KLHL25

Kelch Like Family Member 25

Gene Information Card

Symbol KLHL25
Full Name Kelch Like Family Member 25
Gene Type Protein coding
Chromosomal Location 15q15.3
NCBI Gene ID 644859 ncbi.nlm.nih.gov/gene/644859
Ensembl ID ENSG00000186265
UniProt ID Q5MNZ9
OMIM ID 617199
HGNC ID 28789
Aliases ENSMUSG00000034870, KIAA1509, MGC138290, MGC138292

Description

KLHL25 (Kelch Like Family Member 25) is a protein coding gene. It encodes a member of the Kelch-like protein family, characterized by a BTB (Broad-Complex, Tramtrack, and Bric a brac) domain and Kelch repeats. KLHL25 functions as a substrate-specific adaptor for CUL3-based E3 ubiquitin ligase complexes, targeting proteins for ubiquitination and proteasomal degradation. It is involved in cellular processes including protein homeostasis, cell cycle regulation, and stress response. The gene is widely expressed in various tissues.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
No specific disease association reported in ClinVar or OMIM Not established No evidence

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 12.5 Medium
Brain 8.2 Low
Liver 6.1 Low
Kidney 5.4 Low
Heart 4.8 Low
Lung 3.9 Low
Cell Line Expression
Cell Line nTPM Notes
HEK293 10.3 Embryonic kidney cells
HeLa 8.7 Cervical carcinoma cells
K562 6.2 Leukemia cells
HepG2 5.1 Hepatocellular carcinoma cells
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
No pathogenic variants reported in ClinVar N/A N/A N/A
Mutation functional classification

Loss of Function (LOF)

No documented loss-of-function mutations in human disease.

Gain of Function (GOF)

No documented gain-of-function mutations.

Dominant Negative (DN)

No documented dominant-negative mutations.

Pathways

• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)

Protein Summary

KLHL25 is a 587-amino acid protein (UniProt Q5MNZ9) containing an N-terminal BTB domain and six C-terminal Kelch repeats. It acts as a substrate adaptor for CUL3-RING ubiquitin ligase complexes, mediating ubiquitination and degradation of target proteins. The protein is localized in the cytoplasm and cytosol. Its expression is detected in multiple tissues, with highest levels in testis. No disease-associated variants have been reported in ClinVar or OMIM.

Related Products

Product name Cat.No. Species Gene ID
KLHL25 Knockout HEK293 Cell Line EDJ-KQ13957 Human 64410 Details Get a Quote
KLHL25 Knockout A-549 Cell Line EDJ-KQ43882 Human 64410 Details Get a Quote
KLHL25 Knockout HCT 116 Cell Line EDJ-KQ43883 Human 64410 Details Get a Quote
KLHL25 Knockout HeLa Cell Line EDJ-KQ43884 Human 64410 Details Get a Quote
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