Smn1 (survival of motor neuron 1, telomeric) - Rat Genome Database

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Pathways
Gene: Smn1 (survival of motor neuron 1, telomeric) Rattus norvegicus
Analyze
Symbol: Smn1
Name: survival of motor neuron 1, telomeric
RGD ID: 620755
Description: Enables fibroblast growth factor binding activity. Involved in chemical synaptic transmission. Located in Gemini of coiled bodies. Human ortholog(s) of this gene implicated in Werdnig-Hoffmann disease; adult spinal muscular atrophy; intermediate spinal muscular atrophy; juvenile spinal muscular atrophy; and spinal muscular atrophy. Orthologous to several human genes including SMN1 (survival of motor neuron 1, telomeric); PARTICIPATES IN apoptotic cell death pathway; RNA transport pathway; INTERACTS WITH (+)-schisandrin B; 1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane; 17alpha-ethynylestradiol.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: Smn; survival motor neuron; survival motor neuron 1
RGD Orthologs
Human
Mouse
Dog
Pig
Alliance Genes
More Info more info ...
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2231,490,018 - 31,501,065 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl231,490,015 - 31,501,060 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx238,567,747 - 38,578,799 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0236,662,100 - 36,673,146 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0231,455,201 - 31,466,240 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0230,360,101 - 30,371,147 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl230,360,100 - 30,371,147 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0249,519,268 - 49,530,314 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4231,147,743 - 31,159,938 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1231,068,111 - 31,080,302 (+)NCBI
Celera227,512,249 - 27,523,295 (+)NCBICelera
Cytogenetic Map2q12NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
Cajal body  (IBA,IEA,ISO,ISS)
COPI-coated vesicle  (ISO)
cytoplasm  (ISO)
cytoplasmic ribonucleoprotein granule  (ISO,ISS)
cytosol  (ISO,ISS)
Gemini of coiled bodies  (IBA,IDA,IEA,ISO)
Golgi apparatus  (ISO)
growth cone  (ISO)
neuron projection  (IEA,ISO,ISS)
nuclear body  (ISO)
nucleoplasm  (ISO,ISS)
nucleus  (IBA,ISO,ISS)
perikaryon  (IEA,ISO,ISS)
SMN complex  (IBA,ISO,ISS)
SMN-Sm protein complex  (ISO,ISS)
Z disc  (IEA)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Expression of the survival of motor neuron (SMN) gene in primary neurons and increase in SMN levels by activation of the N-methyl-D-aspartate glutamate receptor. Andreassi C, etal., Neurogenetics 2002 Mar;4(1):29-36.
2. Expression of the SMN gene, the spinal muscular atrophy determining gene, in the mammalian central nervous system. Battaglia G, etal., Hum Mol Genet 1997 Oct;6(11):1961-71.
3. Differential intranuclear localization of fibroblast growth factor-2 isoforms and specific interaction with the survival of motoneuron protein. Claus P, etal., J Biol Chem 2003 Jan 3;278(1):479-85.
4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
5. Survival motor neuron (SMN) protein in rat is expressed as different molecular forms and is developmentally regulated. La Bella V, etal., Eur J Neurosci 1998 Sep;10(9):2913-23.
6. Identification and characterization of a spinal muscular atrophy-determining gene. Lefebvre S, etal., Cell. 1995 Jan 13;80(1):155-65.
7. Characterization of a nuclear 20S complex containing the survival of motor neurons (SMN) protein and a specific subset of spliceosomal Sm proteins. Meister G, etal., Hum Mol Genet 2000 Aug 12;9(13):1977-86.
8. Rat ISS GO annotations from MGI mouse gene data--August 2006 MGD data from the GO Consortium
9. Electronic Transfer of LocusLink and RefSeq Data NCBI rat LocusLink and RefSeq merged data July 26, 2002
10. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
11. Essential role for the SMN complex in the specificity of snRNP assembly. Pellizzoni L, etal., Science 2002 Nov 29;298(5599):1775-9.
12. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
13. GOA pipeline RGD automated data pipeline
14. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
15. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
16. Spinal muscular atrophy: present state. Schmalbruch H and Haase G, Brain Pathol 2001 Apr;11(2):231-47.
17. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
18. The Ewing's sarcoma protein interacts with the Tudor domain of the survival motor neuron protein. Young PJ, etal., Brain Res Mol Brain Res 2003 Nov 6;119(1):37-49.
Additional References at PubMed
PMID:8670859   PMID:9845364   PMID:11181573   PMID:11283611   PMID:14715275   PMID:15465016   PMID:16189514   PMID:17068332   PMID:17261814   PMID:17317728   PMID:17873296   PMID:18093976  
PMID:18984161   PMID:19447967   PMID:19928837   PMID:20176735   PMID:20513430   PMID:21234798   PMID:21300694   PMID:21362474   PMID:21516116   PMID:22037760   PMID:22365833   PMID:23022347  
PMID:24067532   PMID:25055867   PMID:25416956   PMID:25931508   PMID:26700805   PMID:27153795   PMID:29902268   PMID:29997244  


