KRTAP5-6 (keratin associated protein 5-6)

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Gene Gene information from NCBI Gene database.
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Entrez ID 440023
Gene name Keratin associated protein 5-6
Gene symbol KRTAP5-6
Synonyms (NCBI Gene)
KRTAP5.6
Chromosome 11
Chromosome location 11p15.5
miRNA miRNA information provided by mirtarbase database.
23 Show/Hide all (23)
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miRTarBase ID miRNA Experiments Reference
MIRT515764 hsa-miR-3133 PAR-CLIP 23446348
MIRT515763 hsa-miR-186-5p PAR-CLIP 23446348
MIRT515762 hsa-miR-1243 PAR-CLIP 23446348
MIRT515761 hsa-miR-4499 PAR-CLIP 23446348
MIRT515760 hsa-miR-4463 PAR-CLIP 23446348
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
3
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GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 29892012, 31515488, 32296183
GO:0005829 Component Cytosol TAS
GO:0005882 Component Intermediate filament IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
HGNC N/A HGNC
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.
Q6L8G9
Protein name Keratin-associated protein 5-6 (Keratin-associated protein 5.6) (Ultrahigh sulfur keratin-associated protein 5.6)
Protein function In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their ex
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed in hair root and not in skin. Expressed also in liver and skeletal muscle. {ECO:0000269|PubMed:15144888}.
Sequence 
MGCCGCSGGCGSGCGGCGSGCGGCGSSCCVPICCCKPVCCCVPACSCTSCGSCGGSKGCC
GSCGGSKGGCGSCGGSKGGCGSCGCSQCSCCKPCYCSSGCGSSCCQSSCCKPCCSQASCC
VPICCQCKI
Sequence length 129
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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Reactome Pathway
Keratinization
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
DIVERTICULAR DISEASE — GWAS catalog 30177863
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations

No strongly related genes found yet for KRTAP5-6.

No additional diseases found yet through genes similar to KRTAP5-6.