Version 5.4
Homo sapiens Gene: KLHL3
Summary
InnateDB Gene IDBG-46126.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol KLHL3
Gene Name kelch-like 3 (Drosophila)
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000146021
Encoded Proteins
IDBP-46128
kelch-like 3 (Drosophila)
IDBP-484929
kelch-like 3 (Drosophila)
IDBP-481026
kelch-like 3 (Drosophila)
IDBP-480317
kelch-like 3 (Drosophila)
IDBP-479397
kelch-like 3 (Drosophila)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene is ubiquitously expressed and encodes a full-length protein which has an N-terminal BTB domain followed by a BACK domain and six kelch-like repeats in the C-terminus. These kelch-like repeats promote substrate ubiquitination of bound proteins via interaction of the BTB domain with the CUL3 (cullin 3) component of a cullin-RING E3 ubiquitin ligase (CRL) complex. Muatations in this gene cause pseudohypoaldosteronism type IID (PHA2D); a rare Mendelian syndrome featuring hypertension, hyperkalaemia and metabolic acidosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012]
Gene Information
Type Protein coding
Genomic Location Chromosome 5:137617500-137736090
Strand Reverse strand
Band q31.2
Transcripts
ENST00000309755 ENSP00000312397
ENST00000447439
ENST00000506491 ENSP00000424828
ENST00000508657 ENSP00000422099
ENST00000509694
ENST00000506873
ENST00000504208 ENSP00000423585
ENST00000502381
ENST00000505853 ENSP00000426173
ENST00000504496
ENST00000514149
ENST00000515334
ENST00000510529
ENST00000512977
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000014164
View Gene Order
ENSBTAG00000002796
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.655084
RefSeq NM_001257194 NM_001257195 NM_017415
HUGO
OMIM
CCDS CCDS4192 CCDS58969 CCDS58970
HPRD 09011
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca