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
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
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 1 43 Keratin, high sulfur B2 protein Family
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_2 105 174 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
    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 Evidence Score
CHRONIC FATIGUE SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations