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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]
[中文简述(自动翻译):]  该基??因位于染色体5q13 500 kb的倒重复的一部分。这种重复区域包含至少四个基因和重复元件,这使得它易于重排和缺失。序列的重复性和复杂性也确定该基因组区域的组织造成的困难。该基因的端粒和着丝粒拷贝几乎是相同的,并且编码相同的蛋白质。然而,在该基因的端粒复制,突变与脊髓性肌萎缩相关联;在着丝粒拷贝的突变不会导致疾病。着丝粒副本可能引起的端粒复制突变疾病的改性剂。这两个基因之间的关键序列差异是外显子7的单核苷酸,这被认为是一个外显子剪接增强子。注意,无论是端粒和着丝粒拷贝的九个外显子历史指定为外显子1,图2a,2b和3-8。它被认为是基因转化事件可能涉及两个基因,导致改变每个基因的拷贝数。由该基因编码的蛋白质定位于细胞质和细胞核两者。在细胞核,蛋白质定位于亚核机构称为宝石这是附近发现含有高浓度的小核糖核蛋白(的snRNPs)的盘绕机构。该蛋白质的形式的异聚复合物与蛋白质如SIP1和GEMIN4,同时还与已知的能参与的snRNPs,如核糖核蛋白ù蛋白质和小核仁RNA结合蛋白的生物合成的几种蛋白质相互作用。编码不同同种型的多个转录物变体已有描述。 [由RefSeq的,2014年7月提供]
SMN1基因(以及对应的蛋白质)的细胞分布位置:
SMN1基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| HMN (Hereditary Motor Neuropathy) Proximal Type I | 0.447600372 | 31 | 5 | BeFree_CLINVAR_MGD_ORPHANET_UNIPROT |
| Juvenile Spinal Muscular Atrophy | 0.442714419 | 15 | 9 | BeFree_CLINVAR_MGD_ORPHANET_UNIPROT |
| Muscular Atrophy, Spinal, Type II | 0.361085767 | 8 | 5 | BeFree_CLINVAR_ORPHANET_UNIPROT |
| Spinal Muscular Atrophy | 0.28892053 | 604 | 0 | BeFree_CTD_human_GAD_LHGDN |
| SPINAL MUSCULAR ATROPHY, TYPE IV | 0.24 | 0 | 0 | CLINVAR_ORPHANET |
| Spinal Muscular Atrophies of Childhood | 0.132192478 | 6 | 0 | CTD_human_GAD_LHGDN |
| Spinal muscular atrophy 4 | 0.12 | 0 | 0 | CTD_human |
| Neuromuscular Diseases | 0.01302921 | 48 | 0 | BeFree |
| Motor Neuron Disease | 0.012681823 | 38 | 0 | BeFree_GAD |
| Amyotrophic Lateral Sclerosis | 0.012344368 | 20 | 0 | BeFree_GAD_LHGDN |
| Neurodegenerative Disorders | 0.007600372 | 28 | 0 | BeFree |
| Muscular Atrophy | 0.005167327 | 10 | 0 | BeFree_LHGDN |
| Muscular Dystrophy | 0.002995792 | 2 | 0 | BeFree_LHGDN |
| Muscle Weakness | 0.002985861 | 11 | 0 | BeFree |
| Disease due to Parvoviridae | 0.00272435 | 1 | 0 | LHGDN |
| Infection | 0.00272435 | 1 | 0 | LHGDN |
| Paresis | 0.002714419 | 10 | 0 | BeFree |
| Idiopathic Pulmonary Fibrosis | 0.002171535 | 8 | 0 | BeFree |
| Systemic Scleroderma | 0.001628651 | 6 | 0 | BeFree |
| Motor Neuron Disease, Lower | 0.001628651 | 6 | 0 | BeFree |
| Degenerative disorder | 0.001628651 | 6 | 0 | BeFree |
| Respiratory Failure | 0.001357209 | 5 | 0 | BeFree |
| Charcot-Marie-Tooth Disease | 0.001085767 | 4 | 0 | BeFree |
| Arthrogryposis | 0.000814326 | 3 | 0 | BeFree |
| Exanthema | 0.000814326 | 3 | 0 | BeFree |
| Protein Deficiency | 0.000814326 | 3 | 0 | BeFree |
| Ureteral obstruction | 0.000814326 | 3 | 0 | BeFree |
| Fibrosis, Liver | 0.000814326 | 3 | 0 | BeFree |
| Proliferative vitreoretinopathy | 0.000814326 | 3 | 0 | BeFree |
| MRSA - Methicillin resistant Staphylococcus aureus infection | 0.000814326 | 3 | 0 | BeFree |
| Amyotrophic Lateral Sclerosis, Sporadic | 0.000814326 | 3 | 0 | BeFree |
| Ameloblastoma | 0.000542884 | 2 | 0 | BeFree |
| Asthma | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of breast | 0.000542884 | 2 | 0 | BeFree |
| Malignant tumor of cervix | 0.000542884 | 2 | 0 | BeFree |
| Congenital Heart Defects | 0.000542884 | 2 | 0 | BeFree |
| Acute lymphocytic leukemia | 0.000542884 | 2 | 0 | BeFree |
