KLHDC3 - kelch domain containing 3 Gene

Homo sapiens

Also known as PEAS; dJ20C7.3

Gene ID: 116138 | Gene type: protein coding

About KLHDC3

Cytogenetic location: 6p21.1 Genomic coordinates (GRCh38): 6:43,014,249-43,021,294 (from NCBI)

This gene has 2 transcripts (splice variants), 204 orthologues and 10 paralogues. Broad expression in testis (RPKM 98.0), brain (RPKM 70.2) and 25 other tissues.

Summary

The protein encoded by this gene contains six repeated kelch motifs that are structurally similar to recombination activating gene 2, a protein involved in the activation of the V(D)J recombination. In mouse, this gene is found to be expressed specifically in testis. Its expression in pachytene spermatocytes is localized to cytoplasma and meiotic chromatin, suggesting that this gene may be involved in meiotic recombination. [provided by RefSeq, Jun 2012]

KLHDC3 Products(1)

mRNA	Protein	Name
NM_057161.4	NP_476502.1	kelch domain-containing protein 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables chromatin binding	IDA IDA: Inferred from direct assay	12606021	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12482870	GOA
enables ubiquitin-like ligase-substrate adaptor activity	IDA IDA: Inferred from direct assay	26138980	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in proteasome-mediated ubiquitin-dependent protein catabolic process	IDA IDA: Inferred from direct assay	26138980	GOA
involved in ubiquitin-dependent protein catabolic process via the C-end degron rule pathway	IDA IDA: Inferred from direct assay	29779948	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of Cul2-RING ubiquitin ligase complex	IDA IDA: Inferred from direct assay	26138980	GOA
located in chromatin	IDA IDA: Inferred from direct assay	12606021	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	12606021	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KLHDC3 Protein Structure

Kelch_6

Kelch_4

Kelch_2

Kelch_6

0
100
200
300
382 a.a.

Protein Preferred Names

Protein Names

kelch domain-containing protein 3

testis intracellular mediator protein

Related Diseases

Diseases

Alias

Noonan Syndrome 6

NS6	Noonan Syndrome, Type 6

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07349	KLHDC3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	KLHDC3	VGNC	VGNC:74091
Felis catus	KLHDC3	VGNC	VGNC:63137
Bos taurus	KLHDC3	VGNC	VGNC:30636
Mus musculus	KLHDC3	MGD	MGI:2651568
Rattus norvegicus	KLHDC3	RGD	RGD:1307105

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