• Gene id: 3750

Gene Summary

• Gene Symbol: KCND1   Gene   UCSC   Ensembl
• Aliases: KV4.1
• Gene name: potassium voltage-gated channel subfamily D member 1
• Alternate names: potassium voltage-gated channel subfamily D member 1, Shal-type potassium channel, potassium channel, voltage gated Shal related subfamily D, member 1, potassium voltage-gated channel, Shal-related subfamily, member 1, voltage-gated potassium channel subunit ,
• Gene location: Xp11.23 (48972102: 48960982)     Exons: 7     NC_000023.11
• Gene summary(Entrez): This gene encodes a multipass membrane protein that comprises the pore subunit of the voltage-gated A-type potassium channel, which functions in the repolarization of membrane action potentials. Activity of voltage-gated potassium channels is important in
• OMIM: 300281

SNPs

rs4541736

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.40722258C>A
NC_000006.12   g.40722258C>G
NC_000006.12   g.40722258C>T
NC_000006.11   g.40689997C>A
NC_000006.11   g.40689997C>G
NC_000006.11   g.40689997C>T|SEQ=[C/A/G/T]|GENE=LOC105375052

Protein Summary

• Protein general information: Q9NSA2  
  • Name: Potassium voltage gated channel subfamily D member 1 (Voltage gated potassium channel subunit Kv4.1)
  • Length: 647  
  • Mass: 71330
  • Tissue specificity: Widely expressed. Highly expressed in brain, in particular in cerebellum and thalamus; detected at lower levels in the other parts of the brain. {ECO
• Sequence:

  MAAGLATWLPFARAAAVGWLPLAQQPLPPAPGVKASRGDEVLVVNVSGRRFETWKNTLDRYPDTLLGSSEKEFFY
  DADSGEYFFDRDPDMFRHVLNFYRTGRLHCPRQECIQAFDEELAFYGLVPELVGDCCLEEYRDRKKENAERLAED
  EEAEQAGDGPALPAGSSLRQRLWRAFENPHTSTAALVFYYVTGFFIAVSVIANVVETIPCRGSARRSSREQPCGE
  RFPQAFFCMDTACVLIFTGEYLLRLFAAPSRCRFLRSVMSLIDVVAILPYYIGLLVPKNDDVSGAFVTLRVFRVF
  RIFKFSRHSQGLRILGYTLKSCASELGFLLFSLTMAIIIFATVMFYAEKGTNKTNFTSIPAAFWYTIVTMTTLGY
  GDMVPSTIAGKIFGSICSLSGVLVIALPVPVIVSNFSRIYHQNQRADKRRAQQKVRLARIRLAKSGTTNAFLQYK
  QNGGLEDSGSGEEQALCVRNRSAFEQQHHHLLHCLEKTTCHEFTDELTFSEALGAVSPGGRTSRSTSVSSQPVGP
  GSLLSSCCPRRAKRRAIRLANSTASVSRGSMQELDMLAGLRRSHAPQSRSSLNAKPHDSLDLNCDSRDFVAAIIS
  IPTPPANTPDESQPSSPGGGGRAGSTLRNSSLGTPCLFPETVKISSL

• Structural information:
  • Interpro: IPR000210  IPR005821  IPR003968  IPR003975  IPR004054   IPR024587  IPR021645  IPR011333  IPR003131  IPR028325  IPR027359  
  • STRING: ENSP00000218176
• Other Databases: GeneCards:  KCND1  Malacards:  KCND1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005249	voltage-gated potassium channel activity	IBA	molecular function
GO:0008076	voltage-gated potassium channel complex	IBA	cellular component
GO:0016021	integral component of membrane	IBA	cellular component
GO:0071805	potassium ion transmembrane transport	IBA	biological process
GO:0005250	A-type (transient outward) potassium channel activity	IBA	molecular function
GO:0005216	ion channel activity	IEA	molecular function
GO:0005249	voltage-gated potassium channel activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0006813	potassium ion transport	IEA	biological process
GO:0008076	voltage-gated potassium channel complex	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0051260	protein homooligomerization	IEA	biological process
GO:0055085	transmembrane transport	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005267	potassium channel activity	IEA	molecular function
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0006813	potassium ion transport	IEA	biological process
GO:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0061337	cardiac conduction	TAS	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0005575	cellular_component	ND	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)