Associated with
Cells (max top 100)
(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)
- Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
Fold Change: 3.83
Marker Score: 3267 - Cell Name: skeletal muscle satellite stem cell (CL0008011)
Fold Change: 3.67
Marker Score: 3923 - Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: 3.55
Marker Score: 8661 - Cell Name: foveolar cell of stomach (CL0002179)
Fold Change: 3.49
Marker Score: 22281 - Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: 3.35
Marker Score: 12902 - Cell Name: basophil (CL0000767)
Fold Change: 3.3
Marker Score: 1566 - Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: 3.29
Marker Score: 111850 - Cell Name: alveolar capillary type 2 endothelial cell (CL4028003)
Fold Change: 3.11
Marker Score: 4506.5 - Cell Name: vascular lymphangioblast (CL0005022)
Fold Change: 3.08
Marker Score: 5215 - Cell Name: fibroblast of lung (CL0002553)
Fold Change: 2.99
Marker Score: 7825 - Cell Name: uterine smooth muscle cell (CL0002601)
Fold Change: 2.95
Marker Score: 3841 - Cell Name: epithelial cell of urethra (CL1000296)
Fold Change: 2.94
Marker Score: 2313 - Cell Name: epithelial cell of lung (CL0000082)
Fold Change: 2.87
Marker Score: 15087 - Cell Name: IgA plasma cell (CL0000987)
Fold Change: 2.84
Marker Score: 2422 - Cell Name: epithelial cell (CL0000066)
Fold Change: 2.83
Marker Score: 4502 - Cell Name: taste receptor cell (CL0000209)
Fold Change: 2.83
Marker Score: 2445 - Cell Name: type I pneumocyte (CL0002062)
Fold Change: 2.83
Marker Score: 3407 - Cell Name: mucous neck cell (CL0000651)
Fold Change: 2.81
Marker Score: 6381 - Cell Name: supporting cell (CL0000630)
Fold Change: 2.81
Marker Score: 5274 - Cell Name: kidney interstitial cell (CL1000500)
Fold Change: 2.76
Marker Score: 1963 - Cell Name: lung macrophage (CL1001603)
Fold Change: 2.76
Marker Score: 3154 - Cell Name: medullary thymic epithelial cell (CL0002365)
Fold Change: 2.75
Marker Score: 4517 - Cell Name: colon epithelial cell (CL0011108)
Fold Change: 2.73
Marker Score: 8575 - Cell Name: endothelial cell of uterus (CL0009095)
Fold Change: 2.73
Marker Score: 5451 - Cell Name: smooth muscle cell of large intestine (CL1000279)
Fold Change: 2.7
Marker Score: 1022 - Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
Fold Change: 2.7
Marker Score: 1123 - Cell Name: inflammatory cell (CL0009002)
Fold Change: 2.7
Marker Score: 1160 - Cell Name: bronchus fibroblast of lung (CL2000093)
Fold Change: 2.69
Marker Score: 3703 - Cell Name: smooth muscle cell (CL0000192)
Fold Change: 2.68
Marker Score: 1764 - Cell Name: stratified epithelial cell (CL0000079)
Fold Change: 2.67
Marker Score: 20846 - Cell Name: decidual cell (CL2000002)
Fold Change: 2.66
Marker Score: 11470 - Cell Name: basal cell (CL0000646)
Fold Change: 2.65
Marker Score: 3422 - Cell Name: alveolar capillary type 1 endothelial cell (CL4028002)
Fold Change: 2.63
Marker Score: 6692.5 - Cell Name: epithelial cell of esophagus (CL0002252)
Fold Change: 2.63
Marker Score: 22631.5 - Cell Name: stem cell of epidermis (CL1000428)
Fold Change: 2.62
Marker Score: 886 - Cell Name: reticular cell (CL0000432)
Fold Change: 2.58
Marker Score: 942 - Cell Name: renal interstitial pericyte (CL1001318)
Fold Change: 2.53
Marker Score: 2415.5 - Cell Name: conjunctival epithelial cell (CL1000432)
