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SMN1 (survival of motor neuron 1, telomeric)

Identity

Alias (NCBI)BCD541
GEMIN1
SMA
SMA1
SMA2
SMA3
SMA4
SMA@
SMN
SMNT
T-BCD541
TDRD16A
HGNC (Hugo) SMN1
HGNC Alias symbBCD541
SMNT
SMA1
SMA2
SMA3
GEMIN1
TDRD16A
HGNC Alias namegemin-1
 tudor domain containing 16A
HGNC Previous nameSMA@
 SMA
HGNC Previous namespinal muscular atrophy (Werdnig-Hoffmann disease, Kugelberg-Welander disease)
LocusID (NCBI) 6606
Atlas_Id 54929
Location 5q13.2  [Link to chromosome band 5q13]
Location_base_pair Starts at 70049523 and ends at 70077591 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)SMN1   11117
LRG (Locus Reference Genomic)LRG_676
Cards
Entrez_Gene (NCBI)SMN1    survival of motor neuron 1, telomeric
AliasesBCD541; GEMIN1; SMA; SMA1; 
SMA2; SMA3; SMA4; SMA@; SMN; SMNT; T-BCD541; TDRD16A
GeneCards (Weizmann)SMN1
Ensembl hg19 (Hinxton)ENSG00000172062 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000172062 [Gene_View]  ENSG00000172062 [Sequence]  chr5:70049523-70077591 [Contig_View]  SMN1 [Vega]
ICGC DataPortalENSG00000172062
TCGA cBioPortalSMN1
AceView (NCBI)SMN1
Genatlas (Paris)SMN1
SOURCE (Princeton)SMN1
Genetics Home Reference (NIH)SMN1
Genomic and cartography
GoldenPath hg38 (UCSC)SMN1  -     chr5:70049523-70077591 +  5q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SMN1  -     5q13.2   [Description]    (hg19-Feb_2009)
GoldenPathSMN1 - 5q13.2 [CytoView hg19]  SMN1 - 5q13.2 [CytoView hg38]
ImmunoBaseENSG00000172062
Genome Data Viewer NCBISMN1 [Mapview hg19]  
OMIM253300   253400   253550   271150   600354   
Gene and transcription
Genbank (Entrez)AK298203 BC062723 JQ657798 JQ657799 JQ657800
RefSeq transcript (Entrez)NM_000344 NM_001297715 NM_022874
Consensus coding sequences : CCDS (NCBI)SMN1
Gene ExpressionSMN1 [ NCBI-GEO ]   SMN1 [ EBI - ARRAY_EXPRESS ]   SMN1 [ SEEK ]   SMN1 [ MEM ]
Gene Expression Viewer (FireBrowse)SMN1 [ Firebrowse - Broad ]
GenevisibleExpression of SMN1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6606
GTEX Portal (Tissue expression)SMN1
Human Protein AtlasENSG00000172062-SMN1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ16637   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ16637  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ16637
PhosPhoSitePlusQ16637
Domaine pattern : Prosite (Expaxy)TUDOR (PS50304)   
Domains : Interpro (EBI)Survival_motor_neuron    Tudor   
Domain families : Pfam (Sanger)SMN (PF06003)   
Domain families : Pfam (NCBI)pfam06003   
Domain families : Smart (EMBL)TUDOR (SM00333)  
Conserved Domain (NCBI)SMN1
PDB (RSDB)1G5V    1MHN    2LEH    4A4E    4A4G    4GLI    4QQ6    5XJL    5XJQ    5XJR    5XJS    5XJT    5XJU   
PDB Europe1G5V    1MHN    2LEH    4A4E    4A4G    4GLI    4QQ6    5XJL    5XJQ    5XJR    5XJS    5XJT    5XJU   
PDB (PDBSum)1G5V    1MHN    2LEH    4A4E    4A4G    4GLI    4QQ6    5XJL    5XJQ    5XJR    5XJS    5XJT    5XJU   
PDB (IMB)1G5V    1MHN    2LEH    4A4E    4A4G    4GLI    4QQ6    5XJL    5XJQ    5XJR    5XJS    5XJT    5XJU   
Structural Biology KnowledgeBase1G5V    1MHN    2LEH    4A4E    4A4G    4GLI    4QQ6    5XJL    5XJQ    5XJR    5XJS    5XJT    5XJU   
SCOP (Structural Classification of Proteins)1G5V    1MHN    2LEH    4A4E    4A4G    4GLI    4QQ6    5XJL    5XJQ    5XJR    5XJS    5XJT    5XJU   
CATH (Classification of proteins structures)1G5V    1MHN    2LEH    4A4E    4A4G    4GLI    4QQ6    5XJL    5XJQ    5XJR    5XJS    5XJT    5XJU   
