KCNAB1

Summary

KCNAB1 (potassium voltage-gated channel subfamily A regulatory beta subunit 1, HGNC:6228) is a protein-coding gene on chromosome 3q25.31, encoding Voltage-gated potassium channel subunit beta-1 (Q14722). Regulatory subunit of the voltage-gated potassium (Kv) Shaker channels composed of pore-forming and potassium-conducting alpha subunits and of regulatory beta subunits.

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, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member includes distinct isoforms which are encoded by alternatively spliced transcript variants of this gene. Some of these isoforms are beta subunits, which form heteromultimeric complexes with alpha subunits and modulate the activity of the pore-forming alpha subunits.

Source: NCBI Gene 7881 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 46 total
• Druggable target: yes
• MANE Select transcript: NM_172160

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6228
Approved symbol	KCNAB1
Name	potassium voltage-gated channel subfamily A regulatory beta subunit 1
Location	3q25.31
Locus type	gene with protein product
Status	Approved
Aliases	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3
Ensembl gene	ENSG00000169282
Ensembl biotype	protein_coding
OMIM	601141
Entrez	7881

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 7 protein_coding, 5 protein_coding_CDS_not_defined, 1 retained_intron, 1 nonsense_mediated_decay

ENST00000302490, ENST00000389634, ENST00000389636, ENST00000461717, ENST00000471742, ENST00000472028, ENST00000475456, ENST00000476362, ENST00000477912, ENST00000478609, ENST00000489036, ENST00000490337, ENST00000496923, ENST00000497291

RefSeq mRNA: 5 — MANE Select: NM_172160 NM_001308217, NM_001308222, NM_003471, NM_172159, NM_172160

CCDS: CCDS3174, CCDS3175, CCDS33882, CCDS77844, CCDS77845

Canonical transcript exons

ENST00000490337 — 14 exons

Exon	Start	End
ENSE00001301342	156120578	156120886
ENSE00001885049	156536658	156538605
ENSE00003464167	156459827	156459871
ENSE00003543295	156516270	156516364
ENSE00003555591	156465643	156465686
ENSE00003561576	156523827	156523947
ENSE00003576192	156452899	156452936
ENSE00003583747	156531409	156531497
ENSE00003591385	156457453	156457532
ENSE00003637137	156474734	156474820
ENSE00003658830	156421616	156421659
ENSE00003674873	156463702	156463746
ENSE00003674951	156514364	156514449
ENSE00003694529	156515100	156515220

Expression profiles

Bgee: expression breadth ubiquitous, 263 present calls, max score 98.38.

FANTOM5 (CAGE): breadth broad, TPM avg 3.7801 / max 307.1838, expressed in 357 samples.

FANTOM5 promoters (18 alternative TSS)

Promoter ID	TPM avg	Samples expressed
39411	1.1092	127
39423	0.9580	233
39419	0.2796	107
39417	0.2717	100
39409	0.1758	76
39421	0.1586	92
39418	0.1227	75
39408	0.0903	38
39412	0.0817	40
39422	0.0806	50

Top tissues by expression

287 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
blood vessel layer	UBERON:0004797	98.38	gold quality
lateral globus pallidus	UBERON:0002476	97.64	gold quality
popliteal artery	UBERON:0002250	97.08	gold quality
tibial artery	UBERON:0007610	97.08	gold quality
urethra	UBERON:0000057	96.06	gold quality
putamen	UBERON:0001874	95.67	gold quality
caudate nucleus	UBERON:0001873	94.98	gold quality
saphenous vein	UBERON:0007318	94.98	gold quality
Brodmann (1909) area 23	UBERON:0013554	94.86	gold quality
CA1 field of hippocampus	UBERON:0003881	94.74	gold quality
nucleus accumbens	UBERON:0001882	93.71	gold quality
cauda epididymis	UBERON:0004360	92.92	gold quality
corpus epididymis	UBERON:0004359	92.85	gold quality
right coronary artery	UBERON:0001625	92.53	gold quality
aorta	UBERON:0000947	91.82	gold quality
cerebellar vermis	UBERON:0004720	91.56	gold quality
seminal vesicle	UBERON:0000998	91.29	gold quality
Ammon’s horn	UBERON:0001954	90.75	gold quality
coronary artery	UBERON:0001621	90.45	gold quality
superficial temporal artery	UBERON:0001614	90.42	gold quality
left coronary artery	UBERON:0001626	90.37	gold quality
entorhinal cortex	UBERON:0002728	90.36	gold quality
superior frontal gyrus	UBERON:0002661	90.33	gold quality
orbitofrontal cortex	UBERON:0004167	90.20	gold quality
postcentral gyrus	UBERON:0002581	90.10	gold quality
parietal lobe	UBERON:0001872	90.01	gold quality
telencephalon	UBERON:0001893	89.98	gold quality
prefrontal cortex	UBERON:0000451	89.94	gold quality
primary visual cortex	UBERON:0002436	89.82	gold quality
occipital lobe	UBERON:0002021	89.65	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-HCAD-25	yes	35.29
E-CURD-119	yes	11.99
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

