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Aliases for KCND1 Gene

Aliases for KCND1 Gene

  • Potassium Voltage-Gated Channel Subfamily D Member 1 2 3 5
  • Potassium Channel, Voltage Gated Shal Related Subfamily D, Member 1 2 3
  • Potassium Voltage-Gated Channel, Shal-Related Subfamily, Member 1 2 3
  • Voltage-Gated Potassium Channel Subunit Kv4.1 3 4
  • Shal-Type Potassium Channel 3
  • KV4.1 3

External Ids for KCND1 Gene

Previous GeneCards Identifiers for KCND1 Gene

  • GC0XM047621
  • GC0XM047079
  • GC0XM047864
  • GC0XM048574
  • GC0XM048703
  • GC0XM048818
  • GC0XM046474

Summaries for KCND1 Gene

Entrez Gene Summary for KCND1 Gene

  • This gene encodes a multipass membrane protein that comprises the pore subunit of the voltage-gated A-type potassium channel, which functions in the repolarization of membrane action potentials. Activity of voltage-gated potassium channels is important in a number of physiological processes, among them the regulation of neurotransmitter release, heart rate, insulin secretion, and smooth muscle contraction. [provided by RefSeq, Aug 2013]

GeneCards Summary for KCND1 Gene

KCND1 (Potassium Voltage-Gated Channel Subfamily D Member 1) is a Protein Coding gene. Diseases associated with KCND1 include Long Qt Syndrome 1. Among its related pathways are Cardiac conduction and Potassium Channels. GO annotations related to this gene include ion channel activity and delayed rectifier potassium channel activity. An important paralog of this gene is KCND2.

UniProtKB/Swiss-Prot for KCND1 Gene

  • Pore-forming (alpha) subunit of voltage-gated rapidly inactivating A-type potassium channels. May contribute to I(To) current in heart and I(Sa) current in neurons. Channel properties are modulated by interactions with other alpha subunits and with regulatory subunits.

Tocris Summary for KCND1 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 alpha-subunits contain a single pore-forming region and combine to form tetramers.

Gene Wiki entry for KCND1 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCND1 Gene

Genomics for KCND1 Gene

Regulatory Elements for KCND1 Gene

Enhancers for KCND1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XG048925 1 ENCODE 13 +44.4 44428 3.8 HDGF ATF1 PKNOX1 ARNT SIN3A TCF12 ZNF766 GATA2 ELK1 CBX5 KCND1 TIMM17B PQBP1 GLOD5 ENSG00000204620 ENSG00000228343 PIM2 ENSG00000279155
GH0XG048954 1.6 Ensembl ENCODE dbSUPER 5 +13.1 13076 8.1 HDGF PKNOX1 CREB3L1 AGO1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 GPKOW PIM2 SLC35A2 ENSG00000204620 PCSK1N KCND1 ENSG00000228343 GRIPAP1 OTUD5 RNU6-722P
GH0XG048910 1.3 ENCODE dbSUPER 4.8 +59.7 59672 4.0 PKNOX1 CREB3L1 ARNT AGO1 ARID4B SIN3A DMAP1 ZNF2 YY1 FOS ENSG00000204620 KCND1 SLC35A2 PIM2
GH0XG048971 0.9 ENCODE 5.3 -0.3 -275 1.4 HDAC1 RB1 AGO1 ZNF76 KLF17 ZNF2 RAD21 GLIS2 GATA2 ZNF366 KCND1 ENSG00000228343 GRIPAP1
GH0XG049234 1 ENCODE 4 -263.8 -263757 1.5 HDGF PKNOX1 ATF1 CREB3L1 ARNT SIN3A DMAP1 ZNF2 YY1 ETS1 CACNA1F KCND1 CCDC22 FOXP3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KCND1 on UCSC Golden Path with GeneCards custom track

Genomic Location for KCND1 Gene

Chromosome:
X
Start:
48,960,983 bp from pter
End:
48,971,844 bp from pter
Size:
10,862 bases
Orientation:
Minus strand

Genomic View for KCND1 Gene

Genes around KCND1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCND1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCND1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCND1 Gene

Proteins for KCND1 Gene

  • Protein details for KCND1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NSA2-KCND1_HUMAN
    Recommended name:
    Potassium voltage-gated channel subfamily D member 1
    Protein Accession:
    Q9NSA2
    Secondary Accessions:
    • A6NEF1
    • B2RCG0
    • O75671

    Protein attributes for KCND1 Gene

    Size:
    647 amino acids
    Molecular mass:
    71330 Da
    Quaternary structure:
    • Homotetramer or heterotetramer with KCND2 and/or KCND3. Associates with the regulatory subunits KCNIP1, KCNIP2, KCNIP3 and KCNIP4 (By similarity). Interacts with DPP10 (Probable).