SuperfamilyQ16637
AlphaFold pdb e-kbQ16637   
Human Protein Atlas [tissue]ENSG00000172062-SMN1 [tissue]
HPRD02646
Protein Interaction databases
DIP (DOE-UCLA)Q16637
IntAct (EBI)Q16637
BioGRIDSMN1
STRING (EMBL)SMN1
ZODIACSMN1
Ontologies - Pathways
QuickGOQ16637
Ontology : AmiGOspliceosomal complex assembly  spliceosomal complex assembly  spliceosomal snRNP assembly  spliceosomal snRNP assembly  spliceosomal snRNP assembly  RNA binding  protein binding  nucleus  nucleus  nucleoplasm  nucleoplasm  cytoplasm  cytosol  cytosol  DNA-templated transcription, termination  nervous system development  Cajal body  Cajal body  nuclear body  Z disc  axon  SMN complex  SMN complex  SMN-Sm protein complex  cytoplasmic ribonucleoprotein granule  identical protein binding  neuron projection  perikaryon  import into nucleus  Gemini of coiled bodies  Gemini of coiled bodies  
Ontology : EGO-EBIspliceosomal complex assembly  spliceosomal complex assembly  spliceosomal snRNP assembly  spliceosomal snRNP assembly  spliceosomal snRNP assembly  RNA binding  protein binding  nucleus  nucleus  nucleoplasm  nucleoplasm  cytoplasm  cytosol  cytosol  DNA-templated transcription, termination  nervous system development  Cajal body  Cajal body  nuclear body  Z disc  axon  SMN complex  SMN complex  SMN-Sm protein complex  cytoplasmic ribonucleoprotein granule  identical protein binding  neuron projection  perikaryon  import into nucleus  Gemini of coiled bodies  Gemini of coiled bodies  
Pathways : KEGGRNA transport   
NDEx NetworkSMN1
Atlas of Cancer Signalling NetworkSMN1
Wikipedia pathwaysSMN1
Orthology - Evolution
OrthoDB6606
GeneTree (enSembl)ENSG00000172062
Phylogenetic Trees/Animal Genes : TreeFamSMN1
Homologs : HomoloGeneSMN1
Homology/Alignments : Family Browser (UCSC)SMN1
Gene fusions - Rearrangements
Fusion : QuiverSMN1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSMN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMN1
dbVarSMN1
ClinVarSMN1
MonarchSMN1
1000_GenomesSMN1 
Exome Variant ServerSMN1
GNOMAD BrowserENSG00000172062
Varsome BrowserSMN1
ACMGSMN1 variants
VarityQ16637
Genomic Variants (DGV)SMN1 [DGVbeta]
DECIPHERSMN1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSMN1 
Mutations
ICGC Data PortalSMN1 
TCGA Data PortalSMN1 
Broad Tumor PortalSMN1
OASIS PortalSMN1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSMN1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSMN1
Mutations and Diseases : HGMDSMN1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaSMN1
DgiDB (Drug Gene Interaction Database)SMN1
DoCM (Curated mutations)SMN1
CIViC (Clinical Interpretations of Variants in Cancer)SMN1
Cancer3DSMN1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM253300    253400    253550    271150    600354   
Orphanet11563    11566    11567    11565   
DisGeNETSMN1
MedgenSMN1
Genetic Testing Registry SMN1
NextProtQ16637 [Medical]
GENETestsSMN1
Target ValidationSMN1
Huge Navigator SMN1 [HugePedia]
ClinGenSMN1
Clinical trials, drugs, therapy
MyCancerGenomeSMN1
Protein Interactions : CTDSMN1
Pharm GKB GenePA35966
PharosQ16637
Clinical trialSMN1
Miscellaneous
canSAR (ICR)SMN1
HarmonizomeSMN1
DataMed IndexSMN1
Probes
Litterature
PubMed377 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXSMN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Oct 4 15:32:15 CEST 2021

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