Details for: SMN1

Gene ID: 6606

Symbol: SMN1

Ensembl ID: ENSG00000172062

Description: survival of motor neuron 1, telomeric

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 63.0042
    Cell Significance Index: -9.8000
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 38.6369
    Cell Significance Index: -9.8000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 8.3620
    Cell Significance Index: -10.3100
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 3.0953
    Cell Significance Index: 19.1500
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 2.9192
    Cell Significance Index: -7.8200
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 2.6533
    Cell Significance Index: -10.4700
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 1.0144
    Cell Significance Index: -2.2200
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.7318
    Cell Significance Index: 7.6400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.6105
    Cell Significance Index: 38.4800
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.6056
    Cell Significance Index: 36.3600
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: 0.6012
    Cell Significance Index: 8.0200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.5817
    Cell Significance Index: 525.2400
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.5149
    Cell Significance Index: 56.0100
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.5110
    Cell Significance Index: 279.0900
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: 0.4076
    Cell Significance Index: 5.7200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.3975
    Cell Significance Index: 64.6600
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 0.3859
    Cell Significance Index: 4.1000
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.3584
    Cell Significance Index: 4.8900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.3582
    Cell Significance Index: 9.7500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.3178
    Cell Significance Index: 16.5100
  • Cell Name: helper T cell (CL0000912)
    Fold Change: 0.2900
    Cell Significance Index: 4.1200
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2738
    Cell Significance Index: 18.9400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1851
    Cell Significance Index: 18.3100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.1826
    Cell Significance Index: 21.2800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1811
    Cell Significance Index: 24.8700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1706
    Cell Significance Index: 32.4600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1361
    Cell Significance Index: 3.9200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1134
    Cell Significance Index: 22.7500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1050
    Cell Significance Index: 4.7600
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.0935
    Cell Significance Index: 0.5600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0859
    Cell Significance Index: 11.0100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0754
    Cell Significance Index: 13.6000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0732
    Cell Significance Index: 3.4400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0661
    Cell Significance Index: 29.2200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0655
    Cell Significance Index: 1.4200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0648
    Cell Significance Index: 23.2500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0623
    Cell Significance Index: 7.6600
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0553
    Cell Significance Index: 1.7700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0507
    Cell Significance Index: 1.7800
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0475
    Cell Significance Index: 2.4000
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.0474
    Cell Significance Index: 1.3600
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0448
    Cell Significance Index: 1.1200
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0400
    Cell Significance Index: 2.8300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.0345
    Cell Significance Index: 9.9300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0344
    Cell Significance Index: 5.8700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0315
    Cell Significance Index: 0.6700
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: 0.0231
    Cell Significance Index: 0.3200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0208
    Cell Significance Index: 0.5800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0176
    Cell Significance Index: 0.8200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0113
    Cell Significance Index: 0.8400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0091
    Cell Significance Index: 1.8100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.0069
    Cell Significance Index: 0.4300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0059
    Cell Significance Index: 0.7600
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.0024
    Cell Significance Index: 0.0500
  • Cell Name: myometrial cell (CL0002366)
    Fold Change: 0.0017
    Cell Significance Index: 0.0200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0010
    Cell Significance Index: 1.8900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0024
    Cell Significance Index: -4.4300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0024
    Cell Significance Index: -3.7100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0037
    Cell Significance Index: -0.1000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0051
    Cell Significance Index: -6.8800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0075
    Cell Significance Index: -5.5500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0086
    Cell Significance Index: -5.4700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0088
    Cell Significance Index: -6.6900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0096
    Cell Significance Index: -7.0100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0129
    Cell Significance Index: -0.8300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0133
    Cell Significance Index: -7.5200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0179
    Cell Significance Index: -8.1400
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0188
    Cell Significance Index: -0.3200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0192
    Cell Significance Index: -2.2700
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0209
    Cell Significance Index: -13.0300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0337
    Cell Significance Index: -3.4400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0367
    Cell Significance Index: -4.2000
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.0377
    Cell Significance Index: -0.3900
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0397
    Cell Significance Index: -1.0200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0398
    Cell Significance Index: -5.7800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0460
    Cell Significance Index: -2.5800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0502
    Cell Significance Index: -10.5700
  • Cell Name: L6 corticothalamic-projecting glutamatergic cortical neuron (CL4023042)
    Fold Change: -0.0752
    Cell Significance Index: -0.8300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0804
    Cell Significance Index: -6.1700
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: -0.0835
    Cell Significance Index: -0.7100
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.0865
    Cell Significance Index: -0.9400
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: -0.0893
    Cell Significance Index: -0.5300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0954
    Cell Significance Index: -9.9300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1006
    Cell Significance Index: -5.2800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.1021
    Cell Significance Index: -2.7400
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1088
    Cell Significance Index: -2.8600
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1116
    Cell Significance Index: -8.8400
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1347
    Cell Significance Index: -4.6800
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.1422
    Cell Significance Index: -1.7000
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.1576
    Cell Significance Index: -1.7900
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1603
    Cell Significance Index: -3.5100
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.1671
    Cell Significance Index: -2.5000
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1750
    Cell Significance Index: -7.7400
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1776
    Cell Significance Index: -6.2200
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: -0.1778
    Cell Significance Index: -1.1800
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.1875
    Cell Significance Index: -3.6600
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1879
    Cell Significance Index: -3.2200
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1934
    Cell Significance Index: -4.9400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.2082
    Cell Significance Index: -7.8900
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2162
    Cell Significance Index: -7.0800

