Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	30820
Gene name	Potassium voltage-gated channel interacting protein 1
Gene symbol	KCNIP1
Synonyms (NCBI Gene)	KCHIP1VABP
Chromosome	5
Chromosome location	5q35.1
Summary	This gene encodes a member of the family of cytosolic voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belong to the neuronal calcium sensor (NCS) family of the calcium binding EF-hand proteins. They associate with Kv4 alpha subun

Show/Hide all (13)

miRTarBase ID	miRNA	Experiments
MIRT1081120	hsa-miR-3168	CLIP-seq
MIRT1081121	hsa-miR-4693-3p	CLIP-seq
MIRT1081122	hsa-miR-378g	CLIP-seq
MIRT1081123	hsa-miR-4437	CLIP-seq
MIRT1081124	hsa-miR-4674	CLIP-seq
MIRT2020107	hsa-miR-3123	CLIP-seq
MIRT2020108	hsa-miR-4302	CLIP-seq
MIRT2251921	hsa-miR-4436b-3p	CLIP-seq
MIRT2452194	hsa-miR-2467-3p	CLIP-seq
MIRT2452195	hsa-miR-3126-5p	CLIP-seq
MIRT2452196	hsa-miR-3649	CLIP-seq
MIRT2452197	hsa-miR-4503	CLIP-seq
MIRT2452198	hsa-miR-4720-3p	CLIP-seq

Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005267	Function	Potassium channel activity	IEA
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	IDA	17187064
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	10551270, 14980207, 15358149, 17057713, 17187064, 32296183
GO:0005737	Component	Cytoplasm	IDA	10676964
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0006936	Process	Muscle contraction	NAS	21349352
GO:0007268	Process	Chemical synaptic transmission	NAS	21349352
GO:0008016	Process	Regulation of heart contraction	NAS	21349352
GO:0008076	Component	Voltage-gated potassium channel complex	IBA
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	10676964, 17187064
GO:0009898	Component	Cytoplasmic side of plasma membrane	IDA	10676964
GO:0009966	Process	Regulation of signal transduction	IBA
GO:0015459	Function	Potassium channel regulator activity	IBA
GO:0015459	Function	Potassium channel regulator activity	IDA	10676964, 17187064
GO:0016020	Component	Membrane	IEA
GO:0030425	Component	Dendrite	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0042995	Component	Cell projection	IEA
GO:0044325	Function	Transmembrane transporter binding	IBA
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0071196	Component	Kv4.3-KChIP1 channel complex	IPI	17187064
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0086009	Process	Membrane repolarization	NAS	21349352
GO:0097623	Process	Potassium ion export across plasma membrane	NAS	21349352
GO:1901379	Process	Regulation of potassium ion transmembrane transport	IBA
GO:1901379	Process	Regulation of potassium ion transmembrane transport	IDA	10676964, 17187064

MIM	HGNC	e!Ensembl
604660	15521	ENSG00000182132

Q9NZI2

Protein name

A-type potassium channel modulatory protein KCNIP1 (Kv channel-interacting protein 1) (KChIP1) (Potassium channel-interacting protein 1) (Vesicle APC-binding protein)

Protein function

Regulatory subunit of Kv4/D (Shal)-type voltage-gated rapidly inactivating A-type potassium channels (PubMed:10676964, PubMed:11423117, PubMed:17187064, PubMed:34552243, PubMed:34997220). Regulates channel density, inactivation kinetics and rate

PDB

1S1E , 2I2R , 2NZ0 , 7E83 , 7E84 , 7F3F , 7W6N , 7W6T

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13833	EF-hand_8	76 → 129	EF-hand domain pair	Domain
PF13499	EF-hand_7	135 → 211	EF-hand domain pair	Domain
PF13202	EF-hand_5	186 → 210	EF hand	Domain

Tissue specificity

TISSUE SPECIFICITY: Isoform 1 and isoform 2 are expressed in brain and kidney. Isoform 1 is also expressed in liver, pancreas, skeletal muscle, small intestine and testis. Isoform 2 is also expressed in lung, pancreas, leukocytes, prostate and thymus.

Sequence

MGAVMGTFSSLQTKQRRPSKDIAWWYYQYQRDKIEDELEMTMVCHRPEGLEQLEAQTNFT
KRELQVLYRGFKNECPSGVVNEDTFKQIYAQFFPHGDASTYAHYLFNAFDTTQTGSVKFE
DFVTALSILLRGTVHEKLRWTFNLYDINKDGYINKEEMMDIVKAIYDMMGKYTYPVLKED
TPRQHVDVFFQKMDKNKDGIVTLDEFLESCQEDDNIMRSLQLFQNVM

Sequence length

227

Interactions

View interactions

	Reactome
			Phase 1 - inactivation of fast Na+ channels

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Idiopathic generalized epilepsy	Pathogenic	rs1763869544	RCV001581098	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BEHCET'S SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION, DIASTOLIC, RESISTANCE TO	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (23)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	24681403		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	26831368		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	29176790, 34573389	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	29176790		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Body Weight	Body weight	Pubtator	34573389	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	29745858		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	29745858		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	GWASCAT_DG	28779025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	27864399	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	34341332	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	29491224	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	24886904, 29491224		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	24886904		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	29176790	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	29745858		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE	Mental retardation	BEFREE	30254424		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	31228212		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	31228212	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal Insufficiency	Renal Insufficiency	BEFREE	29451043		★★★★★ ★☆☆☆☆ Found in Text Mining only
Russell-Silver syndrome	Russell-Silver Syndrome	BEFREE	30254424		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	27846195		★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	30254424		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	29745858	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

KCNIP1 (potassium voltage-gated channel interacting protein 1)