SMN1 - survival of motor neuron 1, telomeric Gene
Also Known as SMA; SMN; SMA1; SMA2; SMA3; SMA4; SMA@; SMNT; BCD541; GEMIN1; TDRD16A; T-BCD541
Species: Homo sapiens
About SMN1
This gene has 11 transcripts (splice variants), 1 gene allele, 225 orthologues, 2 paralogues and is associated with 8 phenotypes. Ubiquitous expression in bone marrow (RPKM 24.8), testis (RPKM 21.9) and 25 other tissues.
Summary
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]
SMN1 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_000344.4 | NP_000335.1 | survival motor neuron protein isoform d |
| NM_001297715.1 | NP_001284644.1 | survival motor neuron protein isoform a |
| NM_022874.2 | NP_075012.1 | survival motor neuron protein isoform b |
SMN1 Protein Structure
SMN: Survival motor neuron protein (SMN) (26 - 206)
- 0
- 100
- 200
- 262 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
survival motor neuron protein |
|
SMN1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
SMN1 | Q16637 | FAM9B | Homo sapiens | Q8IZU0 | 25416956 | |
|
Intra
|
SMN1 | Q16637 | FAM9B | Homo sapiens | Q8IZU0 | 32296183 | |
|
Intra
|
SMN1 | Q16637 | FAM9B | Homo sapiens | Q8IZU0 | 25416956 | |
|
Intra
|
SMN1 | Q16637 | HNRNPUL1 | Homo sapiens | Q9BUJ2 | 22365833 | |
|
Intra
|
SMN1 | Q16637 | HNRNPUL1 | Homo sapiens | Q9BUJ2 | 25416956 | |
|
Intra
|
SMN1 | Q16637 | HNRNPUL1 | Homo sapiens | Q9BUJ2 | 25416956 | |
|
Intra
|
SMN1 | Q16637 | HNRNPUL1 | Homo sapiens | Q9BUJ2 | 25416956 | |
|
Intra
|
SMN1 | Q16637 | IQUB | Homo sapiens | Q8NA54 | 32296183 | |
|
Intra
|
SMN1 | Q16637 | KRTAP19-7 | Homo sapiens | Q3SYF9 | 32296183 | |
|
Intra
|
SMN1 | Q16637 | KRTAP19-7 | Homo sapiens | Q3SYF9 | 32296183 | |
|
Intra
|
SMN1 | Q16637 | KRTAP19-7 | Homo sapiens | Q3SYF9 | 32296183 | |
|
Intra
|
SMN1 | Q16637 | SNRNP70 | Homo sapiens | P08621 | 24981860 | |
|
Intra
|
SMN1 | Q16637 | SNRNP70 | Homo sapiens | P08621 | 19928837 | |
|
Intra
|
SMN1 | Q16637 | SNRNP70 | Homo sapiens | P08621 | 35271311 | |
|
Intra
|
SMN1 | Q16637 | KRTAP6-2 | Homo sapiens | Q3LI66 | 32296183 | |
|
Intra
|
SMN1 | Q16637 | KRTAP6-2 | Homo sapiens | Q3LI66 | 32296183 | |
|
Intra
|
SMN1 | Q16637 | KRTAP6-2 | Homo sapiens | Q3LI66 | 32296183 | |
|
Intra
|
SMN1 | Q16637 | CHTOP | Homo sapiens | Q9Y3Y2-3 | 32296183 | |
|
Intra
|
SMN1 | Q16637 | SPANXN2 | Homo sapiens | Q5MJ10 | 32296183 | |
|
Intra
|
SMN1 | Q16637 | KRTAP6-1 | Homo sapiens | Q3LI64 | 32296183 | |
|
Intra
|
SMN1 | Q16637 | KRTAP6-1 | Homo sapiens | Q3LI64 | 32296183 | |
|
Intra
|
SMN1 | Q16637 | KRTAP6-1 | Homo sapiens | Q3LI64 | 32296183 | |
|
Intra
|
