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    Smn1 survival motor neuron 1 [ Mus musculus (house mouse) ]

    Gene ID: 20595, updated on 8-Apr-2018
    Official Symbol
    Smn1provided by MGI
    Official Full Name
    survival motor neuron 1provided by MGI
    Primary source
    MGI:MGI:109257
    See related
    Ensembl:ENSMUSG00000021645 Vega:OTTMUSG00000033496
    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
    Smn; Gemin1; AI849087
    Expression
    Ubiquitous expression in CNS E11.5 (RPKM 17.7), CNS E14 (RPKM 14.7) and 28 other tissues See more
    Orthologs
    Location:
    13 D1; 13 52.99 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 13 NC_000079.6 (100123205..100137699)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 13 NC_000079.5 (100894810..100907653)

    Chromosome 13 - NC_000079.6Genomic Context describing neighboring genes Neighboring gene B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB Neighboring gene small EDRK-rich factor 1 Neighboring gene NLR family, apoptosis inhibitory protein 2 Neighboring gene myc induced nuclear antigen pseudogene Neighboring gene NLR family, apoptosis inhibitory protein 1, related sequence 1

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    RNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    fibroblast growth factor binding ISO
    Inferred from Sequence Orthology
    more info
     
    identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    RNA splicing IEA
    Inferred from Electronic Annotation
    more info
     
    axonogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mRNA processing IEA
    Inferred from Electronic Annotation
    more info
     
    microtubule depolymerization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nervous system development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of RNA splicing IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of neuron projection development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    Cajal body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Cajal body ISO
    Inferred from Sequence Orthology
    more info
     
    Gemini of coiled bodies ISO
    Inferred from Sequence Orthology
    more info
     
    SMN complex ISO
    Inferred from Sequence Orthology
    more info
     
    SMN-Sm protein complex ISO
    Inferred from Sequence Orthology
    more info
     
    cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    cytoplasmic ribonucleoprotein granule ISO
    Inferred from Sequence Orthology
    more info
     
    cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    neuron projection ISO
    Inferred from Sequence Orthology
    more info
     
    nucleolus ISO
    Inferred from Sequence Orthology
    more info
     
    nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    perikaryon ISO
    Inferred from Sequence Orthology
    more info
     
    Preferred Names
    survival motor neuron protein
    Names
    survival of motor neuron protein

    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_001252629.1NP_001239558.1  survival motor neuron protein isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate 5' exon, which results in a downstream AUG start codon, compared to variant 1. The resulting isoform (2) is shorter at the N-terminus, compared to isoform 1.
      Source sequence(s)
      EU234021, U63294
      UniProtKB/Swiss-Prot
      P97801
      Conserved Domains (1) summary
      pfam06003
      Location:5392
      SMN; Survival motor neuron protein (SMN)
    2. NM_011420.2NP_035550.1  survival motor neuron protein isoform 1

      See identical proteins and their annotated locations for NP_035550.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AI849087, BB059791, CJ058980, U77714
      Consensus CDS
      CCDS26725.1
      UniProtKB/Swiss-Prot
      P97801
      UniProtKB/TrEMBL
      Q549F9
      Related
      ENSMUSP00000022147.8, OTTMUSP00000045374, ENSMUST00000022147.14, OTTMUST00000084239
      Conserved Domains (2) summary
      smart00333
      Location:87138
      TUDOR; Tudor domain
      pfam06003
      Location:24286
      SMN; Survival motor neuron protein (SMN)

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000079.6 Reference GRCm38.p4 C57BL/6J

      Range
      100123205..100137699
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011244637.1XP_011242939.1  survival motor neuron protein isoform X1

      See identical proteins and their annotated locations for XP_011242939.1

      Conserved Domains (2) summary
      smart00333
      Location:87138
      TUDOR; Tudor domain
      pfam06003
      Location:24273
      SMN; Survival motor neuron protein (SMN)

    Reference GRCm38.p4 129S1/SvImJ

    Genomic

    1. NT_187006.1 Reference GRCm38.p4 129S1/SvImJ

      Range
      48113..62603
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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