125 targeting KCNAB1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-520G-5P	99.99	66.76	658
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-552-5P	99.93	68.56	1583
HSA-MIR-22-3P	99.93	68.13	917
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-130A-3P	99.90	73.31	1861
HSA-MIR-130B-3P	99.90	73.27	1850
HSA-MIR-301A-3P	99.90	73.15	1839
HSA-MIR-301B-3P	99.90	73.19	1836
HSA-MIR-3666	99.90	73.24	1833
HSA-MIR-4295	99.90	73.11	1838
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-4671-3P	99.88	72.46	1045
HSA-MIR-3140-3P	99.88	68.47	2069

Literature-anchored findings (GeneRIF, showing 7)

• Double-mutant cycle analysis indicates that R5 of Kvbeta1.3 interacts with A501 and T480 of Kv1.5, residues located deep within the pore of the channel. (PMID:18987637)
• These results support KCNAB1 as a susceptibility gene for lateral temporal epilepsy , in agreement with previous studies showing that this gene may alter susceptibility to focal epilepsy. (PMID:21333500)
• Protein kinase C inhibition results in a Kv 1.5 and Kv beta 1.3 pharmacology closer to Kv 1.5 channels (PMID:24946104)
• Genetic variations of KCNAB1 and CRYAA are associated with age-related nuclear cataract. (PMID:24951543)
• The potassium channel subunit Kvbeta1 serves as a major control point for synaptic facilitation. (PMID:33168717)
• KV1.5-KVbeta1.3 Recycling Is PKC-Dependent. (PMID:33572906)
• Bevacizumab-induced hypertension and proteinuria: a genome-wide study of more than 1000 patients. (PMID:34616010)

Cross-species orthologs

12 orthologs

Organism	Symbol	Gene ID
danio_rerio	kcnab1a	ENSDARG00000008140
danio_rerio	kcnab1b	ENSDARG00000040741
mus_musculus	Kcnab1	ENSMUSG00000027827
rattus_norvegicus	Kcnab1	ENSRNOG00000056697
drosophila_melanogaster	CG18547	FBGN0037973
drosophila_melanogaster	CG3397	FBGN0037975
caenorhabditis_elegans		WBGENE00003176
caenorhabditis_elegans		WBGENE00009980
caenorhabditis_elegans		WBGENE00009981
caenorhabditis_elegans		WBGENE00012722
caenorhabditis_elegans		WBGENE00012723
caenorhabditis_elegans		WBGENE00015307

Paralogs (16): AKR7A2 (ENSG00000053371), KCNAB2 (ENSG00000069424), AKR1B1 (ENSG00000085662), AKR1A1 (ENSG00000117448), AKR1D1 (ENSG00000122787), AKR1C2 (ENSG00000151632), AKR7A3 (ENSG00000162482), AKR1E2 (ENSG00000165568), KCNAB3 (ENSG00000170049), AKR1C1 (ENSG00000187134), AKR1C3 (ENSG00000196139), AKR1B10 (ENSG00000198074), AKR1C4 (ENSG00000198610), AKR7L (ENSG00000211454), AKR1B15 (ENSG00000227471), AKR1C8 (ENSG00000264006)

Protein

Protein identifiers

Voltage-gated potassium channel subunit beta-1 — Q14722 (reviewed: Q14722)