Fold Change: 2.53
Marker Score: 2663 - Cell Name: germ cell (CL0000586)
Fold Change: 2.51
Marker Score: 4392 - Cell Name: intestine goblet cell (CL0019031)
Fold Change: 2.5
Marker Score: 2398 - Cell Name: alveolar macrophage (CL0000583)
Fold Change: 2.49
Marker Score: 63837 - Cell Name: type G enteroendocrine cell (CL0000508)
Fold Change: 2.49
Marker Score: 857 - Cell Name: luminal epithelial cell of mammary gland (CL0002326)
Fold Change: 2.48
Marker Score: 4402 - Cell Name: bladder urothelial cell (CL1001428)
Fold Change: 2.48
Marker Score: 3656 - Cell Name: myofibroblast cell (CL0000186)
Fold Change: 2.48
Marker Score: 3058 - Cell Name: type II pneumocyte (CL0002063)
Fold Change: 2.45
Marker Score: 15966 - Cell Name: endothelial cell of vascular tree (CL0002139)
Fold Change: 2.42
Marker Score: 3517 - Cell Name: enterocyte (CL0000584)
Fold Change: 2.41
Marker Score: 11554 - Cell Name: fibroblast (CL0000057)
Fold Change: 2.4
Marker Score: 2320 - Cell Name: cell in vitro (CL0001034)
Fold Change: 2.38
Marker Score: 82442 - Cell Name: lactocyte (CL0002325)
Fold Change: 2.37
Marker Score: 38069 - Cell Name: mammary gland epithelial cell (CL0002327)
Fold Change: 2.34
Marker Score: 833 - Cell Name: stromal cell of ovary (CL0002132)
Fold Change: 2.32
Marker Score: 26169 - Cell Name: pericyte (CL0000669)
Fold Change: 2.32
Marker Score: 1356.5 - Cell Name: epithelial cell of stratum germinativum of esophagus (CL1000447)
Fold Change: 2.32
Marker Score: 559 - Cell Name: enteroendocrine cell (CL0000164)
Fold Change: 2.3
Marker Score: 1189 - Cell Name: club cell (CL0000158)
Fold Change: 2.28
Marker Score: 2667 - Cell Name: myoepithelial cell of mammary gland (CL0002324)
Fold Change: 2.27
Marker Score: 11165 - Cell Name: placental villous trophoblast (CL2000060)
Fold Change: 2.26
Marker Score: 8897 - Cell Name: capillary endothelial cell (CL0002144)
Fold Change: 2.25
Marker Score: 2422 - Cell Name: luminal cell of prostate epithelium (CL0002340)
Fold Change: 2.24
Marker Score: 1303.5 - Cell Name: cortical thymic epithelial cell (CL0002364)
Fold Change: 2.24
Marker Score: 8277.5 - Cell Name: bronchial goblet cell (CL1000312)
Fold Change: 2.24
Marker Score: 1103 - Cell Name: endothelial cell (CL0000115)
Fold Change: 2.23
Marker Score: 1998 - Cell Name: theca cell (CL0000503)
Fold Change: 2.22
Marker Score: 1594 - Cell Name: pulmonary artery endothelial cell (CL1001568)
Fold Change: 2.2
Marker Score: 1895 - Cell Name: keratinocyte (CL0000312)
Fold Change: 2.18
Marker Score: 1819 - Cell Name: ependymal cell (CL0000065)
Fold Change: 2.17
Marker Score: 756 - Cell Name: muscle cell (CL0000187)
Fold Change: 2.15
Marker Score: 610 - Cell Name: prostate gland microvascular endothelial cell (CL2000059)
Fold Change: 2.11
Marker Score: 818 - Cell Name: eukaryotic cell (CL0000255)
Fold Change: 2.1
Marker Score: 1083 - Cell Name: pancreatic stellate cell (CL0002410)
Fold Change: 2.1
Marker Score: 1324 - Cell Name: stem cell (CL0000034)
Fold Change: 2.09
Marker Score: 4952 - Cell Name: stromal cell (CL0000499)
Fold Change: 2.08
Marker Score: 2434 - Cell Name: basal cell of epithelium of trachea (CL1000348)
Fold Change: 2.07
Marker Score: 15443 - Cell Name: respiratory goblet cell (CL0002370)
Fold Change: 2.07
Marker Score: 599 - Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
