KLHL3 (kelch like family member 3)

2014-11-01  

Identity

HGNC
KLHL3
LOCATION
5q31.2
LOCUSID
26249
ALIAS
PHA2D
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 26249
MIM: 605775
HGNC: 6354
Ensembl: ENSG00000146021

Variants:

dbSNP: 26249
ClinVar: 26249
TCGA: ENSG00000146021
COSMIC: KLHL3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000146021ENST00000309755Q9UH77
ENSG00000146021ENST00000504208D6R9K4
ENSG00000146021ENST00000505853D6RH21
ENSG00000146021ENST00000506491Q9UH77
ENSG00000146021ENST00000508657Q9UH77

Expression (GTEx)

0
10
20
30
40
50
60
70
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

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen processing: Ubiquitination & Proteasome degradationREACTOMER-HSA-983168

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
374815682023KLHL3-dependent WNK4 degradation affected by potassium through the neddylation and autophagy pathway.0
374815682023KLHL3-dependent WNK4 degradation affected by potassium through the neddylation and autophagy pathway.0
355853792022Kelch-like protein 3 in human disease and therapy.2
355853792022Kelch-like protein 3 in human disease and therapy.2
307184142019Calcineurin dephosphorylates Kelch-like 3, reversing phosphorylation by angiotensin II and regulating renal electrolyte handling.27
309315642019Unveiling the Distinct Mechanisms by which Disease-Causing Mutations in the Kelch Domain of KLHL3 Disrupt the Interaction with the Acidic Motif of WNK4 through Molecular Dynamics Simulation.3
310965422019KLHL3 single-nucleotide polymorphism is associated with essential hypertension in Chinese Han population.0
307184142019Calcineurin dephosphorylates Kelch-like 3, reversing phosphorylation by angiotensin II and regulating renal electrolyte handling.27
309315642019Unveiling the Distinct Mechanisms by which Disease-Causing Mutations in the Kelch Domain of KLHL3 Disrupt the Interaction with the Acidic Motif of WNK4 through Molecular Dynamics Simulation.3
310965422019KLHL3 single-nucleotide polymorphism is associated with essential hypertension in Chinese Han population.0
277274892017Phosphorylation of KLHL3 at serine 433 impairs its interaction with the acidic motif of WNK4: a molecular dynamics study.7
282220342017Three cases of Gordon syndrome with dominant KLHL3 mutations.5
283156682017cMyBP-C was decreased via KLHL3-mediated proteasomal degradation in congenital heart diseases.4
285111772017Familial Hyperkalemia and Hypertension (FHHt) and KLHL3: Description of a Family with a New Recessive Mutation (S553L) Compared to a Family with a Dominant Mutation, Q309R, with Analysis of Urinary Sodium Chloride Cotransporter.6
277274892017Phosphorylation of KLHL3 at serine 433 impairs its interaction with the acidic motif of WNK4: a molecular dynamics study.7

Citation

Dessen P

KLHL3 (kelch like family member 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64972/klhl3-(kelch-like-family-member-3)