Details for: TPM3

Gene ID: 7170

Symbol: TPM3

Ensembl ID: ENSG00000143549

Description: tropomyosin 3

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: 569.2235
    Cell Significance Index: -88.5400
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 292.9704
    Cell Significance Index: -74.3100
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 260.8099
    Cell Significance Index: -107.4400
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 241.4727
    Cell Significance Index: -98.1000
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 221.3620
    Cell Significance Index: -104.5100
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 208.7929
    Cell Significance Index: -107.4000
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 155.4345
    Cell Significance Index: -104.3000
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 104.8659
    Cell Significance Index: -100.1200
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 79.2324
    Cell Significance Index: -97.6900
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 25.7295
    Cell Significance Index: -101.5300
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 25.7240
    Cell Significance Index: -79.0100
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 21.7720
    Cell Significance Index: -47.6500
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 19.0865
    Cell Significance Index: -51.1300
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 10.7351
    Cell Significance Index: 261.9300
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 8.2421
    Cell Significance Index: 152.3400
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 4.9617
    Cell Significance Index: 145.7200
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 4.3696
    Cell Significance Index: 112.3200
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 3.7965
    Cell Significance Index: 43.1300
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 3.5834
    Cell Significance Index: 231.1800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 3.5125
    Cell Significance Index: 382.0600
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 3.1488
    Cell Significance Index: 371.3400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 3.0250
    Cell Significance Index: 371.9500
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 2.6506
    Cell Significance Index: 46.8400
  • Cell Name: peg cell (CL4033014)
    Fold Change: 2.5853
    Cell Significance Index: 59.7300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 2.5768
    Cell Significance Index: 464.5100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 2.5299
    Cell Significance Index: 118.9100
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 2.2275
    Cell Significance Index: 1216.5000
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 2.0106
    Cell Significance Index: 18.5200
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.8378
    Cell Significance Index: 52.9500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.7337
    Cell Significance Index: 37.5600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.7155
    Cell Significance Index: 46.7000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.7113
    Cell Significance Index: 343.2800
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 1.5487
    Cell Significance Index: 80.6700
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: 1.3562
    Cell Significance Index: 9.7400
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.3153
    Cell Significance Index: 34.5900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 1.2815
    Cell Significance Index: 566.5700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.1847
    Cell Significance Index: 235.1000
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.1656
    Cell Significance Index: 86.8700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.0469
    Cell Significance Index: 27.9600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.0184
    Cell Significance Index: 139.8600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.8790
    Cell Significance Index: 39.8400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.8033
    Cell Significance Index: 41.7300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.7868
    Cell Significance Index: 101.6500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.6608
    Cell Significance Index: 237.0200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5516
    Cell Significance Index: 54.5700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.5287
    Cell Significance Index: 24.6500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.4336
    Cell Significance Index: 391.5200
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.3762
    Cell Significance Index: 48.2300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.3566
    Cell Significance Index: 12.5300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.3114
    Cell Significance Index: 16.3500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2432
    Cell Significance Index: 46.2800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.2234
    Cell Significance Index: 15.8000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.2047
    Cell Significance Index: 34.9600
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.2020
    Cell Significance Index: 7.0200
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: 0.2003
    Cell Significance Index: 1.2100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1641
    Cell Significance Index: 113.4900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0090
    Cell Significance Index: 6.8200
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.0067
    Cell Significance Index: 0.1400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0061
    Cell Significance Index: 2.7800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0136
    Cell Significance Index: -10.0500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0333
    Cell Significance Index: -3.4000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0334
    Cell Significance Index: -62.8900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0496
    Cell Significance Index: -36.3700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0527
    Cell Significance Index: -97.1000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0632
    Cell Significance Index: -39.4500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0632
    Cell Significance Index: -97.3100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0705
    Cell Significance Index: -95.8700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.1271
    Cell Significance Index: -71.6700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.1291
    Cell Significance Index: -81.9700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.2271
    Cell Significance Index: -47.8300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.2884
    Cell Significance Index: -82.9800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.3137
    Cell Significance Index: -35.9400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.3355
    Cell Significance Index: -20.6200
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.3500
    Cell Significance Index: -39.9500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.3670
    Cell Significance Index: -28.1600
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.4311
    Cell Significance Index: -6.4600
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: -0.4869
    Cell Significance Index: -3.2300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.5058
    Cell Significance Index: -58.9500
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.5617
    Cell Significance Index: -14.3500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.5993
    Cell Significance Index: -87.1100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.7286
    Cell Significance Index: -48.9900
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.7959
    Cell Significance Index: -13.3200
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.8983
    Cell Significance Index: -25.7500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.9162
    Cell Significance Index: -25.6100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.9327
    Cell Significance Index: -52.3400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.9490
    Cell Significance Index: -98.8100
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.9749
    Cell Significance Index: -31.2300
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.9874
    Cell Significance Index: -62.2300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -1.0962
    Cell Significance Index: -86.8200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -1.1105
    Cell Significance Index: -49.1200
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -1.1111
    Cell Significance Index: -15.1600
  • Cell Name: oral mucosa squamous cell (CL1001576)
    Fold Change: -1.2173
    Cell Significance Index: -10.4600
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -1.3626
    Cell Significance Index: -36.4500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -1.4662
    Cell Significance Index: -55.5200
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -1.6310
    Cell Significance Index: -27.9500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -1.6968
    Cell Significance Index: -104.0300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -1.9502
    Cell Significance Index: -48.7500
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -2.1924
    Cell Significance Index: -42.7900
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -2.3439
    Cell Significance Index: -76.7400
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -2.3439
    Cell Significance Index: -82.1100

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:** TPM3 is a member of the tropomyosin family, which is a class of proteins that bind to actin filaments and regulate their dynamics. TPM3 is specifically expressed in mature gamma-delta T cells, CD14-positive classical monocytes, and other immune cells, suggesting its importance in immune cell function and development. Its expression is also found in smooth muscle cells, indicating its role in muscle contraction and relaxation. **Pathways and Functions:** TPM3 is involved in several key signaling pathways, including: 1. **Actin filament organization:** TPM3 regulates the organization and dynamics of actin filaments, which is essential for cell shape, motility, and division. 2. **Muscle contraction:** TPM3 is a key component of the actin filament tropomyosin complex, which regulates muscle contraction and relaxation. 3. **Signal transduction:** TPM3 interacts with various signaling molecules, including Rho GTPases, to regulate signal transduction pathways. 4. **Cytoskeleton remodeling:** TPM3 regulates the remodeling of the cytoskeleton in response to changes in the cell environment. **Clinical Significance:** The dysregulation of TPM3 has been implicated in various diseases, including: 1. **Immunodeficiency:** TPM3 mutations have been associated with immunodeficiency disorders, such as gamma-delta T cell deficiency. 2. **Cancer:** TPM3 is overexpressed in certain types of cancer, including breast and lung cancer, suggesting its role in tumor progression and metastasis. 3. **Muscular dystrophy:** TPM3 mutations have been associated with muscular dystrophy, a group of genetic disorders characterized by progressive muscle weakness and degeneration. In conclusion, TPM3 is a critical component of the actin cytoskeleton, playing a vital role in immune cell signaling and regulation of actin filament dynamics. Its dysregulation has been implicated in various diseases, highlighting the need for further research into the mechanisms underlying TPM3 function and its role in human disease. **Potential Research Directions:** 1. **Investigating TPM3 function in immune cell signaling:** Further studies are needed to elucidate the specific mechanisms by which TPM3 regulates immune cell signaling and function. 2. **Exploring the role of TPM3 in cancer:** TPM3 overexpression has been observed in certain types of cancer; further research is needed to understand its role in tumor progression and metastasis. 3. **Developing TPM3-based therapeutic strategies:** TPM3-targeted therapies may offer new avenues for treating diseases associated with TPM3 dysregulation. By continuing to explore the functions and mechanisms of TPM3, we can gain a deeper understanding of its role in immune cell signaling and regulation of actin filament dynamics, ultimately leading to the development of novel therapeutic strategies for various diseases.

Genular Protein ID: 3540285006

Symbol: TPM3_HUMAN

Name: Tropomyosin alpha-3 chain

UniProtKB Accession Codes:

P06753 D3DV71 P12324 Q2QD06 Q5VU58 Q5VU63 Q5VU66 Q5VU71 Q5VU72 Q8TCG3 Q969Q2 Q9NQH8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 7 CTD 1 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EMBL 16 Ensembl 8 ExpressionAtlas 1 GO 10 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 6 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 6 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PIR 2 PRINTS 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 7 Pumba 1 RNAct 1 Reactome 4 RefSeq 7 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 3018581

Title: Tissue-specific expression of the human tropomyosin gene involved in the generation of the trk oncogene.

PubMed ID: 3018581

DOI: 10.1038/322648a0

PubMed ID: 3024106

Title: The mRNA and RNA-copy pseudogenes encoding TM30nm, a human cytoskeletal tropomyosin.