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Location and Structure:** The SMN1 gene is located on chromosome 5q, a telomeric region, and consists of 4 exons that encode a 64-kDa protein, known as Survival Motor Neuron (SMN). 2. **Expression and Regulation:** The SMN1 gene is primarily expressed in motor neurons, with lower levels of expression in non-neuronal cells. The gene is regulated by a complex interplay of transcription factors, including SMN-dependent and SMN-independent pathways. 3. **Protein Function:** The SMN protein plays a crucial role in the assembly and function of small nuclear ribonucleoproteins (snRNPs), which are essential for pre-mRNA splicing and processing. **Pathways and Functions:** 1. **RNA Splicing and Processing:** The SMN protein is involved in the assembly and function of snRNPs, which are essential for pre-mRNA splicing and processing. Mutations in SMN1 disrupt snRNP assembly, leading to aberrant splicing and processing of pre-mRNAs. 2. **Motor Neuron Development and Maintenance:** The SMN protein is required for the development and maintenance of motor neurons, including the regulation of axonal outgrowth, dendritic growth, and synapse formation. 3. **Neurotransmission and Synaptic Function:** The SMN protein is also involved in neurotransmission and synaptic function, including the regulation of glutamate and GABA neurotransmitter release. **Clinical Significance:** 1. **Spinal Muscular Atrophy (SMA):** Mutations in the SMN1 gene are the primary cause of SMA, a devastating neuromuscular disorder characterized by progressive muscle weakness and wasting. SMA is a leading cause of infant mortality and is often fatal. 2. **Other Diseases:** Mutations in SMN1 have also been linked to other diseases, including myotonic dystrophy, Charcot-Marie-Tooth disease, and amyotrophic lateral sclerosis (ALS). 3. **Therapeutic Targets:** The development of SMN1-based therapies, including gene therapy and antisense oligonucleotides, has shown promise in treating SMA and other SMN-related disorders. In conclusion, the SMN1 gene plays a crucial role in motor neuron function and disease, and its dysregulation is associated with a range of devastating neuromuscular disorders. Further research into the pathways and functions of SMN1 is essential for the development of effective therapeutic strategies for SMA and other SMN-related disorders.

Genular Protein ID: 1126912512

Symbol: SMN_HUMAN

Name: Survival motor neuron protein

UniProtKB Accession Codes:

Q16637 A8K0V4 Q13119 Q549U5 Q96J51

Database IDs:

AGR 2 AlphaFoldDB 1 Antibodypedia 2 BMRB 1 Bgee 1 BindingDB 1 BioGRID 2 BioGRID-ORCS 2 BioMuta 1 CCDS 6 CDD 3 CORUM 1 CTD 2 ChEMBL 1 ChiTaRS 2 ComplexPortal 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 2 EMBL 17 Ensembl 21 EvolutionaryTrace 1 ExpressionAtlas 1 GO 20 Gene3D 2 GeneCards 2 GeneReviews 2 GeneTree 1 GeneWiki 2 GlyGen 1 HGNC 2 HOGENOM 1 HPA 2 IDEAL 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 2 MANE-Select 2 MIM 10 MINT 1 MalaCards 2 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 2 Orphanet 4 OrthoDB 1 PANTHER 2 PDB 15 PDBsum 15 PIR 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 4 Pumba 1 RNAct 1 Reactome 2 RefSeq 8 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 2 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7813012

Title: Identification and characterization of a spinal muscular atrophy-determining gene.

