Description: Homo sapiens survival motor neuron domain containing 1 (SMNDC1), mRNA. RefSeq Summary (NM_005871): This gene is a paralog of SMN1 gene, which encodes the survival motor neuron protein, mutations in which are cause of autosomal recessive proximal spinal muscular atrophy. The protein encoded by this gene is a nuclear protein that has been identified as a constituent of the spliceosome complex. This gene is differentially expressed, with abundant levels in skeletal muscle, and may share similar cellular function as the SMN1 gene. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr10:112,052,798-112,064,707 Size: 11,910 Total Exon Count: 6 Strand: - Coding Region Position: hg19 chr10:112,053,908-112,063,345 Size: 9,438 Coding Exon Count: 5
ID:SPF30_HUMAN DESCRIPTION: RecName: Full=Survival of motor neuron-related-splicing factor 30; AltName: Full=30 kDa splicing factor SMNrp; AltName: Full=SMN-related protein; AltName: Full=Survival motor neuron domain-containing protein 1; FUNCTION: Necessary for spliceosome assembly. Overexpression causes apoptosis. SUBUNIT: Associates with spliceosomes. Associates with U4/U5/U6 tri-snRNP and with U2 snRNP. INTERACTION: Q14974:KPNB1; NbExp=2; IntAct=EBI-1052641, EBI-286758; SUBCELLULAR LOCATION: Nucleus speckle. Nucleus, Cajal body. Note=Detected in nuclear speckles containing snRNP and in Cajal (coiled) bodies. TISSUE SPECIFICITY: Detected at intermediate levels in skeletal muscle, and at low levels in heart and pancreas. DOMAIN: The Tudor domain mediates association with dimethylarginines, which are common in snRNP proteins. SIMILARITY: Belongs to the SMN family. SIMILARITY: Contains 1 Tudor domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O75940
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
BC039110 - Homo sapiens survival motor neuron domain containing 1, mRNA (cDNA clone IMAGE:4831086), with apparent retained intron. BC011234 - Homo sapiens survival motor neuron domain containing 1, mRNA (cDNA clone MGC:17138 IMAGE:4153336), complete cds. JD077949 - Sequence 58973 from Patent EP1572962. JD248952 - Sequence 229976 from Patent EP1572962. JD119931 - Sequence 100955 from Patent EP1572962. JD295241 - Sequence 276265 from Patent EP1572962. JD168662 - Sequence 149686 from Patent EP1572962. JD326864 - Sequence 307888 from Patent EP1572962. AF107463 - Homo sapiens splicing factor mRNA, complete cds. JD094228 - Sequence 75252 from Patent EP1572962. JD467990 - Sequence 449014 from Patent EP1572962. JD289452 - Sequence 270476 from Patent EP1572962. LF206916 - JP 2014500723-A/14419: Polycomb-Associated Non-Coding RNAs. JD327932 - Sequence 308956 from Patent EP1572962. AF083385 - Homo sapiens 30kDa splicing factor mRNA, complete cds. AK314013 - Homo sapiens cDNA, FLJ94669, highly similar to Homo sapiens survival motor neuron domain containing 1 (SMNDC1), mRNA. KJ892990 - Synthetic construct Homo sapiens clone ccsbBroadEn_02384 SMNDC1 gene, encodes complete protein. LF359274 - JP 2014500723-A/166777: Polycomb-Associated Non-Coding RNAs. LF359275 - JP 2014500723-A/166778: Polycomb-Associated Non-Coding RNAs. JD272651 - Sequence 253675 from Patent EP1572962. JD197126 - Sequence 178150 from Patent EP1572962. JD297925 - Sequence 278949 from Patent EP1572962. JD398144 - Sequence 379168 from Patent EP1572962. MA442493 - JP 2018138019-A/14419: Polycomb-Associated Non-Coding RNAs. MA594851 - JP 2018138019-A/166777: Polycomb-Associated Non-Coding RNAs. MA594852 - JP 2018138019-A/166778: Polycomb-Associated Non-Coding RNAs.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa03040 - Spliceosome
Reactome (by CSHL, EBI, and GO)
Protein O75940 (Reactome details) participates in the following event(s):
R-HSA-72124 Formation of the Spliceosomal A Complex R-HSA-72143 Lariat Formation and 5'-Splice Site Cleavage R-HSA-72139 Formation of the active Spliceosomal C (B*) complex R-HSA-72127 Formation of the Spliceosomal B Complex R-HSA-72130 Formation of an intermediate Spliceosomal C (Bact) complex R-HSA-156661 Formation of Exon Junction Complex R-HSA-72163 mRNA Splicing - Major Pathway R-HSA-72172 mRNA Splicing R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA R-HSA-8953854 Metabolism of RNA