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	7881
Gene name	Potassium voltage-gated channel subfamily A regulatory beta subunit 1
Gene symbol	KCNAB1
Synonyms (NCBI Gene)	AKR6A3KCNA1BKV-BETA-1Kvb1.3hKvBeta3hKvb3
Chromosome	3
Chromosome location	3q25.31
Summary	Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, e

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miRTarBase ID	miRNA	Experiments	Reference
MIRT447061	hsa-miR-4282	PAR-CLIP	22100165
MIRT447062	hsa-miR-3606-3p	PAR-CLIP	22100165
MIRT447060	hsa-miR-513a-3p	PAR-CLIP	22100165
MIRT447059	hsa-miR-513c-3p	PAR-CLIP	22100165
MIRT447058	hsa-miR-3613-3p	PAR-CLIP	22100165
MIRT447057	hsa-miR-144-5p	PAR-CLIP	22100165
MIRT447056	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT447055	hsa-miR-578	PAR-CLIP	22100165
MIRT447061	hsa-miR-4282	PAR-CLIP	22100165
MIRT447062	hsa-miR-3606-3p	PAR-CLIP	22100165
MIRT447060	hsa-miR-513a-3p	PAR-CLIP	22100165
MIRT447059	hsa-miR-513c-3p	PAR-CLIP	22100165
MIRT447058	hsa-miR-3613-3p	PAR-CLIP	22100165
MIRT447057	hsa-miR-144-5p	PAR-CLIP	22100165
MIRT447056	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT447055	hsa-miR-578	PAR-CLIP	22100165
MIRT1080347	hsa-miR-1246	CLIP-seq
MIRT1080348	hsa-miR-1290	CLIP-seq
MIRT1080349	hsa-miR-2052	CLIP-seq
MIRT1080350	hsa-miR-3121-3p	CLIP-seq
MIRT1080351	hsa-miR-3167	CLIP-seq
MIRT1080352	hsa-miR-323b-5p	CLIP-seq
MIRT1080353	hsa-miR-450b-5p	CLIP-seq
MIRT1080354	hsa-miR-876-5p	CLIP-seq
MIRT1080355	hsa-miR-216b	CLIP-seq
MIRT740133	hsa-miR-3140-3p	CLIP-seq
MIRT740134	hsa-miR-3143	CLIP-seq
MIRT1080356	hsa-miR-3613-5p	CLIP-seq
MIRT1080357	hsa-miR-3922-5p	CLIP-seq
MIRT1080358	hsa-miR-4260	CLIP-seq
MIRT1080359	hsa-miR-4699-3p	CLIP-seq
MIRT1080360	hsa-miR-4753-5p	CLIP-seq
MIRT740135	hsa-miR-543	CLIP-seq
MIRT1080361	hsa-miR-548c-3p	CLIP-seq
MIRT1080362	hsa-miR-624	CLIP-seq
MIRT1080363	hsa-miR-635	CLIP-seq
MIRT2019977	hsa-miR-3686	CLIP-seq
MIRT2019978	hsa-miR-4652-3p	CLIP-seq
MIRT2555089	hsa-miR-1207-3p	CLIP-seq
MIRT2555090	hsa-miR-129-3p	CLIP-seq
MIRT2555091	hsa-miR-3183	CLIP-seq
MIRT2555092	hsa-miR-320a	CLIP-seq
MIRT2555093	hsa-miR-320b	CLIP-seq
MIRT2555094	hsa-miR-320c	CLIP-seq
MIRT2555095	hsa-miR-320d	CLIP-seq
MIRT2555096	hsa-miR-3671	CLIP-seq
MIRT2555097	hsa-miR-4429	CLIP-seq
MIRT2555098	hsa-miR-4687-5p	CLIP-seq
MIRT2555099	hsa-miR-4723-3p	CLIP-seq
MIRT2555100	hsa-miR-4753-3p	CLIP-seq
MIRT2555089	hsa-miR-1207-3p	CLIP-seq
MIRT2555090	hsa-miR-129-3p	CLIP-seq
MIRT2555091	hsa-miR-3183	CLIP-seq
MIRT2555092	hsa-miR-320a	CLIP-seq
MIRT2555093	hsa-miR-320b	CLIP-seq
MIRT2555094	hsa-miR-320c	CLIP-seq
MIRT2555095	hsa-miR-320d	CLIP-seq
MIRT2555096	hsa-miR-3671	CLIP-seq
MIRT2555097	hsa-miR-4429	CLIP-seq
MIRT2555098	hsa-miR-4687-5p	CLIP-seq
MIRT2555099	hsa-miR-4723-3p	CLIP-seq
MIRT2555100	hsa-miR-4753-3p	CLIP-seq

Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004090	Function	Carbonyl reductase (NADPH) activity	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	17540341
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:0006813	Process	Potassium ion transport	TAS	7499366
GO:0007611	Process	Learning or memory	IEA
GO:0008076	Component	Voltage-gated potassium channel complex	IBA
GO:0008076	Component	Voltage-gated potassium channel complex	IMP	10585425
GO:0008106	Function	Alcohol dehydrogenase (NADP+) activity	IBA
GO:0008106	Function	Alcohol dehydrogenase (NADP+) activity	IEA
GO:0008106	Function	Alcohol dehydrogenase (NADP+) activity	ISS
GO:0009898	Component	Cytoplasmic side of plasma membrane	IDA	17540341
GO:0015459	Function	Potassium channel regulator activity	IBA
GO:0015459	Function	Potassium channel regulator activity	IDA	7890032, 12130714
GO:0015459	Function	Potassium channel regulator activity	TAS	7499366
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0019904	Function	Protein domain specific binding	IPI	10585425
GO:0034705	Component	Potassium channel complex	IDA	12130714
GO:0044224	Component	Juxtaparanode region of axon	IBA
GO:0044325	Function	Transmembrane transporter binding	IBA
GO:0055085	Process	Transmembrane transport	IEA
GO:0070402	Function	NADPH binding	IDA	17540341
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0140678	Function	Molecular function inhibitor activity	IDA	10585425
GO:1901379	Process	Regulation of potassium ion transmembrane transport	IBA
GO:1901379	Process	Regulation of potassium ion transmembrane transport	IDA	7890032
GO:1902259	Process	Regulation of delayed rectifier potassium channel activity	ISS
GO:1903817	Process	Negative regulation of voltage-gated potassium channel activity	IMP	10585425

MIM	HGNC	e!Ensembl
601141	6228	ENSG00000169282

Q14722

Protein name

Voltage-gated potassium channel subunit beta-1 (EC 1.1.1.-) (K(+) channel subunit beta-1) (Kv-beta-1)

Protein function

Regulatory subunit of the voltage-gated potassium (Kv) Shaker channels composed of pore-forming and potassium-conducting alpha subunits and of regulatory beta subunits (PubMed:17156368, PubMed:17540341, PubMed:19713757, PubMed:7499366, PubMed:76

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00248	Aldo_ket_red	103 → 408	Aldo/keto reductase family	Domain

Tissue specificity

TISSUE SPECIFICITY: In brain, expression is most prominent in caudate nucleus, hippocampus and thalamus. Significant expression also detected in amygdala and subthalamic nucleus. Also expressed in both healthy and cardiomyopathic heart. Up to four times m

Sequence

MLAARTGAAGSQISEENTKLRRQSGFSVAGKDKSPKKASENAKDSSLSPSGESQLRARQL
ALLREVEMNWYLKLCDLSSEHTTVCTTGMPHRNLGKSGLRVSCLGLGTWVTFGGQISDEV
AERLMTIAYESGVNLFDTAEVYAAGKAEVILGSIIKKKGWRRSSLVITTKLYWGGKAETE
RGLSRKHIIEGLKGSLQRLQLEYVDVVFANRPDSNTPMEEIVRAMTHVINQGMAMYWGTS
RWSAMEIMEAYSVARQFNMIPPVCEQAEYHLFQREKVEVQLPELYHKIGVGAMTWSPLAC
GIISGKYGNGVPESSRASLKCYQWLKERIVSEEGRKQQNKLKDLSPIAERLGCTLPQLAV
AWCLRNEGVSSVLLGSSTPEQLIENLGAIQVLPKMTSHVVNEIDNILRNKPYSKKDYRS

Sequence length

419

Interactions

View interactions

	Reactome
			Voltage gated Potassium 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 Unknown Diseases (11)

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.
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, TEMPORAL LOBE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTINODULAR GOITER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (13)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Brain Diseases	Brain disease	Pubtator	26544041	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	26708285		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsies, Partial	Epilepsy	BEFREE	21333500		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	26544041		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	26544041, 40142207	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Lateral Temporal	Epilepsy	BEFREE	21333500		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	34616010	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	32233732	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	34616010	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	32233732	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid cancer follicular	Follicular thyroid cancer	Pubtator	24099521	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked infantile spasms	Spasms X-Linked	BEFREE	26544041		★★★★★ ★☆☆☆☆ Found in Text Mining only

KCNAB1 (potassium voltage-gated channel subfamily A regulatory beta subunit 1)