SMN1 | Q16637 | SETX | Homo sapiens | Q7Z333 | 26700805 | |
|
Intra
|
SMN1 | Q16637 | KRTAP19-6 | Homo sapiens | Q3LI70 | 32296183 | |
|
Intra
|
SMN1 | Q16637 | KRTAP19-6 | Homo sapiens | Q3LI70 | 32296183 | |
|
Intra
|
SMN1 | Q16637 | KRTAP19-6 | Homo sapiens | Q3LI70 | 32296183 | |
|
Intra
|
SMN1 | Q16637 | KPNB1 | Homo sapiens | Q14974-1 | 21072240 | |
|
Intra
|
SMN1 | Q16637 | KRTAP21-2 | Homo sapiens | Q3LI59 | 32296183 | |
|
Intra
|
SMN1 | Q16637 | KRTAP21-2 | Homo sapiens | Q3LI59 | 32296183 | |
|
Intra
|
SMN1 | Q16637 | KRTAP21-2 | Homo sapiens | Q3LI59 | 32296183 | |
|
Intra
|
SMN1 | Q16637 | POLR2A | Homo sapiens | P24928 | 26700805 | |
|
Intra
|
SMN1 | Q16637 | POLR2A | Homo sapiens | P24928 | 26700805 | |
|
Intra
|
SMN1 | Q16637 | POLR2A | Homo sapiens | P24928 | 26700805 | |
|
Intra
|
SMN1 | Q16637 | DDX20 | Homo sapiens | Q9UHI6 | 24981860 | |
|
Intra
|
SMN1 | Q16637 | DDX20 | Homo sapiens | Q9UHI6 | 19928837 | |
|
Intra
|
SMN1 | Q16637 | DDX20 | Homo sapiens | Q9UHI6 | 11714716 | |
|
Intra
|
SMN1 | Q16637 | DDX20 | Homo sapiens | Q9UHI6 | 23752268 | |
|
Intra
|
SMN1 | Q16637 | DDX20 | Homo sapiens | Q9UHI6 | 35271311 | |
|
Intra
|
SMN1 | Q16637 | DDX20 | Homo sapiens | Q9UHI6 | 21072240 | |
|
Intra
|
SMN1 | Q16637 | BYSL | Homo sapiens | Q13895 | 25416956 | |
|
Intra
|
SMN1 | Q16637 | BYSL | Homo sapiens | Q13895 | 25416956 | |
|
Intra
|
SMN1 | Q16637 | POP7 | Homo sapiens | O75817 | 14715275 | |
|
Intra
|
SMN1 | Q16637 | SNRPD1 | Homo sapiens | P62314 | 24981860 | |
|
Intra
|
SMN1 | Q16637 | SNRPD1 | Homo sapiens | P62314 | 35271311 | |
|
Intra
|
SMN1 | Q16637 | SNRPD1 | Homo sapiens | P62314 | 11135666 | |
|
Intra
|
SMN1 | Q16637 | SNRPD1 | Homo sapiens | P62314 | 21816274 | |
|
Intra
|
SMN1 | Q16637 | SNRPD1 | Homo sapiens | P62314 | 19928837 | |
|
Intra
|
SMN1 | Q16637 | SMN1 | Homo sapiens | Q16637 | 23022347 | |
|
Intra
|
SMN1 | Q16637 | SMN1 | Homo sapiens | Q16637 | 29997244 | |
|
Intra
|
SMN1 | Q16637 | SMN1 | Homo sapiens | Q16637 | 32814053 | |
|
Intra
|
SMN1 | Q16637 | SMN1 | Homo sapiens | Q16637 | 32296183 | |
|
Intra
|
SMN1 | Q16637 | SMN1 | Homo sapiens | Q16637 | 25416956 | |
|
Intra
|
SMN1 | Q16637 | SMN1 | Homo sapiens | Q16637 | 19928837 | |
|
Intra
|
SMN1 | Q16637 | SMN1 | Homo sapiens | Q16637 | 32296183 | |
|
Intra
|
SMN1 | Q16637 | SMN1 | Homo sapiens | Q16637 | 8670859 | |
|
Intra
|
SMN1 | Q16637 | SMN1 | Homo sapiens | Q16637 | 23022347 | |
|
Intra
|
SMN1 | Q16637 | SMN1 | Homo sapiens | Q16637 | 29997244 | |
|
Intra
|
SMN1 | Q16637 | SMN1 | Homo sapiens | Q16637 | 16189514 | |
|
Intra
|
SMN1 | Q16637 | SMN1 | Homo sapiens | Q16637 | 23022347 | |
|
Intra
|
SMN1 | Q16637 | SMN1 | Homo sapiens | Q16637 | 23022347 | |
|
Intra
|
SMN1 | Q16637 | SMN1 | Homo sapiens | Q16637 | 35271311 | |
|
Intra
|
SMN1 | Q16637 | SMN1 | Homo sapiens | Q16637 | 21516116 | |
|
Intra
|
SMN1 | Q16637 | SMN1 | Homo sapiens | Q16637 | 14715275 | |
|
Intra
|
SMN1 | Q16637 | SMN1 | Homo sapiens | Q16637 | 23022347 | |
|
Intra
|
SMN1 | Q16637 | SMN1 | Homo sapiens | Q16637 | 23022347 | |
|
Intra
|
SMN1 | Q16637 | SMN1 | Homo sapiens | Q16637 | 22365833 | |
|
Intra
|
SMN1 | Q16637 | SMN1 | Homo sapiens | Q16637 | 32296183 | |
|
Intra
|
SMN1 | Q16637 | PPIG | Homo sapiens | Q13427 | 25416956 | |
|
Intra
|
SMN1 | Q16637 | PPIG | Homo sapiens | Q13427 | 25416956 | |
|
Intra
|
SMN1 | Q16637 | GEMIN5 | Homo sapiens | Q8TEQ6 | 11714716 | |
|
Intra
|
SMN1 | Q16637 | GEMIN5 | Homo sapiens | Q8TEQ6 | 35271311 | |
|
Intra
|
SMN1 | Q16637 | GEMIN5 | Homo sapiens | Q8TEQ6 | 11714716 | |
|
Intra
|
SMN1 | Q16637 | GEMIN5 | Homo sapiens | Q8TEQ6 | 11714716 | |
|
Intra
|
SMN1 | Q16637 | GEMIN2 | Homo sapiens | O14893 | 24981860 | |
|
Intra
|
SMN1 | Q16637 | GEMIN2 | Homo sapiens | O14893 | 9323129 | |
|
Intra
|
SMN1 | Q16637 | GEMIN2 | Homo sapiens | O14893 | 21900206 | |
|
Intra
|
SMN1 | Q16637 | GEMIN2 | Homo sapiens | O14893 | 11714716 | |
|
Intra
|
SMN1 | Q16637 | GEMIN2 | Homo sapiens | O14893 | 21816274 | |
|
Intra
|
SMN1 | Q16637 | GEMIN2 | Homo sapiens | O14893 | 32296183 | |
|
Intra
|
SMN1 | Q16637 | GEMIN2 | Homo sapiens | O14893 | 35271311 | |
|
Intra
|
SMN1 | Q16637 | GEMIN2 | Homo sapiens | O14893 | 19928837 | |
|
Intra
|
SMN1 | Q16637 | GEMIN2 | Homo sapiens | O14893 | 11714716 | |
|
Intra
|
SMN1 | Q16637 | BLOC1S6 | Homo sapiens | Q9UL45 | 32296183 | |
|
Intra
|
SMN1 | Q16637 | BLOC1S6 | Homo sapiens | Q9UL45 | 25416956 | |
|
Intra
|
SMN1 | Q16637 | MAP3K5 | Homo sapiens | Q99683 | 21496457 | |
|
Intra
|
SMN1 | Q16637 | MAP3K5 | Homo sapiens | Q99683 | 21496457 | |
|
Intra
|
SMN1 | Q16637 | MAGED1 | Homo sapiens | Q9Y5V3 | 32296183 | |
|
Intra
|
SMN1 | Q16637 | VPS28 | Homo sapiens | Q9UK41 | 21516116 | |
|
Intra
|
SMN1 | Q16637 | FNDC11 | Homo sapiens | Q9BVV2 | 32296183 | |
|
Intra
|
SMN1 | Q16637 | SF3B2 | Homo sapiens | Q13435 | 25737013 | |
|
Intra
|
SMN1 | Q16637 | SF3B2 | Homo sapiens | Q13435 | 25737013 | |
|
Intra
|
SMN1 | Q16637 | SF3B2 | Homo sapiens | Q13435 | 25737013 | |
|
Intra
|
SMN1 | Q16637 | MBD2 | Homo sapiens | Q9UBB5 | 21653829 | |
|
Intra
|
SMN1 | Q16637 | MBD2 | Homo sapiens | Q9UBB5 | 21653829 | |
|
Intra
|
SMN1 | Q16637 | COIL | Homo sapiens | P38432 | 21072240 | |
|
Cross
|
SMN1 | Q16637 | Smn | Drosophila melanogaster | Q9VV74 | 14715275 | |
|
Cross
|
SMN1 | Q16637 | Smn | Drosophila melanogaster | Q9VV74 | 14715275 |
SMN1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P82449 | SMN1 Antibody (YA2194) | WB, IHC-P, IP | Human, Mouse, Rat |
| HY-P84617 | SMN1 Antibody (YA4314) | WB, IHC-P, FC, ELISA | Human, Monkey |
| HY-P84617A | SMN1 Antibody (YA4314)(PBS only) | WB, IHC-P, FC, ELISA | Human, Monkey |
| HY-P84618 | SMN1 Antibody (YA4315) | WB, IHC-P, ICC/IF, ELISA | Human, Monkey |
| HY-P84618A | SMN1 Antibody (YA4315)(PBS only) | WB, IHC-P, ICC/IF, ELISA | Human, Monkey |
| HY-P85371 | SMN1 Antibody (YA5063) | WB; IHC-P; IHC-F; IP; IF-Tissue | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Spinal Muscular Atrophy, Type I |
|
|
| Spinal Muscular Atrophy, Type Iii |
|
|
| Spinal Muscular Atrophy, Type Ii |
|
|
| Spinal Muscular Atrophy, Type Iv |
|
|
| Spinal Muscular Atrophy |
|
|
| Muscular Atrophy |
|
|
| Spinal Disease |
|
|
| Progressive Muscular Atrophy |
|
|
| Anterior Horn Cell Disease |
|
|
| Motor Neuron Disease |
|
|
| Childhood Spinal Muscular Atrophy |
|
|
| Neuromuscular Disease |
|
|
| Gm2 Gangliosidosis |
|
|
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
|
| Spinal Muscular Atrophy Type 0 |
|
|
| Autosomal Recessive Distal Hereditary Motor Neuronopathy |
|
|
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
|
| Muscle Tissue Disease |
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
|
| Spinal Muscular Atrophy, X-Linked 2 |
|
|
| Distal Arthrogryposis |
|
|
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
|
| Dubowitz Syndrome |
|
|
| Muscular Disease |
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2e |
|
|
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
|
| Neuronopathy, Distal Hereditary Motor, Type Va |
|
|
| 46,Xy Sex Reversal 1 |
|
|
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
|
| Myotonic Dystrophy 1 |
|
|
| Cardiomyopathy, Dilated, 2a |
|
|
| Cytomegalovirus Retinitis |
|
|
| Cardiomyopathy, Dilated, 1ff |
|
|
| Amyloidosis, Hereditary, Transthyretin-Related |
|
|
| Bone Structure Disease |
|
|
| Lethal Congenital Contracture Syndrome 4 |
|
|
| Tay-Sachs Disease |
|
|
| Pontocerebellar Hypoplasia |
|
|
| Myopathy |
|
|
| Peripheral Nervous System Disease |
|
|
| Congenital Myasthenic Syndrome |
|
|
| Neuronal Ceroid Lipofuscinosis |
|
|
| Charcot-Marie-Tooth Disease |
|
|
| Nervous System Disease |
|
|
| Hereditary Spastic Paraplegia |
|
|
| Leber Plus Disease |
|
|
| Fundus Dystrophy |
|
|
| Retinitis Pigmentosa |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | SMN1 | RGD | RGD:620755 |
| Mus musculus | SMN1 | MGD | MGI:109257 |