KCNIP3 Gene
protein-coding GIFtS : 57
GC02P095326
Kv channel interacting protein 3, calsenilin (Previous names: calsenilin, presenilin-binding protein, EF hand transcription factor )Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database (Previous symbol: CSEN )
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Aliases & Descriptions for KCNIP3
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases CSEN 2 , 3 DREAM 1 , 2 , 3 KCHIP3 1 , 2 , 3 KChIP3 3 MGC18289 2 calsenilin 1
Descriptions A-type potassium channel modulatory protein 3 2 , 3 DRE-antagonist modulator 2 , 3 Kv channel interacting protein 3 2 Kv channel interacting protein 3, calsenilin 2 Kv channel-interacting protein 3 3 calsenilin, presenilin-binding protein, EF hand transcription factor 1 , 2 potassium channel interacting protein 3 2
Search outside databases for aliases for KCNIP3 gene
Summaries for KCNIP3 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for KCNIP3 : This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interactingproteins, which belong to the recoverin branch of the EF-hand superfamily. Members of this familyare small calcium binding proteins containing EF-hand-like domains. They are integral subunitcomponents of native Kv4 channel complexes that may regulate A-type currents, and hence neuronalexcitability, in response to changes in intracellular calcium. The encoded protein also functionsas a calcium-regulated transcriptional repressor, and interacts with presenilins. Alternativelyspliced transcript variants encoding different isoforms have been described. [provided by RefSeq] UniProtKB/Swiss-Prot: CSEN_HUMAN, Q9Y2W7 Function : May play a role in the regulation of PSEN2 proteolytic processing and apoptosis. Togetherwith PSEN2 involved in modulation of beta-amyloid formation
Gene Wiki entry for KCNIP3 (Calsenilin)
Genomic Location for KCNIP3
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the KCNIP3 gene Entrez Gene cytogenetic band: 2q21.1 Ensembl cytogenetic band: 2q11.1 HGNC cytogenetic band: 2q21.1 KCNIP3 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 2 GeneLoc Exon Structure
GeneLoc location for GC02P095326:
(about GC identifiers )
Start:
95,326,799 bp from pter
End:
95,415,552 bp from pter
Size:
88,754 bases
Orientation:
plus strand
RefSeq DNA sequence: NC_000002.10 NT_026970.9 Proteins for KCNIP3
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: CSEN_HUMAN, Q9Y2W7 (See
protein sequence )Recommended Name: Calsenilin Size : 256 amino acids; 29231 Da
Subunit : Binds to DNA as a homomultimer. Dimerization is induced by binding to calcium. Componentof heteromultimeric potassium channels. Interacts with KCND2 and KCND3 (By similarity). Interactswith the C-terminus of PSEN1 and PSEN2 and with PSEN2 CTF subunit. Associates with KCN1
Subcellular location : Cytoplasm. Cell membrane; Lipid-anchor (By similarity). Endoplasmicreticulum. Golgi apparatus. Nucleus (Probable). Note=Also membrane-bound, associated with theplasma membrane (By similarity). In the presence of PSEN2 associated with the endoplasmicreticulum and Golgi
PDB structures from and Proteopedia : 2E6W (3D)
 
Secondary accessions : Q53TJ5 Q96T40 Q9UJ84 Q9UJ85Alternative splicing : 2 isoforms : Q9Y2W7-1 Q9Y2W7-2
Post-translational modifications:
Palmitoylated. Palmitoylation enhances association with the plasma membrane (By similarity)1
Proteolytically cleaved by caspase-31
Phosphorylation at Ser-63 inhibits cleavage by CASP31
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_001030086.1 NP_038462.1 ENSEMBL proteins: ENSP00000366386 ENSP00000354261 ENSP00000295225 Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: KCNIP3 5/6 Gene Ontology (GO) cellular component terms (links to tree view) (see all 6
):
About this table Antibodies for KCNIP3: Assays for KCNIP3:
Protein
Domains/ Families for KCNIP3(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry Q9Y2W7 ProtoNet protein and cluster: Q9Y2W7
1 Blocks protein family : IPB001125 Recoverin family signature UniProtKB/Swiss-Prot: CSEN_HUMAN, Q9Y2W7 Similarity : Belongs to the recoverin familySimilarity : Contains 4 EF-hand domains
Gene Function for KCNIP3
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_001034914 Applied Biosystems Silencer ® siRNAs for KCNIP3 Sigma-Aldrich siRNA for KCNIP3 Sigma-Aldrich shRNA for KCNIP3 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001034914                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001034914                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_001034914  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_013434 UniProtKB/Swiss-Prot: CSEN_HUMAN, Q9Y2W7 Function : Calcium-dependent transcriptional repressor that binds to the DRE element of genesincluding PDYN and FOS. Affinity for DNA is reduced upon binding to calcium and enhanced bybinding to magnesium. Seems to be involved in nociception (By similarity) Function : Regulatory subunit of Kv4/D (Shal)-type voltage-gated rapidly inactivating A-typepotassium channels. Probably modulates channels density, inactivation kinetics and rate ofrecovery from inactivation in a calcium-dependent and isoform-specific manner. In vitro, modulatesKCND2/Kv4.2 and KCND3/Kv4.3 currents. Involved in KCND2 and probably KCND3 trafficking to the cellsurface Function : May play a role in the regulation of PSEN2 proteolytic processing and apoptosis. Togetherwith PSEN2 involved in modulation of beta-amyloid formation
4 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Kcnip3) :5/9 Gene Ontology (GO) molecular function terms (links to tree view) (see all 9
):
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Pathways & Interactions for KCNIP3
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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Gene Network CentralTM Interacting Genes and Proteins Network for KCNIP3 5/9 Interacting proteins for KCNIP3 (ENSP00000295225 3 Q9Y2W7 2 ) via UniProtKB, MINT, and/or STRING (see all 9
)About this table 5/10 Gene Ontology (GO) biological process terms (links to tree view) (see all 10
):
GO ID Qualified GO term Evidence PubMed IDs GO:0000122 negative regulation of transcription from RNA polymerase II promoter
IEA -- GO:0006350 transcription
IEA -- GO:0006811 ion transport
IEA -- GO:0006813 potassium ion transport
IEA -- GO:0006915 apoptosis
IEA --
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Drugs & Compounds for KCNIP3 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Enzo Life Sciences drugs & compounds for KCNIP3
Compounds for KCNIP3 available from Tocris Bioscience About this table 4 Novoseek chemical compound relationships for KCNIP3 gene
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Transcripts for KCNIP3(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_001034914 Sigma-Aldrich siRNA for KCNIP3 Sigma-Aldrich shRNA for KCNIP3 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_001034914 NM_013434
REFSEQ mRNAs for KCNIP3 gene (2 alternative transcripts): NM_001034914.1 NM_013434.4
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001034914 NM_013434
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001034914                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001034914                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_001034914  
Additional cDNA sequence: AB209076.1 AF120102.1 AF199599.1 AF367022.1 AK025847.1 AK026052.1 AK095539.1 AK315437.1 BC012850.1 BC019877.2 BT020075.1 DQ148485.1 DQ148486.1
9 DOTS entries : DT.445196 DT.434125 DT.97820366 DT.120985719 DT.120985703 DT.120985702 DT.75101966 DT.97836794 DT.86840430
24/101 AceView cDNA sequences (see all 101
):AA349364 BX279924 AK095539 AW298517 AW450942 AA349363 BF374876 AA861334 AI365501 BC012850 BE222787 AI699155 AL039635 AK026052 AL540923 AF199599 AF120102 NM_013434 AK025847 BU689479 T87627 BQ948338 BP348449 AI523747
highest scoring ESTs for KCNIP3 :AL118854 AA233601 AA349363 AA349364 AA349365 AF120102 AF199599 AF367022 AI094427 AI365501
Unigene Cluster for KCNIP3: Kv channel interacting protein 3, calsenilin Hs.437376 [show with all ESTs ] Unigene Representative Sequence: AB209076 GeneLoc Exon Structure 3 Ensembl transcripts including schematic representations : ENST00000377181
ENST00000360990
ENST00000295225
Expression for KCNIP3
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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KCNIP3 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for KCNIP3 1 / 2 / 3
10 probe-sets matching KCNIP3 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: --SOURCE GeneReport for Unigene cluster: Hs.437376 UniProtKB/Swiss-Prot: CSEN_HUMAN, Q9Y2W7 Tissue specificity : Highly expressed in brain. Widely expressed at lower levels. Expression levelsare elevated in brain cortex regions affected by Alzheimer disease
Orthologs for KCNIP3
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for KCNIP3 gene from 5/8 species (see all 8
)
About this table Species with no ortholog for KCNIP3 ENSEMBL Gene Tree for KCNIP3 Paralogs for KCNIP3 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for KCNIP3 gene EFCAB1 2 KCNIP2 2
SNPs/Variants for KCNIP3 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for KCNIP3 (up to first 250kb)
Disorders & Mutations for KCNIP3
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 604662 1 Novoseek disease relationship for KCNIP3 gene
About this table Genetic Association Database: KCNIP3
Medical News for KCNIP3 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for KCNIP3 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/62 PubMed articles for KCNIP3 gene (see all 62
): DREAM is a Ca2+-regulated transcriptional repressor. (PubMed id 10078534) 2, 3, 4 Carrion A.M....Naranjo J.R. (1999) Calsenilin: a calcium-binding protein that interacts with the presenilins and regulates the levels of a presenilin fragment. (PubMed id 9771752) 2, 3, 4 Buxbaum J.D.... Wasco W. (1998) Calsenilin is a substrate for caspase-3 that preferentially interacts with the familial Alzheimer's disease-associated C-terminal fragment of presenilin 2. (PubMed id 11278424) 1, 3, 4 Choi E.K.... Wasco W. (2001) Phosphorylation of calsenilin at Ser63 regulates its cleavage by caspase-3. (PubMed id 12837631) 1, 3, 4 Choi E.K....Wasco W. (2003) Induction of pro-apoptotic calsenilin/DREAM/KChIP3 in Alzheimer's disease and cultured neurons after amyloid-beta exposure. (PubMed id 14720210) 1, 3, 4 Jo D.G....Jung Y.K. (2004) Genomic structure, expression pattern, and chromosomal localization of the human calsenilin gene: no association between an exonic polymorphism and Alzheimer's disease. (PubMed id 11072133) 1, 3, 6 Buxbaum J.D....Blacker D. (2000) Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621) 3, 4 Hillier L.W....Wilson R.K. (2005) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) A fundamental role for KChIPs in determining the molecular properties and trafficking of Kv4.2 potassium channels. (PubMed id 12829703) 3, 4 Shibata R.... Trimmer J.S. (2003) Calsenilin enhances apoptosis by altering endoplasmic reticulum calcium signaling. (PubMed id 11988022) 3, 4 Lilliehook C....Buxbaum J.D. (2002)
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Genome Databases showing KCNIP3
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing KCNIP3
(According to HUGE )
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--
Specialized Databases showing KCNIP3 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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-- Services for KCNIP3 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Products for KCNIP3:
Recombinant Proteins (CSEN ) Antibodies (CSEN )
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