PubMed ID: 7813012

DOI: 10.1016/0092-8674(95)90460-3

PubMed ID: 8838816

Title: Structure and organization of the human survival motor neurone (SMN) gene.

PubMed ID: 8838816

DOI: 10.1006/geno.1996.0147

PubMed ID: 9503025

Title: Sequence of a 131-kb region of 5q13.1 containing the spinal muscular atrophy candidate genes SMN and NAIP.

PubMed ID: 9503025

DOI: 10.1006/geno.1997.5141

PubMed ID: 7639755

Title: Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.

PubMed ID: 7639755

DOI: 10.1006/bbrc.1995.2135

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15372022

Title: The DNA sequence and comparative analysis of human chromosome 5.

PubMed ID: 15372022

DOI: 10.1038/nature02919

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 7552146

Title: A provisional transcript map of the spinal muscular atrophy (SMA) critical region.

PubMed ID: 7552146

DOI: 10.1159/000472281

PubMed ID: 7658877

Title: Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy.

PubMed ID: 7658877

DOI: 10.1016/s0140-6736(95)91507-9

PubMed ID: 8551862

Title: SMN gene deletions in adult-onset spinal muscular atrophy.

PubMed ID: 8551862

DOI: 10.1016/s0140-6736(95)92881-2

PubMed ID: 8670859

Title: A novel nuclear structure containing the survival of motor neurons protein.

PubMed ID: 8670859

DOI: 10.1002/j.1460-2075.1996.tb00725.x

PubMed ID: 9259265

Title: The survival motor neuron protein in spinal muscular atrophy.

PubMed ID: 9259265

DOI: 10.1093/hmg/6.8.1205

PubMed ID: 9323129

Title: The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins.

PubMed ID: 9323129

DOI: 10.1016/s0092-8674(00)80367-0

PubMed ID: 9845364

Title: A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing.

PubMed ID: 9845364

DOI: 10.1016/s0092-8674(00)81632-3

PubMed ID: 11574476

Title: SMN interacts with a novel family of hnRNP and spliceosomal proteins.

PubMed ID: 11574476

DOI: 10.1093/emboj/20.19.5443

PubMed ID: 11641277

Title: Coilin forms the bridge between Cajal bodies and SMN, the spinal muscular atrophy protein.

PubMed ID: 11641277

DOI: 10.1101/gad.908401

PubMed ID: 11551898

Title: Osteoclast-stimulating factor interacts with the spinal muscular atrophy gene product to stimulate osteoclast formation.

PubMed ID: 11551898

DOI: 10.1074/jbc.m100233200

PubMed ID: 11283611

Title: Spinal muscular atrophy disrupts the interaction of ZPR1 with the SMN protein.

PubMed ID: 11283611

DOI: 10.1038/35070059

PubMed ID: 12067652

Title: The SMN complex, an assemblyosome of ribonucleoproteins.

PubMed ID: 12067652

DOI: 10.1016/s0955-0674(02)00332-0

PubMed ID: 12095920

Title: SMN, the spinal muscular atrophy protein, forms a pre-import snRNP complex with snurportin1 and importin beta.

PubMed ID: 12095920

DOI: 10.1093/hmg/11.15.1785

PubMed ID: 12065586

Title: Identification and characterization of Gemin7, a novel component of the survival of motor neuron complex.

PubMed ID: 12065586

DOI: 10.1074/jbc.m203478200

PubMed ID: 12975319

Title: Unique Sm core structure of U7 snRNPs: assembly by a specialized SMN complex and the role of a new component, Lsm11, in histone RNA processing.

PubMed ID: 12975319

DOI: 10.1101/gad.274403

PubMed ID: 14715275

Title: Rpp20 interacts with SMN and is re-distributed into SMN granules in response to stress.

