• Gene id: 30820

Gene Summary

• Gene Symbol: KCNIP1   Gene   UCSC   Ensembl
• Aliases: KCHIP1, VABP
• Gene name: potassium voltage-gated channel interacting protein 1
• Alternate names: Kv channel-interacting protein 1, A-type potassium channel modulatory protein 1, Kv channel interacting protein 1, potassium channel interacting protein 1, vesicle APC-binding protein,
• Gene location: 5q35.1 (170353054: 170736631)     Exons: 14     NC_000005.10
• Gene summary(Entrez): This gene encodes a member of the family of cytosolic voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belong to the neuronal calcium sensor (NCS) family of the calcium binding EF-hand proteins. They associate with Kv4 alpha subun
• OMIM: 608973

Protein Summary

• Protein general information: Q9NZI2  
  • Name: Kv channel interacting protein 1 (KChIP1) (A type potassium channel modulatory protein 1) (Potassium channel interacting protein 1) (Vesicle APC binding protein)
  • Length: 227  
  • Mass: 26817
  • Tissue specificity: Isoform 1 and isoform 2 are expressed in brain and kidney. Isoform 1 is also expressed in liver, pancreas, skeletal muscle, small intestine and testis. Isoform 2 is also expressed in lung, pancreas, leukocytes, prostate and thymus.
• Sequence:

  MGAVMGTFSSLQTKQRRPSKDIAWWYYQYQRDKIEDELEMTMVCHRPEGLEQLEAQTNFTKRELQVLYRGFKNEC
  PSGVVNEDTFKQIYAQFFPHGDASTYAHYLFNAFDTTQTGSVKFEDFVTALSILLRGTVHEKLRWTFNLYDINKD
  GYINKEEMMDIVKAIYDMMGKYTYPVLKEDTPRQHVDVFFQKMDKNKDGIVTLDEFLESCQEDDNIMRSLQLFQN
  VM

• Structural information:
  • Protein Domains: (38..9-)
    (/note="EF-hand-)
    (-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (97..13-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (133..16-)
    (/note="EF-hand-3)
    (/evidence="ECO:0000255|PROSITE-P-)
  • Interpro: IPR011992  IPR018247  IPR002048  IPR028846  
  • Prosite: PS00018 PS50222
  • CDD: cd00051
  • PDB: 1S1E 2I2R 2NZ0
  • PDBsum: 1S1E 2I2R 2NZ0
  • DIP: 29246
• Other Databases: GeneCards:  KCNIP1  Malacards:  KCNIP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005509	calcium ion binding	IDA	molecular function
GO:1901379	regulation of potassium ion transmembrane transport	IDA	biological process
GO:0008076	voltage-gated potassium channel complex	IDA	cellular component
GO:0015459	potassium channel regulator activity	IDA	molecular function
GO:1901379	regulation of potassium ion transmembrane transport	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0031234	extrinsic component of cytoplasmic side of plasma membrane	IDA	cellular component
GO:0015459	potassium channel regulator activity	IDA	molecular function
GO:0008076	voltage-gated potassium channel complex	IDA	cellular component
GO:0005509	calcium ion binding	IEA	molecular function
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0005267	potassium channel activity	IEA	molecular function
GO:0006813	potassium ion transport	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0061337	cardiac conduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008076	voltage-gated potassium channel complex	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray