KLHL24 (kelch like family member 24)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 54800 |
| Gene name | Kelch like family member 24 |
| Gene symbol | KLHL24 |
| Synonyms (NCBI Gene) |
CMH29DRE1EBS6EBSSHKRIP6
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| Chromosome | 3 |
| Chromosome location | 3q27.1 |
| Summary | The protein encoded by this gene is a ubiquitin ligase substrate receptor and is regulated by autoubiquitination. Variations in the translation initiation codon of this gene have been found, which result in an N-terminally truncated but more stable protei |
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SNPs
SNP information provided by dbSNP.
3
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miRNA
miRNA information provided by mirtarbase database.
530
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q6TFL4 | ||||||||||||||||||||||||||||||||||||||||
| Protein name | Kelch-like protein 24 (Kainate receptor-interacting protein for GluR6) (KRIP6) (Protein DRE1) | ||||||||||||||||||||||||||||||||||||||||
| Protein function | Necessary to maintain the balance between intermediate filament stability and degradation, a process that is essential for skin integrity (PubMed:27889062). As part of the BCR(KLHL24) E3 ubiquitin ligase complex, mediates ubiquitination of KRT14 | ||||||||||||||||||||||||||||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Expressed in the skin (PubMed:27798626, PubMed:27889062). Found in keratinocytes, dermal fibroblasts, and melanocytes (PubMed:27889062). Basal-layer keratinocytes have lower KLHL24 expression than suprabasal keratinocytes (PubMed:27798 | ||||||||||||||||||||||||||||||||||||||||
| Sequence |
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| Sequence length | 600 | ||||||||||||||||||||||||||||||||||||||||
| Interactions | View interactions | ||||||||||||||||||||||||||||||||||||||||
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Associated diseases
Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
28
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