PubMed ID: 14715275

DOI: 10.1016/j.bbrc.2003.12.084

PubMed ID: 16087681

Title: Toward an assembly line for U7 snRNPs: interactions of U7-specific Lsm proteins with PRMT5 and SMN complexes.

PubMed ID: 16087681

DOI: 10.1074/jbc.m505077200

PubMed ID: 17081983

Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.

PubMed ID: 17081983

DOI: 10.1016/j.cell.2006.09.026

PubMed ID: 17103222

Title: FRG1P-mediated aggregation of proteins involved in pre-mRNA processing.

PubMed ID: 17103222

DOI: 10.1007/s00412-006-0083-3

PubMed ID: 17487921

Title: Toward a global characterization of the phosphoproteome in prostate cancer cells: identification of phosphoproteins in the LNCaP cell line.

PubMed ID: 17487921

DOI: 10.1002/elps.200600782

PubMed ID: 17178713

Title: A comprehensive interaction map of the human survival of motor neuron (SMN) complex.

PubMed ID: 17178713

DOI: 10.1074/jbc.m608528200

PubMed ID: 18984161

Title: An assembly chaperone collaborates with the SMN complex to generate spliceosomal SnRNPs.

PubMed ID: 18984161

DOI: 10.1016/j.cell.2008.09.020

PubMed ID: 18093976

Title: In vitro and in cellulo evidences for association of the survival of motor neuron complex with the fragile X mental retardation protein.

PubMed ID: 18093976

DOI: 10.1074/jbc.m707304200

PubMed ID: 18691976

Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.

PubMed ID: 18691976

DOI: 10.1016/j.molcel.2008.07.007

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19369195

Title: Large-scale proteomics analysis of the human kinome.

PubMed ID: 19369195

DOI: 10.1074/mcp.m800588-mcp200

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21072240

Title: WRAP53 is essential for Cajal body formation and for targeting the survival of motor neuron complex to Cajal bodies.

PubMed ID: 21072240

DOI: 10.1371/journal.pbio.1000521

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21609790

Title: Identification of the phosphorylation sites in the survival motor neuron protein by protein kinase A.

PubMed ID: 21609790

DOI: 10.1016/j.bbapap.2011.04.015

PubMed ID: 21700224

Title: Human senataxin resolves RNA/DNA hybrids formed at transcriptional pause sites to promote Xrn2-dependent termination.

PubMed ID: 21700224

DOI: 10.1016/j.molcel.2011.04.026

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 23063131

Title: An SMN-dependent U12 splicing event essential for motor circuit function.

PubMed ID: 23063131

DOI: 10.1016/j.cell.2012.09.012

PubMed ID: 22223895

Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.

PubMed ID: 22223895

DOI: 10.1074/mcp.m111.015131

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 26092730

Title: Oligomeric Properties of Survival Motor Neuron.Gemin2 Complexes.

PubMed ID: 26092730

DOI: 10.1074/jbc.m115.667279

PubMed ID: 25737013

Title: PRMT9 is a type II methyltransferase that methylates the splicing factor SAP145.

PubMed ID: 25737013

DOI: 10.1038/ncomms7428

PubMed ID: 26700805

Title: SMN and symmetric arginine dimethylation of RNA polymerase II C-terminal domain control termination.

PubMed ID: 26700805

DOI: 10.1038/nature16469

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

PubMed ID: 11135666

Title: SMN tudor domain structure and its interaction with the Sm proteins.

PubMed ID: 11135666

DOI: 10.1038/83014

PubMed ID: 12628254

Title: High-resolution X-ray and NMR structures of the SMN Tudor domain: conformational variation in the binding site for symmetrically dimethylated arginine residues.

PubMed ID: 12628254

DOI: 10.1016/s0022-2836(03)00148-7

PubMed ID: 21816274

Title: Structure of a key intermediate of the SMN complex reveals Gemin2's crucial function in snRNP assembly.

PubMed ID: 21816274

DOI: 10.1016/j.cell.2011.06.043

PubMed ID: 22101937

Title: Structural basis for dimethylarginine recognition by the Tudor domains of human SMN and SPF30 proteins.

