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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SMN1 Gene

protein-coding GIFtS: 66
GCID: GC05P070257

survival of motor neuron 1, telomeric

(Previous names: spinal muscular atrophy (Werdnig-Hoffmann disease, Kugelberg-Welander...)
(Previous symbols: SMA@, SMA)

Explore 35 diseases affiliated with
SMN1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Survival Of Motor Neuron 1, Telomeric¹ ²		SMN² ³
SMNT¹ ² ³		SMA4² ⁵
SMA1¹ ² ⁵		Spinal Muscular Atrophy (Werdnig-Hoffmann Disease, Kugelberg-Welander Disease)¹
SMA2¹ ² ⁵		T-BCD541²
SMA3¹ ² ⁵		Gemin-1³
BCD541¹ ²		Survival Motor Neuron 1 Protein²
GEMIN1¹ ²		Survival Motor Neuron Protein²
SMA¹ ²		Tudor Domain Containing 16A²
SMA@¹ ²		Gemin-1³
TDRD16A¹ ²		SMNC³
Component Of Gems 1² ³

External Ids:	HGNC: 11117¹	Entrez Gene: 6606²	Ensembl: ENSG00000172062⁷	OMIM: 600354⁵	UniProtKB: Q16637³

Export aliases for SMN1 gene to outside databases

Previous GC identifers: GC05M069123 GC05M070536 GC05M069032 GC05M069077 GC05P069381 GC05P065882

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SMN1:

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. Two transcript variants encoding distinct isoforms have been described.

(provided by RefSeq, Sep 2008)

UniProtKB/Swiss-Prot: SMN_HUMAN, Q16637

Function: The SMN complex plays an essential role in spliceosomal snRNP assembly in the cytoplasm and is required for

pre-mRNA splicing in the nucleus. It may also play a role in the metabolism of snoRNPs

Gene Wiki entry for SMN1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000005.9 NC_018916.1 NT_006713.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SMN1 gene promoter:
CREB C/EBPbeta deltaCREB
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SMN1 promoter sequence

Search SABiosciences Chromatin IP Primers for SMN1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SMN1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q13.2 Ensembl cytogenetic band: 5q13.2 HGNC cytogenetic band: 5q13.2

SMN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SMN1 gene location

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05P070257: view genomic region (about GC identifiers)

Start:	70,220,768 bp from pter	End:	70,249,769 bp from pter
Size:	29,002 bases	Orientation:	plus strand

1 alternative location:

Chr5-,PATCHES 69,362,772-69,390,839

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SMN_HUMAN, Q16637 (See protein sequence)

Recommended Name: Survival motor neuron protein

Size: 294 amino acids; 31849 Da

Subunit: Component of an import snRNP complex composed of KPNB1, RNUT1, SMN1 and ZNF259. Part of the core SMN complex

that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP. Interacts with

DDX20, FBL, NOLA1, RNUT1, SYNCRIP and with several spliceosomal snRNP core Sm proteins, including SNRPB, SNRPD1,

SNRPD2, SNRPD3, SNRPE and ILF3. Interacts with OSTF1, LSM10 and LSM11

Subcellular location: Cytoplasm. Nucleus, gem. Note=Localized in subnuclear structures next to coiled bodies, called

Gemini of Cajal bodies (Gems)

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

6/7 PDB 3D structures from and Proteopedia for SMN1 (see all 7):

1G5V (3D)

1MHN (3D)

2LEH (3D)

3S6N (3D)

4A4E (3D)

4A4G (3D)

Secondary accessions: A8K0V4 Q13119 Q549U5 Q96J51

Alternative splicing: 4 isoforms: Q16637-1 Q16637-2 Q16637-3 Q16637-4 (Thought to be a nonfunctional protein that lacks the capacity to oligomerize and thus cannot interact with Sm proteins. Primarily derived from SMN2 gene)

Explore the universe of human proteins at neXtProt for SMN1: NX_Q16637

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q16637

SMN1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_000335.1 NP_075012.1

ENSEMBL proteins:

ENSP00000428128 ENSP00000370083 ENSP00000423298 ENSP00000422679 ENSP00000424926

ENSP00000430657 ENSP00000305857

Reactome Protein details: Q16637
Human Recombinant Protein Products:

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	Novus Biologicals SMN1 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for SMN1

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	--	--
GO:0005654	nucleoplasm	--	--
GO:0005681	spliceosomal complex	--	--
GO:0005737	cytoplasm	--	--
GO:0005829	cytosol	--	--

SMN1 for ontologies About GeneDecksing

SMN1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of SMN1
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	GenScript Custom Assay Services for SMN1
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	Uscn ELISAs and CLIAs for SMN1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SMN1 for domains About GeneDecksing

2 InterPro domains/families:

IPR010304 Survival_motor_neuron

IPR002999 Tudor

Graphical View of Domain Structure for InterPro Entry Q16637

ProtoNet protein and cluster: Q16637

2 Blocks protein families:

IPB002999 Tudor domain

IPB010304 Survival motor neuron

UniProtKB/Swiss-Prot: SMN_HUMAN, Q16637

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

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: SMN_HUMAN, Q16637

Function: The SMN complex plays an essential role in spliceosomal snRNP assembly in the cytoplasm and is required for

pre-mRNA splicing in the nucleus. It may also play a role in the metabolism of snoRNPs

Genatlas biochemistry entry for SMN1:

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

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Gene Editing
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for SMN1
		Search LifeMap BioReagents cell lines for SMN1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMN1

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003723	RNA binding	--	--
GO:0005515	protein binding	--	--

SMN1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for SMN1:

Increased S DNA content

Animal Models:
Mouse knock-outs for SMN1: Smn1^tm1Hung Smn1^tm1.1Jme
15/19 MGI mutant phenotypes (inferred from 14 alleles) (MGI details for Smn1) (see all 19):

behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary
embryogenesis	growth/size	hearing/vestibular/ear	homeostasis/metabolism	integument
limbs/digits/tail	mortality/aging	muscle	nervous system	no phenotypic analysis

SMN1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

SLBP independent Processing of Histone Pre-mRNAs

Metabolism of non-coding RNA

0.28

snRNP Assembly

0.28

RNA transport

RNA transport

1.00

Metabolism of mRNA

Metabolism of RNA

0.92

Generic Transcription Pathway

Gene Expression

0.46

Pathway sources
See GeneCards unified pathways
Show all pathways

4 Reactome Pathways for SMN1

	snRNP Assembly
	Metabolism of RNA
	Gene Expression
	Metabolism of non-coding RNA

1 Kegg Pathway (Kegg details for SMN1):

RNA transport

SMN1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for SMN1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/917 Interacting proteins for SMN1 (Q16637^{1, 2, 3} ENSP00000370083⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 917)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HIST1H4A	P62805³, ENSP00000352980⁴	I2D: score=1 STRING: ENSP00000352980
HIST1H4B	P62805³	I2D: score=1
HIST1H4C	P62805³	I2D: score=1
HIST1H4D	P62805³	I2D: score=1
HIST1H4E	P62805³	I2D: score=1

About this table

Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000245	spliceosomal complex assembly	--	--
GO:0000387	spliceosomal snRNP assembly	--	--
GO:0006397	mRNA processing	--	--
GO:0008219	cell death	--	--
GO:0010467	gene expression	--	--

SMN1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

SMN1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SMN1
10/11 Novoseek chemical compound relationships for SMN1 gene (see all 11) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
phenylbutyrate	73.3	6	15523494 (3), 14560316 (2), 18633133 (1)
gemini	55.3	1	14697339 (1)
valproic acid	49.2	17	14595654 (3), 16611218 (2), 12915451 (2), 19733665 (2) (see all 8)
aclarubicin	29.1	1	11734549 (1)
aminoglycosides	19.4	8	15790598 (2), 16951947 (2), 19625298 (1), 19150990 (1)
valproate	16.8	3	16607616 (1), 16775228 (1), 18633133 (1)
oligonucleotide	11.9	6	9987714 (1), 16449646 (1), 17647030 (1), 19535574 (1)
ribonucleic acid	10	2	17761657 (2)
arginine	8.02	13	12244096 (4), 11720283 (1), 12486110 (1), 11389857 (1) (see all 8)
tyrosine	1.54	1	9158159 (1)

Search CenterWatch for drugs/clinical trials and news about SMN1 / SMN

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SMN1 gene (2 alternative transcripts):

NM_000344.3 NM_022874.2

Unigene Cluster for SMN1:

Survival of motor neuron 1, telomeric

Hs.535788 [show with all ESTs]

Unigene Representative Sequence: NM_000344

10 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000503079 ENST00000380707(uc003kak.3 uc003kam.3) ENST00000514951(uc011crr.2)

ENST00000506239 ENST00000506163 ENST00000518504 ENST00000507905 ENST00000513228

ENST00000510679 ENST00000351205(uc003kal.3 uc003kan.3)

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SMN1

Additional cDNA sequence:

AK298203.1 BC062723.1 JQ657798.1 JQ657799.1 JQ657800.1 JQ657801.1 JQ657802.1 JQ657803.1

JQ690867.1 JQ690868.1 JQ732166.1 JQ732167.1 JQ745297.1 U18423.1

16 DOTS entries:

DT.91752366 DT.100810925 DT.100799306 DT.100810924 DT.95367668 DT.91752362 DT.100018657 DT.100810926

DT.99958452 DT.100661323 DT.100810917 DT.120845147 DT.100708213 DT.100765329 DT.428244 DT.91693694

24/485 AceView cDNA sequences (see all 485):

AF073520 AA490188 CA426506 AW589894 AA954014 AA973579 AI214382 AI708117

AA770391 BM711678 BI789150 AI247115 CK904564 CB113391 BM142213 CA418286

AA989486 AV702489 CF264673 W58235 AL702418 BU728019 AI702752 CB306328

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SMN1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCTGTTCATT

About this image

SMN1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Skeletal Muscle

Hyoid Arch Muscles

Mononuclear Myocytes

Skeletal Muscle

Mandibular Arch Muscles

Mononuclear Myocytes

Skeletal Muscle

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See SMN1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SMN1

SOURCE GeneReport for Unigene cluster: Hs.535788

UniProtKB/Swiss-Prot: SMN_HUMAN, Q16637

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)

SABiosciences Custom PCR Arrays for SMN1

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for SMN1 gene from 6/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	SMN¹	survival of motor neuron	67.07(n) 64.78(a)		374025 NM_204199.1 NP_989530.1
lizard (Anolis carolinensis)	Reptilia	--	--	62(a)	1 → many	2(16890021-16899453)
African clawed frog (Xenopus laevis)	Amphibia	LOC398438²	hypothetical protein LOC398438	75.59(n)		BC045073.1
zebrafish (Danio rerio)	Actinopterygii	smn²	survival motor neuron	77.81(n)		30432 BC060942.1
fruit fly (Drosophila melanogaster)	Insecta	Smn⁶	survival motor neuron	27(a)	1 → many	3L(16573498-16574647)
worm (Caenorhabditis elegans)	Secernentea	smn-1⁶	SMN (human Survival Motor Neuron gene) homolog fam...	32(a)	1 → many	I(9511182-9512131)

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for SMN1 gene

SMN2¹ ² SMNDC1²

2 SIMAP similar genes for SMN1 using alignment to 7 protein entries: SMN_HUMAN (see all proteins):

SMN SMN2

SMN1 for paralogs About GeneDecksing

2 Pseudogenes.org Pseudogenes for SMN1
PGOHUM00000245781 PGOHUM00000236401

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104893930^1,2	C	pathogenic	70234672(+)	`GCGATA/GATTCT`	8	N D	mis¹		0	--	--	--	--
rs104893931^1,2	C	pathogenic	70234715(+)	`ATATGA/TTAAAG`	8	D V	mis¹		0	--	--	--	--
rs104893927^1,2	C	pathogenic	70238194(+)	`AAGTTC/GGGGAC`	8	R G	mis¹		0	--	--	--	--
rs77804083^1,2	C	pathogenic	70238216(-)	`CTGACC/TAAATG`	8	* W	stg¹		0	--	--	--	--
rs104893935^1,2	C	pathogenic	70238243(+)	`CCCAGC/GTACCA`	8	A G	mis¹		0	--	--	--	--
rs104893933^1,2	C	pathogenic	70238257(+)	`CTTCAA/TTTGAT`	8	I F	mis¹		0	--	--	--	--
rs104893934^1,2	C	pathogenic	70238317(+)	`AGGAGC/GAAAAT`	8	Q E	mis¹		0	--	--	--	--
rs75660264^1,2	C	pathogenic	70241954(+)	`GGGAAG/TTATGT`	8	S I	mis¹		0	--	--	--	--
rs76871093^1,2	C	pathogenic	70241990(+)	`TCATAC/TTGGCT`	8	T I	mis¹		0	--	--	--	--
rs181959433^1,2		--	70218828(+)	`GTCCAC/GGTAAT`	2	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for SMN1 (70220768 - 70249769 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 47 variations for SMN1
15/45 CNVs (see all 45): 4452 69103 69125 4449 69095 31241 69097 69087 32723 69094 93094 69093 37550 7500 69126
2 Inversions: 37264 37263
Human Gene Mutation Database (HGMD): SMN1

Locus Specific Mutation Databases (LSDB): SMN1

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

SMN1 for disorders           About GeneDecksing

OMIM gene information: 600354
OMIM disorders: 253300  253550  253400  271150
UniProtKB/Swiss-Prot: SMN_HUMAN, Q16637

Defects in SMN1 are the cause of spinal muscular atrophy autosomal recessive type 1 (SMA1) [MIM:253300].

Spinal muscular atrophy refers to a group of neuromuscular disorders 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

Defects in SMN1 are the cause of spinal muscular atrophy autosomal recessive type 2 (SMA2) [MIM:253550]. SMA2

is an autosomal recessive spinal muscular atrophy of intermediate severity, with onset between 6 and 18 months.

Patients do not reach the motor milestone of standing, and survive into adulthood

Defects in SMN1 are the cause of spinal muscular atrophy autosomal recessive type 3 (SMA3) [MIM:253400]. SMA3

is an autosomal recessive spinal muscular atrophy with onset after 18 months. SMA3 patients develop ability to stand

and walk and survive into adulthood

Defects in SMN1 are the cause of spinal muscular atrophy autosomal recessive type 4 (SMA4) [MIM:271150]. SMA4

is an autosomal recessive spinal muscular atrophy characterized by symmetric proximal muscle weakness with onset in

adulthood and slow disease progression. SMA4 patients can stand and walk

20/35 diseases for SMN1 (see all 35): About MalaCards

spinal muscular atrophy muscular atrophy werdnig-hoffmann disease spinal muscular atrophy 1

spinal muscular atrophy (smn2) proximal spinal muscular atrophy werdnig-hoffman disease anterior horn cell disease

spinal cord disease monomelic amyotrophy cytoplasmic body myopathy neuronitis

progressive muscular atrophy motor neuron disease lower motor neuron disease amyotrophic lateral sclerosis

gangliosidosis lateral sclerosis congenital heart defect neuromuscular disease

4 diseases from the University of Copenhagen DISEASES database for SMN1:

Spinal muscular atrophy Muscular atrophy Neuropathy Autosomal recessive disease

10/30 Novoseek disease relationships for SMN1 gene (see all 30) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
muscular atrophy spinal	99.2	487	17761651 (5), 15964810 (4), 17761649 (3), 17761657 (3) (see all 99)
werdnig-hoffmann disease	93.1	22	11504604 (2), 9363657 (1), 9719377 (1), 18662980 (1) (see all 19)
sma iii	92.5	13	8595417 (1), 9713008 (1), 11987841 (1), 8730281 (1) (see all 11)
sma ii	90	8	8595417 (2), 11287750 (2), 10652743 (1), 16936383 (1) (see all 6)
neuromuscular diseases	85.6	45	9735373 (1), 10501549 (1), 15832310 (1), 17027862 (1) (see all 40)
motor neuron disease	79.7	25	19716110 (1), 9259265 (1), 9585359 (1), 11313744 (1) (see all 23)
spinal disorder	79.1	28	9719377 (1), 11509571 (1), 15964810 (1), 11121410 (1) (see all 25)
motor neuron disease lower	74.2	6	9585359 (1), 11993528 (1), 18367439 (1), 16931506 (1) (see all 6)
atrophy	66.8	7	16108074 (1), 19517146 (1), 19351384 (1), 17511908 (1) (see all 7)
neurodegenerative diseases	63.5	32	11509571 (1), 12878704 (1), 16385450 (1), 12833158 (1) (see all 29)

GeneTests: SMN1

Spinal Muscular Atrophy

Genetic Association Database (GAD): SMN1
Human Genome Epidemiology (HuGE) Navigator: SMN1 (34 documents)

Export disorders for SMN1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for SMN1 gene, integrated from 9 sources (see all 545):
(articles sorted by number of sources associating them with SMN1)

Utopia: connect your pdf to the dynamic
world of online information

Identification and characterization of a spinal muscular atrophy- determining gene. (PubMed id 7813012)^{1, 2, 3} Lefebvre S....Melki J. (1995)
SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS. (PubMed id 16093455)^{1, 4, 9} Veldink J.H....Van den Berg L.H. (2005)
Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy. (PubMed id 15580564)^{1, 2, 9} Sun Y.... Wirth B. (2005)
Quantitative studies on SMN1 gene and carrier testing of spinal muscular atrophy. (PubMed id 16331551)^{1, 4, 9} Chen W.J....Mu-rong S.X. (2005)
The survival motor neuron protein in spinal muscular atrophy. (PubMed id 9259265)^{1, 2, 9} Coovert D.D.... Burghes A.H.M. (1997)
A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing. (PubMed id 9845364)^{1, 2, 9} Pellizzoni L.... Dreyfuss G. (1998)
Sequence of a 131-kb region of 5q13.1 containing the spinal muscular atrophy candidate genes SMN and NAIP. (PubMed id 9503025)^{1, 2, 9} Chen Q....MacKenzie A.E. (1998)
The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins. (PubMed id 9323129)^{1, 2, 9} Liu Q.... Dreyfuss G. (1997)
Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis. (PubMed id 11835381)^{1, 4, 9} Corcia P....Andres C. (2002)
Identification of a novel missense mutation of the smnt gene in two siblings with spinal muscular atrophy. (PubMed id 10732802)^{1, 2, 9} Wang C.H.... Day J.K. (1998)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 6606	HGNC: 11117	AceView: SMN1	Ensembl:ENSG00000172062	euGenes: HUgn6606
ECgene: SMN1	Kegg: 6606	H-InvDB: SMN1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for SMN1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SMN1
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SMN2
SHMPD	http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=SMN1

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SMN1 Gene

survival of motor neuron 1, telomeric

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

Neurodegenerative Diseases
Arthrogryposis
Pathological Processes
Hypoplasia
Motor Neuron Disease
Muscular Dystrophies
GM2 Gangliosidosis
Progressive Muscular Atrophy
Cystic Fibrosis
Motor Neuron Disease Lower
Werdnig-Hoffmann Disease
Paralysis
SMA III
Spinal disorder
Atrophy
Anterior Horn Cell Disease
Asphyxia
neuron loss
neurodegeneration
SMA II
Myotonic Dystrophy
brain atrophy
Muscular Atrophy Spinal
Neuromuscular Diseases
genetic disorder
Myopathy
disability
Amyotrophic Lateral Sclerosis
Protein Deficiency
Neurodegenerative Diseases Hereditary
Spinal Muscular Atrophy

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SMN1 Gene

survival of motor neuron 1, telomeric

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