    Alternative splice isoforms for KCND1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KCND1 Gene

Post-translational modifications for KCND1 Gene

  • Glycosylation at posLast=352352 and posLast=355355
  • Modification sites at PhosphoSitePlus

Other Protein References for KCND1 Gene

No data available for DME Specific Peptides for KCND1 Gene

Domains & Families for KCND1 Gene

Gene Families for KCND1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NSA2

UniProtKB/Swiss-Prot:

KCND1_HUMAN :
  • The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.
  • Belongs to the potassium channel family. D (Shal) (TC 1.A.1.2) subfamily. Kv4.1/KCND1 sub-subfamily.
Domain:
  • The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.
Family:
  • Belongs to the potassium channel family. D (Shal) (TC 1.A.1.2) subfamily. Kv4.1/KCND1 sub-subfamily.
genes like me logo Genes that share domains with KCND1: view

Function for KCND1 Gene

Molecular function for KCND1 Gene

GENATLAS Biochemistry:
potassium voltage-gated channel,Shal-related family member 1,expressed in fetal heart,infant brain,colon
UniProtKB/Swiss-Prot Function:
Pore-forming (alpha) subunit of voltage-gated rapidly inactivating A-type potassium channels. May contribute to I(To) current in heart and I(Sa) current in neurons. Channel properties are modulated by interactions with other alpha subunits and with regulatory subunits.

Gene Ontology (GO) - Molecular Function for KCND1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005249 voltage-gated potassium channel activity IEA --
GO:0005250 A-type (transient outward) potassium channel activity IBA --
GO:0005267 potassium channel activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with KCND1: view
genes like me logo Genes that share phenotypes with KCND1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for KCND1

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KCND1 Gene

Localization for KCND1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCND1 Gene

Membrane; Multi-pass membrane protein. Cell projection, dendrite.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KCND1 gene
Compartment Confidence
plasma membrane 5
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for KCND1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005886 plasma membrane TAS --
GO:0008076 voltage-gated potassium channel complex IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IBA,IEA --
genes like me logo Genes that share ontologies with KCND1: view

Pathways & Interactions for KCND1 Gene

genes like me logo Genes that share pathways with KCND1: view

Pathways by source for KCND1 Gene

Gene Ontology (GO) - Biological Process for KCND1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA --
GO:0034765 regulation of ion transmembrane transport IEA --
GO:0051260 protein homooligomerization IEA --
genes like me logo Genes that share ontologies with KCND1: view

No data available for SIGNOR curated interactions for KCND1 Gene

Drugs & Compounds for KCND1 Gene

(6) Drugs for KCND1 Gene - From: DrugBank, DGIdb, IUPHAR, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
4-Aminopyridine Approved Pharma Pore Blocker, Target, antagonist potassium channel-blocking agent, Non-selective KV channel blocker 69
tetraethylammonium Experimental Pharma Inhibitor 1
fampridine Pharma 0
E-4031 dihydrochloride Pharma KV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr) 0
Linopirdine dihydrochloride Pharma KV7 (KCNQ) channel blocker 0

(1) Additional Compounds for KCND1 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
HMR 1556
223749-46-0

(5) Tocris Compounds for KCND1 Gene

Compound Action Cas Number
4-Aminopyridine Non-selective KV channel blocker 504-24-5
E-4031 dihydrochloride KV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr) 113559-13-0
HMR 1556 Potent and selective Iks channel blocker 223749-46-0
Linopirdine dihydrochloride KV7 (KCNQ) channel blocker 113168-57-3
XE 991 dihydrochloride Potent, selective KV7 (KCNQ) channel blocker; blocks M-currents 122955-13-9
genes like me logo Genes that share compounds with KCND1: view

Transcripts for KCND1 Gene

Unigene Clusters for KCND1 Gene

Potassium voltage-gated channel, Shal-related subfamily, member 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCND1 Gene

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

Relevant External Links for KCND1 Gene

GeneLoc Exon Structure for
KCND1
ECgene alternative splicing isoforms for
KCND1

Expression for KCND1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KCND1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCND1 Gene

This gene is overexpressed in Brain - Cerebellum (x4.5).