PubMed ID: 3024106

DOI: 10.1093/nar/14.21.8413

PubMed ID: 3418707

Title: Organization of the hTMnm gene. Implications for the evolution of muscle and non-muscle tropomyosins.

PubMed ID: 3418707

DOI: 10.1016/0022-2836(88)90633-x

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

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: 16201836

Title: Emergence of young human genes after a burst of retroposition in primates.

PubMed ID: 16201836

DOI: 10.1371/journal.pbio.0030357

PubMed ID: 2869410

Title: A human oncogene formed by the fusion of truncated tropomyosin and protein tyrosine kinase sequences.

PubMed ID: 2869410

DOI: 10.1038/319743a0

PubMed ID: 1286667

Title: Microsequences of 145 proteins recorded in the two-dimensional gel protein database of normal human epidermal keratinocytes.

PubMed ID: 1286667

DOI: 10.1002/elps.11501301199

PubMed ID: 12574106

Title: Altered tropomyosin expression in essential hypertension.

PubMed ID: 12574106

DOI: 10.1161/01.hyp.0000050646.79785.7c

PubMed ID: 8002995

Title: Erythrocyte tropomodulin binds to the N-terminus of hTM5, a tropomyosin isoform encoded by the gamma-tropomyosin gene.

PubMed ID: 8002995

DOI: 10.1006/bbrc.1994.1747

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

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: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 35510366

Title: Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala).

PubMed ID: 35510366

DOI: 10.1002/humu.24397

PubMed ID: 7704029

Title: A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy.

PubMed ID: 7704029

DOI: 10.1038/ng0195-75

PubMed ID: 7663526

Title:

PubMed ID: 7663526

DOI: 10.1038/ng0695-249

PubMed ID: 10587521

Title: A nemaline myopathy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production.

PubMed ID: 10587521

DOI: 10.1172/jci7842

PubMed ID: 17376686

Title: A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study.

PubMed ID: 17376686

DOI: 10.1016/j.nmd.2007.01.017

PubMed ID: 18300303

Title: Mutations in TPM3 are a common cause of congenital fiber type disproportion.

PubMed ID: 18300303

DOI: 10.1002/ana.21308

PubMed ID: 18382475

Title: Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin.

PubMed ID: 18382475

DOI: 10.1038/ejhg.2008.60

PubMed ID: 19487656

Title: TPM3 mutation in one of the original cases of cap disease.

PubMed ID: 19487656

DOI: 10.1212/wnl.0b013e3181a82659

PubMed ID: 19553118

Title: A TPM3 mutation causing cap myopathy.

PubMed ID: 19553118

DOI: 10.1016/j.nmd.2009.06.365

PubMed ID: 19953533

Title: Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.

PubMed ID: 19953533

DOI: 10.1002/humu.21157

PubMed ID: 20951040

Title: Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia.

PubMed ID: 20951040

DOI: 10.1016/j.nmd.2010.07.274

PubMed ID: 24692096

Title: Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.

PubMed ID: 24692096

DOI: 10.1002/humu.22554

PubMed ID: 24239060

Title: Novel TPM3 mutation in a family with cap myopathy and review of the literature.

PubMed ID: 24239060

DOI: 10.1016/j.nmd.2013.10.002

Sequence Information:

  • Length: 285
  • Mass: 32950
  • Checksum: 99EAD24C45460A14
  • Sequence:
    • MMEAIKKKMQ MLKLDKENAL DRAEQAEAEQ KQAEERSKQL EDELAAMQKK LKGTEDELDK 
YSEALKDAQE KLELAEKKAA DAEAEVASLN RRIQLVEEEL DRAQERLATA LQKLEEAEKA 
ADESERGMKV IENRALKDEE KMELQEIQLK EAKHIAEEAD RKYEEVARKL VIIEGDLERT 
EERAELAESK CSELEEELKN VTNNLKSLEA QAEKYSQKED KYEEEIKILT DKLKEAETRA 
EFAERSVAKL EKTIDDLEDE LYAQKLKYKA ISEELDHALN DMTSI

Genular Protein ID: 2590678553

Symbol: A0A0S2Z4G4_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A0S2Z4G4

Database IDs:

ARBA 5 AlphaFoldDB 1 Antibodypedia 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 ExpressionAtlas 1 GO 6 Gene3D 2 IntAct 1 InterPro 2 MINT 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 1 PROSITE 1 Pfam 1 RefSeq 1 RuleBase 1 SAM 1 SMR 1 SUPFAM 1 VEuPathDB 1

Citations:

PubMed ID: 26871637

Title: Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.

PubMed ID: 26871637

DOI: 10.1016/j.cell.2016.01.029

Sequence Information:

  • Length: 248
  • Mass: 29033
  • Checksum: 5C049312A337BC19
  • Sequence:
    • MAGITTIEAV KRKIQVLQQQ ADDAEERAER LQREVEGERR AREQAEAEVA SLNRRIQLVE 
EELDRAQERL ATALQKLEEA EKAADESERG MKVIENRALK DEEKMELQEI QLKEAKHIAE 
EADRKYEEVA RKLVIIEGDL ERTEERAELA ESRCREMDEQ IRLMDQNLKC LSAAEEKYSQ 
KEDKYEEEIK ILTDKLKEAE TRAEFAERSV AKLEKTIDDL EDKLKCTKEE HLCTQRMLDQ 
TLLDLNEM

Genular Protein ID: 133058018

Symbol: B4DQ80_HUMAN

Name: N/A

UniProtKB Accession Codes:

B4DQ80

Database IDs:

ARBA 5 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 GO 4 Gene3D 2 InterPro 2 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 1 PROSITE 1 PeptideAtlas 1 Pfam 1 RefSeq 1 RuleBase 1 SAM 2 SMR 1 SUPFAM 1

Sequence Information:

  • Length: 182
  • Mass: 21353
  • Checksum: DC4A3CC3AA4CFACE
  • Sequence:
    • MMQRSELSAS SEKLREKGGP GNRGMKVIEN RALKDEEKME LQEIQLKEAK HIAEEADRKY 
EEVARKLVII EGDLERTEER AELAESRCRE MDEQIRLMDQ NLKCLSAAEE KYSQKEDKYE 
EEIKILTDKL KEAETRAEFA ERSVAKLEKT IDDLEDKLKC TKEEHLCTQR MLDQTLLDLN 
EM

Genular Protein ID: 1745152825

Symbol: A0A0S2Z4I4_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A0S2Z4I4

Database IDs:

ARBA 5 AlphaFoldDB 1 Antibodypedia 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 ExpressionAtlas 1 GO 4 Gene3D 2 InterPro 2 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 1 PROSITE 1 Pfam 1 RefSeq 1 RuleBase 1 SAM 1 SMR 1 SUPFAM 1 VEuPathDB 1

Citations:

PubMed ID: 26871637

Title: Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.

PubMed ID: 26871637

DOI: 10.1016/j.cell.2016.01.029

Sequence Information:

  • Length: 248
  • Mass: 28870
  • Checksum: 179E2D62BC8993F5
  • Sequence:
    • MAGITTIEAV KRKIQVLQQQ ADDAEERAER LQREVEGERR AREQAEAEVA SLNRRIQLVE 
EELDRAQERL ATALQKLEEA EKAADESERG MKVIENRALK DEEKMELQEI QLKEAKHIAE 
EADRKYEEVA RKLVIIEGDL ERTEERAELA ESKCSELEEE LKNVTNNLKS LEAQAEKYSQ 
KEDKYEEEIK ILTDKLKEAE TRAEFAERSV AKLEKTIDDL EDKLKCTKEE HLCTQRMLDQ 
TLLDLNEM

Genular Protein ID: 2632101398

Symbol: A0A087WWU8_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A087WWU8

Database IDs:

ARBA 4 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 1 Ensembl 2 ExpressionAtlas 1 GO 2 Gene3D 1 GeneTree 1 HGNC 1 IntAct 1 InterPro 1 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 1 PeptideAtlas 1 Pfam 1 Proteomes 2 ProteomicsDB 1 RefSeq 1 SAM 1 SMR 1 SUPFAM 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

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: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

Sequence Information:

  • Length: 227
  • Mass: 26421
  • Checksum: 0DE260B63E0F1E4D
  • Sequence:
    • MAGITTIEAV KRKIQVLQQQ ADDAEERAER LQREVEGERR AREQAEAEVA SLNRRIQLVE 
EELDRAQERL ATALQKLEEA EKAADESERG MKVIENRALK DEEKMELQEI QLKEAKHIAE 
EADRKYEEVA RKLVIIEGDL ERTEERAELA ESRCREMDEQ IRLMDQNLKC LSAAEEKAET 
RAEFAERSVA KLEKTIDDLE DKLKCTKEEH LCTQRMLDQT LLDLNEM

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.