Fold Change: 2.06
Marker Score: 2094 - Cell Name: tracheobronchial smooth muscle cell (CL0019019)
Fold Change: 2.06
Marker Score: 605 - Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: 2.06
Marker Score: 4690.5 - Cell Name: type EC enteroendocrine cell (CL0000577)
Fold Change: 2.04
Marker Score: 1923 - Cell Name: mesothelial cell of epicardium (CL0011019)
Fold Change: 2.03
Marker Score: 653 - Cell Name: keratocyte (CL0002363)
Fold Change: 2.03
Marker Score: 468 - Cell Name: vein endothelial cell (CL0002543)
Fold Change: 2.03
Marker Score: 1835 - Cell Name: lung ciliated cell (CL1000271)
Fold Change: 2.02
Marker Score: 959.5 - Cell Name: elicited macrophage (CL0000861)
Fold Change: 2.01
Marker Score: 12240.5 - Cell Name: adventitial cell (CL0002503)
Fold Change: 2
Marker Score: 494.5 - Cell Name: enteric smooth muscle cell (CL0002504)
Fold Change: 1.99
Marker Score: 4691 - Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: 1.98
Marker Score: 1976 - Cell Name: neural progenitor cell (CL0011020)
Fold Change: 1.98
Marker Score: 7649.5 - Cell Name: epithelial cell of alveolus of lung (CL0010003)
Fold Change: 1.97
Marker Score: 885 - Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: 1.97
Marker Score: 2044 - Cell Name: melanocyte (CL0000148)
Fold Change: 1.97
Marker Score: 797 - Cell Name: vascular associated smooth muscle cell (CL0000359)
Fold Change: 1.96
Marker Score: 897 - Cell Name: acinar cell (CL0000622)
Fold Change: 1.95
Marker Score: 1375 - Cell Name: intestinal crypt stem cell (CL0002250)
Fold Change: 1.94
Marker Score: 729 - Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: 1.93
Marker Score: 478 - Cell Name: T-helper 1 cell (CL0000545)
Fold Change: 1.92
Marker Score: 749 - Cell Name: stromal cell of lamina propria of small intestine (CL0009022)
Fold Change: 1.91
Marker Score: 430 - Cell Name: secretory cell (CL0000151)
Fold Change: 1.91
Marker Score: 3481 - Cell Name: cell of skeletal muscle (CL0000188)
Fold Change: 1.91
Marker Score: 1451
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Other Information
Genular Protein ID: 3457081316
Symbol: LMNA_HUMAN
Name: Prelamin-A/C
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 3453101
Title: Homologies in both primary and secondary structure between nuclear envelope and intermediate filament proteins.
PubMed ID: 3453101
DOI: 10.1038/319463a0
PubMed ID: 3462705
Title: cDNA sequencing of nuclear lamins A and C reveals primary and secondary structural homology to intermediate filament proteins.
PubMed ID: 3462705
PubMed ID: 16061563
Title: In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients.
PubMed ID: 16061563
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
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: 8621584
Title: An alternative splicing product of the lamin A/C gene lacks exon 10.
PubMed ID: 8621584
PubMed ID: 8175923
PubMed ID: 9030603
Title: In vitro assay and characterization of the farnesylation-dependent prelamin A endoprotease.
PubMed ID: 9030603
PubMed ID: 10508479
Title: Antigens recognized by autologous antibody in patients with renal-cell carcinoma.
PubMed ID: 10508479
DOI: 10.1002/(sici)1097-0215(19991112)83:4<456::aid-ijc4>3.0.co;2-5
PubMed ID: 10514485
Title: Prenylated prelamin A interacts with Narf, a novel nuclear protein.
