KCNF1 (potassium voltage-gated channel modifier subfamily F member 1)

Gene

• Entrez ID: 3754
• Gene name: Potassium voltage-gated channel modifier subfamily F member 1
• Gene symbol: KCNF1
• Synonyms (NCBI Gene): IK8, KCNF, KV5.1, kH1
• Chromosome: 2
• Chromosome location: 2p25.1
• 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
MIRT029975	hsa-miR-26b-5p	Microarray	19088304
MIRT1080942	hsa-miR-1237	CLIP-seq
MIRT1080943	hsa-miR-129-3p	CLIP-seq
MIRT1080944	hsa-miR-3182	CLIP-seq
MIRT1080945	hsa-miR-4436a	CLIP-seq
MIRT1080946	hsa-miR-4700-3p	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:0005515	Function	Protein binding	IPI	32296183
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	ISS
GO:0006813	Process	Potassium ion transport	TAS	9434767
GO:0008076	Component	Voltage-gated potassium channel complex	IBA
GO:0008076	Component	Voltage-gated potassium channel complex	IEA
GO:0008076	Component	Voltage-gated potassium channel complex	ISS
GO:0015459	Function	Potassium channel regulator activity	IBA
GO:0015459	Function	Potassium channel regulator activity	IEA
GO:0015459	Function	Potassium channel regulator activity	ISS
GO:0015459	Function	Potassium channel regulator activity	TAS	9434767
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:0043266	Process	Regulation of potassium ion transport	IEA
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
GO:0097546	Component	Ciliary base	IEA
GO:1905515	Process	Non-motile cilium assembly	IEA

Other IDs

• MIM: 603787
• HGNC: 6246
• e!Ensembl: ENSG00000162975

Protein

• UniProt ID: Q9H3M0
• Protein name: Voltage-gated potassium channel regulatory subunit KCNF1 (Potassium voltage-gated channel subfamily F member 1) (Voltage-gated potassium channel subunit Kv5.1) (kH1)
• Protein function: Regulatory alpha-subunit of the voltage-gated potassium (Kv) channel which, when coassembled with KCNB1 or KCNB2, can modulate their expression and their gating kinetics by acting on deactivation upon repolarization and inactivation during maint
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02214	BTB_2	25 → 126	BTB/POZ domain	Domain
  PF00520	Ion_trans	181 → 417	Ion transport protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected in heart, brain, liver, skeletal muscle, kidney and pancreas.
• Sequence:

  MDGSGERSLPEPGSQSSAASDDIEIVVNVGGVRQVLYGDLLSQYPETRLAELINCLAGGY
  DTIFSLCDDYDPGKREFYFDRDPDAFKCVIEVYYFGEVHMKKGICPICFKNEMDFWKVDL
  KFLDDCCKSHLSEKREELEEIARRVQLILDDLGVDAAEGRWRRCQKCVWKFLEKPESSCP
  ARVVAVLSFLLILVSSVVMCMGTIPELQVLDAEGNRVEHPTLENVETACIGWFTLEYLLR
  LFSSPNKLHFALSFMNIVDVLAILPFYVSLTLTHLGARMMELTNVQQAVQALRIMRIARI
  FKLARHSSGLQTLTYALKRSFKELGLLLMYLAVGIFVFSALGYTMEQSHPETLFKSIPQS
  FWWAIITMTTVGYGDIYPKTTLGKLNAAISFLCGVIAIALPIHPIINNFVRYYNKQRVLE
  TAAKHELELMELNSSSGGEGKTGGSRSDLDNLPPEPAGKEAPSCSSRLKLSHSDTFIPLL
  TEEKHHRTRLQSCK

• Sequence length: 494

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Moyamoya angiopathy	Likely pathogenic	rs1661571229	RCV004704509	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC ULCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL OR BEHAVIOURAL DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULAR HYPOTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	36397112	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	9892693	Associate	★☆☆☆☆ Found in Text Mining only