Genomics

Comparative Map Data
Smn1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2231,490,018 - 31,501,065 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl231,490,015 - 31,501,060 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx238,567,747 - 38,578,799 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0236,662,100 - 36,673,146 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0231,455,201 - 31,466,240 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0230,360,101 - 30,371,147 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl230,360,100 - 30,371,147 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0249,519,268 - 49,530,314 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4231,147,743 - 31,159,938 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1231,068,111 - 31,080,302 (+)NCBI
Celera227,512,249 - 27,523,295 (+)NCBICelera
Cytogenetic Map2q12NCBI
SMN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38570,924,941 - 70,966,375 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl570,049,638 - 70,078,522 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p14 Ensembl570,925,030 - 70,953,942 (+)EnsemblGRCh38hg38GRCh38
GRCh37570,220,768 - 70,248,842 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36570,256,524 - 70,284,593 (+)NCBINCBI36Build 36hg18NCBI36
Build 34570,256,523 - 70,284,593NCBI
Celera566,468,090 - 66,482,264 (-)NCBICelera
Cytogenetic Map5q13.2NCBI
HuRef565,881,629 - 65,882,701 (+)NCBIHuRef
CHM1_1569,671,936 - 69,700,004 (+)NCBICHM1_1
T2T-CHM13v2.0571,381,729 - 71,423,141 (+)NCBIT2T-CHM13v2.0
Smn1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3913100,259,713 - 100,274,206 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl13100,261,360 - 100,274,198 (+)EnsemblGRCm39 Ensembl
GRCm3813100,123,205 - 100,137,699 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl13100,124,852 - 100,137,690 (+)EnsemblGRCm38mm10GRCm38
MGSCv3713100,894,810 - 100,907,653 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3613101,225,151 - 101,237,950 (+)NCBIMGSCv36mm8
Celera13103,778,421 - 103,791,262 (+)NCBICelera
Cytogenetic Map13D1NCBI
cM Map1352.99NCBI
SMN
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1254,596,000 - 54,636,837 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl254,596,008 - 54,636,804 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha251,562,487 - 51,603,251 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0255,108,518 - 55,150,113 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl255,108,524 - 55,150,083 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1252,172,181 - 52,212,912 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0252,939,094 - 52,979,825 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0253,829,855 - 53,871,089 (-)NCBIUU_Cfam_GSD_1.0
SMN1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.11647,738,776 - 47,777,381 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21651,686,212 - 51,724,263 (-)NCBISscrofa10.2Sscrofa10.2susScr3

Variants

.
Variants in Smn1
77 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:55
Count of miRNA genes:48
Interacting mature miRNAs:55
Transcripts:ENSRNOT00000024456
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (mRatBN7.2)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
631682Bp115Blood pressure QTL 1154.30.0001arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)2137410502Rat
738010Lnnr3Liver neoplastic nodule remodeling QTL 32.94liver integrity trait (VT:0010547)liver remodeling tumorous lesion number (CMO:0001461)2141244106Rat
61355Bp36Blood pressure QTL 362.9blood pressure trait (VT:0000183)systolic blood pressure (CMO:0000004)25873687102844969Rat
1600379Mcs18Mammary carcinoma susceptibility QTL 182.6mammary gland integrity trait (VT:0010552)mammary tumor number (CMO:0000343)2788777242804738Rat
738012Anxrr3Anxiety related response QTL 33.8exploratory behavior trait (VT:0010471)percentage of entries into a discrete space in an experimental apparatus (CMO:0000961)2902351954023519Rat
10755430Coatc6Coat color QTL 60.02576coat/hair pigmentation trait (VT:0010463)pigmented ventral coat/hair area to total ventral coat/hair area ratio (CMO:0001812)21159110056591100Rat
1578664Bmd9Bone mineral QTL density 95femur mineral mass (VT:0010011)total volumetric bone mineral density (CMO:0001728)21185206249003364Rat
731184Mamtr4Mammary tumor resistance QTL 40.0003mammary gland integrity trait (VT:0010552)mammary tumor number (CMO:0000343)21649174061491740Rat
1357990Ael1Aortic elastin QTL 13.10.00091aorta elastin amount (VT:0003905)aortic elastin21907682564076825Rat
731167Glom4Glomerulus QTL 42.40.0082kidney glomerulus morphology trait (VT:0005325)count of superficial glomeruli not directly contacting the kidney surface (CMO:0001002)22030467265304672Rat
2300168Bmd47Bone mineral density QTL 476.60.0001femur mineral mass (VT:0010011)bone mineral density (CMO:0001226)22066244865662448Rat
10402051Gdil2Gastrointestinal dilation QTL 2enteric ganglion morphology trait (VT:0001045)length of intestine affected by colonic aganglionosis to total length of colon ratio (CMO:0001836)22490385374786777Rat
1302794Stl27Serum triglyceride level QTL 274.40.0001blood triglyceride amount (VT:0002644)plasma triglyceride level (CMO:0000548)225413423143657569Rat
1358894Kidm24Kidney mass QTL 244.03kidney mass (VT:0002707)both kidneys wet weight to body weight ratio (CMO:0000340)225413423157142209Rat
1358899Kidm23Kidney mass QTL 233.88kidney mass (VT:0002707)both kidneys wet weight to body weight ratio (CMO:0000340)225413423157142209Rat
1358901Cm38Cardiac mass QTL 382heart mass (VT:0007028)heart weight to body weight ratio (CMO:0000074)225413423157142209Rat
1358904Cm39Cardiac mass QTL 392.26heart mass (VT:0007028)heart weight to body weight ratio (CMO:0000074)225413423157142209Rat
1358910Kidm27Kidney mass QTL 275.77kidney mass (VT:0002707)both kidneys wet weight to body weight ratio (CMO:0000340)225413423157142209Rat
1358911Kidm28Kidney mass QTL 285.42kidney mass (VT:0002707)both kidneys wet weight to body weight ratio (CMO:0000340)225413423157142209Rat
1358913Cm41Cardiac mass QTL 412.73heart mass (VT:0007028)heart weight to body weight ratio (CMO:0000074)225413423203928301Rat
1358917Cm42Cardiac mass QTL 422.82heart mass (VT:0007028)heart weight to body weight ratio (CMO:0000074)225413423203928301Rat
1358887Bw50Body weight QTL 502.39body mass (VT:0001259)body weight (CMO:0000012)225413652157142078Rat
1358908Bw49Body weight QTL 493.36body mass (VT:0001259)body weight (CMO:0000012)225413652157142078Rat
1354617Bp240Blood pressure QTL 2404arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)22691781781754745Rat
1354617Bp240Blood pressure QTL 2404arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)22691781781754745Rat
1354617Bp240Blood pressure QTL 2404arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)22691781781754745Rat
1354603Bp243Blood pressure QTL 2433.9arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)226917817127469484Rat
2290453Scl55Serum cholesterol level QTL 552.83blood cholesterol amount (VT:0000180)plasma total cholesterol level (CMO:0000585)226917817136917119Rat
1331764Bp205Blood pressure QTL 2053.476arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)22699957143154682Rat
1643006Pain1Pain QTL 13.630.005mechanical nociception trait (VT:0002734)self mutilation severity score (CMO:0002145)22699957148268661Rat
9590095Sffal3Serum free fatty acids level QTL 36.780.001blood free fatty acid amount (VT:0001553)plasma free fatty acids level (CMO:0000546)22715716072157160Rat
1300160Hrtrt3Heart rate QTL 33.62heart pumping trait (VT:2000009)absolute change in heart rate (CMO:0000534)22997159351729300Rat
10755434Coatc7Coat color QTL 70.04794coat/hair pigmentation trait (VT:0010463)pigmented ventral coat/hair area to total ventral coat/hair area ratio (CMO:0001812)23064806575648065Rat

Markers in Region
BE116734  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2231,489,156 - 31,489,315 (+)MAPPERmRatBN7.2
Rnor_6.0230,359,239 - 30,359,397NCBIRnor6.0
Rnor_5.0249,518,406 - 49,518,564UniSTSRnor5.0
RGSC_v3.4231,146,881 - 31,147,039UniSTSRGSC3.4
Celera227,511,387 - 27,511,545UniSTS
RH 3.4 Map264.2UniSTS
Cytogenetic Map2q12UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system appendage
High
Medium 3 34 39 24 19 24 1 4 73 29 41 11 1
Low 9 18 17 17 7 7 1 6 7
Below cutoff

