KRTAP21-1 (keratin associated protein 21-1)

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Gene Gene information from NCBI Gene database.
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Entrez ID 337977
Gene name Keratin associated protein 21-1
Gene symbol KRTAP21-1
Synonyms (NCBI Gene)
KAP21.1
Chromosome 21
Chromosome location 21q22.11
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
2
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GO ID Ontology Definition Evidence Reference
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.
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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.
Q3LI58
Protein name Keratin-associated protein 21-1
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
Sequence 
MCCNYYGNSCGYGSGCGCGYGSGSGCGCGYGTGYGCGYGCGFGSHYGCGYGTGYGCGYGS
GSGYCGYRPFCFRRCYSSC
Sequence length 79
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
GENERALISED EPILEPSY — GWAS catalog 37653029
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Malignant neoplasm of breast Breast Cancer UNIPROT_DG
★★★★★
★☆☆☆☆
Found in Text Mining only

No strongly related genes found yet for KRTAP21-1.

No additional diseases found yet through genes similar to KRTAP21-1.