Property Summary

NCBI Gene PubMed Count 21
Grant Count 91
R01 Count 51
Funding $10,835,679.87
PubMed Score 697.13
PubTator Score 94.86

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
glioblastoma -1.100 0.000
posterior fossa group B ependymoma 1.200 0.000

Gene

PDB

1VZJ  

Gene RIF (12)

PMID Text
26282582 Global splicing analysis with RNA-seq revealed that exons carrying the hnRNP H-binding GGGGG motif are predisposed to be skipped compared to those carrying the SRSF1-binding GGAGG motif in both human and mouse brains.
24938146 study identified the molecular cause underlying congenital myasthenic syndrome in two patients in a Syrian family, a novel missense mutation, homozygous single nucleotide substitution (c.1010T>C) in the COLQ gene
24281389 findings suggest that the impaired attachment of COOH-terminal mutants causing EP AChE deficiency is in part independent of MuSK, and that the COOH-terminus of ColQ may interact with other proteins at the BL
23553736 We proved that the missense mutations in ColQ-CTD cause endplate AChE deficiency by compromising ColQ-MuSK interaction at the NMJ.
22490774 This study presented that four cases illustrate the clinical spectrum of the recurrent homozygous W148X mutation in the COLQ gene.
22088788 Long-term follow-up of patients with COLQ mutations showed no genotype-phenotype correlation, 80% of patients were ambulant and 87% of patients had no respiratory trouble in spite of severe relapses.
20370815 two siblings have identical novel heterozygous mutations but different phenotypic expressions.
18180250 Twenty different mutations of the COLQ gene have been identified in our patients: The mutations are missense (6), splice-site (3), in-frame deletion (1), non-sense (4) and frameshift (6). The majority of the mutations are protein truncating.
17300939 we found familial occurrence of congenital ptosis in heterozygous carriers of 950delC.
16256971 muscle fiber type-specific expression pattern of ColQ transcripts was regulated by a slow upsteam regulatory element (SURE) and a fast intronic regulatory element (FIRE)
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AA Sequence

MVVLNPMTLGIYLQLFFLSIVSQPTFINSVLPISAALPSLDQKKRGGHKACCLLTPPPPPLFPPPFFRGG      1 - 70
RSPLLSPDMKNLMLELETSQSPCMQGSLGSPGPPGPQGPPGLPGKTGPKGEKGELGRPGRKGRPGPPGVP     71 - 140
GMPGPIGWPGPEGPRGEKGDLGMMGLPGSRGPMGSKGYPGSRGEKGSRGEKGDLGPKGEKGFPGFPGMLG    141 - 210
QKGEMGPKGEPGIAGHRGPTGRPGKRGKQGQKGDSGVMGPPGKPGPSGQPGRPGPPGPPPAGQLIMGPKG    211 - 280
ERGFPGPPGRCLCGPTMNVNNPSYGESVYGPSSPRVPVIFVVNNQEELERLNTQNAIAFRRDQRSLYFKD    281 - 350
SLGWLPIQLTPFYPVDYTADQHGTCGDGLLQPGEECDDGNSDVGDDCIRCHRAYCGDGHRHEGVEDCDGS    351 - 420
DFGYLTCETYLPGSYGDLQCTQYCYIDSTPCRYFT                                       421 - 455
//

Text Mined References (23)

PMID Year Title
26282582 2015 SRSF1 and hnRNP H antagonistically regulate splicing of COLQ exon 16 in a congenital myasthenic syndrome.
24938146 2014 Clinical and molecular analysis of a novel COLQ missense mutation causing congenital myasthenic syndrome in a Syrian family.
24281389 2014 COOH-terminal collagen Q (COLQ) mutants causing human deficiency of endplate acetylcholinesterase impair the interaction of ColQ with proteins of the basal lamina.
23553736 2013 Mutations in the C-terminal domain of ColQ in endplate acetylcholinesterase deficiency compromise ColQ-MuSK interaction.
22490774 2012 Recurrent COLQ mutation in congenital myasthenic syndrome.
22088788 2012 Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations.
20370815 2010 Intra-familial variation in clinical manifestations and response to ephedrine in siblings with congenital myasthenic syndrome caused by novel COLQ mutations.
18180250 2008 Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.
17300939 2007 Novel COLQ mutation 950delC in synaptic congenital myasthenic syndrome and symptomatic heterozygous relatives.
16256971 2005 Transcriptional regulation of acetylcholinesterase-associated collagen ColQ in fast- and slow-twitch muscle fibers.
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