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Aliases for SMN1 Gene

Aliases for SMN1 Gene

  • Survival Of Motor Neuron 1, Telomeric 2 3 5
  • Gemin-1 2 3 4
  • Tudor Domain Containing 16A 2 3
  • Component Of Gems 1 3 4
  • SMNT 3 4
  • SMN 3 4
  • Spinal Muscular Atrophy (Werdnig-Hoffmann Disease, Kugelberg-Welander Disease) 2
  • Survival Motor Neuron 1 Protein 3
  • Survival Motor Neuron Protein 3
  • SMN1 SMN2 4
  • T-BCD541 3
  • TDRD16A 3
  • BCD541 3
  • GEMIN1 3
  • SMA3 3
  • SMA1 3
  • SMA2 3
  • SMA4 3
  • SMA@ 3
  • SMNC 4
  • SMA 3

External Ids for SMN1 Gene

Previous HGNC Symbols for SMN1 Gene

  • SMA@
  • SMA

Previous GeneCards Identifiers for SMN1 Gene

  • GC05M069123
  • GC05M070536
  • GC05M069032
  • GC05M069077
  • GC05P069381
  • GC05P070257
  • GC05P065882
  • GC05P070220

Summaries for SMN1 Gene

Entrez Gene Summary for SMN1 Gene

  • This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. However, mutations in this gene, the telomeric copy, are associated with spinal muscular atrophy; mutations in the centromeric copy do not lead to disease. The centromeric copy may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Multiple transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2014]

GeneCards Summary for SMN1 Gene

SMN1 (Survival Of Motor Neuron 1, Telomeric) is a Protein Coding gene. Diseases associated with SMN1 include Spinal Muscular Atrophy-3 and Spinal Muscular Atrophy-1. Among its related pathways are Transport of the SLBP independent Mature mRNA and Translational Control. GO annotations related to this gene include identical protein binding and RNA binding. An important paralog of this gene is SMN2.

UniProtKB/Swiss-Prot for SMN1 Gene

  • The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus. Ensures the correct splicing of U12 intron-containing genes that may be important for normal motor and proprioceptive neurons development. Also required for resolving RNA-DNA hybrids created by RNA polymerase II, that form R-loop in transcription terminal regions, an important step in proper transcription termination. May also play a role in the metabolism of small nucleolar ribonucleoprotein (snoRNPs).

Gene Wiki entry for SMN1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMN1 Gene

Genomics for SMN1 Gene

Regulatory Elements for SMN1 Gene

Enhancers for SMN1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05F070931 0.2 Ensembl 0.4 +7.2 7207 0.9 SMN1 NAIP
GH05F070952 0.6 Ensembl 0.3 +27.8 27760 1.0 GTF2H2 ENSG00000179978 SMN1 NAIP
GH05F071002 0.2 Ensembl 0.2 +78.4 78360 1.0 NAIP SMN1
GH05F071007 0.4 Ensembl 0.2 +82.2 82160 0.2 NAIP SMN1
GH05F071023 0.4 Ensembl 0.1 +98.8 98760 0.2 NAIP SMN1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SMN1 on UCSC Golden Path with GeneCards custom track

Promoters for SMN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001870145 360 2200 ZNF407 MLLT1

Genomic Location for SMN1 Gene

Chromosome:
5
Start:
70,924,941 bp from pter
End:
70,953,942 bp from pter
Size:
29,002 bases
Orientation:
Plus strand

Genomic View for SMN1 Gene

Genes around SMN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMN1 Gene

Proteins for SMN1 Gene

  • Protein details for SMN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16637-SMN_HUMAN
    Recommended name:
    Survival motor neuron protein
    Protein Accession:
    Q16637
    Secondary Accessions:
    • A8K0V4
    • Q13119
    • Q549U5
    • Q96J51