PubMed ID: 10514485
PubMed ID: 12475961
Title: Lamin A/C binding protein LAP2alpha is required for nuclear anchorage of retinoblastoma protein.
PubMed ID: 12475961
PubMed ID: 12714972
Title: Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
PubMed ID: 12714972
DOI: 10.1038/nature01629
PubMed ID: 16339967
Title: LEM2 is a novel MAN1-related inner nuclear membrane protein associated with A-type lamins.
PubMed ID: 16339967
DOI: 10.1242/jcs.02701
PubMed ID: 17081983
Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
PubMed ID: 17081983
PubMed ID: 16964243
Title: A probability-based approach for high-throughput protein phosphorylation analysis and site localization.
PubMed ID: 16964243
DOI: 10.1038/nbt1240
PubMed ID: 17924679
Title: Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra.
PubMed ID: 17924679
DOI: 10.1021/pr070152u
PubMed ID: 18606848
Title: Sumoylation regulates lamin A function and is lost in lamin A mutants associated with familial cardiomyopathies.
PubMed ID: 18606848
PubMed ID: 18220336
Title: Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.
PubMed ID: 18220336
DOI: 10.1021/pr0705441
PubMed ID: 18691976
Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
PubMed ID: 18691976
PubMed ID: 18669648
Title: A quantitative atlas of mitotic phosphorylation.
PubMed ID: 18669648
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: 19323649
Title: Emerin-prelamin A interplay in human fibroblasts.
PubMed ID: 19323649
DOI: 10.1042/bc20080175
PubMed ID: 19220582
Title: The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress.
PubMed ID: 19220582
PubMed ID: 19608861
Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.
PubMed ID: 19608861
PubMed ID: 20079404
Title: Increased plasticity of the nuclear envelope and hypermobility of telomeres due to the loss of A-type lamins.
PubMed ID: 20079404
PubMed ID: 20160190
Title: Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.
PubMed ID: 20160190
PubMed ID: 20458013
Title: Prelamin A acts to accelerate smooth muscle cell senescence and is a novel biomarker of human vascular aging.
PubMed ID: 20458013
PubMed ID: 19933576
Title: Mammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processes.
PubMed ID: 19933576
PubMed ID: 20068231
Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
PubMed ID: 20068231
PubMed ID: 21269460
Title: Initial characterization of the human central proteome.
PubMed ID: 21269460
PubMed ID: 21498514
Title: Identification of a novel muscle enriched A-type Lamin interacting protein (MLIP).
PubMed ID: 21498514
PubMed ID: 21406692
Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
PubMed ID: 21406692
PubMed ID: 22355414
Title: Requirements for efficient proteolytic cleavage of prelamin A by ZMPSTE24.
PubMed ID: 22355414
PubMed ID: 23666920
Title: LMNA-associated cardiocutaneous progeria: An inherited autosomal dominant premature aging syndrome with late onset.
PubMed ID: 23666920
DOI: 10.1002/ajmg.a.35971
PubMed ID: 23186163
Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.
PubMed ID: 23186163
DOI: 10.1021/pr300630k
PubMed ID: 23695662
Title: Depleting the methyltransferase Suv39h1 improves DNA repair and extends lifespan in a progeria mouse model.
PubMed ID: 23695662
DOI: 10.1038/ncomms2885
PubMed ID: 21949239
Title: Myotonic dystrophy protein kinase is critical for nuclear envelope integrity.
PubMed ID: 21949239
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
PubMed ID: 25218447
Title: Uncovering global SUMOylation signaling networks in a site-specific manner.
PubMed ID: 25218447
DOI: 10.1038/nsmb.2890
PubMed ID: 25114211
Title: Mapping of SUMO sites and analysis of SUMOylation changes induced by external stimuli.
PubMed ID: 25114211
PubMed ID: 25772364
Title: SUMO-2 orchestrates chromatin modifiers in response to DNA damage.
PubMed ID: 25772364
PubMed ID: 25755297
Title: System-wide analysis of SUMOylation dynamics in response to replication stress reveals novel small ubiquitin-like modified target proteins and acceptor lysines relevant for genome stability.
PubMed ID: 25755297
PubMed ID: 25944712
Title: N-terminome analysis of the human mitochondrial proteome.
PubMed ID: 25944712
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: 29599122
Title: Intersectin goes nuclear: secret life of an endocytic protein.
PubMed ID: 29599122
DOI: 10.1042/bcj20170897
PubMed ID: 11901143
Title: Structure of the globular tail of nuclear lamin.
PubMed ID: 11901143
PubMed ID: 12057196
Title: The Ig-like structure of the C-terminal domain of lamin A/C, mutated in muscular dystrophies, cardiomyopathy, and partial lipodystrophy.
PubMed ID: 12057196
PubMed ID: 15476822
Title: Crystal structure of the human lamin A coil 2B dimer: implications for the head-to-tail association of nuclear lamins.
PubMed ID: 15476822
PubMed ID: 10080180
Title: Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.
PubMed ID: 10080180
DOI: 10.1038/6799
PubMed ID: 10580070
Title: Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.
PubMed ID: 10580070
PubMed ID: 10739751
Title: Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C.
PubMed ID: 10739751
DOI: 10.1086/302836
PubMed ID: 10739764
Title: Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.
PubMed ID: 10739764
DOI: 10.1086/302869
PubMed ID: 10939567
Title: Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.
PubMed ID: 10939567
DOI: 10.1002/1531-8249(200008)48:2<170::aid-ana6>3.3.co;2-a
PubMed ID: 10587585
Title: Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy.
PubMed ID: 10587585
DOI: 10.1093/hmg/9.1.109
PubMed ID: 10814726
Title: Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B).
PubMed ID: 10814726
DOI: 10.1093/hmg/9.9.1453
PubMed ID: 10655060
Title: LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.
PubMed ID: 10655060
DOI: 10.1038/72807
PubMed ID: 10908904
Title: Autosomal dominant Emery-Dreifuss dystrophy due to mutations in rod domain of the lamin A/C gene.
PubMed ID: 10908904
DOI: 10.1212/wnl.55.2.275
PubMed ID: 11503164
Title: Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy.
PubMed ID: 11503164
DOI: 10.1002/ajmg.1463
PubMed ID: 11561226
Title: Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease.
PubMed ID: 11561226
PubMed ID: 11792809
Title: Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy.
PubMed ID: 11792809
PubMed ID: 11525883
Title: A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block.
PubMed ID: 11525883
PubMed ID: 12486434
Title: A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease, and need for permanent pacemaker implantation.
PubMed ID: 12486434
PubMed ID: 11799477
Title: Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.
PubMed ID: 11799477
DOI: 10.1086/339274
PubMed ID: 12075506
Title: Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.
PubMed ID: 12075506
DOI: 10.1086/341908
PubMed ID: 12015247
Title: Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene.
PubMed ID: 12015247
PubMed ID: 11897440
Title: Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease.
PubMed ID: 11897440
PubMed ID: 12032588
Title: Identification of lamin A/C (LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B.
PubMed ID: 12032588
PubMed ID: 12196663
Title: Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy.
PubMed ID: 12196663
DOI: 10.1212/wnl.59.4.620
PubMed ID: 12467752
Title: Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy.
PubMed ID: 12467752
PubMed ID: 14675861
Title: Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation.
PubMed ID: 14675861
PubMed ID: 12673789
Title: Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype.
PubMed ID: 12673789
DOI: 10.1002/humu.10170
PubMed ID: 12628721
Title: Natural history of dilated cardiomyopathy due to lamin A/C gene mutations.
PubMed ID: 12628721
PubMed ID: 12629077
Title: A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy.
PubMed ID: 12629077
PubMed ID: 12768443
Title: LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).
PubMed ID: 12768443
PubMed ID: 12920062
Title: Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.
