KRT9 (keratin 9)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3857
Gene name Gene Name - the full gene name approved by the HGNC.
Keratin 9
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KRT9
Synonyms (NCBI Gene) Gene synonyms aliases
CK-9, EPPK, EPPK1, K9
Disease Acronyms (UniProt) Disease acronyms from UniProt database
EPPK1
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes the type I keratin 9, an intermediate filament chain expressed only in the terminally differentiated epidermis of palms and soles. Mutations in this gene cause epidermolytic palmoplantar keratoderma. [provided by RefSeq, Jul 2008]
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(11)
SNP ID Visualize variation Clinical significance Consequence
rs28940896 G>A,C Pathogenic, not-provided Missense variant, coding sequence variant
rs56707768 T>A,C Pathogenic, not-provided Missense variant, coding sequence variant
rs57019720 C>T Pathogenic, not-provided Missense variant, coding sequence variant
rs57536312 A>T Pathogenic, not-provided Missense variant, coding sequence variant
rs57758262 C>G,T Uncertain-significance, pathogenic, not-provided Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
miRTarBase ID miRNA Experiments Reference
MIRT2027697 hsa-miR-3688-3p CLIP-seq
MIRT2027698 hsa-miR-3978 CLIP-seq
MIRT2259032 hsa-miR-3663-3p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(13)
GO ID Ontology Definition Evidence Reference
GO:0005200 Function Structural constituent of cytoskeleton TAS 8647270
GO:0005615 Component Extracellular space HDA 22664934, 23580065
GO:0005634 Component Nucleus HDA 21630459
GO:0005829 Component Cytosol TAS
GO:0005882 Component Intermediate filament IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607606 6447 ENSG00000171403
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P35527
Protein name Keratin, type I cytoskeletal 9 (Cytokeratin-9) (CK-9) (Keratin-9) (K9)
Protein function May serve an important special function either in the mature palmar and plantar skin tissue or in the morphogenetic program of the formation of these tissues. Plays a role in keratin filament assembly. {ECO:0000269|PubMed:10218578, ECO:0000269|P
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00038 Filament 152 → 464 Intermediate filament protein Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Expressed in the terminally differentiated epidermis of palms and soles. {ECO:0000269|PubMed:7507869}.
Sequence 
MSCRQFSSSYLSRSGGGGGGGLGSGGSIRSSYSRFSSSGGGGGGGRFSSSSGYGGGSSRV
CGRGGGGSFGYSYGGGSGGGFSASSLGGGFGGGSRGFGGASGGGYSSSGGFGGGFGGGSG
GGFGGGYGSGFGGFGGFGGGAGGGDGGILTANEKSTMQELNSRLASYLDKVQALEEANND
LENKIQDWYDKKGPAAIQKNYSPYYNTIDDLKDQIVDLTVGNNKTLLDIDNTRMTLDDFR
IKFEMEQNLRQGVDADINGLRQVLDNLTMEKSDLEMQYETLQEELMALKKNHKEEMSQLT
GQNSGDVNVEINVAPGKDLTKTLNDMRQEYEQLIAKNRKDIENQYETQITQIEHEVSSSG
QEVQSSAKEVTQLRHGVQELEIELQSQLSKKAALEKSLEDTKNRYCGQLQMIQEQISNLE
AQITDVRQEIECQNQEYSLLLSIKMRLEKEIETYHNLLEGGQEDFESSGAGKIGLGGRGG
SGGSYGRGSRGGSGGSYGGGGSGGGYGGGSGSRGGSGGSYGGGSGSGGGSGGGYGGGSGG
GHSGGSGGGHSGGSGGNYGGGSGSGGGSGGGYGGGSGSRGGSGGSHGGGSGFGGESGGSY
GGGEEASGSGGGYGGGSGKSSHS
Sequence length 623
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Estrogen signaling pathway
Staphylococcus aureus infection 		  Keratinization
Formation of the cornified envelope
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Palmoplantar keratoderma Keratoderma, Palmoplantar rs59616921, rs1568039793, rs746488412, rs200564757, rs1567027297, rs781596375, rs1567027610, rs398123054, rs398123055, rs398123056, rs398123057, rs398122949, rs398122950, rs397515639, rs398122951
View all (10 more)
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Psoriasis Psoriasis GWAS
Show/Hide Text Mining Associations (18)
Associations from Text Mining
Disease Name Relationship Type References
AA amyloidosis Associate 32861330
Alzheimer Disease Associate 26973255
Carcinoma Squamous Cell Associate 23702732
Diabetes Mellitus Inhibit 28403359
Epidermolysis Bullosa Associate 19874353, 7528239
Femur Head Necrosis Inhibit 29207081
Hairy palms and soles Associate 7532198
Hyperkeratosis Epidermolytic Associate 10536990, 7523529, 7532198, 9204965
Hyperplasia Associate 23702732
Keratoderma Palmoplantar Associate 10536990, 36076978, 7532199, 9833037