KCNIP1 (potassium voltage-gated channel interacting protein 1)

2014-08-01  

Identity

HGNC
KCNIP1
LOCATION
5q35.1
LOCUSID
30820
ALIAS
KCHIP1,VABP
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 30820
MIM: 604660
HGNC: 15521
Ensembl: ENSG00000182132

Variants:

dbSNP: 30820
ClinVar: 30820
TCGA: ENSG00000182132
COSMIC: KCNIP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000182132ENST00000328939Q9NZI2
ENSG00000182132ENST00000377360Q9NZI2
ENSG00000182132ENST00000390656A0A0A0MS16
ENSG00000182132ENST00000411494Q9NZI2
ENSG00000182132ENST00000434108Q9NZI2
ENSG00000182132ENST00000517344E5RJY5
ENSG00000182132ENST00000520740Q9NZI2
ENSG00000182132ENST00000616807A0A087WTU8
ENSG00000182132ENST00000636734A0A1B0GTZ7

Expression (GTEx)

0
5
10
15
20
25
30
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Muscle contractionREACTOMER-HSA-397014
Cardiac conductionREACTOMER-HSA-5576891
Phase 1 - inactivation of fast Na+ channelsREACTOMER-HSA-5576894

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443796Coronary Artery DiseaseDiseaseClinicalAnnotationassociatedPD17700361
PA444552HypertensionDiseaseClinicalAnnotationassociatedPD17700361, 18496125, 18854753
PA451868verapamilChemicalClinicalAnnotationassociatedPD17700361, 18496125, 18854753

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
170577132006Three-dimensional structure of the KChIP1-Kv4.3 T1 complex reveals a cross-shaped octamer.76
281328112017The ER-Mitochondria Tethering Complex VAPB-PTPIP51 Regulates Autophagy.68
211294482011KChIP1 modulation of Kv4.3-mediated A-type K(+) currents and repetitive firing in hippocampal interneurons.14
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
268313682016Genome-wide screening identifies a KCNIP1 copy number variant as a genetic predictor for atrial fibrillation.10
183939432008Specific effects of KChIP3/calsenilin/DREAM, but not KChIPs 1, 2 and 4, on calcium signalling and regulated secretion in PC12 cells.7
247923782014First evidence of pathogenicity of V234I mutation of hVAPB found in Amyotrophic Lateral Sclerosis.6
246814032014Protein aggregation due to nsSNP resulting in P56S VABP protein is associated with amyotrophic lateral sclerosis.4
153581492004Protein-protein interactions of KChIP proteins and Kv4.2.3

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)