PubMed ID: 22101937

DOI: 10.1038/nsmb.2185

PubMed ID: 23022347

Title: The survival motor neuron protein forms soluble glycine zipper oligomers.

PubMed ID: 23022347

DOI: 10.1016/j.str.2012.08.024

PubMed ID: 22607171

Title: Solution structure of the core SMN-Gemin2 complex.

PubMed ID: 22607171

DOI: 10.1042/bj20120241

PubMed ID: 31799625

Title: Negative cooperativity between Gemin2 and RNA provides insights into RNA selection and the SMN complex's release in snRNP assembly.

PubMed ID: 31799625

DOI: 10.1093/nar/gkz1135

PubMed ID: 9147655

Title: Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism?

PubMed ID: 9147655

DOI: 10.1093/hmg/6.3.497

PubMed ID: 9158159

Title: Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA).

PubMed ID: 9158159

DOI: 10.1093/hmg/6.5.821

PubMed ID: 10732817

Title: Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7.

PubMed ID: 10732817

DOI: 10.1007/s100480050021

PubMed ID: 9837824

Title: Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.

PubMed ID: 9837824

DOI: 10.1086/302160

PubMed ID: 10732802

Title: Identification of a novel missense mutation of the smnt gene in two siblings with spinal muscular atrophy.

PubMed ID: 10732802

DOI: 10.1007/s100480050040

PubMed ID: 10500148

Title: SMN mutants of spinal muscular atrophy patients are defective in binding to snRNP proteins.

PubMed ID: 10500148

DOI: 10.1073/pnas.96.20.11167

PubMed ID: 15249625

Title: Detection of novel mutations in the SMN Tudor domain in type I SMA patients.

PubMed ID: 15249625

DOI: 10.1212/01.wnl.0000132634.48815.13

PubMed ID: 15580564

Title: Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy.

PubMed ID: 15580564

DOI: 10.1002/humu.20111

PubMed ID: 21088113

Title: HuD interacts with survival motor neuron protein and can rescue spinal muscular atrophy-like neuronal defects.

PubMed ID: 21088113

DOI: 10.1093/hmg/ddq500

PubMed ID: 21389246

Title: The survival of motor neuron (SMN) protein interacts with the mRNA-binding protein HuD and regulates localization of poly(A) mRNA in primary motor neuron axons.

PubMed ID: 21389246

DOI: 10.1523/jneurosci.3631-10.2011

PubMed ID: 29061699

Title: HuD and the Survival Motor Neuron Protein Interact in Motoneurons and Are Essential for Motoneuron Development, Function, and mRNA Regulation.

PubMed ID: 29061699

DOI: 10.1523/jneurosci.1528-17.2017

PubMed ID: 33754639

Title: Identification and structural analysis of the Schizosaccharomyces pombe SMN complex.

PubMed ID: 33754639

DOI: 10.1093/nar/gkab158

Sequence Information:

  • Length: 294
  • Mass: 31849
  • Checksum: 8A9A2A94192DCB9B
  • Sequence:
    • MAMSSGGSGG GVPEQEDSVL FRRGTGQSDD SDIWDDTALI KAYDKAVASF KHALKNGDIC 
ETSGKPKTTP KRKPAKKNKS QKKNTAASLQ QWKVGDKCSA IWSEDGCIYP ATIASIDFKR 
ETCVVVYTGY GNREEQNLSD LLSPICEVAN NIEQNAQENE NESQVSTDES ENSRSPGNKS 
DNIKPKSAPW NSFLPPPPPM PGPRLGPGKP GLKFNGPPPP PPPPPPHLLS CWLPPFPSGP 
PIIPPPPPIC PDSLDDADAL GSMLISWYMS GYHTGYYMGF RQNQKEGRCS HSLN

Genular Protein ID: 4104590601

Symbol: B4DP61_HUMAN

Name: N/A

UniProtKB Accession Codes:

B4DP61

Database IDs:

ARBA 4 Antibodypedia 2 Bgee 1 BioGRID-ORCS 2 CDD 2 CTD 2 ChiTaRS 1 DNASU 1 DisGeNET 2 DrugBank 1 EMBL 5 Ensembl 7 GO 3 Gene3D 1 GeneTree 1 HGNC 2 IntAct 1 InterPro 3 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 Pfam 3 Proteomes 2 ProteomicsDB 2 RefSeq 2 SAM 1 UCSC 1 VEuPathDB 2

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15372022

Title: The DNA sequence and comparative analysis of human chromosome 5.