Protein differential expression in normal tissues from HIPED for KCND1 Gene

This gene is overexpressed in Pancreatic juice (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KCND1 Gene



Protein tissue co-expression partners for KCND1 Gene

NURSA nuclear receptor signaling pathways regulating expression of KCND1 Gene:

KCND1

SOURCE GeneReport for Unigene cluster for KCND1 Gene:

Hs.55276

mRNA Expression by UniProt/SwissProt for KCND1 Gene:

Q9NSA2-KCND1_HUMAN
Tissue specificity: Widely expressed. Highly expressed in brain, in particular in cerebellum and thalamus; detected at lower levels in the other parts of the brain.

Evidence on tissue expression from TISSUES for KCND1 Gene

  • Nervous system(4.4)
  • Heart(4.3)
genes like me logo Genes that share expression patterns with KCND1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for KCND1 Gene

Orthologs for KCND1 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCND1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCND1 34 35
  • 99.25 (n)
cow
(Bos Taurus)
Mammalia KCND1 34 35
  • 91.04 (n)
dog
(Canis familiaris)
Mammalia KCND1 34 35
  • 90.93 (n)
rat
(Rattus norvegicus)
Mammalia Kcnd1 34
  • 87.58 (n)
mouse
(Mus musculus)
Mammalia Kcnd1 34 16 35
  • 87.33 (n)
oppossum
(Monodelphis domestica)
Mammalia KCND1 35
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCND1 35
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCND1 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488387 34
  • 72.97 (n)
zebrafish
(Danio rerio)
Actinopterygii kcnd1 34 35
  • 73.21 (n)
fruit fly
(Drosophila melanogaster)
Insecta Shal 36 35
  • 71 (a)
worm
(Caenorhabditis elegans)
Secernentea Y73B6BL.19 36
  • 61 (a)
shl-1 35
  • 58 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9633 35
  • 45 (a)
OneToMany
Species where no ortholog for KCND1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KCND1 Gene

ENSEMBL:
Gene Tree for KCND1 (if available)
TreeFam:
Gene Tree for KCND1 (if available)

Paralogs for KCND1 Gene

(20) SIMAP similar genes for KCND1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with KCND1: view

Variants for KCND1 Gene

Sequence variations from dbSNP and Humsavar for KCND1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs1000248357 -- 48,965,178(+) CTCCC(A/G)AGTAG intron-variant
rs1000896122 -- 48,967,448(+) AAGGG(C/T)TTCAA intron-variant, downstream-variant-500B
rs1001350211 -- 48,967,927(+) AGAGC(C/G)TGTCC intron-variant, utr-variant-3-prime
rs1001954752 -- 48,970,450(+) TCTGG(G/T)GGACA intron-variant, utr-variant-5-prime
rs1002902342 -- 48,972,463(+) CAGGC(C/T)CCACT upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for KCND1 Gene

Variant ID Type Subtype PubMed ID
esv32909 CNV gain+loss 17666407
nsv474725 CNV novel sequence insertion 20440878
nsv513606 CNV insertion 21212237
nsv528292 CNV gain 19592680

Variation tolerance for KCND1 Gene

Residual Variation Intolerance Score: 23.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.14; 38.84% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCND1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCND1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCND1 Gene

Disorders for KCND1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KCND1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
long qt syndrome 1
  • long qt syndrome 1, acquired
- elite association - COSMIC cancer census association via MalaCards
Search KCND1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for KCND1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCND1
genes like me logo Genes that share disorders with KCND1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KCND1 Gene

Publications for KCND1 Gene

  1. Gene structures and expression profiles of three human KCND (Kv4) potassium channels mediating A-type currents I(TO) and I(SA). (PMID: 10729221) Isbrandt D. … Pongs O. (Genomics 2000) 2 3 4 22 64
  2. Modulation of Kv4.2 channel expression and gating by dipeptidyl peptidase 10 (DPP10). (PMID: 15454437) Jerng H.H. … Pfaffinger P.J. (Biophys. J. 2004) 3 4 22 64
  3. International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels. (PMID: 16382104) Gutman G.A. … Wang X. (Pharmacol. Rev. 2005) 2 3 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for KCND1 Gene

Sources for KCND1 Gene

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