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

Gene ID: 20595, updated on 24-May-2016
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; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Smn; Gemin1; AI849087
Location:
13 52.99 cM; 13 D1/D2.1
Exon count:
11
Annotation release Status Assembly Chr Location
105 current GRCm38.p3 (GCF_000001635.23) 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
 
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, OTTMUSP00000045374, ENSMUST00000022147, OTTMUST00000084239
    Conserved Domains (2) summary
    pfam06003
    Location:23286
    SMN; Survival motor neuron protein (SMN)
    cd04508
    Location:92138
    TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 105 details...

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

Reference GRCm38.p3 C57BL/6J

Genomic

  1. NC_000079.6 Reference GRCm38.p3 C57BL/6J

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

mRNA and Protein(s)

  1. XM_011244637.1XP_011242939.1  

    See identical proteins and their annotated locations for XP_011242939.1

    Conserved Domains (2) summary
    pfam06003
    Location:23273
    SMN; Survival motor neuron protein (SMN)
    cd04508
    Location:92138
    TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...

Reference GRCm38.p3 129S1/SvImJ

Genomic

  1. NT_187006.1 Reference GRCm38.p3 129S1/SvImJ

    Range
    48113..62604
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011251486.1XP_011249788.1  

    See identical proteins and their annotated locations for XP_011249788.1

    Conserved Domains (2) summary
    pfam06003
    Location:23273
    SMN; Survival motor neuron protein (SMN)
    cd04508
    Location:92138
    TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...

Alternate Mm_Celera

Genomic

  1. AC_000035.1 Alternate Mm_Celera

    Range
    103776771..103791262
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)