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Aliases for KCTD1 Gene

Aliases for KCTD1 Gene

  • Potassium Channel Tetramerization Domain Containing 1 2 3
  • Potassium Channel Tetramerization Domain-Containing Protein 1 3 4
  • Potassium Channel Tetramerisation Domain Containing 1 2 3
  • C18orf5 3 4
  • SENS 3 6
  • BTB/POZ Domain-Containing Protein KCTD1 3

External Ids for KCTD1 Gene

Previous HGNC Symbols for KCTD1 Gene

  • C18orf5

Previous GeneCards Identifiers for KCTD1 Gene

  • GC18U990074
  • GC18M022286
  • GC18M022288
  • GC18M024034
  • GC18M020884

Summaries for KCTD1 Gene

GeneCards Summary for KCTD1 Gene

KCTD1 (Potassium Channel Tetramerization Domain Containing 1) is a Protein Coding gene. Diseases associated with KCTD1 include scalp-ear-nipple syndrome. Among its related pathways are Activation of cAMP-Dependent PKA and Activation of cAMP-Dependent PKA. GO annotations related to this gene include transcription factor binding and transcription corepressor activity. An important paralog of this gene is KCTD11.

UniProtKB/Swiss-Prot for KCTD1 Gene

  • May repress the transcriptional activity of AP-2 family members, including TFAP2A, TFAP2B and TFAP2C to various extent.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCTD1 Gene

Genomics for KCTD1 Gene

Regulatory Elements for KCTD1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for KCTD1 Gene

Start:
26,454,910 bp from pter
End:
26,657,401 bp from pter
Size:
202,492 bases
Orientation:
Minus strand

Genomic View for KCTD1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KCTD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCTD1 Gene

Proteins for KCTD1 Gene

  • Protein details for KCTD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q719H9-KCTD1_HUMAN
    Recommended name:
    BTB/POZ domain-containing protein KCTD1
    Protein Accession:
    Q719H9
    Secondary Accessions:
    • A8K1F5

    Protein attributes for KCTD1 Gene

    Size:
    257 amino acids
    Molecular mass:
    29405 Da
    Quaternary structure:
    • Can form homodimers. Interacts with TFAP2A, TFAP2B and TFAP2C via the BTB domain.

neXtProt entry for KCTD1 Gene

Proteomics data for KCTD1 Gene at MOPED

Post-translational modifications for KCTD1 Gene

No data available for DME Specific Peptides for KCTD1 Gene

Domains for KCTD1 Gene

Protein Domains for KCTD1 Gene

Suggested Antigen Peptide Sequences for KCTD1 Gene

Graphical View of Domain Structure for InterPro Entry

Q719H9

UniProtKB/Swiss-Prot:

KCTD1_HUMAN :
  • Q719H9
Domain:
  • Contains 1 BTB (POZ) domain.
genes like me logo Genes that share domains with KCTD1: view

No data available for Gene Families for KCTD1 Gene

Function for KCTD1 Gene

Molecular function for KCTD1 Gene

UniProtKB/Swiss-Prot Function: May repress the transcriptional activity of AP-2 family members, including TFAP2A, TFAP2B and TFAP2C to various extent.

Gene Ontology (GO) - Molecular Function for KCTD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003714 transcription corepressor activity IDA 19115315
GO:0005515 protein binding IPI 25416956
GO:0008134 transcription factor binding IPI 19115315
genes like me logo Genes that share ontologies with KCTD1: view

Animal Model Products

CRISPR Products

miRNA for KCTD1 Gene

miRTarBase miRNAs that target KCTD1

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KCTD1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for KCTD1 Gene

Localization for KCTD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCTD1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCTD1 Gene COMPARTMENTS Subcellular localization image for KCTD1 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1

Gene Ontology (GO) - Cellular Components for KCTD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 19115315
genes like me logo Genes that share ontologies with KCTD1: view

Pathways for KCTD1 Gene

genes like me logo Genes that share pathways with KCTD1: view

Gene Ontology (GO) - Biological Process for KCTD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0045892 negative regulation of transcription, DNA-templated IDA 19115315
GO:0051260 protein homooligomerization IEA --
genes like me logo Genes that share ontologies with KCTD1: view

Transcripts for KCTD1 Gene

Unigene Clusters for KCTD1 Gene

Potassium channel tetramerisation domain containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KCTD1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCTD1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b
SP1: - - - - - - -
SP2: - - - - -
SP3: -
SP4: - - - -
SP5: -
SP6: - - - -
SP7: -

Relevant External Links for KCTD1 Gene

GeneLoc Exon Structure for
KCTD1
ECgene alternative splicing isoforms for
KCTD1

Expression for KCTD1 Gene

mRNA expression in normal human tissues for KCTD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for KCTD1 Gene

