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This gene encodes a protein containing a BTB (Broad-complex, tramtrack and bric a brac), also known as a POZ (POxvirus and zinc finger) protein-protein interaction domain. The encoded protein negatively regulates the AP-2 family of transcription factors and the Wnt signaling pathway. A mechanism for the modulation of Wnt signaling has been proposed in which the encoded protein ... See more...
Aliases for KCTD1 Gene
Aliases for KCTD1 Gene
External Ids for KCTD1 Gene
- HGNC: 18249
- Entrez Gene: 284252
- Ensembl: ENSG00000134504
- OMIM: 613420
- UniProtKB: Q719H9
Previous HGNC Symbols for KCTD1 Gene
- C18orf5
Previous GeneCards Identifiers for KCTD1 Gene
- GC18U990074
- GC18M022286
- GC18M022288
- GC18M024034
- GC18M020884
Summaries for KCTD1 Gene
-
This gene encodes a protein containing a BTB (Broad-complex, tramtrack and bric a brac), also known as a POZ (POxvirus and zinc finger) protein-protein interaction domain. The encoded protein negatively regulates the AP-2 family of transcription factors and the Wnt signaling pathway. A mechanism for the modulation of Wnt signaling has been proposed in which the encoded protein enhances ubiquitination and degradation of the beta-catenin protein. Mutations in this gene have been identified in Scalp-ear-nipple (SEN) syndrome. [provided by RefSeq, May 2017]
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 and Progressive Myoclonus Epilepsy 1A. Among its related pathways are Sweet Taste Signaling and Hepatic ABC Transporters. Gene Ontology (GO) annotations related to this gene include transcription factor binding and transcription corepressor activity. An important paralog of this gene is KCTD15.
UniProtKB/Swiss-Prot Summary for KCTD1 Gene
-
May repress the transcriptional activity of AP-2 family members, including TFAP2A, TFAP2B and TFAP2C to various extent.
Additional gene information for KCTD1 Gene
- HGNC(18249)
- Entrez Gene(284252)
- Ensembl(ENSG00000134504)
- OMIM(613420)
- UniProtKB(Q719H9)
- Open Targets Platform(ENSG00000134504)
- Monarch Initiative
- Search for KCTD1 at DataMed
- Search for KCTD1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KCTD1 Gene
Genomics for KCTD1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for KCTD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around KCTD1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KCTD1
- Top Transcription factor binding sites by QIAGEN in the KCTD1 gene promoter:
-
- E2F
- E2F-1
- E2F-2
- E2F-3a
- E2F-4
Genomic Locations for KCTD1 Gene
Genomic Locations for KCTD1 Gene
- chr18:26,454,910-26,657,473
- (GRCh38/hg38)
- Size:
- 202,564 bases
- Orientation:
- Minus strand
- chr18:24,034,874-24,237,365
- (GRCh37/hg19)
- Size:
- 202,492 bases
- Orientation:
- Minus strand
Genomic View for KCTD1 Gene
Genes around KCTD1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 18q11.2 by HGNC
- 18q11.2 by Entrez Gene
- 18q11.2 by Ensembl
KCTD1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for KCTD1 Gene
Post-translational modifications for KCTD1 Gene
- Sumoylated.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for KCTD1 Gene
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for KCTD1
- Origene Custom Protein Services for KCTD1
- Novus Biologicals lysates for KCTD1
- antibodies-online: Show 5 available KCTD1 Proteins ranked by validation data
- Compare Top KCTD1 Proteins
-
Quality Products:
-
Abcam proteins for KCTD1
No data available for DME Specific Peptides for KCTD1 Gene
Domains & Families for KCTD1 Gene
Gene Families for KCTD1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for KCTD1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for KCTD1 Gene
- GenScript: Design optimal peptide antigens:
-
- Potassium channel tetramerization domain-containing protein 1 (KCTD1_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot 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.
Phenotypes From GWAS Catalog 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 |
| GO:0042802 | identical protein binding | IPI | 25416956 |
Phenotypes for KCTD1 Gene
- MGI mutant phenotypes for KCTD1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for KCTD1:
Animal Model Products
-
Taconic Biosciences Mouse Models for KCTD1
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for KCTD1 - Select products 50% OFF >
- * KCTD1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for KCTD1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KCTD1
-
Santa Cruz Biotechnology (SCBT) CRISPR for KCTD1
miRNA for KCTD1 Gene
- miRTarBase miRNAs that target KCTD1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KCTD1
- Browse OriGene Inhibitory RNA Products For KCTD1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCTD1
Clone Products
- Applied Biological Materials (abm): Clones for KCTD1 - Select products 50% OFF >
- * KCTD1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG215954
- MG217534
- MR215954
- MR215954L3
- MR215954L4
- MR217534
- MR217534L3
- MR217534L4
- RC219713
- RC219713L3
- RC219713L4
- RC226740
- RC226740L3
- RC226740L4
- RC227186
- RC227186L3
- RC227186L4
- RC232304
- RC232328
- RG219713
- RG226740
- RG227186
- RG232304
- RG232328
- RR217273
- MR215954L3V
- MR215954L4V
- MR217534L3V
- MR217534L4V
- RC219713L3V
- RC219713L4V
- RC226740L3V
- RC226740L4V
- RC227186L3V
- RC227186L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for KCTD1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KCTD1
Cell Line Products
-
Horizon Cell Lines for KCTD1
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for KCTD1 Gene
Localization for KCTD1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for KCTD1 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| extracellular | 4 |
| cytoskeleton | 4 |
| cytosol | 4 |
| plasma membrane | 1 |
- Centriolar satellite (2)
- Cytokinetic bridge (2)
- Nucleoli (2)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA,IDA | 19115315 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005730 | nucleolus | IDA | -- |
| GO:0005829 | cytosol | IDA | -- |
| GO:0034451 | centriolar satellite | IDA | -- |
Pathways & Interactions for KCTD1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Sweet Taste Signaling |
Melatonin Signaling
.72
Sweet Taste Signaling
.72
Cellular Effects of Sildenafil
.46
|
Bitter Taste Signaling
.44
Sperm Motility
.37
|
| 2 | Activation of cAMP-Dependent PKA |
Activation of cAMP-Dependent PKA
.77
cAMP Pathway
.77
|
PKA Signaling
.56
|
| 3 | Neuropathic Pain-Signaling in Dorsal Horn Neurons |
Aldosterone Signaling in Epithelial Cells
.47
Neuropathic Pain-Signaling in Dorsal Horn Neurons
.47
|
Cholera Infection
.40
|
| 4 | Hepatic ABC Transporters |
Hepatic ABC Transporters
.41
|
MODY (Maturity-Onset Diabetes of Young)
.41
|
| 5 | Gene Expression |
.48
|
|
Pathways by source for KCTD1 Gene
13 Qiagen pathways for KCTD1 Gene
- Activation of cAMP-Dependent PKA
- Aldosterone Signaling in Epithelial Cells
- Bitter Taste Signaling
- cAMP Pathway
- Cellular Effects of Sildenafil
Interacting Proteins for KCTD1 Gene
Selected Interacting proteins:
Q719H9-KCTD1_HUMAN
ENSP00000384367
for KCTD1 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for KCTD1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | TAS | -- |
| GO:0045892 | negative regulation of transcription, DNA-templated | IDA | 19115315 |
| GO:0051260 | protein homooligomerization | IEA | -- |
No data available for SIGNOR curated interactions for KCTD1 Gene
Transcripts for KCTD1 Gene
mRNA/cDNA for KCTD1 Gene
- 6 REFSEQ mRNAs :
- 15 NCBI additional mRNA sequence :
- 11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000317932 1715 nts (view in UCSC)
- ENST00000408011 2103 nts (view in UCSC)
- ENST00000417602 1705 nts (view in UCSC)
- ENST00000577255 4590 nts (view in UCSC)
- ENST00000578973 588 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for KCTD1 - Select products 50% OFF >
- * KCTD1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for KCTD1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KCTD1
-
Santa Cruz Biotechnology (SCBT) CRISPR for KCTD1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KCTD1
- Browse OriGene Inhibitory RNA Products For KCTD1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCTD1
Clone Products
- Applied Biological Materials (abm): Clones for KCTD1 - Select products 50% OFF >
- * KCTD1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG215954
- MG217534
- MR215954
- MR215954L3
- MR215954L4
- MR217534
- MR217534L3
- MR217534L4
- RC219713
- RC219713L3
- RC219713L4
- RC226740
- RC226740L3
- RC226740L4
- RC227186
- RC227186L3
- RC227186L4
- RC232304
- RC232328
- RG219713
- RG226740
- RG227186
- RG232304
- RG232328
- RR217273
- MR215954L3V
- MR215954L4V
- MR217534L3V
- MR217534L4V
- RC219713L3V
- RC219713L4V
- RC226740L3V
- RC226740L4V
- RC227186L3V
- RC227186L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for KCTD1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KCTD1
| 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
Expression for KCTD1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Adipose (Muscoskeletal System)
-
Liver (Hepatobiliary System)
- Hematopoietic Stem Cells Liver Bud
-
Blood (Cardiovascular System)
- Hematopoietic Stem Cells Liver Bud
- Gut Tube (Gastrointestinal Tract)
- Neural Tube (Nervous System)
This gene is overexpressed in Placenta (37.9) and Fetal Brain (31.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KCTD1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KCTD1
SOURCE GeneReport for Unigene cluster for KCTD1 Gene:
Hs.526630mRNA Expression by UniProt/SwissProt for KCTD1 Gene:
Q719H9-KCTD1_HUMAN
Tissue specificity:
Expressed in mammary gland, kidney, brain and ovary.
