KRTAP1-5 (keratin associated protein 1-5)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 83895
Gene name Keratin associated protein 1-5
Gene symbol KRTAP1-5
Synonyms (NCBI Gene)
KAP1.5KRTAP1.5
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.
15
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (15)
miRTarBase ID miRNA Experiments Reference
MIRT1101990 hsa-miR-1261 CLIP-seq
MIRT1101991 hsa-miR-3074-3p CLIP-seq
MIRT1101992 hsa-miR-3168 CLIP-seq
MIRT1101993 hsa-miR-361-5p CLIP-seq
MIRT1101994 hsa-miR-3692 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (5)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 27107012, 32296183
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.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
608822 16777 ENSG00000221852
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.
Q9BYS1
Protein name Keratin-associated protein 1-5 (High sulfur keratin-associated protein 1.5) (Keratin-associated protein 1.5)
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
PF01500 Keratin_B2 1 → 42 Keratin, high sulfur B2 protein Family
PF01500 Keratin_B2 38 → 83 Keratin, high sulfur B2 protein Family
PF01500 Keratin_B2 73 → 174 Keratin, high sulfur B2 protein Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the middle/upper portions of the hair cortex, in the region termed the keratogenous zone. {ECO:0000269|PubMed:11279113}.
Sequence 
MTCCQTSFCGYPSFSISGTCGSSCCQPSCCETSCCQPRSCQTSFCGFPSFSTSGTCSSSC
CQPSCCETSCCQPSCCETSCCQPSCCQISSCGTGCGIGGGISYGQEGSSGAVSTRIRWCR
PDSRVEGTYLPPCCVVSCTPPSCCQLHHAQASCCRPSYCGQSCCRPVCCCEPTC
Sequence length 174
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
OCULAR HYPERTENSION — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations