Human Gene KCNIP1 (ENST00000377360.8) from GENCODE V44
  Description: Homo sapiens potassium voltage-gated channel interacting protein 1 (KCNIP1), transcript variant 3, mRNA. (from RefSeq NM_001034838)
RefSeq Summary (NM_001034838): 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 subunits to form native Kv4 channel complexes. The encoded protein may regulate rapidly inactivating (A-type) currents, and hence neuronal membrane excitability, in response to changes in the concentration of intracellular calcium. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013].
Gencode Transcript: ENST00000377360.8
Gencode Gene: ENSG00000182132.15
Transcript (Including UTRs)
   Position: hg38 chr5:170,353,487-170,735,935 Size: 382,449 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg38 chr5:170,353,877-170,735,806 Size: 381,930 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:170,353,487-170,735,935)mRNA (may differ from genome)Protein (225 aa)
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HGNCLynxMalacardsMGIneXtProtOMIM
PubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: KCIP1_HUMAN
DESCRIPTION: RecName: Full=Kv channel-interacting protein 1; Short=KChIP1; AltName: Full=A-type potassium channel modulatory protein 1; AltName: Full=Potassium channel-interacting protein 1; AltName: Full=Vesicle APC-binding protein;
FUNCTION: Regulatory subunit of Kv4/D (Shal)-type voltage-gated rapidly inactivating A-type potassium channels. Probably modulates channels density, inactivation kinetics and rate of recovery from inactivation in a calcium-dependent and isoform-specific manner. In vitro, modulates KCND1/Kv4.1 and KCND2/Kv4.2 currents. Seems to be involved in KCND2 trafficking to the cell surface.
SUBUNIT: Component of heteromultimeric potassium channels. Interacts with KCND3 and the N-terminal domain of KCND2. Probably part of a complex consisting of KCNIP1, KCNIP2 isoform 3 and KCND2. Self-associates to form homodimers and homotetramers. Interacts with KCNIP2 isoform 3 in a calcium-dependent manner. Interacts with Naja atra venom CTX3.
INTERACTION: Q9NZV8:KCND2; NbExp=4; IntAct=EBI-2120635, EBI-1646745; Q9NS61-3:KCNIP2; NbExp=4; IntAct=EBI-2120635, EBI-1053010;
SUBCELLULAR LOCATION: Cell membrane; Peripheral membrane protein (By similarity).
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.
SIMILARITY: Belongs to the recoverin family.
SIMILARITY: Contains 4 EF-hand domains.

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 16.98 RPKM in Brain - Nucleus accumbens (basal ganglia)
Total median expression: 121.31 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -166.50390-0.427 Picture PostScript Text
3' UTR -17.30129-0.134 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011992 - EF-hand-like_dom
IPR018247 - EF_Hand_1_Ca_BS
IPR018249 - EF_HAND_2
IPR002048 - EF_hand_Ca-bd
IPR001125 - Recoverin

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1S1E - X-ray MuPIT 2I2R - X-ray MuPIT 2NZ0 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9NZI2
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005244 voltage-gated ion channel activity
GO:0005267 potassium channel activity
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0015459 potassium channel regulator activity
GO:0046872 metal ion binding

Biological Process:
GO:0006811 ion transport
GO:0006813 potassium ion transport
GO:0034765 regulation of ion transmembrane transport
GO:0071805 potassium ion transmembrane transport
GO:1901379 regulation of potassium ion transmembrane transport

Cellular Component:
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0008076 voltage-gated potassium channel complex
GO:0016020 membrane
GO:0030425 dendrite
GO:0031234 extrinsic component of cytoplasmic side of plasma membrane
GO:0042995 cell projection


-  Descriptions from all associated GenBank mRNAs
  AK301775 - Homo sapiens cDNA FLJ52465 complete cds, highly similar to Homo sapiens Kv channel interacting protein 1 (KCNIP1), transcript variant 3, mRNA.
DQ148476 - Homo sapiens potassium channel interacting protein 1 mRNA, complete cds, alternatively spliced.
BC035032 - Homo sapiens Kv channel interacting protein 1, mRNA (cDNA clone IMAGE:5259689).
BC050375 - Homo sapiens Kv channel interacting protein 1, mRNA (cDNA clone MGC:51879 IMAGE:5752207), complete cds.
AY170821 - Homo sapiens vesicle APC-binding protein (VABP) mRNA, complete cds.
AY780424 - Homo sapiens Kv channel interacting protein 1 mRNA, complete cds.
AK074390 - Homo sapiens cDNA FLJ23810 fis, clone HRC08209, highly similar to Homo sapiens A-type potassium channel modulatory protein 1 (KCHIP1) mRNA.
AB527490 - Synthetic construct DNA, clone: pF1KB7936, Homo sapiens KCNIP1 gene for Kv channel interacting protein 1, without stop codon, in Flexi system.
KJ893743 - Synthetic construct Homo sapiens clone ccsbBroadEn_03137 KCNIP1 gene, encodes complete protein.
AF199597 - Homo sapiens A-type potassium channel modulatory protein 1 (KCHIP1) mRNA, complete cds.
DQ148477 - Homo sapiens potassium channel interacting protein 1 mRNA, complete cds, alternatively spliced.
DQ148478 - Homo sapiens potassium channel interacting protein 1 mRNA, complete cds, alternatively spliced.
DQ148479 - Homo sapiens potassium channel interacting protein 1 mRNA, complete cds, alternatively spliced.
DL491713 - Novel nucleic acids.
DL490294 - Novel nucleic acids.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9NZI2 (Reactome details) participates in the following event(s):

R-HSA-5577234 KCND tetramer:KCNIP tetramer transport K+ from cytosol to extrqcellular region
R-HSA-5576894 Phase 1 - inactivation of fast Na+ channels
R-HSA-5576891 Cardiac conduction
R-HSA-397014 Muscle contraction

-  Other Names for This Gene
  Alternate Gene Symbols: B7Z7B4, ENST00000377360.1, ENST00000377360.2, ENST00000377360.3, ENST00000377360.4, ENST00000377360.5, ENST00000377360.6, ENST00000377360.7, KCHIP1, KCIP1_HUMAN, NM_001034838, Q3YAD2, Q5U822, Q9NZI2, uc003map.1, uc003map.2, uc003map.3, uc003map.4, uc003map.5, VABP
UCSC ID: ENST00000377360.8
RefSeq Accession: NM_001034838
Protein: Q9NZI2 (aka KCIP1_HUMAN)
CCDS: CCDS34285.1

-  Methods, Credits, and Use Restrictions
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