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FLASH GENE
Symbol SMNDC1 contributors: mct - updated : 30-04-2014
HGNC name survival motor neuron domain containing 1
HGNC id 16900
Location 10q25.2      Physical location : 112.052.798 - 112.064.707
Synonym name
  • splicing factor 30, survival of motor neuron-related
  • 30 kDa splicing factor SMNrp
  • Synonym symbol(s) SPF30, SMNR
    DNA
    TYPE functioning gene
    STRUCTURE 11.91 kb     6 Exon(s)
    MAPPING cloned Y linked N status provisional
    Physical map
    SORCS1 10q23.3 tudor domain containing 1 LOC387711 10 LOC387711 LOC390001 10 similar to mitogen-activated protein kinase-activated protein kinase LOC390002 10 similar to B-cell receptor-associated protein 37; repressor of estrogen receptor activity XPNPEP1 10q25.3 X-prolyl aminopeptidase (aminopeptidase P) 1, soluble RNU4P5 10q25.2 RNA, U4 small nuclear pseudogene 5 ADD3 10q24.2-q24.3 adducin 3 (gamma) MXI1 10q25 MAX interacting protein 1 SMNDC1 10q23 survival motor neuron domain containing 1 DUSP5 10q25 dual specificity phosphatase 5 CSPG6 10q25 chondroitin sulfate proteoglycan 6 (bamacan) LOC340699 10q25.3 similar to 1110018J23Rik protein PDCD4 10q24 programmed cell death 4 (neoplastic transformation inhibitor) SHOC2 10q25 soc-2 suppressor of clear homolog (C. elegans) ADRA2A 10q25 adrenergic, alpha-2A-, receptor KIAA1560 10q25.3 glycerol 3-phosphate acyltransferase, mitochondrial TECTB 10q25-q26 tectorin beta LOC390003 10 similar to guanylyl cyclase with kinase-like domain, soluble FACL5 10q25.1-q25.2 fatty-acid-Coenzyme A ligase, long-chain 5 ZDHHC6 10q26.11 zinc finger, DHHC domain containing 6 VTI1A 10q26.11 vesicle transport through interaction with t-SNAREs homolog 1A (yeast) TCF7L2 10q25.3 transcription factor 7-like 2 (T-cell specific, HMG-box) FLJ23556 10q26.11 hypothetical protein FLJ23556 LOC390004 10 similar to peptidylprolyl isomerase E (cyclophilin E) HABP2 10q26.11 hyaluronan binding protein 2 NRAP 10q23-q26 nebulin-related anchoring protein CASP7 10q25.1-q25.2 caspase 7, apoptosis-related cysteine protease FLJ23537 10q26.11 hypothetical protein FLJ23537 DCLRE1A 10q25.1 DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae) FLJ25621 10q26.11 FLJ25621 protein FLJ20147 10q26.11 hypothetical protein FLJ20147 ADRB1 10q24.3 adrenergic, beta-1-, receptor FLJ10188 10q26.11 CTCL tumor antigen L14-2 TDRD1 10q24.1-q25.3 tudor domain containing 1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 2043 - 238 - Talbot (1998)
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   lowly
    Digestiveliver    
    Endocrinepancreas   lowly
    Nervousbrain    
     spinal cord    
    Reproductivefemale systemplacenta   
    Respiratorylung    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a bipartite nuclear localization signal
  • Tudor domains bound to symmetric and asymmetric dimethylated arginine (DMA) that is inherent in the RNP complexes (PMID;
  • mono polymer complex
    HOMOLOGY
    interspecies homolog to murine 241004J23Rik
    homolog to rattus LOC287768
    intraspecies paralog to SMN
    Homologene
    FAMILY
  • SMN family
  • CATEGORY RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    basic FUNCTION
  • necessary for spliceosome assembly and nuclear mRNA splicing, by entering the pre-spliceosome in association with 17S U2 snRNP and mediating the assembly of the mature spliceosome
  • essential splicing factor, U2 snRNP-associated protein, facilitating the recruitment of the [U4/U6.U5] tri-snRNP to the pre-spliceosome (Meister 2001)
  • inducing apoptosis in a dose-dependent manner
  • have the potential to mediate the addition of the tri-snRNP to the prespliceosome (Little 2008)
  • SPF30 and its partner-interacting domains are not conserved in yeast, suggesting this interaction network may play an important role in the complex splicing observed in higher eukaryotes (Little 2008)
  • CELLULAR PROCESS cell life, cell death/apoptosis
    nucleotide, RNA splicing
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of the pre-spliceosome (complex A) and the mature spliceosome (complex B)
  • INTERACTION
    DNA
    RNA associating with U4/U5/U6 tri-snRNP and with 17S U2 snRNP
    small molecule
    protein
  • interaction between the N-terminal domain of SPF30 and U2AF1, a prespliceosome protein that has a role in recognizing the 3' splice site and recruiting U2 snRNP (Little 2008)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS