KCNIP3 potassium voltage-gated channel interacting protein 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KCNIP3provided by HGNC
Official Full Name: potassium voltage-gated channel interacting protein 3provided by HGNC
Primary source: HGNC:HGNC:15523
See related: Ensembl:ENSG00000115041 MIM:604662; AllianceGenome:HGNC:15523
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CSEN; DREAM; KCHIP3
Summary: This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins, which belong to the recoverin branch of the EF-hand superfamily. Members of this family are small calcium binding proteins containing EF-hand-like domains. They are integral subunit components of native Kv4 channel complexes that may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. The encoded protein also functions as a calcium-regulated transcriptional repressor, and interacts with presenilins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Expression: Broad expression in brain (RPKM 13.6), thyroid (RPKM 9.3) and 14 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q11.1

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (95297347..95386077)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (95803824..95892559)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (95963095..96051825)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Loss of p53-DREAM-mediated repression of cell cycle genes as a driver of lymph node metastasis in head and neck cancer.
Title: Loss of p53-DREAM-mediated repression of cell cycle genes as a driver of lymph node metastasis in head and neck cancer.
Emerging Role of DREAM in Healthy Brain and Neurological Diseases.
Title: Emerging Role of DREAM in Healthy Brain and Neurological Diseases.
KCNIP3 silence promotes proliferation and epithelial-mesenchymal transition of papillary thyroid carcinoma through activating Wnt/beta-catenin pathway.
Title: KCNIP3 silence promotes proliferation and epithelial-mesenchymal transition of papillary thyroid carcinoma through activating Wnt/β-catenin pathway.
Neutrophil DREAM promotes neutrophil recruitment in vascular inflammation.
Title: Neutrophil DREAM promotes neutrophil recruitment in vascular inflammation.
PAF remodels the DREAM complex to bypass cell quiescence and promote lung tumorigenesis.
Title: PAF remodels the DREAM complex to bypass cell quiescence and promote lung tumorigenesis.
Modulation of Kv4.2/KChIP3 interaction by the ceroid lipofuscinosis neuronal 3 protein CLN3.
Title: Modulation of Kv4.2/KChIP3 interaction by the ceroid lipofuscinosis neuronal 3 protein CLN3.
DREAM cooperates with RB in repressing E2F-dependent gene expression and cell cycle entry and supports a role for DREAM as a therapeutic target in cancer.
Title: Cyclin D-CDK4 relieves cooperative repression of proliferation and cell cycle gene expression by DREAM and RB.
Data show that Ca(2+)-binding protein (KChIP3) levels regulate baseline Mucin 5AC (MUC5AC) secretion.
Title: KChIP3 coupled to Ca(2+) oscillations exerts a tonic brake on baseline mucin release in the colon.
this study shows that human papilloma virus E7 oncoprotein abrogates the p53-p21-DREAM pathway
Title: Human papilloma virus E7 oncoprotein abrogates the p53-p21-DREAM pathway.
TBX2 is a neuroblastoma core regulatory circuitry component enhancing MYCN/FOXM1 reactivation of DREAM targets.
Title: TBX2 is a neuroblastoma core regulatory circuitry component enhancing MYCN/FOXM1 reactivation of DREAM targets.

Submit: New GeneRIF Correction See all GeneRIFs (43)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of Kv channel interacting protein 3, calsenilin (KCNIP3) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH18424 (e-PCR)
- UniSTS:58637

MARC_13819-13820:1006878275:1 (e-PCR)
- UniSTS:267569

D2S2159 (e-PCR)
- UniSTS:9796

MARC_16025-16026:1017084488:1 (e-PCR)
- UniSTS:267937

Kcnip3 (e-PCR), detects polymorphism
- UniSTS:478921

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables potassium channel activity	IEA Inferred from Electronic Annotation more info
enables potassium channel regulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables potassium channel regulator activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in potassium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in protein localization to plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of potassium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of potassium ion transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of voltage-gated potassium channel complex	IBA Inferred from Biological aspect of Ancestor more info
part_of voltage-gated potassium channel complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: calsenilin

Names: A-type potassium channel modulatory protein 3; DRE-antagonist modulator; Kv channel interacting protein 3, calsenilin; calsenilin, presenilin-binding protein, EF hand transcription factor; kv channel-interacting protein 3; potassium channel interacting protein 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001034914.2 → NP_001030086.1 calsenilin isoform 2

See identical proteins and their annotated locations for NP_001030086.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) includes an alternate in-frame segment in the 5' coding region and uses an alternate start codon, compared to variant 1. The resulting protein (isoform 2) is shorter and has a unique N-terminus, compared to isoform 1.

Source sequence(s)

AC009238, BC012850, DQ148486, HY076476

Consensus CDS

CCDS33245.1

UniProtKB/TrEMBL

A0A8V8TMV8

Related

ENSP00000417499.1, ENST00000468529.1

Conserved Domains (2) summary

COG5126
Location:55 → 219

FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

cd00051
Location:140 → 212

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
NM_013434.5 → NP_038462.1 calsenilin isoform 1

See identical proteins and their annotated locations for NP_038462.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

BC012850, BI755669, BX491997

Consensus CDS

CCDS2013.1

UniProtKB/Swiss-Prot

H7BY46, Q3YAC3, Q3YAC4, Q53TJ5, Q96T40, Q9UJ84, Q9UJ85, Q9Y2W7

Related

ENSP00000295225.5, ENST00000295225.10

Conserved Domains (2) summary

COG5126
Location:81 → 245

FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

cd00051
Location:166 → 238

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...