    Protein attributes for SMN1 Gene

    Size:
    294 amino acids
    Molecular mass:
    31849 Da
    Quaternary structure:
    • Homodimer (PubMed:14715275). Part of the core SMN complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP (PubMed:9323129). Part of the SMN-Sm complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8, STRAP/UNRIP and the Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG (PubMed:12065586, PubMed:18984161). Component of an import snRNP complex composed of KPNB1, RNUT1, SMN1 and ZNF259 (PubMed:12095920). Interacts with DDX20, FBL, NOLA1, RNUT1, SYNCRIP and with several spliceosomal snRNP core Sm proteins, including SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE and ILF3 (PubMed:11574476, PubMed:12095920). Interacts with OSTF1, LSM10, LSM11 and RPP20/POP7 (PubMed:11551898, PubMed:12975319, PubMed:16087681, PubMed:14715275). Interacts (via C-terminal region) with ZPR1 (via C-terminal region) (PubMed:11283611). Interacts (via Tudor domain) with COIL (PubMed:11641277). Interacts with SETX; recruits SETX to POLR2A (PubMed:21700224, PubMed:26700805). Interacts with POLR2A (via the C-terminal domain (CTD)) (PubMed:26700805). Interacts with PRMT5 (PubMed:26700805). Interacts with XRN2 (PubMed:26700805). Interacts (via C-terminus) with FMR1 (via C-terminus); the interaction is direct and occurs in a RNA-independent manner (PubMed:18093976).
    • Homodimer (PubMed:14715275). Part of the core SMN complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP (PubMed:9323129). Part of the SMN-Sm complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8, STRAP/UNRIP and the Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG (PubMed:12065586, PubMed:18984161). Component of an import snRNP complex composed of KPNB1, RNUT1, SMN1 and ZNF259 (PubMed:12095920). Interacts with DDX20, FBL, NOLA1, RNUT1, SYNCRIP and with several spliceosomal snRNP core Sm proteins, including SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE and ILF3 (PubMed:11574476, PubMed:12095920). Interacts with OSTF1, LSM10, LSM11 and RPP20/POP7 (PubMed:11551898, PubMed:12975319, PubMed:16087681, PubMed:14715275). Interacts (via C-terminal region) with ZPR1 (via C-terminal region) (PubMed:11283611). Interacts (via Tudor domain) with COIL (PubMed:11641277). Interacts with SETX; recruits SETX to POLR2A (PubMed:21700224, PubMed:26700805). Interacts with POLR2A (via the C-terminal domain (CTD)) (PubMed:26700805). Interacts with PRMT5 (PubMed:26700805). Interacts with XRN2 (PubMed:26700805). Interacts (via C-terminus) with FMR1 (via C-terminus); the interaction is direct and occurs in a RNA-independent manner (PubMed:18093976).
    Miscellaneous:
    • The SMN gene is present in two highly homologous and functional copies (TelSMN/SMN1 and CenSMN/SMN2). The telomeric copy of SMN gene (TelSMN/SMN1) seems to be the SMA-determining gene while the centromeric copy seems unaffected.

    Three dimensional structures from OCA and Proteopedia for SMN1 Gene

    Alternative splice isoforms for SMN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SMN1 Gene

Post-translational modifications for SMN1 Gene

  • Ubiquitination at Lys 41, Lys 51, and Lys 186
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SMN1 Gene

Domains & Families for SMN1 Gene

Gene Families for SMN1 Gene

Protein Domains for SMN1 Gene

Graphical View of Domain Structure for InterPro Entry

Q16637

UniProtKB/Swiss-Prot:

SMN_HUMAN :
  • The Tudor domain mediates association with dimethylarginines, which are common in snRNP proteins.
  • Belongs to the SMN family.
Domain:
  • The Tudor domain mediates association with dimethylarginines, which are common in snRNP proteins.
  • Contains 1 Tudor domain.
Family:
  • Belongs to the SMN family.
genes like me logo Genes that share domains with SMN1: view

No data available for Suggested Antigen Peptide Sequences for SMN1 Gene

Function for SMN1 Gene

Molecular function for SMN1 Gene

GENATLAS Biochemistry:
survival motor neuron,telomeric copy;predominant by expressed in fetal tissues generally located both in the cytoplasm and the nucleus,where it is highly associated with gem-like (gemini of coiled bodies) structures,associating with a protein SIP1 to form a complex with several spliceosomal snRNP proteins playing an essential role in spliceosomal snRNP biogenesis and pre mRNA splicing regulatory activity in the nucleus and as regulator of transcription,with aberrant splicing of exon 7 determining the disease,interacting with BCL2
UniProtKB/Swiss-Prot Function:
The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus. Ensures the correct splicing of U12 intron-containing genes that may be important for normal motor and proprioceptive neurons development. Also required for resolving RNA-DNA hybrids created by RNA polymerase II, that form R-loop in transcription terminal regions, an important step in proper transcription termination. May also play a role in the metabolism of small nucleolar ribonucleoprotein (snoRNPs).