Evidence on tissue expression from TISSUES for KCTD1 Gene
- Nervous system(4.5)
- Skin(4.4)
- Kidney(2.4)
Phenotype-based relationships between genes and organs from Gene ORGANizer for KCTD1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- endocrine
- immune
- integumentary
- nervous
- reproductive
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- ear
- eye
- eyelid
- face
- head
- jaw
- mandible
- maxilla
- mouth
- nose
- outer ear
- skull
- tooth
Thorax:
- breast
- chest wall
- heart
Abdomen:
- kidney
- pancreas
Pelvis:
- ureter
- urethra
- urinary bladder
Limb:
- digit
- finger
- foot
- hand
- lower limb
- nail
- toe
- upper limb
General:
- blood
- blood vessel
- hair
- peripheral nerve
- peripheral nervous system
- skin
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for KCTD1
-
OriGene qPCR primer pairs and template standards for KCTD1
Gene Expression 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | KCTD1 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | KCTD1 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | KCTD1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | KCTD1 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Kctd1 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Kctd1 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | KCTD1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | LOC101748669 30 |
|
||
| KCTD1 31 |
|
OneToOne | |||
| Lizard (Anolis carolinensis) |
Reptilia | KCTD1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | kctd1 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | kctd1 30 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG10440 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.1937 30 |
|
- Species where no ortholog for KCTD1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for KCTD1: view image
Paralogs for KCTD1 Gene
Paralogs for KCTD1 Gene
(6) SIMAP similar genes for KCTD1 Gene using alignment to 5 proteins:
- KCTD1_HUMAN
- J3KQT5_HUMAN
- J3KSG1_HUMAN
- J3QLL6_HUMAN
- J3QRK1_HUMAN
Pseudogenes.org Pseudogenes for KCTD1 Gene
Variants for KCTD1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KCTD1 Gene
| SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 720931 | Benign: not provided | 26,459,878(-) | G/A | SYNONYMOUS_VARIANT | |
| 722232 | Benign: not provided | 26,501,125(-) | G/A | SYNONYMOUS_VARIANT | |
| 763892 | Likely Benign: not provided | 26,455,866(-) | G/A | SYNONYMOUS_VARIANT | |
| rs587776998 | Pathogenic: Scalp-ear-nipple syndrome. Scalp-ear-nipple syndrome (SENS) [MIM:181270] | 26,501,147(-) | G/Tp.Ala30Glu | MISSENSE_VARIANT | |
| rs587776999 | Pathogenic: Scalp-ear-nipple syndrome. Pathogenic: Scalp-ear-nipple syndrome. Pathogenic: Scalp-ear-nipple syndrome. Scalp-ear-nipple syndrome (SENS) [MIM:181270]. Scalp-ear-nipple syndrome (SENS) [MIM:181270] | 26,501,144(-) | G/AG/CG/Tp.Pro31Leup.Pro31Arg | MISSENSE_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv1006523 | CNV | deletion | 20482838 |
| esv1276406 | CNV | deletion | 17803354 |
| esv2119422 | CNV | deletion | 18987734 |
| esv2669356 | CNV | deletion | 23128226 |
| esv2716885 | CNV | deletion | 23290073 |
| esv2716886 | CNV | deletion | 23290073 |
| esv2716887 | CNV | deletion | 23290073 |
| esv2761995 | CNV | loss | 21179565 |
| esv3380 | CNV | loss | 18987735 |
| esv3555151 | CNV | deletion | 23714750 |
| nsv1070873 | CNV | deletion | 25765185 |
| nsv1125316 | CNV | deletion | 24896259 |
| nsv1127623 | CNV | deletion | 24896259 |
| nsv1133423 | CNV | deletion | 24896259 |
| nsv1144830 | CNV | deletion | 24896259 |
| nsv1149862 | CNV | deletion | 26484159 |
| nsv1151195 | CNV | deletion | 26484159 |
| nsv2235 | CNV | deletion | 18451855 |
| nsv477544 | CNV | novel sequence insertion | 20440878 |
| nsv961039 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
30.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.47;
55.05% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for KCTD1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCTD1 Gene
Disorders for KCTD1 Gene
(6) MalaCards diseases for KCTD1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| scalp-ear-nipple syndrome |
|
|
| progressive myoclonus epilepsy 1a |
|
|
| branchiooculofacial syndrome |
|
|
| ectodermal dysplasia 4, hair/nail type |
|
|
| osteogenesis imperfecta, type iii |
|
|
Search KCTD1 in MalaCards
View complete list of genes associated with diseases
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.
Additional Disease Information for KCTD1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for KCTD1 Gene
Publications for KCTD1 Gene
- Mutations in KCTD1 cause scalp-ear-nipple syndrome. (PMID: 23541344) Marneros AG … University of Washington Center for Mendelian Genomics (American journal of human genetics 2013) 3 4
- GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. (PMID: 21658281) Aouizerat BE … Tseng ZH (BMC cardiovascular disorders 2011) 3 41
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
- The interaction of KCTD1 with transcription factor AP-2alpha inhibits its transactivation. (PMID: 19115315) Ding X … Zhang J (Journal of cellular biochemistry 2009) 3 4
- Systematic identification and analysis of mammalian small ubiquitin-like modifier substrates. (PMID: 15561718) Gocke CB … Kang J (The Journal of biological chemistry 2005) 3 4
ExternalLinks
Products for KCTD1 Gene
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