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KCNIP1 Gene

protein-coding   GIFtS: 52
GCID: GC05P169780

Kv Channel Interacting Protein 1

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Kv Channel Interacting Protein 11 2     Kv Channel-Interacting Protein 12
Vesicle APC-Binding Protein2 3     Potassium Channel Interacting Protein 12
KCHIP12 3     KChIP13
VABP2 3     Potassium Channel-Interacting Protein 13
A-Type Potassium Channel Modulatory Protein 12 3     

External Ids:    HGNC: 155211   Entrez Gene: 308202   Ensembl: ENSG000001821327   OMIM: 6046605   UniProtKB: Q9NZI23   

Export aliases for KCNIP1 gene to outside databases

Previous GC identifers: GC05P170167 GC05P170634 GC05P169716 GC05P169911 GC05P169863 GC05P164879


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for KCNIP1 Gene:
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)

GeneCards Summary for KCNIP1 Gene:
KCNIP1 (Kv channel interacting protein 1) is a protein-coding gene. GO annotations related to this gene include protein N-terminus binding and calcium ion binding. An important paralog of this gene is HPCA.

UniProtKB/Swiss-Prot: KCIP1_HUMAN, Q9NZI2
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

summary for KCNIP1 Gene:
Voltage-gated potassium channels (KV) belong to the 6-TM family of potassium channel that also comprises the
Ca2+-activated Slo (actually 7-TM) and the Ca2+-activated SK subfamilies. The pore-forming alpha-subunits
contain a single pore-forming region and combine to form tetramers. Heteromeric channels can be formed
within subfamilies e.g. KV1.1 with KV1.2 and KCNQ2 with KCNQ3.

Gene Wiki entry for KCNIP1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000005.9  NT_023133.14  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KCNIP1 gene promoter:
         Olf-1   Lmo2   LUN-1   LCR-F1   E47   N-Myc   AREB6   PPAR-gamma1   USF-1   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): KCNIP1 promoter sequence
   Search Chromatin IP Primers for KCNIP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KCNIP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q35.1   Ensembl cytogenetic band:  5q35.1   HGNC cytogenetic band: 5q35

KCNIP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNIP1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P169780:  view genomic region     (about GC identifiers)

Start:
169,780,491 bp from pter      End:
170,163,636 bp from pter
Size:
383,146 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: KCIP1_HUMAN, Q9NZI2 (See protein sequence)
Recommended Name: Kv channel-interacting protein 1  
Size: 227 amino acids; 26817 Da
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
3 PDB 3D structures from and Proteopedia for KCNIP1:
1S1E (3D)        2I2R (3D)        2NZ0 (3D)    
Secondary accessions: B7Z7B4 Q3YAD0 Q3YAD1 Q3YAD2 Q5U822
Alternative splicing: 5 isoforms:  Q9NZI2-1   Q9NZI2-2   Q9NZI2-3   Q9NZI2-4   Q9NZI2-5   

Explore the universe of human proteins at neXtProt for KCNIP1: NX_Q9NZI2

Explore proteomics data for KCNIP1 at MOPED


See KCNIP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (5 alternative transcripts): 
NP_001030009.1  NP_001030010.1  NP_001265268.1  NP_001265269.1  NP_055407.1  

ENSEMBL proteins: 
 ENSP00000366577   ENSP00000431053   ENSP00000329686   ENSP00000431102   ENSP00000414886  
 ENSP00000395323   ENSP00000375071  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
EFHAND: EF-hand domain containing

4 InterPro protein domains:
 IPR001125 Recoverin_like
 IPR011992 EF-hand-dom_pair
 IPR002048 EF_hand_dom
 IPR018247 EF_Hand_1_Ca_BS

Graphical View of Domain Structure for InterPro Entry Q9NZI2

ProtoNet protein and cluster: Q9NZI2

1 Blocks protein domain: IPB001125 Recoverin family signature

UniProtKB/Swiss-Prot: KCIP1_HUMAN, Q9NZI2
Similarity: Belongs to the recoverin family
Similarity: Contains 4 EF-hand domains


Find genes that share domains with KCNIP1           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: KCIP1_HUMAN, Q9NZI2
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

     Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005244voltage-gated ion channel activity IEA--
GO:0005267potassium channel activity IEA--
GO:0005509calcium ion binding IEA--
GO:0005515protein binding IPI15358149
GO:0015459potassium channel regulator activity IEA--
     
Find genes that share ontologies with KCNIP1           About GenesLikeMe


Animal Models:
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SwitchGear 3'UTR luciferase reporter plasmidKCNIP1 3' UTR sequence
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
KCIP1_HUMAN, Q9NZI2: Cell membrane; Peripheral membrane protein (By similarity)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
plasma membrane5
cytosol3
mitochondrion2
nucleus1

Gene Ontology (GO): 5 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005578proteinaceous extracellular matrix ----
GO:0005886plasma membrane IEA--
GO:0030425dendrite IEA--
GO:0034705potassium channel complex IEA--
GO:0043025neuronal cell body IEA--

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(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Pathway & Disease-focused RT2 Profiler PCR Arrays including KCNIP1: 
          Necrosis in human mouse rat
          Molecular Toxicology PathwayFinder 384HT in human mouse rat
          Cell Death PathwayFinder in human mouse rat

Interactions:

    GeneGlobe Interaction Network for KCNIP1

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

4 Interacting proteins for KCNIP1 (Q9NZI21, 3 ENSP000003953234) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
KCND2Q9NZV81, 3, ENSP000003334964EBI-2120635,EBI-1646745 I2D: score=4 STRING: ENSP00000333496
KCND1Q9NSA23, ENSP000002181764I2D: score=1 STRING: ENSP00000218176
KCND3Q9UK173, ENSP000003195914I2D: score=1 STRING: ENSP00000319591
KCNIP2ENSP000004200404STRING: ENSP00000420040
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Gene Ontology (GO): 4 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005513detection of calcium ion TAS10676964
GO:0007165signal transduction TAS10676964
GO:0007268synaptic transmission TAS10676964
GO:0045760positive regulation of action potential IEA--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Compounds for KCNIP1 available from Tocris Bioscience    About this table
CompoundAction CAS #
ICA 110381KV7.2/7.3 activator; displays anticonvulsant properties[325457-99-6]
XE 991 dihydrochloride Potent, selective KV7 (KCNQ) channel blocker; blocks M-current [122955-42-4]
JNJ 303Potent and selective IKs blocker[878489-28-2]
E-4031 dihydrochlorideKV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr)[113559-13-0]
ShK-Dap22Extremely potent and selective KV1.3 blocker; suppresses T cell activation in vitro[220384-25-8]

2 HMDB Compounds for KCNIP1    About this table
CompoundSynonyms CAS #PubMed Ids
CalciumCa (see all 2)7440-70-2--
PotassiumK+ (see all 16)7440-09-7--

2 Novoseek inferred chemical compound relationships for KCNIP1 gene    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
potassium 37.1 1 14980206 (1)
calcium 13.9 2 14600268 (1), 18201103 (1)

1 PharmGKB related drug/compound annotation for KCNIP1 gene    About this table
Drug/compound PharmGKB Annotation
verapamilCA  



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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for KCNIP1 gene (5 alternative transcripts): 
NM_001034837.2  NM_001034838.2  NM_001278339.1  NM_001278340.1  NM_014592.3  

Unigene Cluster for KCNIP1:

Kv channel interacting protein 1
Hs.484111  [show with all ESTs]
Unigene Representative Sequence: NM_001034837
8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000518527 ENST00000377360 ENST00000517344 ENST00000328939(uc003map.3 uc003mas.3 uc003mat.3 uc010jjp.3 uc010jjq.3)
ENST00000520740 ENST00000434108 ENST00000411494 ENST00000390656
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hsa-miR-4291 hsa-miR-148b* hsa-miR-875-3p hsa-miR-495 hsa-miR-4251 hsa-miR-1260b hsa-miR-650 hsa-miR-3921
SwitchGear 3'UTR luciferase reporter plasmidKCNIP1 3' UTR sequence
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  QuantiFast Probe-based Assays in human, mouse, rat KCNIP1

Additional mRNA sequence: 

AF199597.1 AK074390.1 AK301775.1 AY170821.1 AY780424.1 BC035032.1 BC050375.1 DQ148476.1 
DQ148477.1 DQ148478.1 DQ148479.1 

6 DOTS entries:

DT.40315513  DT.120848015  DT.120848016  DT.120847999  DT.75143416  DT.97810830 

Selected AceView cDNA sequences (see all 33):