Alternative names: K(+) channel subunit beta-1, Kv-beta-1

All UniProt accessions (6): Q14722, B7Z8E5, C9JBV8, C9JQ60, F8W6W4, H7C4S9

UniProt curated annotations — full annotation on UniProt →

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. The beta-1/KCNAB1 cytoplasmic subunit mediates closure of delayed rectifier potassium channels by physically obstructing the pore via its N-terminal domain and increases the speed of channel closure for other family members. Promotes the inactivation of Kv1.1/KCNA1, Kv1.2/KCNA2, Kv1.4/KCNA4, Kv1.5/KCNA5 and Kv1.6/KCNA6 alpha subunit-containing channels. Displays nicotinamide adenine dinucleotide phosphate (NADPH)-dependent aldoketoreductase activity by catalyzing the NADPH-dependent reduction of a variety of endogenous aldehydes and ketones. The binding of NADPH is required for efficient down-regulation of potassium channel activity. Oxidation of the bound NADPH restrains N-terminal domain from blocking the channel, thereby decreasing N-type inactivation of potassium channel activity. Isoform KvB1.2 shows no effect on KCNA1, KCNA2 or KCNB1.

Subunit / interactions. Homotetramer. Interaction with tetrameric potassium channel alpha subunits gives rise to a heterooctamer. Identified in potassium channel complexes containing KCNA1, KCNA2, KCNA4, KCNA5, KCNA6, KCNAB1 and KCNAB2. Part of a complex containing KCNA1, KCNA4 and LGI1; interaction with LGI1 inhibits down-regulation of KCNA1 channel activity. Interacts with the dimer formed by GNB1 and GNG2; this enhances KCNA1 binding. Interacts with SQSTM1.

Subcellular location. Cytoplasm. Membrane. Cell membrane.

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 more abundant in left ventricle than left atrium.

Domain organisation. The N-terminal domain of the beta subunit mediates closure of delayed rectifier potassium channels by physically obstructing the pore.

Similarity. Belongs to the shaker potassium channel beta subunit family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q14722-1	KvB1.3	yes
Q14722-2	KvB1.1
Q14722-3	KvB1.2

RefSeq proteins (5): NP_001295146, NP_001295151, NP_003462, NP_751891, NP_751892* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR005399	K_chnl_volt-dep_bsu_KCNAB-rel	Family
IPR005400	K_chnl_volt-dep_bsu_KCNAB1	Family
IPR005983	K_chnl_volt-dep_bsu_KCNAB	Family
IPR023210	NADP_OxRdtase_dom	Domain
IPR036812	NAD(P)_OxRdtase_dom_sf	Homologous_superfamily

Pfam: PF00248

Catalyzed reactions (Rhea), 2 shown:

• a primary alcohol + NADP(+) = an aldehyde + NADPH + H(+) (RHEA:15937)
• a secondary alcohol + NADP(+) = a ketone + NADPH + H(+) (RHEA:19257)

UniProt features (31 total): binding site 21, splice variant 2, mutagenesis site 2, sequence conflict 2, chain 1, region of interest 1, compositionally biased region 1, active site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q14722-F1	87.13	0.72

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 142 (proton donor/acceptor)

Ligand- & substrate-binding residues (21): 241; 266; 295; 296; 297; 298; 299; 300; 306; 316; 375; 377 …

Mutagenesis-validated functional residues (2):

Position	Phenotype
307	reduces affinity for nadph.
316	nearly abolishes nadph binding.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-1296072	Voltage gated Potassium channels
R-HSA-112316	Neuronal System
R-HSA-1296071	Potassium Channels

MSigDB gene sets: 241 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_DN, GOBP_POTASSIUM_ION_TRANSPORT, MODY_HIPPOCAMPUS_POSTNATAL, BENPORATH_ES_WITH_H3K27ME3, GOBP_COGNITION, GRUETZMANN_PANCREATIC_CANCER_DN, GOBP_BEHAVIOR, REACTOME_VOLTAGE_GATED_POTASSIUM_CHANNELS, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, YAO_HOXA10_TARGETS_VIA_PROGESTERONE_UP, REACTOME_POTASSIUM_CHANNELS, LFA1_Q6, MODULE_45, MODULE_16, BONCI_TARGETS_OF_MIR15A_AND_MIR16_1

GO Biological Process (9): potassium ion transport (GO:0006813), learning or memory (GO:0007611), potassium ion transmembrane transport (GO:0071805), regulation of potassium ion transmembrane transport (GO:1901379), monoatomic ion transport (GO:0006811), monoatomic ion transmembrane transport (GO:0034220), transmembrane transport (GO:0055085), regulation of delayed rectifier potassium channel activity (GO:1902259), negative regulation of voltage-gated potassium channel activity (GO:1903817)

GO Molecular Function (10): carbonyl reductase (NADPH) activity (GO:0004090), voltage-gated potassium channel activity (GO:0005249), alcohol dehydrogenase (NADP+) activity (GO:0008106), potassium channel regulator activity (GO:0015459), protein domain specific binding (GO:0019904), transmembrane transporter binding (GO:0044325), NADPH binding (GO:0070402), molecular function inhibitor activity (GO:0140678), protein binding (GO:0005515), oxidoreductase activity (GO:0016491)

GO Cellular Component (8): cytosol (GO:0005829), plasma membrane (GO:0005886), voltage-gated potassium channel complex (GO:0008076), cytoplasmic side of plasma membrane (GO:0009898), potassium channel complex (GO:0034705), juxtaparanode region of axon (GO:0044224), cytoplasm (GO:0005737), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Potassium Channels	1
Neuronal System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
transport	2
potassium channel activity	2
protein binding	2
metal ion transport	1
behavior	1
cognition	1
potassium ion transport	1
monoatomic cation transmembrane transport	1
regulation of potassium ion transport	1
potassium ion transmembrane transport	1
regulation of monoatomic cation transmembrane transport	1
monoatomic ion transport	1
transmembrane transport	1
cellular process	1
delayed rectifier potassium channel activity	1
regulation of transmembrane transporter activity	1
voltage-gated potassium channel activity	1
negative regulation of potassium ion transmembrane transporter activity	1
alcohol dehydrogenase (NADP+) activity	1
voltage-gated monoatomic cation channel activity	1
alcohol dehydrogenase [NAD(P)+] activity	1
ion channel regulator activity	1
anion binding	1
NADP binding	1
molecular function regulator activity	1
binding	1
catalytic activity	1
cytoplasm	1
membrane	1
cell periphery	1
potassium channel complex	1
plasma membrane protein complex	1
plasma membrane	1
cytoplasmic side of membrane	1
cation channel complex	1
main axon	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1905 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KCNAB1	KCNA1	Q09470	987
KCNAB1	KCNA4	P22459	962
KCNAB1	KCNA5	P22460	950
KCNAB1	KCNA2	P16389	923
KCNAB1	LGI1	O95970	884
KCNAB1	KCNA3	P22001	849
KCNAB1	KCNC1	P48547	777
KCNAB1	KCNV1	Q6PIU1	746
KCNAB1	KCNA6	P17658	737
KCNAB1	KCNB1	Q14721	664
KCNAB1	FLNB	O75369	653
KCNAB1	KCND2	Q9NZV8	625
KCNAB1	KCND3	Q9UK17	615
KCNAB1	KCNS3	Q9BQ31	567
KCNAB1	DLG3	Q92796	553

IntAct

15 interactions, top by confidence:

A	B	Type	Score
ANKRD44	PPP6C	psi-mi:“MI:0914”(association)	0.790
KCNAB1	KCNAB2	psi-mi:“MI:0915”(physical association)	0.560
KCNA2	FADS1	psi-mi:“MI:0914”(association)	0.530
KCNAB1	SRPK1	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
ARRB2		psi-mi:“MI:0914”(association)	0.350
	EIF3F	psi-mi:“MI:0914”(association)	0.350
	DDX3X	psi-mi:“MI:0914”(association)	0.350
EPHX4	CCN2	psi-mi:“MI:0914”(association)	0.350
KCNA5	KCNA6	psi-mi:“MI:0914”(association)	0.350
KCNAB2	LONP1	psi-mi:“MI:0914”(association)	0.350
MAB21L3	AHCYL1	psi-mi:“MI:0914”(association)	0.350
RRS1	ZNF316	psi-mi:“MI:0914”(association)	0.350
SLC35F6	SERPINA1	psi-mi:“MI:0914”(association)	0.350
UROD	C3	psi-mi:“MI:0914”(association)	0.350

BioGRID (23): KCNAB1 (Affinity Capture-MS), ATIC (Co-fractionation), KCNAB1 (Reconstituted Complex), KCNAB2 (Affinity Capture-MS), KCNAB1 (Biochemical Activity), KCNAB1 (Affinity Capture-MS), KCNAB1 (Affinity Capture-Western), KCNAB2 (Affinity Capture-MS), KCNAB1 (Cross-Linking-MS (XL-MS)), KCNAB1 (Cross-Linking-MS (XL-MS)), KCNAB1 (Co-fractionation), KCNAB1 (Co-fractionation), KCNAB1 (Affinity Capture-RNA), KCNAB1 (Biochemical Activity), KCNAB1 (Reconstituted Complex)

ESM2 similar proteins: A0A2R8QFQ6, A0A2R8RWN9, D3Z7P3, E9PV86, G3MWR8, O54865, O60907, O89050, O94925, P13264, P16068, P20595, P58058, Q02153, Q08211, Q12800, Q13042, Q14722, Q28141, Q28D01, Q3MHJ2, Q3ULA2, Q4R8H1, Q4ZHR9, Q5R874, Q5RB35, Q5SP67, Q5SRY7, Q5ZHN3, Q6DN14, Q7RTP6, Q7T2U9, Q7Z6J6, Q8BTG7, Q8C6G8, Q8CJ19, Q8K4Q0, Q8N122, Q8N2K0, Q8R349

Diamond homologs: A0A0U5GHU6, B9WYE6, C7ZBE5, C8VQ93, E9FCP6, G2TRN6, M2YMU7, O05408, O43448, O59826, P40690, P43547, P54569, P63143, P63144, P77256, P77735, Q01333, Q01752, Q02895, Q13303, Q14722, Q28528, Q3L181, Q4PJK1, Q75ZG2, Q75ZG3, Q9P7U2, Q9PTM4, Q9PWR1, Q9XT31, A2XRZ0, B8ASB2, C6TBN2, F4HPY8, M2YJQ2, O22707, O23016, O43488, O95154

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

46 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	27
Likely benign	1
Benign	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

3295 predictions. Top by Δscore:

Variant	Effect	Δscore
3:156457447:TTGCA:T	acceptor_loss	1.0000
3:156457448:TGCA:T	acceptor_loss	1.0000
3:156457449:GCAG:G	acceptor_loss	1.0000
3:156457450:CAG:C	acceptor_loss	1.0000
3:156457451:A:AC	acceptor_loss	1.0000
3:156457451:A:AG	acceptor_gain	1.0000
3:156457451:AG:A	acceptor_gain	1.0000
3:156457451:AGGTT:A	acceptor_gain	1.0000
3:156457452:G:GT	acceptor_gain	1.0000
3:156457452:GG:G	acceptor_gain	1.0000
3:156457452:GGT:G	acceptor_gain	1.0000
3:156457452:GGTT:G	acceptor_gain	1.0000
3:156457452:GGTTG:G	acceptor_gain	1.0000
3:156457528:GGAAA:G	donor_gain	1.0000
3:156457529:GAAA:G	donor_gain	1.0000
3:156457529:GAAAG:G	donor_gain	1.0000
3:156457530:A:T	donor_gain	1.0000
3:156457530:AAAG:A	donor_loss	1.0000
3:156457531:AA:A	donor_gain	1.0000
3:156457532:AGTA:A	donor_loss	1.0000
3:156457533:G:GG	donor_gain	1.0000
3:156457534:T:G	donor_loss	1.0000
3:156457537:G:GG	donor_gain	1.0000
3:156459869:G:GT	donor_gain	1.0000
3:156514362:A:AG	acceptor_gain	1.0000
3:156514363:G:GG	acceptor_gain	1.0000
3:156514363:GAA:G	acceptor_gain	1.0000
3:156523823:CCAG:C	acceptor_loss	1.0000
3:156523825:A:AG	acceptor_gain	1.0000
3:156523825:AGT:A	acceptor_gain	1.0000

AlphaMissense

2716 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:156421624:G:A	G95E	1.000
3:156421624:G:T	G95V	1.000
3:156421633:G:A	G98E	1.000
3:156421659:G:A	G107R	1.000
3:156421659:G:C	G107R	1.000
3:156452899:G:A	G107E	1.000
3:156452904:T:A	W109R	1.000
3:156452904:T:C	W109R	1.000
3:156457478:C:A	A128D	1.000
3:156457499:T:C	L135P	1.000
3:156457502:T:C	F136S	1.000
3:156457504:G:C	D137H	1.000
3:156457504:G:T	D137Y	1.000
3:156457505:A:C	D137A	1.000
3:156457505:A:G	D137G	1.000
3:156457505:A:T	D137V	1.000
3:156457510:G:C	A139P	1.000
3:156457511:C:A	A139D	1.000
3:156459843:G:T	G152W	1.000
3:156459844:G:A	G152E	1.000
3:156459867:T:A	W160R	1.000
3:156459867:T:C	W160R	1.000
3:156463716:T:A	V166D	1.000
3:156463727:A:G	K170E	1.000
3:156463728:A:T	K170I	1.000
3:156463729:A:C	K170N	1.000
3:156463729:A:T	K170N	1.000
3:156465659:G:A	G182R	1.000
3:156465659:G:C	G182R	1.000
3:156465660:G:A	G182E	1.000

dbSNP variants (sampled 300 via entrez): RS1000001172 (3:156180354 A>G), RS1000015642 (3:156489022 G>A), RS1000025825 (3:156433455 A>G), RS1000034209 (3:156205768 A>G), RS1000034794 (3:156201365 C>T), RS1000036568 (3:156134682 T>C), RS1000050775 (3:156422440 C>T), RS1000050968 (3:156128044 G>A,C), RS1000059316 (3:156428787 A>G), RS1000067237 (3:156122465 A>G), RS1000072292 (3:156394047 A>G), RS1000073000 (3:156518375 G>A,C), RS1000097025 (3:156219989 T>C), RS1000117224 (3:156177229 G>A), RS1000118655 (3:156536219 A>G)

Disease associations

OMIM: gene MIM:601141 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST000096_10	Aging traits	8.000000e-06
GCST002498_10	Age-related nuclear cataracts	1.000000e-08
GCST003470_2	Coronary artery disease	3.000000e-10
GCST007350_1	Focal epilepsy (with hippocampal sclerosis)	1.000000e-11
GCST008363_35	Offspring birth weight	2.000000e-25
GCST90026609_1	Bevacizumab-induced hypertension	4.000000e-06

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0022597	aging
EFO:0004344	birth weight
EFO:0005939	parental genotype effect measurement
EFO:0005943	response to bevacizumab

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL3988636 (PROTEIN COMPLEX), CHEMBL5884 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs6770663	Toxicity	3	bevacizumab	Hypertension

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs6770663	KCNAB1	3	3.25	1	bevacizumab

ChEMBL bioactivities

1 potent at pChembl≥5 of 12 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.05	EC50	8900	nM	CHEMBL259345

PubChem BioAssay actives

1 with measured affinity, of 11 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
5-bromo-5-nitro-2-phenyl-1,3-dioxane	323749: Inhibition of Kv1.1/Kvbeta1 N terminal chimera channel inactivation expressed in xenopus oocytes by voltage clamp assay	ec50	8.9000	uM

CTD chemical–gene interactions

33 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases mutagenesis, affects expression, affects methylation, increases methylation	4
bisphenol A	affects cotreatment, decreases expression, affects methylation	2
entinostat	decreases expression, affects cotreatment	2
Nickel	decreases expression	2
Valproic Acid	increases expression	2
Aflatoxin B1	increases methylation	2
aristolochic acid I	increases expression	1
triphenyl phosphate	affects expression	1
lead acetate	affects cotreatment, decreases expression	1
methylselenic acid	increases expression	1
zinc protoporphyrin	decreases expression, affects cotreatment	1
sodium arsenite	increases expression	1
tetrabromobisphenol A	increases expression	1
benzo(e)pyrene	affects methylation	1
aflatoxin B2	increases methylation	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	decreases expression	1
Fulvestrant	affects cotreatment, affects methylation	1
Cadmium	increases abundance, increases expression	1
Cisplatin	decreases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Lipopolysaccharides	affects response to substance, increases expression	1
Methapyrilene	affects methylation	1
Oxygen	decreases expression	1
Polychlorinated Biphenyls	affects expression	1
Tobacco Smoke Pollution	increases expression	1

ChEMBL screening assays

7 unique, capped per target: 7 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1227483	Binding	Activation of KV1.1/Kvbeta1 chimera deficient in conserved AKR core domain and containing N-type inactivation gate from Kvbeta1 expressed in Xenopus laevis oocytes assessed as increase in steady state current normalized to initial inactivat	Cortisone dissociates the Shaker family K+ channels from their beta subunits. — Nat Chem Biol

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.