SOURCE GeneReport for Unigene cluster for KCTD1 Gene Hs.526630

mRNA Expression by UniProt/SwissProt for KCTD1 Gene

Q719H9-KCTD1_HUMAN
Tissue specificity: Expressed in mammary gland, kidney, brain and ovary.
genes like me logo Genes that share expressions with KCTD1: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for KCTD1 Gene

Orthologs for KCTD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCTD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCTD1 35
  • 100 (n)
  • 100 (a)
KCTD1 36
  • 30 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KCTD1 35
  • 95.07 (n)
  • 98.83 (a)
KCTD1 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCTD1 35
  • 96.24 (n)
  • 100 (a)
KCTD1 36
  • 60 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kctd1 35
  • 92.09 (n)
  • 96.86 (a)
Kctd1 16
Kctd1 36
  • 30 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KCTD1 36
  • 29 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCTD1 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kctd1 35
  • 92.71 (n)
  • 96.74 (a)
chicken
(Gallus gallus)
Aves KCTD1 36
  • 68 (a)
OneToOne
LOC101748669 35
  • 86.17 (n)
  • 90.46 (a)
lizard
(Anolis carolinensis)
Reptilia KCTD1 36
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kctd1 35
  • 80.16 (n)
  • 95.33 (a)
zebrafish
(Danio rerio)
Actinopterygii kctd1 35
  • 70.6 (n)
  • 82.89 (a)
kctd1 36
  • 67 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG10440 36
  • 36 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1937 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 36 (a)
OneToMany
Species with no ortholog for KCTD1:
  • 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for KCTD1 Gene

ENSEMBL:
Gene Tree for KCTD1 (if available)
TreeFam:
Gene Tree for KCTD1 (if available)

Paralogs for KCTD1 Gene

Paralogs for KCTD1 Gene

Selected SIMAP similar genes for KCTD1 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for KCTD1 Gene

genes like me logo Genes that share paralogs with KCTD1: view

Variants for KCTD1 Gene

Sequence variations from dbSNP and Humsavar for KCTD1 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type MAF
rs3753 -- 26,455,711(+) GTGTG(C/T)GTTTT utr-variant-3-prime
rs3755 -- 26,455,824(+) TATTC(A/G)CTGAA reference, synonymous-codon
rs471914 -- 26,632,940(-) CTCCT(C/T)ACCCC intron-variant
rs472075 -- 26,588,419(-) ACTGT(A/G)TGGTC intron-variant
rs474457 -- 26,594,755(-) GGGGT(A/C)ATCTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KCTD1 Gene

Variant ID Type Subtype PubMed ID
esv2716885 CNV Deletion 23290073
esv2119422 CNV Deletion 18987734
esv3380 CNV Deletion 18987735
esv1006523 CNV Deletion 20482838
esv1276406 CNV Deletion 17803354
nsv2235 CNV Loss 18451855
esv2716886 CNV Deletion 23290073
esv2669356 CNV Deletion 23128226
esv2716887 CNV Deletion 23290073

Relevant External Links for KCTD1 Gene

HapMap Linkage Disequilibrium report
KCTD1
Human Gene Mutation Database (HGMD)
KCTD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCTD1 Gene

Disorders for KCTD1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for KCTD1 Gene including...

Search for KCTD1 Gene in MalaCards »

(1) OMIM Diseases for KCTD1 Gene (613420)

UniProtKB/Swiss-Prot

KCTD1_HUMAN
  • Scalp-ear-nipple syndrome (SENS) [MIM:181270]: A disease characterized by aplasia cutis congenita of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears. Less frequent clinical characteristics include nail dystrophy, dental anomalies, cutaneous syndactyly of the digits, and renal malformations. Penetrance appears to be high, although there is substantial variable expressivity within families. {ECO:0000269 PubMed:23541344}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KCTD1

Genetic Association Database (GAD)
KCTD1
Human Genome Epidemiology (HuGE) Navigator
KCTD1
genes like me logo Genes that share disorders with KCTD1: view

Publications for KCTD1 Gene

  1. 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
  2. Systematic identification and analysis of mammalian small ubiquitin- like modifier substrates. (PMID: 15561718) Gocke C.B. … Kang J. (J. Biol. Chem. 2005) 3 4
  3. The interaction of KCTD1 with transcription factor AP-2alpha inhibits its transactivation. (PMID: 19115315) Ding X. … Zhang J. (J. Cell. Biochem. 2009) 3 4
  4. Mutations in KCTD1 cause scalp-ear-nipple syndrome. (PMID: 23541344) Marneros A.G. … Bamshad M.J. (Am. J. Hum. Genet. 2013) 3 4
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 48

Products for KCTD1 Gene

Sources for KCTD1 Gene

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