KCNV1 (potassium voltage-gated channel modifier subfamily V member 1)

Gene

• Entrez ID: 27012
• Gene name: Potassium voltage-gated channel modifier subfamily V member 1
• Gene symbol: KCNV1
• Synonyms (NCBI Gene): HNKA, KCNB3, KV2.3, KV8.1
• Chromosome: 8
• Chromosome location: 8q23.2
• Summary: Voltage-gated potassium (Kv) 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, neuro

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1082517	hsa-miR-325	CLIP-seq
MIRT1082518	hsa-miR-3942-5p	CLIP-seq
MIRT1082519	hsa-miR-411	CLIP-seq
MIRT1082520	hsa-miR-4699-3p	CLIP-seq
MIRT1082521	hsa-miR-4703-5p	CLIP-seq
MIRT1082522	hsa-miR-518a-5p	CLIP-seq
MIRT1082523	hsa-miR-527	CLIP-seq
MIRT1082524	hsa-miR-561	CLIP-seq
MIRT1082525	hsa-miR-628-3p	CLIP-seq
MIRT1082520	hsa-miR-4699-3p	CLIP-seq
MIRT1082524	hsa-miR-561	CLIP-seq
MIRT1082522	hsa-miR-518a-5p	CLIP-seq
MIRT1082523	hsa-miR-527	CLIP-seq
MIRT1082524	hsa-miR-561	CLIP-seq
MIRT2252259	hsa-miR-4768-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001508	Process	Action potential	IBA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IEA
GO:0005267	Function	Potassium channel activity	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8670833
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0006813	Process	Potassium ion transport	TAS	8670833
GO:0008076	Component	Voltage-gated potassium channel complex	IBA
GO:0008076	Component	Voltage-gated potassium channel complex	IEA
GO:0008200	Function	Ion channel inhibitor activity	TAS	8670833
GO:0015459	Function	Potassium channel regulator activity	IBA
GO:0015459	Function	Potassium channel regulator activity	TAS	8670833
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0045171	Component	Intercellular bridge	IDA
GO:0051260	Process	Protein homooligomerization	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0071805	Process	Potassium ion transmembrane transport	IEA

Other IDs

• MIM: 608164
• HGNC: 18861
• e!Ensembl: ENSG00000164794

Protein

• UniProt ID: Q6PIU1
• Protein name: Potassium voltage-gated channel subfamily V member 1 (Neuronal potassium channel alpha subunit HNKA) (Voltage-gated potassium channel subunit Kv8.1)
• Protein function: Potassium channel subunit that does not form functional channels by itself. Modulates KCNB1 and KCNB2 channel activity by shifting the threshold for inactivation to more negative values and by slowing the rate of inactivation. Can down-regulate
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02214	BTB_2	41 → 150	BTB/POZ domain	Domain
  PF00520	Ion_trans	209 → 437	Ion transport protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected in brain. {ECO:0000269|PubMed:12383276}.
• Sequence:

  MPSSGRALLDSPLDSGSLTSLDSSVFCSEGEGEPLALGDCFTVNVGGSRFVLSQQALSCF
  PHTRLGKLAVVVASYRRPGALAAVPSPLELCDDANPVDNEYFFDRSSQAFRYVLHYYRTG
  RLHVMEQLCALSFLQEIQYWGIDELSIDSCCRDRYFRRKELSETLDFKKDTEDQESQHES
  EQDFSQGPCPTVRQKLWNILEKPGSSTAARIFGVISIIFVVVSIINMALMSAELSWLDLQ
  LLEILEYVCISWFTGEFVLRFLCVRDRCRFLRKVPNIIDLLAILPFYITLLVESLSGSQT
  TQELENVGRIVQVLRLLRALRMLKLGRHSTGLRSLGMTITQCYEEVGLLLLFLSVGISIF
  STVEYFAEQSIPDTTFTSVPCAWWWATTSMTTVGYGDIRPDTTTGKIVAFMCILSGILVL
  ALPIAIINDRFSACYFTLKLKEAAVRQREALKKLTKNIATDSYISVNLRDVYARSIMEML
  RLKGRERASTRSSGGDDFWF

• Sequence length: 500

Pathways

Reactome:

Voltage gated Potassium channels

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	22529986	Associate	★☆☆☆☆ Found in Text Mining only