AL538404 AI333844 CR602258 CA942598 AF199597 NM_014592 CA942614 BX420376 
BM920920 CR602352 BX451738 AK074390 BC035032 BE464646 AY170821 BU790505 
CA942856 AI004002 BX461539 AI422813 AL567288 BX464072 BC050375 BI546102 

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for KCNIP1    About this scheme

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c
SP1:                                -                       -                                             
SP2:                          -     -                       -                                             
SP3:                          -     -                                                                     
SP4:                          -                                                                           


ECgene alternative splicing isoforms for KCNIP1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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KCNIP1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TTCTAACCAA
KCNIP1 Expression
About this image


KCNIP1 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 5) fully expand
 
 Epidermis (Integumentary System)
         Stratified Epidermis
 
 Neurons
         GABAergic Amacrine Cells Inner Nuclear Layer
 
 Eye (Sensory Organs)
         GABAergic Amacrine Cells Inner Nuclear Layer
 
 Brain (Nervous System)
         Choroid Plexus Progenitor Cells Choroid Plexus
 
 Ovary (Reproductive System)
KCNIP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

KCNIP1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.484111

UniProtKB/Swiss-Prot: KCIP1_HUMAN, Q9NZI2
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

    Pathway & Disease-focused RT2 Profiler PCR Arrays including KCNIP1: 
          Necrosis in human mouse rat
          Molecular Toxicology PathwayFinder 384HT in human mouse rat
          Cell Death PathwayFinder in human mouse rat

Primer
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OriGene qPCR primer pairs and template standards for KCNIP1
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QuantiTect SYBR Green Assays in human, mouse, rat KCNIP1
QuantiFast Probe-based Assays in human, mouse, rat KCNIP1
In Situ
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNIP1

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals and fungi.

Orthologs for KCNIP1 gene from Selected species (see all 17)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Kcnip11 , 5 Kv channel-interacting protein 11, 5 91.92(n)1
99.56(a)1
  11 (19.21 cM)5
703571  NM_001190885.11  NP_001177814.11 
 336293395 
chicken
(Gallus gallus)
Aves KCNIP11 Kv channel interacting protein 1 79.44(n)
93.39(a)
  416173  XM_004944781.1  XP_004944838.1 
lizard
(Anolis carolinensis)
Reptilia KCNIP16
Kv channel interacting protein 1
82(a)
1 ↔ 1
2(121523970-121540456)
tropical clawed frog
(Xenopus tropicalis)
Amphibia kcnip11 Kv channel interacting protein 1 75.77(n)
88.55(a)
  100497014  XM_004912819.1  XP_004912876.1 
zebrafish
(Danio rerio)
Actinopterygii kcnip1a1 Kv channel interacting protein 1 a 77.04(n)
83.16(a)
  100008068  XM_001346344.3  XP_001346380.2 
fruit fly
(Drosophila melanogaster)
Insecta CG58901 , 3 calcium ion binding3
CG58901
51(a)3
57.85(n)1
53.44(a)1
  96F53
431261  NM_001170268.11  NP_001163739.11 
worm
(Caenorhabditis elegans)
Secernentea F21A10.13 EF hand (2 domains) 34(a)   X(10214279-10215802)   --
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FRQ16
N-myristoylated calcium-binding protein that may h...
42(a)
1 → many
IV(1222759-1223331) YDR373W


ENSEMBL Gene Tree for KCNIP1 (if available)
TreeFam Gene Tree for KCNIP1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for KCNIP1 gene
HPCA2  KCNIP32  KCNIP42  GUCA1A2  RCVRN2  HPCAL12  GUCA1B2  NCALD2  
KCNIP22  HPCAL42  NCS12  GUCA1C2  VSNL12  
16 SIMAP similar genes for KCNIP1 using alignment to 2 protein entries:     KCIP1_HUMAN (see all proteins):
KCNIP4    KCNIP3    KCNIP2    DKFZp781K1922    HPCA    NCALD
HPCAL1    NCS1    VSNL1    HPCAL4    RCVRN    GUCA1A
GUCA1B    DKFZp686E1183    GUCA1C    PPP3R1

