SMN1
ENSG00000172062
Target class
Epigenetic regulator
Chromosome
5
Approved drugs
1
Clinical candidates (approved and in development)
1
- Approved drugs
- 1
- Clinical candidates (approved and in development)
- 1
- Chemical probe available
- Yes
- Target name
- SMN1
- Gene name
- Survival of motor neuron 1, telomeric
- Gene symbol
- SMN1
- Protein name
- Survival motor neuron protein (Component of gems 1) (Gemin-1)
- BCD541
- SMNT
- SMA1
- SMA2
- SMA3
- GEMIN1
- TDRD16A
- SMA
- Gene biotype
- Protein coding
- Gene family
- Tudor domain containing|SMN complex|Proteins encoded by multiple genes
- Target class
- Epigenetic regulator
- Target type
- Human gene
- Tissues expressed in
- 53
- Protein localisation evidence grade
- Supported
- Highest tissue expression
- 8.25
- Tissue specificity (Gini)
- 0.244
- Tissue specificity (tau)
- 0.517
- Protein interaction confidence
- 0.87316
- Protein interaction partners
- 50
- hsa:6606
- hsa:6607
- R-HSA-191859
- R-HSA-9754678
- End position
- 70953942
- Start position
- 70925030
- Chromosome
- 5
- Strand
- Forward
- Nucleus, gem . Nucleus, Cajal body . Cytoplasm . Cytoplasmic granule . Perikaryon . Cell projection, neuron projection . Cell projection, axon . 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). .
- Cytosol
- Nuclear bodies
- PubMed 11283611
- PubMed 8670859
- PubMed 12067652
- PubMed 21072240
- PubMed 14715275
- PubMed 18093976
- Tissue specificity (tau)
- 0.517439
- Expression inequality (Gini)
- 0.244496
Expression in transcripts per million
- Ovary
- 8.25
- Cells - EBV-transformed lymphocytes
- 7.77
- Cervix - Ectocervix
- 7.7
- Cervix - Endocervix
- 7.57
- Uterus
- 6.82
Expression in transcripts per million
- Ovary8.25
- Cells - EBV-transformed lymphocytes7.77
- Cervix - Ectocervix7.7
- Cervix - Endocervix7.57
- Uterus6.82
- Fallopian Tube6.52
- Nerve - Tibial6.44
- Testis5.98
- Thyroid5.61
- Vagina5.59
- Cells - Cultured fibroblasts5.55
- Brain - Cerebellar Hemisphere5.49
- Pituitary5.46
- Prostate5.21
- Artery - Tibial4.99
- Bladder4.98
- Breast - Mammary Tissue4.86
- Adipose - Visceral (Omentum)4.75
- Colon - Sigmoid4.61
- Adipose - Subcutaneous4.58
- Lung4.55
- Artery - Coronary4.39
- Artery - Aorta4.3
- Skin - Not Sun Exposed (Suprapubic)4.24
- Brain - Cerebellum4.12
And 29 more, listed on the interactive page.
- GO:0000245
- GO:0000387
- GO:0006353
- GO:0005634
- GO:0005654
- GO:0005737
- GO:0005829
- GO:0015030
- GO:0016604
- GO:0032797
- GO:0034719
- GO:0036464
- GO:0043005
- GO:0043204
- GO:0097504
- GO:0005515
- GO:0042802
Related records
Trials (111)
- A Clinical Study of SHR-9839 as Monotherapy or in Combination With Chemotherapy Plus Adebrelimab Versus Chemotherapy Plus Adebrelimab in Patients With Advanced Esophageal Squamous Cell Carcinoma
- A Clinical Trial to Evaluate Efficacy and Safety of Two Different Formulations of Topical Calcipotriol in Patients With Mild to Moderate Plaque Psoriasis
- A Clinical Trial to Evaluate the Safety, Tolerability, and Pharmacokinetics of PGDM1400LS Alone and in Combination With VRC07-523LS and PGT121.414.LS in Healthy, HIV-uninfected Adult Participants
- A IB/II Phase Clinical Study on the Safety, Tolerability, and Efficacy of SHR-9839(sc) in Combination Anti-tumor Therapy in Patients With Solid Tumors
- A Long Term Roll-over Study to Investigate the Efficacy and Safety of Adalimumab Given Long-term to Patients With Rheumatoid Arthritis
- A Master Protocol (IIBD): A Study of Multiple Drugs in Adults With Ulcerative Colitis or Crohn's Disease
- A Phase I Clinical Study of ART101 Injection in Healthy Adult Subjects
- A Phase IB/II Clinical Study of SHR-9839 for Injection Combined With Other Anti-tumor Therapies in Patients With Advanced Solid Tumors
- A Phase II Clinical Study of HRS-7058 in Combination With Antitumor Drugs in Patients With Advanced Malignant Tumour
- A Phase II Randomized Study Comparing the Efficacy and Safety of Targeted Therapy or Cancer Immunotherapy Versus Platinum-Based Chemotherapy in Patients With Cancer of Unknown Primary Site
- A Phase III Study in Subjects With Mild to Moderate Psoriasis.
- A Pilot Study of Boceprevir for the Treatment of Genotype 6 HCV
- A Prospective Randomized Double-Blinded Placebo Controlled, Explorative Phase I Trial to Investigate the Safety and Tolerability of Two Different Doses of Topically Administered APOSEC™ in Healthy Male Subjects With Artificial Dermal Wounds
- A Psoriasis Plaque Test Study With LEO 90100 Cutaneous Spray, Ointment, in Psoriasis Vulgaris
- A Single Dose Pharmacokinetics (PK) Study of GSK2434735 in Healthy Male Volunteers
- A Study of BGM0504 Injection in Participants with Obesity or Overweight
- A Study of Daratumumab With the Addition of Recombinant Human Hyaluronidase (rHuPH20) for the Treatment of Participants With Relapsed or Refractory Multiple Myeloma
- A Study of Efficacy and Safety of Combination Therapy With Guselkumab and Golimumab in Participants With Moderately to Severely Active Ulcerative Colitis
- A Study of Guselkumab in Participants With Active Lupus Nephritis
- A Study of Guselkumab in Participants With Systemic Sclerosis
Drugs (1)
- Onasemnogene abeparvovec Survival motor neuron protein exogenous gene