Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 30820
MIM: 604660
HGNC: 15521
Ensembl: ENSG00000182132
Variants:
dbSNP: 30820
ClinVar: 30820
TCGA: ENSG00000182132
COSMIC: KCNIP1
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Muscle contraction | REACTOME | R-HSA-397014 |
| Cardiac conduction | REACTOME | R-HSA-5576891 |
| Phase 1 - inactivation of fast Na+ channels | REACTOME | R-HSA-5576894 |
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA443796 | Coronary Artery Disease | Disease | ClinicalAnnotation | associated | PD | 17700361 | |
| PA444552 | Hypertension | Disease | ClinicalAnnotation | associated | PD | 17700361, 18496125, 18854753 | |
| PA451868 | verapamil | Chemical | ClinicalAnnotation | associated | PD | 17700361, 18496125, 18854753 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 29491224 | 2018 | Divergent patterns of genic copy number variation in KCNIP1 gene reveal risk locus of type 2 diabetes in Chinese population. | 1 |
| 29491224 | 2018 | Divergent patterns of genic copy number variation in KCNIP1 gene reveal risk locus of type 2 diabetes in Chinese population. | 1 |
| 28132811 | 2017 | The ER-Mitochondria Tethering Complex VAPB-PTPIP51 Regulates Autophagy. | 200 |
| 29176790 | 2017 | Attention-deficit/hyperactivity disorder associated with KChIP1 rs1541665 in Kv channels accessory proteins. | 3 |
| 28132811 | 2017 | The ER-Mitochondria Tethering Complex VAPB-PTPIP51 Regulates Autophagy. | 200 |
| 29176790 | 2017 | Attention-deficit/hyperactivity disorder associated with KChIP1 rs1541665 in Kv channels accessory proteins. | 3 |
| 26831368 | 2016 | Genome-wide screening identifies a KCNIP1 copy number variant as a genetic predictor for atrial fibrillation. | 23 |
| 26831368 | 2016 | Genome-wide screening identifies a KCNIP1 copy number variant as a genetic predictor for atrial fibrillation. | 23 |
| 24681403 | 2014 | Protein aggregation due to nsSNP resulting in P56S VABP protein is associated with amyotrophic lateral sclerosis. | 7 |
| 24792378 | 2014 | First evidence of pathogenicity of V234I mutation of hVAPB found in Amyotrophic Lateral Sclerosis. | 11 |
| 24886904 | 2014 | Genome-wide copy number variation study reveals KCNIP1 as a modulator of insulin secretion. | 2 |
| 24681403 | 2014 | Protein aggregation due to nsSNP resulting in P56S VABP protein is associated with amyotrophic lateral sclerosis. | 7 |
| 24792378 | 2014 | First evidence of pathogenicity of V234I mutation of hVAPB found in Amyotrophic Lateral Sclerosis. | 11 |
| 24886904 | 2014 | Genome-wide copy number variation study reveals KCNIP1 as a modulator of insulin secretion. | 2 |
| 21129448 | 2011 | KChIP1 modulation of Kv4.3-mediated A-type K(+) currents and repetitive firing in hippocampal interneurons. | 14 |
Citation
Dessen P
KCNIP1 (potassium voltage-gated channel interacting protein 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54392/kcnip1-(potassium-voltage-gated-channel-interacting-protein-1)