Find genes that share paralogs with KCNIP1           About GenesLikeMe



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for KCNIP1 (see all 8014)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 5 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1471476961,2
C,Funtested1170377505(+) CTGTCG/AATTTT 6 /S syn12Minor allele frequency- A:0.00NA EU 5871
rs1484294631,2
C--164893307(+) AGAAA-/GGAAAG 1 -- int10--------
rs1460480201,2
C--164908884(+) GAGGG-/GAAAAAA 1 -- int10--------
rs100659691,2
C,F,A,H--164915922(+) CTCCAC/AAACTG 1 -- int118Minor allele frequency- A:0.23NS EA NA CSA WA 2332
rs3141311,2
C,H--164915923(+) TCCACG/AACTGC 1 -- int110Minor allele frequency- A:0.16MN WA NA CSA EA 553
rs2000782931,2
C--164938074(+) GCTTTC/TCATTT 1 -- int10--------
rs40417361,2
C--164988023(+) aaaaa-/AC/CA 
        
naaaa
1 -- int1 trp30--------
rs753678741,2
C--165018526(+) TATTT-/A/ATTT
        
TTTGA
1 -- int10--------
rs1849697091,2
--165029816(+) GCTCCC/GCGCCG 3 -- int1 ut510--------
rs43687461,2
C,F,A,H--165095690(+) GTCAAC/TTGAAA 3 -- int19Minor allele frequency- T:0.18NS EA NA WA 736

HapMap Linkage Disequilibrium report for KCNIP1 (169780491 - 170030491 bp, first 250kb of KCNIP1)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for KCNIP1 (see all 51):    About this table    
Variant IDTypeSubtypePubMed ID
esv2731071CNV Deletion23290073
esv2731078CNV Deletion23290073
esv2502584CNV Deletion19546169
esv4823CNV Deletion18987735
esv2666800CNV Deletion23128226
esv2731075CNV Deletion23290073
esv1660639CNV Deletion17803354
esv2731069CNV Deletion23290073
esv2188655CNV Deletion18987734
esv2731067CNV Deletion23290073

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing KCNIP1
DNA2.0 Custom Variant and Variant Library Synthesis for KCNIP1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 604660    OMIM disorders: --


Find genes that share disorders with KCNIP1           About GenesLikeMe

Genetic Association Database (GAD): KCNIP1
Human Genome Epidemiology (HuGE) Navigator: KCNIP1 (3 documents)

Export disorders for KCNIP1 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for KCNIP1 gene, integrated from 10 sources (see all 38):
(articles sorted by number of sources associating them with KCNIP1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Modulation of A-type potassium channels by a family of calcium sensors. (PubMed id 10676964)1, 2, 3 An W.F.... Rhodes K.J. (Nature 2000)
  2. Two N-terminal domains of Kv4 K(+) channels regulate binding to and modulation by KChIP1. (PubMed id 14980207)1, 2, 9 Scannevin R.H.... Rhodes K.J. (Neuron 2004)
  3. Different effects of the Ca(2+)-binding protein, KChIP1, on two Kv4 subfamily members, Kv4.1 and Kv4.2. (PubMed id 11423117)1, 2, 9 Nakamura T.Y....Coetzee W.A. (FEBS Lett. 2001)
  4. Structure, alternative splicing, and expression of the human and mouse KCNIP gene family. (PubMed id 16112838)1, 2, 9 Pruunsild P. and Timmusk T. (Genomics 2005)
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
  6. Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. (PubMed id 19010793)1, 4 Baranzini S.E....Oksenberg J.R. (Hum. Mol. Genet. 2009)
  7. Three-dimensional structure of the KChIP1-Kv4.3 T1 complex reveals a cross-shaped octamer. (PubMed id 17057713)1, 2 Pioletti M.... Minor D.L. Jr. (Nat. Struct. Mol. Biol. 2006)
  8. Protein-protein interactions of KChIP proteins and Kv4.2. (PubMed id 15358149)1, 2 Lin Y.-L.... Chang L.S. (Biochem. Biophys. Res. Commun. 2004)
  9. Evidence showing an intermolecular interaction between KChIP proteins and Taiwan cobra cardiotoxins. (PubMed id 15184042)1, 2 Lin Y.-L.... Chang L.-S. (Biochem. Biophys. Res. Commun. 2004)
  10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 30820 HGNC: 15521 AceView: KCNIP1 Ensembl:ENSG00000182132 euGenes: HUgn30820
ECgene: KCNIP1 H-InvDB: KCNIP1

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for KCNIP1 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for KCNIP1 gene:
Search GeneIP for patents involving KCNIP1

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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