Sequence


RefSeq Acc Id: ENSRNOT00000024456   ⟹   ENSRNOP00000024456
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl231,490,036 - 31,501,060 (+)Ensembl
Rnor_6.0 Ensembl230,360,100 - 30,371,147 (+)Ensembl
RefSeq Acc Id: ENSRNOT00000076746
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.0 Ensembl230,360,126 - 30,363,393 (+)Ensembl
RefSeq Acc Id: ENSRNOT00000118709   ⟹   ENSRNOP00000076972
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl231,490,015 - 31,496,744 (+)Ensembl
RefSeq Acc Id: ENSRNOT00000120029   ⟹   ENSRNOP00000090780
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl231,490,015 - 31,501,055 (+)Ensembl
RefSeq Acc Id: NM_022509   ⟹   NP_071954
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2231,490,018 - 31,501,065 (+)NCBI
Rnor_6.0230,360,101 - 30,371,147 (+)NCBI
Rnor_5.0249,519,268 - 49,530,314 (+)NCBI
RGSC_v3.4231,147,743 - 31,159,938 (+)RGD
Celera227,512,249 - 27,523,295 (+)RGD
Sequence:
RefSeq Acc Id: NP_071954   ⟸   NM_022509
- UniProtKB: O55045 (UniProtKB/Swiss-Prot),   O35876 (UniProtKB/Swiss-Prot),   Q6P684 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSRNOP00000024456   ⟸   ENSRNOT00000024456
RefSeq Acc Id: ENSRNOP00000090780   ⟸   ENSRNOT00000120029
RefSeq Acc Id: ENSRNOP00000076972   ⟸   ENSRNOT00000118709
Protein Domains
Tudor

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O35876-F1-model_v2 AlphaFold O35876 1-289 view protein structure

Transcriptome

eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen

Promoters
RGD ID:13691103
Promoter ID:EPDNEW_R1628
Type:multiple initiation site
Name:Smn1_1
Description:survival of motor neuron 1, telomeric
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.0230,360,124 - 30,360,184EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene RGD:620755 AgrOrtholog
BioCyc Gene G2FUF-54673 BioCyc
Ensembl Genes ENSRNOG00000018067 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000024456.6 UniProtKB/TrEMBL
  ENSRNOT00000118709 ENTREZGENE
  ENSRNOT00000118709.1 UniProtKB/TrEMBL
  ENSRNOT00000120029.1 UniProtKB/TrEMBL
Gene3D-CATH 2.30.30.140 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Periplasmic binding protein-like II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
IMAGE_CLONE IMAGE:5621519 IMAGE-MGC_LOAD
InterPro SMN_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Survival_motor_neuron UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tudor UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tudor_SMN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report rno:64301 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
MGC_CLONE MGC:72446 IMAGE-MGC_LOAD
NCBI Gene 64301 ENTREZGENE
PANTHER SURVIVAL MOTOR NEURON PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SURVIVAL MOTOR NEURON PROTEIN UniProtKB/TrEMBL
  SURVIVAL MOTOR NEURON-LIKE PROTEIN 1 UniProtKB/TrEMBL
  SURVIVAL OF MOTOR NEURON-RELATED-SPLICING FACTOR 30-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SMN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Smn1 PhenoGen
PROSITE TUDOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
RatGTEx ENSRNOG00000018067 RatGTEx
SMART TUDOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Tudor/PWWP/MBT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A8I5Y110_RAT UniProtKB/TrEMBL
  A0A8I6AP44_RAT UniProtKB/TrEMBL
  A6I586_RAT UniProtKB/TrEMBL
  F7ERF5_RAT UniProtKB/TrEMBL
  O35876 ENTREZGENE
  O55045 ENTREZGENE
  Q6P684 ENTREZGENE, UniProtKB/TrEMBL
  SMN_RAT UniProtKB/Swiss-Prot
UniProt Secondary O55045 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-03-07 Smn1  survival of motor neuron 1, telomeric  Smn1  survival motor neuron 1  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2008-02-25 Smn1  survival motor neuron 1  Smn1  survival of motor neuron 1, telomeric  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2006-01-06 Smn1    SMN1  survival of motor neuron 1, telomeric  Symbol updated to conform to rat nomenclature guidelines 1299863 APPROVED
2004-09-10 SMN1  survival of motor neuron 1, telomeric  Smn  survival motor neuron  Symbol and Name updated 1299863 APPROVED
2002-08-07 Smn  survival motor neuron      Symbol and Name status set to provisional 70820 PROVISIONAL

RGD Curation Notes
Note Type Note Reference
gene_cellular_localization 32 kDa isoform is mostly soluble; 35 kDa and 45 kDa isoforms localized to a mitochondrial and microsomal fraction 634120
gene_disease human homolog is deleted in spinal muscular atrophy, which is characterized by degeneration of spinal cord and brainstem motoneurons 634123
gene_physical_interaction binds 23-kDa FGF-2 isoform 634122