Gene Gene information from NCBI Gene database.
Entrez ID 30820
Gene name Potassium voltage-gated channel interacting protein 1
Gene symbol KCNIP1
Synonyms (NCBI Gene)
KCHIP1VABP
Chromosome 5
Chromosome location 5q35.1
Summary 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
miRNA miRNA information provided by mirtarbase database.
13
miRTarBase ID miRNA Experiments Reference
MIRT1081120 hsa-miR-3168 CLIP-seq
MIRT1081121 hsa-miR-4693-3p CLIP-seq
MIRT1081122 hsa-miR-378g CLIP-seq
MIRT1081123 hsa-miR-4437 CLIP-seq
MIRT1081124 hsa-miR-4674 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
GO ID Ontology Definition Evidence Reference
GO:0005267 Function Potassium channel activity IEA
GO:0005509 Function Calcium ion binding IBA
GO:0005509 Function Calcium ion binding IDA 17187064
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 10551270, 14980207, 15358149, 17057713, 17187064, 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604660 15521 ENSG00000182132
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NZI2
Protein name A-type potassium channel modulatory protein KCNIP1 (Kv channel-interacting protein 1) (KChIP1) (Potassium channel-interacting protein 1) (Vesicle APC-binding protein)
Protein function Regulatory subunit of Kv4/D (Shal)-type voltage-gated rapidly inactivating A-type potassium channels (PubMed:10676964, PubMed:11423117, PubMed:17187064, PubMed:34552243, PubMed:34997220). Regulates channel density, inactivation kinetics and rate
PDB 1S1E , 2I2R , 2NZ0 , 7E83 , 7E84 , 7F3F , 7W6N , 7W6T
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13833 EF-hand_8 76 129 EF-hand domain pair Domain
PF13499 EF-hand_7 135 211 EF-hand domain pair Domain
PF13202 EF-hand_5 186 210 EF hand Domain
Tissue specificity 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
MGAVMGTFSSLQTKQRRPSKDIAWWYYQYQRDKIEDELEMTMVCHRPEGLEQLEAQTNFT
KRELQVLYRGFKNECPSGVVNEDTFKQIYAQFFPHGDASTYAHYLFNAFDTTQTGSVKFE
DFVTALSIL
LRGTVHEKLRWTFNLYDINKDGYINKEEMMDIVKAIYDMMGKYTYPVLKED
TPRQH
VDVFFQKMDKNKDGIVTLDEFLESCQEDDNIMRSLQLFQNVM
Sequence length 227
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Phase 1 - inactivation of fast Na+ channels
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Idiopathic generalized epilepsy Pathogenic rs1763869544 RCV001581098
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Attention Deficit Disorder with Hyperactivity Associate 29176790, 34573389
Body Weight Associate 34573389
Coronary Artery Disease Associate 27864399
Depressive Disorder Associate 34341332
Diabetes Mellitus Type 2 Associate 29491224
Hyperkinesis Associate 29176790
Multiple Sclerosis Associate 31228212
Uterine Cervical Neoplasms Associate 29745858