KCTD1 (potassium channel tetramerization domain containing 1)

2014-11-01 Affiliation

Identity

HGNC

KCTD1

LOCATION

18q11.2

LOCUSID

284252

ALIAS

C18orf5

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 284252
MIM: 613420
HGNC: 18249
Ensembl: ENSG00000134504

Variants:

dbSNP: 284252
ClinVar: 284252
TCGA: ENSG00000134504
COSMIC: KCTD1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000134504	ENST00000317932	Q719H9
ENSG00000134504	ENST00000317932	A0A024RC45
ENSG00000134504	ENST00000408011	Q719H9
ENSG00000134504	ENST00000408011	A0A024RC45
ENSG00000134504	ENST00000417602	Q719H9
ENSG00000134504	ENST00000417602	A0A024RC45
ENSG00000134504	ENST00000578973	J3QLL6
ENSG00000134504	ENST00000579973	Q719H9
ENSG00000134504	ENST00000579973	A0A024RC45
ENSG00000134504	ENST00000580059	A0A2U3U043
ENSG00000134504	ENST00000580191	J3QRK1
ENSG00000134504	ENST00000580638	J3KSG1

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Gene Expression	REACTOME	R-HSA-74160
Generic Transcription Pathway	REACTOME	R-HSA-212436
Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors	REACTOME	R-HSA-8864260
Negative regulation of activity of TFAP2 (AP-2) family transcription factors	REACTOME	R-HSA-8866904

References

Pubmed ID	Year	Title	Citations
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
19115315	2009	The interaction of KCTD1 with transcription factor AP-2alpha inhibits its transactivation.	16
24736394	2014	KCTD1 suppresses canonical Wnt signaling pathway by enhancing β-catenin degradation.	14
26334369	2016	Structural Insights into KCTD Protein Assembly and Cullin3 Recognition.	10
23541344	2013	Mutations in KCTD1 cause scalp-ear-nipple syndrome.	0
27596723	2016	Bivalent Copper Ions Promote Fibrillar Aggregation of KCTD1 and Induce Cytotoxicity.	0

Citation

Dessen P

KCTD1 (potassium channel tetramerization domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64817/kctd1