Gene Ontology (GO) - Molecular Function for SMN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0005515 protein binding IPI 11283611
GO:0042802 identical protein binding IPI 8670859
genes like me logo Genes that share ontologies with SMN1: view

Phenotypes for SMN1 Gene

genes like me logo Genes that share phenotypes with SMN1: view

Human Phenotype Ontology for SMN1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SMN1 Gene

Localization for SMN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMN1 Gene

Nucleus, gem. Nucleus, Cajal body. Cytoplasm. Cytoplasmic granule. Perikaryon. Cell projection. Cytoplasm, myofibril, sarcomere, Z line. Note=Colocalizes with actin and at the Z-line of skeletal muscle (By similarity). Under stress conditions colocalizes with RPP20/POP7 in punctuated cytoplasmic granules (PubMed:14715275). Colocalized and redistributed with ZPR1 from the cytoplasm to nuclear gems (Gemini of coiled bodies) and Cajal bodies (PubMed:11283611). Colocalizes with FMR1 in cytoplasmic granules in the soma and neurite cell processes (PubMed:18093976). {ECO:0000250 UniProtKB:P97801, ECO:0000269 PubMed:11283611, ECO:0000269 PubMed:14715275, ECO:0000269 PubMed:18093976}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SMN1 Gene COMPARTMENTS Subcellular localization image for SMN1 gene
Compartment Confidence
cytosol 5
nucleus 5
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for SMN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 11283611
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA,IDA 9845364
GO:0005829 cytosol TAS --
GO:0015030 Cajal body IEA,IDA 11283611
genes like me logo Genes that share ontologies with SMN1: view

Pathways & Interactions for SMN1 Gene

genes like me logo Genes that share pathways with SMN1: view

Pathways by source for SMN1 Gene

1 Cell Signaling Technology pathway for SMN1 Gene
3 Reactome pathways for SMN1 Gene
1 KEGG pathway for SMN1 Gene

Gene Ontology (GO) - Biological Process for SMN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000245 spliceosomal complex assembly NAS 9323129
GO:0000387 spliceosomal snRNP assembly TAS --
GO:0006353 DNA-templated transcription, termination IMP 26700805
GO:0006397 mRNA processing IEA --
GO:0007399 nervous system development IEA --
genes like me logo Genes that share ontologies with SMN1: view

No data available for SIGNOR curated interactions for SMN1 Gene

Drugs & Compounds for SMN1 Gene

(6) Drugs for SMN1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(5) Additional Compounds for SMN1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SMN1: view

Transcripts for SMN1 Gene

Unigene Clusters for SMN1 Gene

Survival of motor neuron 1, telomeric:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SMN1 Gene

No ASD Table

Relevant External Links for SMN1 Gene

GeneLoc Exon Structure for
SMN1
ECgene alternative splicing isoforms for
SMN1

Expression for SMN1 Gene

mRNA expression in normal human tissues for SMN1 Gene

Protein differential expression in normal tissues from HIPED for SMN1 Gene

This gene is overexpressed in Bone (48.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SMN1 Gene



Protein tissue co-expression partners for SMN1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SMN1 Gene:

SMN1

SOURCE GeneReport for Unigene cluster for SMN1 Gene:

Hs.535788

mRNA Expression by UniProt/SwissProt for SMN1 Gene:

Q16637-SMN_HUMAN
Tissue specificity: Expressed in a wide variety of tissues. Expressed at high levels in brain, kidney and liver, moderate levels in skeletal and cardiac muscle, and low levels in fibroblasts and lymphocytes. Also seen at high levels in spinal cord. Present in osteoclasts and mononuclear cells (at protein level).
genes like me logo Genes that share expression patterns with SMN1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for SMN1 Gene

