KRTAP5-6 (keratin associated protein 5-6)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (23)
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
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (3)
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.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Keratinization
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Unknown Diseases (1)
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 Evidence Score
DIVERTICULAR DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations