Property Summary

NCBI Gene PubMed Count 31
Grant Count 5
Funding $657,802.94
PubMed Score 31.37
PubTator Score 31.22

Knowledge Summary

Patent (2,535)

Expression

  Differential Expression (7)

Gene RIF (11)

PMID Text
26831368 These studies showed that a common copy number variation in KCNIP1 gene is a genetic predictor of atrial fibrillation risk possibly pointing to a functional pathway.
24886904 KCNIP1 from copy number variations study might function as a type 2 diabetes susceptibility gene whose dysregulation alters insulin production.
24792378 V234I-VAPB induces ubiquitin aggregation followed by cell death; proposed that V234I-VAPB exhibits the characteristics of amyotrophic lateral sclerosis in spite of not having the typical aggregation property of different mutations in various neurodegenerative diseases
24681403 Protein aggregation due to nsSNP resulting in P56S VABP protein is associated with amyotrophic lateral sclerosis
21129448 our findings suggest that KChIP1 interacts with Kv4.3 in interneurons at the stratum lacunosum-moleculare/radiatum junction
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19550036 EF-hands 3 and 4 of KChIP1 are functionally involved in a specific association with PS on the membrane
18393943 These results reveal a new role for KChIP3 in the regulation of calcium regulated secretion and also suggest that the functions of each of the KChIPs may be more specialized than previously appreciated.
17057713 X-ray crystallographic and small-angle X-ray scattering data that show that the KChIP1-Kv4.3 N-terminal cytoplasmic domain complex is a cross-shaped octamer bearing two principal interaction sites.
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AA Sequence

MGAVMGTFSSLQTKQRRPSKDIAWWYYQYQRDKIEDELEMTMVCHRPEGLEQLEAQTNFTKRELQVLYRG      1 - 70
FKNECPSGVVNEDTFKQIYAQFFPHGDASTYAHYLFNAFDTTQTGSVKFEDFVTALSILLRGTVHEKLRW     71 - 140
TFNLYDINKDGYINKEEMMDIVKAIYDMMGKYTYPVLKEDTPRQHVDVFFQKMDKNKDGIVTLDEFLESC    141 - 210
QEDDNIMRSLQLFQNVM                                                         211 - 227
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Text Mined References (33)

PMID Year Title
26831368 2016 Genome-wide screening identifies a KCNIP1 copy number variant as a genetic predictor for atrial fibrillation.
24927181 2014 Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
24886904 2014 Genome-wide copy number variation study reveals KCNIP1 as a modulator of insulin secretion.
24792378 2014 First evidence of pathogenicity of V234I mutation of hVAPB found in Amyotrophic Lateral Sclerosis.
24681403 2014 Protein aggregation due to nsSNP resulting in P56S VABP protein is associated with amyotrophic lateral sclerosis.
22612322 2012 Subcellular localization and transcription regulatory potency of KCNIP/Calsenilin/DREAM/KChIP proteins in cultured primary cortical neurons do not provide support for their role in CRE-dependent gene expression.
22020049 2012 Molecular structure and target recognition of neuronal calcium sensor proteins.
21129448 2011 KChIP1 modulation of Kv4.3-mediated A-type K(+) currents and repetitive firing in hippocampal interneurons.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
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