KRTAP4-6 (keratin associated protein 4-6)

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Gene Gene information from NCBI Gene database.
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Entrez ID 81871
Gene name Keratin associated protein 4-6
Gene symbol KRTAP4-6
Synonyms (NCBI Gene)
KAP4.15KAP4.6KRTAP4-15KRTAP4.15
Chromosome 17
Chromosome location 17q21.2
miRNA miRNA information provided by mirtarbase database.
22 Show/Hide all (22)
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miRTarBase ID miRNA Experiments Reference
MIRT018064 hsa-miR-335-5p Microarray 18185580
MIRT2027769 hsa-miR-15a CLIP-seq
MIRT2027770 hsa-miR-15b CLIP-seq
MIRT2027771 hsa-miR-16 CLIP-seq
MIRT2027772 hsa-miR-195 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
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GO ID Ontology Definition Evidence Reference
GO:0005829 Component Cytosol IEA
GO:0005829 Component Cytosol TAS
GO:0005882 Component Intermediate filament IEA
GO:0045095 Component Keratin 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.
Q9BYQ5
Protein name Keratin-associated protein 4-6 (Keratin-associated protein 4-15) (Keratin-associated protein 4.15) (Keratin-associated protein 4.6) (Ultrahigh sulfur keratin-associated protein 4.15)
Protein function In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their e
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13885 Keratin_B2_2 15 → 59 Keratin, high sulfur B2 protein Family
PF13885 Keratin_B2_2 60 → 103 Keratin, high sulfur B2 protein Family
PF13885 Keratin_B2_2 30 → 68 Keratin, high sulfur B2 protein Family
PF13885 Keratin_B2_2 92 → 143 Keratin, high sulfur B2 protein Family
PF13885 Keratin_B2_2 124 → 178 Keratin, high sulfur B2 protein Family
PF13885 Keratin_B2_2 1 → 33 Keratin, high sulfur B2 protein Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the hair follicles. {ECO:0000269|PubMed:15955084}.
Sequence 
MVSSCCGSVCSDQGCGLETCCRPSCCQTTCCRTTCCRPSCCVSSCCRPQCCQSVCCQPTC
CRPSCCPSCCQTTCCRTTCCRPSCCVSSCCRPQCCQSVCCQPTCCRPSCSISSCCRPSCC
VSRCCRSQCCQSVCCQPTCCRPSCCISSCCRPSCCESSCCRPCCCRPCCCLRPVCGRVSC
HTTCYRPTCVISTCPRPLCCASSCC
Sequence length 205
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.).
1
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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
CHRONIC FATIGUE SYNDROME — GWAS catalog 35318112
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations

No strongly related genes found yet for KRTAP4-6.

No additional diseases found yet through genes similar to KRTAP4-6.