PubMed ID: 12920062
DOI: 10.1136/jmg.40.8.560
PubMed ID: 14684700
Title: Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes.
PubMed ID: 14684700
PubMed ID: 12927431
Title: LMNA mutations in atypical Werner's syndrome.
PubMed ID: 12927431
PubMed ID: 12649505
Title: Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study.
PubMed ID: 12649505
PubMed ID: 15219508
Title: Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations.
PubMed ID: 15219508
PubMed ID: 15140538
Title: A novel mutation, Ser143Pro, in the lamin A/C gene is common in Finnish patients with familial dilated cardiomyopathy.
PubMed ID: 15140538
PubMed ID: 15317753
Title: Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.
PubMed ID: 15317753
DOI: 10.1093/hmg/ddh265
PubMed ID: 15060110
Title: Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes.
PubMed ID: 15060110
PubMed ID: 15286156
Title: Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome.
PubMed ID: 15286156
PubMed ID: 14985400
Title: A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia.
PubMed ID: 14985400
PubMed ID: 15372542
Title: Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations.
PubMed ID: 15372542
DOI: 10.1002/mus.20122
PubMed ID: 15622532
Title: p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria.
PubMed ID: 15622532
DOI: 10.1002/ana.20359
PubMed ID: 16156025
Title: Gene symbol: LMNA. Disease: cardiomyopathy, dilated, with conduction defect 1.
PubMed ID: 16156025
PubMed ID: 15998779
Title: A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia.
PubMed ID: 15998779
DOI: 10.1210/jc.2004-2560
PubMed ID: 15744034
Title: Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy.
PubMed ID: 15744034
PubMed ID: 16278265
Title: A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features.
PubMed ID: 16278265
DOI: 10.1210/jc.2005-1297
PubMed ID: 17150192
Title: Collagen expression in fibroblasts with a novel LMNA mutation.
PubMed ID: 17150192
PubMed ID: 17250669
Title: Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660).
PubMed ID: 17250669
PubMed ID: 17136397
Title: Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy.
PubMed ID: 17136397
PubMed ID: 17711925
Title: New metabolic phenotypes in laminopathies: LMNA mutations in patients with severe metabolic syndrome.
PubMed ID: 17711925
DOI: 10.1210/jc.2007-0654
PubMed ID: 18551513
Title: De novo LMNA mutations cause a new form of congenital muscular dystrophy.
PubMed ID: 18551513
DOI: 10.1002/ana.21417
PubMed ID: 18611980
Title: Heart-hand syndrome of Slovenian type: a new kind of laminopathy.
PubMed ID: 18611980
PubMed ID: 31548606
Title: The nucleoskeleton protein IFFO1 immobilizes broken DNA and suppresses chromosome translocation during tumorigenesis.
PubMed ID: 31548606
PubMed ID: 19283854
Title: Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation.
PubMed ID: 19283854
DOI: 10.1002/ajmg.a.32627
PubMed ID: 19427440
Title: Comprehensive mutation scanning of LMNA in 268 patients with lone atrial fibrillation.
PubMed ID: 19427440
Sequence Information:
- Length: 664
- Mass: 74139
- Checksum: E0855F7699F0318B
- Sequence:
METPSQRRAT RSGAQASSTP LSPTRITRLQ EKEDLQELND RLAVYIDRVR SLETENAGLR LRITESEEVV SREVSGIKAA YEAELGDARK TLDSVAKERA RLQLELSKVR EEFKELKARN TKKEGDLIAA QARLKDLEAL LNSKEAALST ALSEKRTLEG ELHDLRGQVA KLEAALGEAK KQLQDEMLRR VDAENRLQTM KEELDFQKNI YSEELRETKR RHETRLVEID NGKQREFESR LADALQELRA QHEDQVEQYK KELEKTYSAK LDNARQSAER NSNLVGAAHE ELQQSRIRID SLSAQLSQLQ KQLAAKEAKL RDLEDSLARE RDTSRRLLAE KEREMAEMRA RMQQQLDEYQ ELLDIKLALD MEIHAYRKLL EGEEERLRLS PSPTSQRSRG RASSHSSQTQ GGGSVTKKRK LESTESRSSF SQHARTSGRV AVEEVDEEGK FVRLRNKSNE DQSMGNWQIK RQNGDDPLLT YRFPPKFTLK AGQVVTIWAA GAGATHSPPT DLVWKAQNTW GCGNSLRTAL INSTGEEVAM RKLVRSVTVV EDDEDEDGDD LLHHHHGSHC SSSGDPAEYN LRSRTVLCGT CGQPADKASA SGSGAQVGGP ISSGSSASSV TVTRSYRSVG GSGGGSFGDN LVTRSYLLGN SSPRTQSPQN CSIM
Genular Protein ID: 666326040
Symbol: Q5TCI8_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 17081983
Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
PubMed ID: 17081983
PubMed ID: 16964243
Title: A probability-based approach for high-throughput protein phosphorylation analysis and site localization.
