KLHL31 Gene - Kelch Like Family Member 31
Comprehensive gene information for KLHL31, a BTB-Kelch protein involved in muscle development and potential disease association.
Gene Information Card
| Symbol | KLHL31 |
|---|---|
| Full Name | kelch like family member 31 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p12.1 |
| NCBI Gene ID | 401399 ncbi.nlm.nih.gov/gene/401399 |
| Ensembl ID | ENSG00000186205 |
| UniProt ID | Q6P3W7 |
| OMIM ID | 617502 |
| HGNC ID | 29359 |
| Aliases | KIAA1909, MGC138290 |
Description
KLHL31 (kelch like family member 31) is a protein-coding gene located on chromosome 6p12.1. It encodes a member of the BTB-Kelch protein family, characterized by an N-terminal BTB/POZ domain and C-terminal Kelch repeats. KLHL31 is involved in actin cytoskeleton organization and muscle development, particularly in cardiac and skeletal muscle. Its expression is enriched in heart and skeletal muscle tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiomyopathy | Potential role in sarcomere organization; loss of function may disrupt actin dynamics. | Limited; inferred from homology and expression studies. |
| Muscular dystrophy | Possible involvement in muscle fiber integrity via actin binding. | Not directly established; speculative based on tissue expression. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 8.2 | Medium |
| Testis | 1.5 | Low |
| Brain | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| H9c2 (rat cardiomyoblasts) | N/A | Model for cardiac expression |
| C2C12 (mouse myoblasts) | N/A | Model for skeletal muscle expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Unknown; predicted damaging by in silico tools |
| c.567delG (p.Glu189fs) | Frameshift | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants likely lead to truncated protein and loss of actin-binding function.
Gain of Function (GOF)
No evidence for gain-of-function mutations in KLHL31.
Dominant Negative (DN)
Not reported; potential if mutant protein interferes with dimerization.
View complete mutation data：
Gene Ontology (GO)
| • actin binding (GO:0003779) | • protein binding (GO:0005515) |
| • actin filament-based process (GO:0030029) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) |
Pathways
• Actin cytoskeleton regulation
• Muscle contraction
Protein Summary
KLHL31 encodes a 748-amino acid protein with a BTB/POZ domain at the N-terminus and six Kelch repeats at the C-terminus. It functions as a substrate-specific adapter for CUL3-based E3 ubiquitin ligase complexes, targeting proteins for ubiquitination and degradation. In muscle cells, KLHL31 localizes to the sarcomere and interacts with actin, suggesting a role in myofibril assembly and maintenance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KLHL31 Knockout HEK293 Cell Line | EDJ-KQ11631 | Human | 401265 | Details Get a Quote |
| KLHL31 Knockout HeLa Cell Line | EDJ-KQ60294 | Human | 401265 | Details Get a Quote |
| KLHL31 Knockout A-549 Cell Line | EDJ-KQ68759 | Human | 401265 | Details Get a Quote |
| KLHL31 Knockout HCT 116 Cell Line | EDJ-KQ77126 | Human | 401265 | Details Get a Quote |
