Property Summary

NCBI Gene PubMed Count 80
Grant Count 13
R01 Count 1
Funding $963,785.83
PubMed Score 59.39
PubTator Score 112.66

Knowledge Summary

Patent

No data available

Expression

Gene RIF (48)

PMID Text
26637483 SMC1A plays an oncogenic role in colorectal cancer.
26581180 numerous dysregulated genes occupied by cohesin by combining the transcriptome of CdLS cell lines carrying mutations in SMC1A gene, were identified.
26386245 two novel de novo heterozygous frameshift mutations in the SMC1A gene were identified in two patients with developmental delay and epilepsy.
26358754 Loss-of-function mutations of SMC1A may be associated with early-onset encephalopathy with epilepsy.
26206533 same down-regulation of cohesin targets is observed in SMC1A-mutated patient fibroblasts
25884313 Results show that SMC1A is overexpressed in colorectal cancer tissues and correlated with poor prognosis for late stage disease.
25875106 Our findings identify both SMC1 and CTCF as critical regulators of the differentiation-dependent life cycle of high-risk human papillomaviruses
25080505 The SMC1a mutation leads to chromosomal instability and tumorigenesis in early colorectal adenomas.
24756084 A dominant negative effect is considered the pathogenic mechanism in SMC1A-defective female patients, the level of allelic preferential expression might be one of the factors contributing to the wide phenotypic variability observed in these patients.
24124034 Our clinical and molecular findings expand the total number of characterized SMC1A-mutated patients (from 44 to 52) and the restricted repertoire of SMC1A mutations (from 29 to 34), contributing to the molecular and clinical signature of SMC1A-based CdLS.
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AA Sequence

MGFLKLIEIENFKSYKGRQIIGPFQRFTAIIGPNGSGKSNLMDAISFVLGEKTSNLRVKTLRDLIHGAPV      1 - 70
GKPAANRAFVSMVYSEEGAEDRTFARVIVGGSSEYKINNKVVQLHEYSEELEKLGILIKARNFLVFQGAV     71 - 140
ESIAMKNPKERTALFEEISRSGELAQEYDKRKKEMVKAEEDTQFNYHRKKNIAAERKEAKQEKEEADRYQ    141 - 210
RLKDEVVRAQVQLQLFKLYHNEVEIEKLNKELASKNKEIEKDKKRMDKVEDELKEKKKELGKMMREQQQI    211 - 280
EKEIKEKDSELNQKRPQYIKAKENTSHKIKKLEAAKKSLQNAQKHYKKRKGDMDELEKEMLSVEKARQEF    281 - 350
EERMEEESQSQGRDLTLEENQVKKYHRLKEEASKRAATLAQELEKFNRDQKADQDRLDLEERKKVETEAK    351 - 420
IKQKLREIEENQKRIEKLEEYITTSKQSLEEQKKLEGELTEEVEMAKRRIDEINKELNQVMEQLGDARID    421 - 490
RQESSRQQRKAEIMESIKRLYPGSVYGRLIDLCQPTQKKYQIAVTKVLGKNMDAIIVDSEKTGRDCIQYI    491 - 560
KEQRGEPETFLPLDYLEVKPTDEKLRELKGAKLVIDVIRYEPPHIKKALQYACGNALVCDNVEDARRIAF    561 - 630
GGHQRHKTVALDGTLFQKSGVISGGASDLKAKARRWDEKAVDKLKEKKERLTEELKEQMKAKRKEAELRQ    631 - 700
VQSQAHGLQMRLKYSQSDLEQTKTRHLALNLQEKSKLESELANFGPRINDIKRIIQSREREMKDLKEKMN    701 - 770
QVEDEVFEEFCREIGVRNIREFEEEKVKRQNEIAKKRLEFENQKTRLGIQLDFEKNQLKEDQDKVHMWEQ    771 - 840
TVKKDENEIEKLKKEEQRHMKIIDETMAQLQDLKNQHLAKKSEVNDKNHEMEEIRKKLGGANKEMTHLQK    841 - 910
EVTAIETKLEQKRSDRHNLLQACKMQDIKLPLSKGTMDDISQEEGSSQGEDSVSGSQRISSIYAREALIE    911 - 980
IDYGDLCEDLKDAQAEEEIKQEMNTLQQKLNEQQSVLQRIAAPNMKAMEKLESVRDKFQETSDEFEAARK    981 - 1050
RAKKAKQAFEQIKKERFDRFNACFESVATNIDEIYKALSRNSSAQAFLGPENPEEPYLDGINYNCVAPGK   1051 - 1120
RFRPMDNLSGGEKTVAALALLFAIHSYKPAPFFVLDEIDAALDNTNIGKVANYIKEQSTCNFQAIVISLK   1121 - 1190
EEFYTKAESLIGVYPEQGDCVISKVLTFDLTKYPDANPNPNEQ                              1191 - 1233
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Text Mined References (88)

PMID Year Title
26637483 2016 Downregulation of SMC1A inhibits growth and increases apoptosis and chemosensitivity of colorectal cancer cells.
26581180 2015 Mutant cohesin affects RNA polymerase II regulation in Cornelia de Lange syndrome.
26386245 2015 Novel SMC1A frameshift mutations in children with developmental delay and epilepsy.
26358754 2015 Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.
26206533 2016 CyclinD1 Down-Regulation and Increased Apoptosis Are Common Features of Cohesinopathies.
25884313 2015 Role of SMC1A overexpression as a predictor of poor prognosis in late stage colorectal cancer.
25875106 2015 Human papillomaviruses activate and recruit SMC1 cohesin proteins for the differentiation-dependent life cycle through association with CTCF insulators.
25080505 2014 Mutant cohesin drives chromosomal instability in early colorectal adenomas.
24756084 2014 Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
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