KLHL3 | ENSG00000146021 | NCBI 26249

Details for: KLHL3

Gene ID: 26249

Symbol: KLHL3

Ensembl ID: ENSG00000146021

Description: kelch like family member 3

Associated with

Adaptive immune system
(R-HSA-1280218)
Antigen processing: ubiquitination & proteasome degradation
(R-HSA-983168)
Class i mhc mediated antigen processing & presentation
(R-HSA-983169)
Immune system
(R-HSA-168256)
Metabolism of proteins
(R-HSA-392499)
Neddylation
(R-HSA-8951664)
Post-translational protein modification
(R-HSA-597592)
Actin binding
(GO:0003779)
Cul3-ring ubiquitin ligase complex
(GO:0031463)
Cullin family protein binding
(GO:0097602)
Cytoskeleton
(GO:0005856)
Cytosol
(GO:0005829)
Distal tubule morphogenesis
(GO:0072156)
Gene expression
(GO:0010467)
Macroautophagy
(GO:0016236)
Monoatomic ion homeostasis
(GO:0050801)
Potassium ion homeostasis
(GO:0055075)
Proteasome-mediated ubiquitin-dependent protein catabolic process
(GO:0043161)
Protein binding
(GO:0005515)
Protein k48-linked ubiquitination
(GO:0070936)
Protein ubiquitination
(GO:0016567)
Renal sodium ion absorption
(GO:0070294)
Structural molecule activity
(GO:0005198)
Ubiquitin-dependent protein catabolic process
(GO:0006511)
Ubiquitin ligase-substrate adaptor activity
(GO:1990756)

Other Information

Proteins

KLHL3_HUMAN

Genular Protein ID: 1933133291

Symbol: KLHL3_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q9UH77 B2RBK7 Q9UH75 Q9UH76 Q9ULU0 Q9Y6V6

Database IDs:

Citations:

PubMed ID: 10843806

Title: Molecular characterization of KLHL3, a human homologue of the Drosophila kelch gene.

PubMed ID: 10843806

DOI: 10.1006/geno.2000.6181

PubMed ID: 10574461

Title: Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain.

PubMed ID: 10574461

DOI: 10.1093/dnares/6.5.329

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15372022

Title: The DNA sequence and comparative analysis of human chromosome 5.

PubMed ID: 15372022

DOI: 10.1038/nature02919

PubMed ID: 14528312

Title: Targeting of protein ubiquitination by BTB-Cullin 3-Roc1 ubiquitin ligases.

PubMed ID: 14528312

DOI: 10.1038/ncb1056

PubMed ID: 23387299

Title: The CUL3-KLHL3 E3 ligase complex mutated in Gordon's hypertension syndrome interacts with and ubiquitylates WNK isoforms: disease-causing mutations in KLHL3 and WNK4 disrupt interaction.

PubMed ID: 23387299

DOI: 10.1042/bj20121903

PubMed ID: 23453970

Title: Impaired KLHL3-mediated ubiquitination of WNK4 causes human hypertension.

PubMed ID: 23453970

DOI: 10.1016/j.celrep.2013.02.024

PubMed ID: 23665031

Title: Disease-causing mutations in KLHL3 impair its effect on WNK4 degradation.

PubMed ID: 23665031

DOI: 10.1016/j.febslet.2013.04.032

PubMed ID: 23576762

Title: Kelch-like 3 and Cullin 3 regulate electrolyte homeostasis via ubiquitination and degradation of WNK4.

PubMed ID: 23576762

DOI: 10.1073/pnas.1304592110

PubMed ID: 25313067

Title: Angiotensin II signaling via protein kinase C phosphorylates Kelch-like 3, preventing WNK4 degradation.

PubMed ID: 25313067

DOI: 10.1073/pnas.1418342111

PubMed ID: 26435498

Title: Impaired degradation of WNK by Akt and PKA phosphorylation of KLHL3.

PubMed ID: 26435498

DOI: 10.1016/j.bbrc.2015.09.184

PubMed ID: 28052936

Title: KLHL3 knockout mice reveal the physiological role of KLHL3 and the pathophysiology of pseudohypoaldosteronism type II caused by mutant KLHL3.

PubMed ID: 28052936

DOI: 10.1128/mcb.00508-16

PubMed ID: 27727489

Title: Phosphorylation of KLHL3 at serine 433 impairs its interaction with the acidic motif of WNK4: a molecular dynamics study.

PubMed ID: 27727489

DOI: 10.1002/pro.3063

PubMed ID: 30718414

Title: Calcineurin dephosphorylates Kelch-like 3, reversing phosphorylation by angiotensin II and regulating renal electrolyte handling.

PubMed ID: 30718414

DOI: 10.1073/pnas.1817281116

PubMed ID: 23573258

Title: Crystal structure of KLHL3 in complex with Cullin3.

PubMed ID: 23573258

DOI: 10.1371/journal.pone.0060445

PubMed ID: 24641320

Title: Structural and biochemical characterization of the KLHL3-WNK kinase interaction important in blood pressure regulation.

PubMed ID: 24641320

DOI: 10.1042/bj20140153

PubMed ID: 35179207

Title: Sequence and structural variations determining the recruitment of WNK kinases to the KLHL3 E3 ligase.

PubMed ID: 35179207

DOI: 10.1042/bcj20220019

PubMed ID: 22266938

Title: Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.

PubMed ID: 22266938

DOI: 10.1038/nature10814

PubMed ID: 22406640

Title: KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron.

