KLHDC1 (kelch domain containing 1)

2014-11-01  

Identity

HGNC
KLHDC1
LOCATION
14q21.3
LOCUSID
122773
ALIAS
MST025

Other Information

Locus ID:

NCBI: 122773
MIM: 611281
HGNC: 19836
Ensembl: ENSG00000197776

Variants:

dbSNP: 122773
ClinVar: 122773
TCGA: ENSG00000197776
COSMIC: KLHDC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000197776ENST00000359332Q8N7A1
ENSG00000197776ENST00000553274G3V5V5
ENSG00000197776ENST00000555704G3V4I4
ENSG00000197776ENST00000556392G3V2D3
ENSG00000197776ENST00000557128G3V3T1

Expression (GTEx)

0
5
10
15
20
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
237228322013Crystal-contact engineering to obtain a crystal form of the Kelch domain of human Keap1 suitable for ligand-soaking experiments.13
237228322013Crystal-contact engineering to obtain a crystal form of the Kelch domain of human Keap1 suitable for ligand-soaking experiments.13
205495152010Genome-wide searching of rare genetic variants in WTCCC data.31
205495152010Genome-wide searching of rare genetic variants in WTCCC data.31
180959422008CCR4 and CCR10 ligands play additive roles in mouse contact hypersensitivity.13
180959422008CCR4 and CCR10 ligands play additive roles in mouse contact hypersensitivity.13
169644372007Differential subcellular localization and activity of kelch repeat proteins KLHDC1 and KLHDC2.11
169644372007Differential subcellular localization and activity of kelch repeat proteins KLHDC1 and KLHDC2.11

Citation

Dessen P

KLHDC1 (kelch domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64952/js/img/logo-atlas-4.svg