Orthologs for SMN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SMN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SMN1 34 35
  • 99.49 (n)
dog
(Canis familiaris)
Mammalia SMN 34
  • 90.99 (n)
SMN1 35
  • 88 (a)
OneToMany
cow
(Bos Taurus)
Mammalia SMN1 34 35
  • 88.21 (n)
mouse
(Mus musculus)
Mammalia Smn1 34 35
  • 83.81 (n)
rat
(Rattus norvegicus)
Mammalia Smn1 34
  • 82.45 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 67 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 63 (a)
OneToMany
chicken
(Gallus gallus)
Aves SMN 34 35
  • 65.35 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 62 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia smn2 34
  • 63.51 (n)
Str.7147 34
African clawed frog
(Xenopus laevis)
Amphibia LOC398438 34
zebrafish
(Danio rerio)
Actinopterygii smn1 34 35
  • 58.65 (n)
smn 34
worm
(Caenorhabditis elegans)
Secernentea smn-1 35
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3529 35
  • 26 (a)
OneToMany
Species where no ortholog for SMN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SMN1 Gene

ENSEMBL:
Gene Tree for SMN1 (if available)
TreeFam:
Gene Tree for SMN1 (if available)

Paralogs for SMN1 Gene

Paralogs for SMN1 Gene

(2) SIMAP similar genes for SMN1 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with SMN1: view

Variants for SMN1 Gene

Sequence variations from dbSNP and Humsavar for SMN1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs104893922 Spinal muscular atrophy 1 (SMA1) [MIM:253300]
rs104893927 Spinal muscular atrophy 3 (SMA3) [MIM:253400]
rs104893930 Spinal muscular atrophy 2 (SMA2) [MIM:253550]
rs104893931 Spinal muscular atrophy 3 (SMA3) [MIM:253400]
rs104893932 Spinal muscular atrophy 3 (SMA3) [MIM:253400]

Structural Variations from Database of Genomic Variants (DGV) for SMN1 Gene

Variant ID Type Subtype PubMed ID
dgv19n31 CNV gain 19718026
dgv5695n100 CNV gain 25217958
dgv5696n100 CNV loss 25217958
dgv5697n100 CNV gain+loss 25217958
dgv7e224 CNV loss 25118596
dgv9838n54 CNV loss 21841781
dgv9842n54 CNV loss 21841781
dgv9843n54 CNV loss 21841781
dgv9844n54 CNV loss 21841781
dgv9845n54 CNV loss 21841781
dgv9846n54 CNV loss 21841781
dgv9847n54 CNV loss 21841781
dgv9848n54 CNV loss 21841781
dgv9849n54 CNV loss 21841781
dgv9850n54 CNV loss 21841781
dgv9856n54 CNV loss 21841781
dgv9857n54 CNV loss 21841781
dgv9858n54 CNV loss 21841781
dgv9859n54 CNV gain 21841781
esv22113 CNV gain+loss 19812545
esv2590135 CNV gain 19546169
esv2759348 CNV gain+loss 17122850
esv32787 CNV gain+loss 17666407
esv32846 CNV loss 17666407
esv3570183 CNV loss 25503493
esv3890639 CNV gain 25118596
esv3890640 CNV loss 25118596
esv3890645 CNV loss 25118596
esv3890647 CNV loss 25118596
esv3890650 CNV loss 25118596
esv3890652 CNV loss 25118596
esv3890653 CNV loss 25118596
esv3894208 CNV loss 25118596
esv3894209 CNV loss 25118596
nsv10707 CNV gain+loss 18304495
nsv1073893 CNV deletion 25765185
nsv428117 CNV gain+loss 18775914
nsv433371 CNV gain 18776910
nsv469668 CNV gain 16826518
nsv471433 CNV gain 19718026
nsv471547 CNV gain 19718026
nsv507261 OTHER sequence alteration 20534489
nsv508367 CNV deletion 20534489
nsv511104 OTHER inversion 20534489
nsv511106 OTHER inversion 20534489
nsv511274 CNV gain 21212237
nsv511285 CNV gain 21212237
nsv511305 CNV gain 21212237
nsv514311 CNV gain+loss 21397061
nsv598462 CNV gain 21841781
nsv598473 CNV loss 21841781
nsv598503 CNV loss 21841781
nsv598504 CNV loss 21841781
nsv598508 CNV loss 21841781
nsv598509 CNV loss 21841781
nsv598512 CNV loss 21841781
nsv598513 CNV loss 21841781
nsv598514 CNV loss 21841781
nsv598533 CNV loss 21841781
nsv598536 CNV gain 21841781
nsv598543 CNV loss 21841781
nsv598545 CNV loss 21841781
nsv598556 CNV loss 21841781
nsv7371 OTHER inversion 18451855
nsv821643 CNV loss 15273396
nsv830335 CNV gain 17160897
nsv830339 CNV gain 17160897
nsv955837 CNV deletion 24416366
nsv964884 CNV duplication 23825009

Variation tolerance for SMN1 Gene

Gene Damage Index Score: 0.03; 0.79% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SMN1 Gene

Human Gene Mutation Database (HGMD)
SMN1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMN1 Gene

Disorders for SMN1 Gene

MalaCards: The human disease database

(21) MalaCards diseases for SMN1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spinal muscular atrophy-3
  • spinal muscular atrophy, type iii, modifier of
spinal muscular atrophy-1
  • spinal muscular atrophy, type i
spinal muscular atrophy-2
  • spinal muscular atrophy, type ii
spinal muscular atrophy-4
  • spinal muscular atrophy, type iv
spinal muscular atrophy
  • kugelberg-welander disease
- elite association - COSMIC cancer census association via MalaCards
Search SMN1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SMN_HUMAN
  • Spinal muscular atrophy 1 (SMA1) [MIM:253300]: A form of spinal muscular atrophy, a group of neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Autosomal recessive forms are classified according to the age of onset, the maximum muscular activity achieved, and survivorship. The severity of the disease is mainly determined by the copy number of SMN2, a copy gene which predominantly produces exon 7-skipped transcripts and only low amount of full-length transcripts that encode for a protein identical to SMN1. Only about 4% of SMA patients bear one SMN1 copy with an intragenic mutation. SMA1 is a severe form, with onset before 6 months of age. SMA1 patients never achieve the ability to sit. {ECO:0000269 PubMed:10732817, ECO:0000269 PubMed:15249625, ECO:0000269 PubMed:15580564, ECO:0000269 PubMed:7813012, ECO:0000269 PubMed:9147655}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spinal muscular atrophy 2 (SMA2) [MIM:253550]: An autosomal recessive form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. It has intermediate severity, with onset between 6 and 18 months. Patients do not reach the motor milestone of standing, and survive into adulthood. {ECO:0000269 PubMed:10732802, ECO:0000269 PubMed:9158159, ECO:0000269 PubMed:9837824}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spinal muscular atrophy 3 (SMA3) [MIM:253400]: An autosomal recessive form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Onset is after 18 months. Patients develop ability to stand and walk and survive into adulthood. {ECO:0000269 PubMed:10732817, ECO:0000269 PubMed:9158159, ECO:0000269 PubMed:9837824}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spinal muscular atrophy 4 (SMA4) [MIM:271150]: An autosomal recessive form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Onset is in adulthood, disease progression is slow, and patients can stand and walk. {ECO:0000269 PubMed:7658877, ECO:0000269 PubMed:8551862}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SMN1

Genetic Association Database (GAD)
SMN1
Human Genome Epidemiology (HuGE) Navigator
SMN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SMN1
genes like me logo Genes that share disorders with SMN1: view

No data available for Genatlas for SMN1 Gene

Publications for SMN1 Gene

  1. [Molecular analysis of survival motor neuron gene in 338 suspicious children patients with spinal muscular atrophy]. (PMID: 19134255) Song F. … Jin Y.W. (Zhonghua Er Ke Za Zhi 2008) 3 22 46 64
  2. C117T variant in the SMN1 gene found in the Japanese population. (PMID: 17250497) Sadewa A.H. … Nishio H. (Pediatr Int 2007) 3 22 46 64
  3. Molecular analysis of the SMN1 and NAIP genes in Iranian patients with spinal muscular atrophy. (PMID: 18071605) Derakhshandeh-Peykar P. … Farhud D.D. (Ann. Acad. Med. Singap. 2007) 3 22 46 64
  4. Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy. (PMID: 15580564) Sun Y. … Wirth B. (Hum. Mutat. 2005) 3 4 22 64
  5. SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS. (PMID: 16093455) Veldink J.H. … Van den Berg L.H. (Neurology 2005) 3 22 46 64

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