PubMed ID: 15372022

DOI: 10.1038/nature02919

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 17081983

Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.

PubMed ID: 17081983

DOI: 10.1016/j.cell.2006.09.026

PubMed ID: 17487921

Title: Toward a global characterization of the phosphoproteome in prostate cancer cells: identification of phosphoproteins in the LNCaP cell line.

PubMed ID: 17487921

DOI: 10.1002/elps.200600782

PubMed ID: 18691976

Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.

PubMed ID: 18691976

DOI: 10.1016/j.molcel.2008.07.007

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19369195

Title: Large-scale proteomics analysis of the human kinome.

PubMed ID: 19369195

DOI: 10.1074/mcp.M800588-MCP200

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 22223895

Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.

PubMed ID: 22223895

DOI: 10.1074/mcp.M111.015131

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

Sequence Information:

  • Length: 227
  • Mass: 24380
  • Checksum: 9A691ACABF5DA2AC
  • Sequence:
    • MAMSSGGSGG GVPEQEDSVL FRRGTGQSDD SDIWDDTALI KAYDKAVASF KHALKNGDIC 
ETSGKPKTTP KRKPAKKNKS QKKNTAASLQ QNENESQVST DESENSRSPG NKSDNIKPKS 
APWNSFLPPP PPMPGPRLGP GKPGLKFNGP PPPPPPPPPH LLSCWLPPFP SGPPIIPPPP 
PICPDSLDDA DALGSMLISW YMSGYHTGYY MGFRQNQKEG RCSHSLN

Genular Protein ID: 959530976

Symbol: E7EQZ4_HUMAN

Name: N/A

UniProtKB Accession Codes:

E7EQZ4

Database IDs:

ARBA 13 Antibodypedia 2 Bgee 1 BioGRID-ORCS 2 CDD 3 CTD 2 ChiTaRS 1 DNASU 1 DisGeNET 2 EMBL 3 Ensembl 11 GO 11 Gene3D 2 GeneTree 1 HGNC 2 IntAct 1 InterPro 6 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 2 PeptideAtlas 1 Pfam 3 Proteomes 2 ProteomicsDB 2 RefSeq 2 SAM 1 SMART 1 SUPFAM 1 UCSC 1 VEuPathDB 2

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15372022

Title: The DNA sequence and comparative analysis of human chromosome 5.

PubMed ID: 15372022

DOI: 10.1038/nature02919

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 17081983

Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.

PubMed ID: 17081983

DOI: 10.1016/j.cell.2006.09.026

PubMed ID: 17487921

Title: Toward a global characterization of the phosphoproteome in prostate cancer cells: identification of phosphoproteins in the LNCaP cell line.

PubMed ID: 17487921

DOI: 10.1002/elps.200600782

PubMed ID: 18691976

Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.

PubMed ID: 18691976

DOI: 10.1016/j.molcel.2008.07.007

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19369195

Title: Large-scale proteomics analysis of the human kinome.

PubMed ID: 19369195

DOI: 10.1074/mcp.M800588-MCP200

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 22223895

Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.

PubMed ID: 22223895

DOI: 10.1074/mcp.M111.015131

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

Sequence Information:

  • Length: 294
  • Mass: 31690
  • Checksum: ED66C6D7AEF802BB
  • Sequence:
    • MAMSSGGSGG GVPEQEDSVL FRRGTGQSDD SDIWDDTALI KAYDKAVASF KHALKNGDIC 
ETSGKPKTTP KRKPAKKNKS QKKNTAASLQ QWKVGDKCSA IWSEDGCIYP ATIASIDFKR 
ETCVVVYTGY GNREEQNLSD LLSPICEVAN NIEQNAQENE NESQVSTDES ENSRSPGNKS 
DNIKPKSAPW NSFLPPPPPM PGPRLGPGKP GLKFNGPPPP PPPPPPHLLS CWLPPFPSGP 
PIIPPPPPIC PDSLDDADAL GSMLISWYMS GYHTGYYMTG FHCVSQDGLN LLTP

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.