KRTAP20-1 (keratin associated protein 20-1)

Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
337975
Gene name Gene Name - the full gene name approved by the HGNC.
Keratin associated protein 20-1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KRTAP20-1
Synonyms (NCBI Gene) Gene synonyms aliases
KAP20.1
Chromosome Chromosome number
21
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
21q22.11
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
GO ID Ontology Definition Evidence Reference
GO:0005829 Component Cytosol TAS
GO:0005882 Component Intermediate filament IEA
GO:0031424 Process Keratinization TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q3LI63
Protein name Keratin-associated protein 20-1
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

Pfam

Accession ID Position in sequence Description Type
PF11759 KRTAP 1 → 50 Keratin-associated matrix Family
Sequence
Sequence length 56
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Keratinization
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
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