighboring gene predicted gene, 57667 Neighboring gene eukaryotic translation elongation factor 1 gamma pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    Variation

    Alleles

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA1598

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables actin filament binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables actin filament binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables cell adhesion molecule binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables kinesin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Cdc42 protein signal transduction ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in Cdc42 protein signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in Ras protein signal transduction ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in Ras protein signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in actin filament bundle retrograde transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in actin filament bundle retrograde transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within axonogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in axonogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in axonogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cytoplasmic actin-based contraction involved in cell motility ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cytoplasmic actin-based contraction involved in cell motility ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in endoplasmic reticulum polarization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within membrane depolarization ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    involved_in netrin-activated signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in netrin-activated signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neuron projection morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in neuron projection morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of axon extension ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of axon extension ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of neuron migration IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of neuron migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of neuron migration ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within regulation of establishment of cell polarity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in regulation of establishment of cell polarity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of neuron migration IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in substrate-dependent cell migration, cell extension ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in substrate-dependent cell migration, cell extension ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in axon IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in axonal growth cone IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in axonal growth cone IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in axonal growth cone ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in cell leading edge IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cell leading edge IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in filopodium ISO
    Inferred from Sequence Orthology
    more info
     
    located_in filopodium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in growth cone IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in growth cone ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    located_in lamellipodium ISO
    Inferred from Sequence Orthology
    more info
     
    located_in lamellipodium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in microtubule ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    part_of microtubule associated complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in microtubule cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in perikaryon IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 

    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_001114312.1NP_001107784.1  shootin-1 isoform 1

      See identical proteins and their annotated locations for NP_001107784.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1, also known as shootin 1b).
      Source sequence(s)
      AC102604, AC124459
      Consensus CDS
      CCDS50481.1
      UniProtKB/Swiss-Prot
      Q5DTW5, Q8C4F6, Q8K2Q9
      Related
      ENSMUSP00000041378.8, ENSMUST00000047511.15
      Conserved Domains (3) summary
      pfam06156
      Location:141189
      DUF972; Protein of unknown function (DUF972)
      pfam10267
      Location:268350
      Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
      pfam10493
      Location:215306
      Rod_C; Rough deal protein C-terminal region
    2. NM_175172.4NP_780381.1  shootin-1 isoform 2

      See identical proteins and their annotated locations for NP_780381.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and has multiple coding region differences, compared to variant 1, one of which results in a frameshift. The resulting isoform (2, also known as shootin 1a) is shorter with a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK082304, DV657531
      Consensus CDS
      CCDS50480.1
      UniProtKB/Swiss-Prot
      Q8K2Q9
      Related
      ENSMUSP00000126227.2, ENSMUST00000163821.3
      Conserved Domains (2) summary
      pfam10267
      Location:268350
      Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
      pfam10493
      Location:215306
      Rod_C; Rough deal protein C-terminal region

    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_000085.7 Reference GRCm39 C57BL/6J

      Range
      58961790..59064536 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_386512.4 RNA Sequence