| Gene Information | |
|---|---|
| Gene Name | KLHL40 |
| Organism | Homo sapiens (Human) |
| Gene Length | 621 |
| Protein Names | Kelch-like protein 40 (Kelch repeat and BTB domain-containing protein 5) (Sarcosynapsin) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 645 ( ENSG00000157119 ) |
| Evolutionary Stage | Eumetazoa |
| AlphaFoldDB | Q2TBA0 |
| Gene Card | KLHL40 |
| Uniprot ID | Q2TBA0 |
| Pfam | PF07707; PF00651; PF01344 |
| In ASD | no |
| Allosteric Prediction | no (-0.685504478) |
| Ortholog in Animals | Alpaca_ KLHL40 ( ortholog_one2one ) Dog_ KLHL40 ( ortholog_one2one ) GuineaPig_ KLHL40 ( ortholog_one2one ) Macaque_ KLHL40 ( ortholog_one2one ) Mouse_ Klhl40 ( ortholog_one2one ) Pig_ KLHL40 ( ortholog_one2one ) Rat_ Klhl40 ( ortholog_one2one ) Rabbit_ KLHL40 ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | KLHDC7B, GAN, BACH1, KLHL20, KLHL10, KLHL42, KLHL21, KLHL32, KBTBD7, KBTBD6, BACH2, KLHL30, KLHL15, KLHL38, KLHL41, KLHL26, KLHL17, KBTBD3, KLHL13, KLHL9, KLHL18, KLHL23, KLHDC7A, KLHL31, IVNS1ABP, KLHL1, KEAP1, KLHL8, KLHL2, KLHL29, KBTBD12, KLHL34, KLHL7, KLHL33, KLHL36, KLHL28, KBTBD11, KLHL14, CCIN, BTBD18, IPP, KLHDC8B, KLHL6, KLHL24, KLHL5, KBTBD13, KBTBD8, KLHL3, KLHL35, KLHL22, KBTBD2, KLHL12, KLHL4, KLHDC8A |
| Tissue | skeletal.muscle |
| Tissue Specificity | Highly expressed in fetal (19, 23 and 31 weeks of gestation) and adult skeletal muscle; expression levels tend to be higher in fetal compared to postnatal muscles (at protein level). Also expressed in fetal and adult heart. {ECO:0000269|PubMed:23746549}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 4ASC (X-ray 1.78A ) |
| DBSNP | rs778565563 rs397509420 rs774887948 rs6805421 rs773649133 rs770866675 rs367579275 rs758188096 rs778022582 rs397509419 rs397509421 rs201856772 rs123509 |
| Subcellular location [CC] | Cytoplasm {ECO:0000250|UniProtKB:Q9D783}. Cytoplasm, myofibril, sarcomere, A band {ECO:0000269|PubMed:23746549}. Cytoplasm, myofibril, sarcomere, I band {ECO:0000250|UniProtKB:Q9D783}. |
| Mouse PG classification | NA |
| click here to return to the previous page | |