PubMed ID: 16964243
DOI: 10.1038/nbt1240
PubMed ID: 16710414
Title: The DNA sequence and biological annotation of human chromosome 1.
PubMed ID: 16710414
DOI: 10.1038/nature04727
PubMed ID: 17924679
Title: Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra.
PubMed ID: 17924679
DOI: 10.1021/pr070152u
PubMed ID: 18691976
Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
PubMed ID: 18691976
PubMed ID: 18669648
Title: A quantitative atlas of mitotic phosphorylation.
PubMed ID: 18669648
PubMed ID: 19608861
Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.
PubMed ID: 19608861
PubMed ID: 20068231
Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
PubMed ID: 20068231
PubMed ID: 21269460
Title: Initial characterization of the human central proteome.
PubMed ID: 21269460
PubMed ID: 21406692
Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
PubMed ID: 21406692
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
PubMed ID: 25218447
Title: Uncovering global SUMOylation signaling networks in a site-specific manner.
PubMed ID: 25218447
PubMed ID: 25114211
Title: Mapping of SUMO sites and analysis of SUMOylation changes induced by external stimuli.
PubMed ID: 25114211
PubMed ID: 25772364
Title: SUMO-2 orchestrates chromatin modifiers in response to DNA damage.
PubMed ID: 25772364
PubMed ID: 25755297
Title: System-wide analysis of SUMOylation dynamics in response to replication stress reveals novel small ubiquitin-like modified target proteins and acceptor lysines relevant for genome stability.
PubMed ID: 25755297
PubMed ID: 25944712
Title: N-terminome analysis of the human mitochondrial proteome.
PubMed ID: 25944712
PubMed ID: 28112733
Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.
PubMed ID: 28112733
Sequence Information:
- Length: 491
- Mass: 55762
- Checksum: 620B6533D9D65D70
- Sequence:
MQPLLCLGNL EDARERTGTL LAQHPAWGRT RAKPGSPLNT KKEGDLIAAQ ARLKDLEALL NSKEAALSTA LSEKRTLEGE LHDLRGQVAK LEAALGEAKK QLQDEMLRRV DAENRLQTMK EELDFQKNIY SEELRETKRR HETRLVEIDN GKQREFESRL ADALQELRAQ HEDQVEQYKK ELEKTYSAKL DNARQSAERN SNLVGAAHEE LQQSRIRIDS LSAQLSQLQK QLAAKEAKLR DLEDSLARER DTSRRLLAEK EREMAEMRAR MQQQLDEYQE LLDIKLALDM EIHAYRKLLE GEEERLRLSP SPTSQRSRGR ASSHSSQTQG GGSVTKKRKL ESTESRSSFS QHARTSGRVA VEEVDEEGKF VRLRNKSNED QSMGNWQIKR QNGDDPLLTY RFPPKFTLKA GQVVTIWAAG AGATHSPPTD LVWKAQNTWG CGNSLRTALI NSTGEEVAMR KLVRSVTVVE DDEDEDGDDL LHHHHVSGSR R
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. For the full schema, download it here.