| Leukemia, Myelocytic, Acute | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of stomach | 0.000542884 | 2 | 0 | BeFree |
| Myopathy | 0.000542884 | 2 | 0 | BeFree |
| Myocarditis | 0.000542884 | 2 | 0 | BeFree |
| Degenerative polyarthritis | 0.000542884 | 2 | 0 | BeFree |
| Pulmonary Fibrosis | 0.000542884 | 2 | 0 | BeFree |
| Spinal Diseases | 0.000542884 | 2 | 0 | BeFree |
| Renal fibrosis | 0.000542884 | 2 | 0 | BeFree |
| Floppy infant syndrome | 0.000542884 | 2 | 0 | BeFree |
| Cervix carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Distal Spinal Muscular Atrophy | 0.000542884 | 2 | 0 | BeFree |
| Breast Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Stomach Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Heredodegenerative Disorders, Nervous System | 0.000542884 | 2 | 0 | BeFree |
| Spots on skin | 0.000542884 | 2 | 0 | BeFree |
| Desmoplastic | 0.000542884 | 2 | 0 | BeFree |
| Amyotrophy, monomelic | 0.000542884 | 2 | 0 | BeFree |
| Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.000542884 | 2 | 0 | BeFree |
| Congenital Abnormality | 0.000271442 | 1 | 0 | BeFree |
| Congenital arteriovenous malformation | 0.000271442 | 1 | 0 | BeFree |
| Rheumatoid Arthritis | 0.000271442 | 1 | 0 | BeFree |
| Non-Small Cell Lung Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Renal Cell Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Carpal Tunnel Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Hemophilia B | 0.000271442 | 1 | 0 | BeFree |
| Contracture of joint | 0.000271442 | 1 | 0 | BeFree |
| Coughing | 0.000271442 | 1 | 0 | BeFree |
| Diabetic Nephropathy | 0.000271442 | 1 | 0 | BeFree |
| Dwarfism | 0.000271442 | 1 | 0 | BeFree |
| Subacute Bacterial Endocarditis | 0.000271442 | 1 | 0 | BeFree |
| Foot Deformities | 0.000271442 | 1 | 0 | BeFree |
| Glioma | 0.000271442 | 1 | 0 | BeFree |
| Heart Septal Defects | 0.000271442 | 1 | 0 | BeFree |
| Atrial Septal Defects | 0.000271442 | 1 | 0 | BeFree |
| Ventricular Septal Defects | 0.000271442 | 1 | 0 | BeFree |
| Von Hippel-Lindau Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Pulmonary Hypertension | 0.000271442 | 1 | 0 | BeFree |
| Alcoholic Liver Diseases | 0.000271442 | 1 | 0 | BeFree |
| Lupus Erythematosus, Systemic | 0.000271442 | 1 | 0 | BeFree |
| Microcephaly | 0.000271442 | 1 | 0 | BeFree |
| Muscle Cramp | 0.000271442 | 1 | 0 | BeFree |
| Myasthenia Gravis | 0.000271442 | 1 | 0 | BeFree |
| Neoplasm Metastasis | 0.000271442 | 1 | 0 | BeFree |
| Neoplasms, Vascular Tissue | 0.000271442 | 1 | 0 | BeFree |
| Neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
| Nodule | 0.000271442 | 1 | 0 | BeFree |
| Oral Submucous Fibrosis | 0.000271442 | 1 | 0 | BeFree |
| Pain | 0.000271442 | 1 | 0 | BeFree |
| Respiratory Tract Infections | 0.000271442 | 1 | 0 | BeFree |
| Skin Ulcer | 0.000271442 | 1 | 0 | BeFree |
| Severe Combined Immunodeficiency | 0.000271442 | 1 | 0 | BeFree |
| Polymyositis | 0.000271442 | 1 | 0 | BeFree |
| Cataract | 0.000271442 | 1 | 0 | BeFree |
| Pancreatitis, Chronic | 0.000271442 | 1 | 0 | BeFree |
| Sensory neuropathy | 0.000271442 | 1 | 0 | BeFree |
| Secondary malignant neoplasm of lung | 0.000271442 | 1 | 0 | BeFree |
| Infections, Parvovirus | 0.000271442 | 1 | 0 | BeFree |
| Adenomyoma | 0.000271442 | 1 | 0 | BeFree |
| Subcapsular cataract | 0.000271442 | 1 | 0 | BeFree |
| Pancreatic carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Renal interstitial fibrosis | 0.000271442 | 1 | 0 | BeFree |
| Sore Throat | 0.000271442 | 1 | 0 | BeFree |
| Gastroschisis | 0.000271442 | 1 | 0 | BeFree |
| Renal glomerular disease | 0.000271442 | 1 | 0 | BeFree |
| Familial Motor Neuron Disease | 0.000271442 | 1 | 0 | BeFree |
| Myelopathic Muscular Atrophy | 0.000271442 | 1 | 0 | BeFree |
| Peripheral demyelinating neuropathy | 0.000271442 | 1 | 0 | BeFree |
| Congenital myopathy (disorder) | 0.000271442 | 1 | 0 | BeFree |
| Cancer of Head and Neck | 0.000271442 | 1 | 0 | BeFree |
| Squamous cell carcinoma of esophagus | 0.000271442 | 1 | 0 | BeFree |
| Depletion of mitochondrial DNA | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of pancreas | 0.000271442 | 1 | 0 | BeFree |
| Hematologic Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Hereditary gingival fibromatosis | 0.000271442 | 1 | 0 | BeFree |
| Neuropathy | 0.000271442 | 1 | 0 | BeFree |
| Respiratory distress | 0.000271442 | 1 | 0 | BeFree |
| Bilateral cataracts (disorder) | 0.000271442 | 1 | 0 | BeFree |
| Thyroid carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Ewings sarcoma | 0.000271442 | 1 | 0 | BeFree |
| Carcinogenesis | 0.000271442 | 1 | 0 | BeFree |
| Congenital muscular dystrophy (disorder) | 0.000271442 | 1 | 0 | BeFree |
| Central neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
| Generalized muscle weakness | 0.000271442 | 1 | 0 | BeFree |
| Proximal weakness | 0.000271442 | 1 | 0 | BeFree |
| Juvenile Neuronal Ceroid Lipofuscinosis | 0.000271442 | 1 | 0 | BeFree |
| Familial Retinoblastoma | 0.000271442 | 1 | 0 | BeFree |
| Infectious disease of lung | 0.000271442 | 1 | 0 | BeFree |
| Progressive Muscular Atrophy | 0.000271442 | 1 | 0 | BeFree |
| Abnormal breathing | 0.000271442 | 1 | 0 | BeFree |
| Enterochromaffin-like cell carcinoid | 0.000271442 | 1 | 0 | BeFree |
| Bulbar weakness | 0.000271442 | 1 | 0 | BeFree |
| Chronic venous insufficiency | 0.000271442 | 1 | 0 | BeFree |
| Hereditary Malignant Neoplasm | 0.000271442 | 1 | 0 | BeFree |
| Differentiating Neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
| Rash and Dermatitis Adverse Event Associated with Chemoradiation | 0.000271442 | 1 | 0 | BeFree |
| Low grade myofibroblastic sarcoma | 0.000271442 | 1 | 0 | BeFree |
| Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant | 0.000271442 | 1 | 0 | BeFree |
| B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations | 0.000271442 | 1 | 0 | BeFree |
| Pontocerebellar Hypoplasia Type 1 | 0.000271442 | 1 | 0 | BeFree |
| Parvovirus B19 (disease) | 0.000271442 | 1 | 0 | BeFree |
| Liver carcinoma | 0.000271442 | 1 | 0 | BeFree |
| MALARIA, RESISTANCE TO | 0.000271442 | 1 | 0 | BeFree |
| Nonalcoholic Steatohepatitis | 0.000271442 | 1 | 0 | BeFree |
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