PubMed ID: 22406640

DOI: 10.1038/ng.2218

PubMed ID: 27780982

Title: A patient with pseudohypoaldosteronism type II complicated by congenital hypopituitarism carrying a KLHL3 mutation.

PubMed ID: 27780982

DOI: 10.1297/cpe.25.127

PubMed ID: 27026694

Title: A novel mutation in KLHL3 gene causes familial hyperkalemic hypertension.

PubMed ID: 27026694

DOI: 10.1093/qjmed/hcw043

PubMed ID: 28511177

Title: Familial 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.

PubMed ID: 28511177

DOI: 10.1159/000475825

PubMed ID: 34022862

Title: A case report of pseudohypoaldosteronism type II with a homozygous KLHL3 variant accompanied by hyperthyroidism.

PubMed ID: 34022862

DOI: 10.1186/s12902-021-00767-w

PubMed ID: 35093948

Title: A novel homozygous KLHL3 mutation as a cause of autosomal recessive Pseudohypoaldosteronism Type II diagnosed late in life.

PubMed ID: 35093948

DOI: 10.1159/000521626

Sequence Information:

Length: 587
Mass: 64970
Checksum: C5026A246620BEA1
Sequence:

MEGESVKLSS QTLIQAGDDE KNQRTITVNP AHMGKAFKVM NELRSKQLLC DVMIVAEDVE 
IEAHRVVLAA CSPYFCAMFT GDMSESKAKK IEIKDVDGQT LSKLIDYIYT AEIEVTEENV 
QVLLPAASLL QLMDVRQNCC DFLQSQLHPT NCLGIRAFAD VHTCTDLLQQ ANAYAEQHFP 
EVMLGEEFLS LSLDQVCSLI SSDKLTVSSE EKVFEAVISW INYEKETRLE HMAKLMEHVR 
LPLLPRDYLV QTVEEEALIK NNNTCKDFLI EAMKYHLLPL DQRLLIKNPR TKPRTPVSLP 
KVMIVVGGQA PKAIRSVECY DFEEDRWDQI AELPSRRCRA GVVFMAGHVY AVGGFNGSLR 
VRTVDVYDGV KDQWTSIASM QERRSTLGAA VLNDLLYAVG GFDGSTGLAS VEAYSYKTNE 
WFFVAPMNTR RSSVGVGVVE GKLYAVGGYD GASRQCLSTV EQYNPATNEW IYVADMSTRR 
SGAGVGVLSG QLYATGGHDG PLVRKSVEVY DPGTNTWKQV ADMNMCRRNA GVCAVNGLLY 
VVGGDDGSCN LASVEYYNPV TDKWTLLPTN MSTGRSYAGV AVIHKSL

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: KLHL3

Associated with

Other Information

Molecular characterization of KLHL3, a human homologue of the Drosophila kelch gene. PubMed ID: 10843806

Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. PubMed ID: 10574461

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The DNA sequence and comparative analysis of human chromosome 5. PubMed ID: 15372022

Targeting of protein ubiquitination by BTB-Cullin 3-Roc1 ubiquitin ligases. PubMed ID: 14528312

The CUL3-KLHL3 E3 ligase complex mutated in Gordon's hypertension syndrome interacts with and ubiquitylates WNK isoforms: disease-causing mutations in KLHL3 and WNK4 disrupt interaction. PubMed ID: 23387299

Impaired KLHL3-mediated ubiquitination of WNK4 causes human hypertension. PubMed ID: 23453970

Disease-causing mutations in KLHL3 impair its effect on WNK4 degradation. PubMed ID: 23665031

Kelch-like 3 and Cullin 3 regulate electrolyte homeostasis via ubiquitination and degradation of WNK4. PubMed ID: 23576762

Angiotensin II signaling via protein kinase C phosphorylates Kelch-like 3, preventing WNK4 degradation. PubMed ID: 25313067

Impaired degradation of WNK by Akt and PKA phosphorylation of KLHL3. PubMed ID: 26435498

KLHL3 knockout mice reveal the physiological role of KLHL3 and the pathophysiology of pseudohypoaldosteronism type II caused by mutant KLHL3. PubMed ID: 28052936

Phosphorylation of KLHL3 at serine 433 impairs its interaction with the acidic motif of WNK4: a molecular dynamics study. PubMed ID: 27727489

Calcineurin dephosphorylates Kelch-like 3, reversing phosphorylation by angiotensin II and regulating renal electrolyte handling. PubMed ID: 30718414

Crystal structure of KLHL3 in complex with Cullin3. PubMed ID: 23573258

Structural and biochemical characterization of the KLHL3-WNK kinase interaction important in blood pressure regulation. PubMed ID: 24641320

Sequence and structural variations determining the recruitment of WNK kinases to the KLHL3 E3 ligase. PubMed ID: 35179207

Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. PubMed ID: 22266938

KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron. PubMed ID: 22406640

A patient with pseudohypoaldosteronism type II complicated by congenital hypopituitarism carrying a KLHL3 mutation. PubMed ID: 27780982

A novel mutation in KLHL3 gene causes familial hyperkalemic hypertension. PubMed ID: 27026694

Familial 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. PubMed ID: 28511177

A case report of pseudohypoaldosteronism type II with a homozygous KLHL3 variant accompanied by hyperthyroidism. PubMed ID: 34022862

A novel homozygous KLHL3 mutation as a cause of autosomal recessive Pseudohypoaldosteronism Type II diagnosed late in life. PubMed ID: 35093948