InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: KLHL3

Summary

InnateDB Protein

IDBP-46128.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

KLHL3

Protein Name

kelch-like 3 (Drosophila)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000312397

InnateDB Gene

IDBG-46126 (KLHL3)

Protein Structure

UniProt Annotation

Function

Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a regulator of ion transport in the distal nephron. The BCR(KLHL3) complex acts by mediating ubiquitination of WNK4, an inhibitor of potassium channel KCNJ1, leading to WNK4 degradation. {ECO:0000269PubMed:14528312, ECO:0000269PubMed:22406640, ECO:0000269PubMed:23387299, ECO:0000269PubMed:23453970, ECO:0000269PubMed:23576762, ECO:0000269PubMed:23665031}.

Subcellular Localization

Cytoplasm, cytoskeleton {ECO:0000269PubMed:22406640}. Cytoplasm, cytosol {ECO:0000269PubMed:22406640}.

Disease Associations

Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]: A disorder characterized by severe hypertension, hyperkalemia, hyperchloremia, hyperchloremic metabolic acidosis, and correction of physiologic abnormalities by thiazide diuretics. PHA2D inheritance is autosomal dominant or recessive. {ECO:0000269PubMed:22266938, ECO:0000269PubMed:22406640}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed. {ECO:0000269PubMed:22406640}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.

Experimentally validated
Total	14 [view]
Protein-Protein	13 [view]
Protein-DNA	0
Protein-RNA	1 [view]
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003779	actin binding
GO:0005198	structural molecule activity
GO:0005515	protein binding

Biological Process

GO:0016567	protein ubiquitination
GO:0042787	protein ubiquitination involved in ubiquitin-dependent protein catabolic process
GO:0050801	ion homeostasis
GO:0070294	renal sodium ion absorption
GO:0070936	protein K48-linked ubiquitination
GO:0072156	distal tubule morphogenesis

Cellular Component

GO:0005829	cytosol
GO:0005856	cytoskeleton
GO:0031463	Cul3-RING ubiquitin ligase complex

Protein Structure and Domains

PDB ID

InterPro

IPR000210 BTB/POZ-like
IPR006652 Kelch repeat type 1
IPR011333 BTB/POZ fold
IPR011498 Kelch repeat type 2
IPR011705 BTB/Kelch-associated
IPR013069 BTB/POZ
IPR017096 Kelch-like protein, gigaxonin type

PFAM

PF01344
PF07646
PF07707
PF00651

PRINTS

PIRSF

PIRSF037037

SMART

SM00225
SM00612
SM00875

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt