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Gene Gene information from NCBI Gene database.
Entrez ID 85289
Gene name Keratin associated protein 4-5
Gene symbol KRTAP4-5
Synonyms (NCBI Gene)
KAP4.5KRTAP4.5
Chromosome 17
Chromosome location 17q21.2
Summary This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- an
miRNA miRNA information provided by mirtarbase database.
38 Show/Hide all (38)
miRTarBase ID miRNA Experiments Reference
MIRT021564 hsa-miR-142-3p Microarray 17612493
MIRT1102067 hsa-miR-181a CLIP-seq
MIRT1102068 hsa-miR-181b CLIP-seq
MIRT1102069 hsa-miR-181c CLIP-seq
MIRT1102070 hsa-miR-181d CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7 Show/Hide all (7)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005829 Component Cytosol IEA
GO:0005829 Component Cytosol TAS
GO:0005882 Component Intermediate filament IEA
GO:0042633 Process Hair cycle IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BYR2
Protein name Keratin-associated protein 4-5 (Keratin-associated protein 4.5) (Ultrahigh sulfur keratin-associated protein 4.5)
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 35 → 79 Keratin, high sulfur B2 protein Family
PF13885 Keratin_B2_2 75 → 119 Keratin, high sulfur B2 protein Family
PF13885 Keratin_B2_2 1 → 43 Keratin, high sulfur B2 protein Family
PF13885 Keratin_B2_2 105 → 174 Keratin, high sulfur B2 protein Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the hair follicles. {ECO:0000269|PubMed:15955084}.
Sequence
MVSSCCGSVSSEQSCGLENCCRPSCCQTTCCRTTCCRPSCCKPQCCQSVCYQPTCCHPSC
CISSCCRPYCCESSCCRPCCCQTTCCRTTCCRTTCCCPSCCVSSCCRPQCCQSVCCQPTC
CRPSCCISSCCHPSCCESSCCRPCCCVRPVCGRVSCHTTCYRPTCVISTCPRPL
CCASSC
C
Sequence length 181
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Reactome Pathway
Keratinization
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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