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] See more...

Aliases for KRT9 Gene

Aliases for KRT9 Gene

  • Keratin 9 2 3 5
  • CK-9 2 3 4
  • K9 2 3 4
  • Keratin, Type I Cytoskeletal 9 3 4
  • Type I Cytoskeletal 9 2 3
  • Keratin 9, Type I 2 3
  • Cytokeratin 9 2 3
  • EPPK 2 3
  • Epidermolytic Palmoplantar Keratoderma 2
  • Cytokeratin-9 4
  • Keratin-9 4
  • KRT9 5

External Ids for KRT9 Gene

Previous GeneCards Identifiers for KRT9 Gene

  • GC17M038843
  • GC17P041832
  • GC17M039630
  • GC17M040095
  • GC17M036975
  • GC17M039722
  • GC17M035485

Summaries for KRT9 Gene

Entrez Gene Summary for KRT9 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]

GeneCards Summary for KRT9 Gene

KRT9 (Keratin 9) is a Protein Coding gene. Diseases associated with KRT9 include Palmoplantar Keratoderma, Epidermolytic and Knuckle Pads. Among its related pathways are Relaxin signaling pathway and Developmental Biology. Gene Ontology (GO) annotations related to this gene include structural molecule activity and structural constituent of cytoskeleton. An important paralog of this gene is KRT10.

UniProtKB/Swiss-Prot Summary for KRT9 Gene

  • 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.

Gene Wiki entry for KRT9 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRT9 Gene

Genomics for KRT9 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KRT9 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J041578 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 255.8 -12.3 -12278 10.9 ZNF654 NFIC POLR2A CTCF REST TRIM22 BHLHE40 TBP MAX EP300 KRT9 KRT14 ODAD4 KRT16 JUP KRT36 KRT15 KRT17 KRT13 KRT19
GH17J041572 Promoter 0.6 EPDnew 250.7 0.0 -20 0.1 EGR1 PKNOX1 EGR2 ZFHX2 KRT9 KRT16 HSALNG0116442 KRT14
GH17J041571 Enhancer 0.2 Ensembl 250.7 +1.0 958 0.2 KRT9 KRT16 LINC00974 KRT19
GH17J041620 Promoter/Enhancer 1.7 EPDnew FANTOM5 Ensembl ENCODE 16.6 -52.1 -52139 6.5 IKZF1 ZNF600 ATF2 CEBPA BRCA1 NFIC ZIC2 REST CEBPB ZNF341 KRT17 KRT9 KRT15 KRT14 KRT19 KRT40 ENSG00000234477 KRT37 KRT16 KRT36
GH17J041505 Promoter/Enhancer 1.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.2 +65.4 65383 3.4 ATF2 ZIC2 FEZF1 ZNF217 IRF2 FOXA2 CTBP1 ELF1 TEAD3 PRDM6 KRT13 lnc-KRT15-2 KRT9 KRT37 ENSG00000234477 KRT36 KRTAP3-1 JUP KRT19 HSALNG0116436
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KRT9 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRT9

Top Transcription factor binding sites by QIAGEN in the KRT9 gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA
  • NF-kappaB1
  • STAT3
  • TBP

Genomic Locations for KRT9 Gene

Latest Assembly
chr17:41,565,836-41,572,059
(GRCh38/hg38)
Size:
6,224 bases
Orientation:
Minus strand

Previous Assembly
chr17:39,722,088-39,728,311
(GRCh37/hg19 by Entrez Gene)
Size:
6,224 bases
Orientation:
Minus strand

chr17:39,722,096-39,728,310
(GRCh37/hg19 by Ensembl)
Size:
6,215 bases
Orientation:
Minus strand

Genomic View for KRT9 Gene

Genes around KRT9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRT9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRT9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRT9 Gene

Proteins for KRT9 Gene

  • Protein details for KRT9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35527-K1C9_HUMAN
    Recommended name:
    Keratin, type I cytoskeletal 9
    Protein Accession:
    P35527
    Secondary Accessions:
    • O00109
    • Q0IJ47
    • Q14665

    Protein attributes for KRT9 Gene

    Size:
    623 amino acids
    Molecular mass:
    62064 Da
    Quaternary structure:
    • Heterotetramer of two type I and two type II keratins.
    Miscellaneous:
    • There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic) (40-55 and 56-70 kDa, respectively).

neXtProt entry for KRT9 Gene

Post-translational modifications for KRT9 Gene

  • Glycosylation at Asn200 and Asn266
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for KRT9 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRT9 Gene

Domains & Families for KRT9 Gene

Gene Families for KRT9 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for KRT9 Gene

InterPro:
Blocks:
  • Intermediate filament protein
  • Type I keratin signature

Suggested Antigen Peptide Sequences for KRT9 Gene

GenScript: Design optimal peptide antigens:
  • Keratin-9 (K1C9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P35527

UniProtKB/Swiss-Prot:

K1C9_HUMAN :
  • Belongs to the intermediate filament family.
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with KRT9: view

Function for KRT9 Gene

Molecular function for KRT9 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction:
Induced by intrinsic regulatory mechanisms and by extrinsic signals from a subset of dermal palmoplantar fibroblasts.
GENATLAS Biochemistry:
keratin 9,type I,palm and sole skin,dimerizing either with KRT1 or KRT10

Phenotypes From GWAS Catalog for KRT9 Gene

Gene Ontology (GO) - Molecular Function for KRT9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
GO:0005200 structural constituent of cytoskeleton TAS 8647270
genes like me logo Genes that share ontologies with KRT9: view
genes like me logo Genes that share phenotypes with KRT9: view

Human Phenotype Ontology for KRT9 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRT9

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KRT9 Gene

Localization for KRT9 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KRT9 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 4
cytoskeleton 4
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for KRT9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space HDA 22664934
GO:0005634 nucleus HDA 21630459
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament IEA --
GO:0016020 membrane HDA 19946888
genes like me logo Genes that share ontologies with KRT9: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRT9 Gene

Pathways & Interactions for KRT9 Gene

genes like me logo Genes that share pathways with KRT9: view

Pathways by source for KRT9 Gene

2 Reactome pathways for KRT9 Gene

Gene Ontology (GO) - Biological Process for KRT9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007283 spermatogenesis IEA --
GO:0008544 epidermis development TAS 8647270
GO:0031424 keratinization TAS --
GO:0043588 skin development IDA 7507869
GO:0045109 intermediate filament organization IMP 10218578
genes like me logo Genes that share ontologies with KRT9: view

No data available for SIGNOR curated interactions for KRT9 Gene

Drugs & Compounds for KRT9 Gene

(9) Drugs for KRT9 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 276
Zinc Approved, Investigational Pharma Target 1706
zinc acetate Approved, Investigational Pharma Target 0
Zinc chloride Approved, Investigational Pharma Target, ligand 0
Zinc sulfate, unspecified form Approved, Experimental Pharma Target, ligand 0

(1) Additional Compounds for KRT9 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with KRT9: view

Transcripts for KRT9 Gene

mRNA/cDNA for KRT9 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRT9

Alternative Splicing Database (ASD) splice patterns (SP) for KRT9 Gene

No ASD Table

Relevant External Links for KRT9 Gene

GeneLoc Exon Structure for
KRT9

Expression for KRT9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KRT9 Gene

mRNA differential expression in normal tissues according to GTEx for KRT9 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x17.0), Skin - Not Sun Exposed (Suprapubic) (x12.6), and Esophagus - Mucosa (x5.8).

Protein differential expression in normal tissues from HIPED for KRT9 Gene

This gene is overexpressed in Cerebrospinal fluid (15.0), Pancreatic juice (8.4), Bone marrow mesenchymal stem cell (6.6), and Brain (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KRT9 Gene



Protein tissue co-expression partners for KRT9 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KRT9

SOURCE GeneReport for Unigene cluster for KRT9 Gene:

Hs.654569

mRNA Expression by UniProt/SwissProt for KRT9 Gene:

P35527-K1C9_HUMAN
Tissue specificity: Expressed in the terminally differentiated epidermis of palms and soles.

Evidence on tissue expression from TISSUES for KRT9 Gene

  • Blood(4.5)
  • Liver(4.4)
  • Intestine(2.3)
  • Heart(2.2)
  • Kidney(2.2)
  • Eye(2.2)
  • Lung(2.1)
  • Nervous system(2.1)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KRT9 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • immune
  • integumentary
Regions:
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • skin
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with KRT9: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for KRT9 Gene

Orthologs for KRT9 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KRT9 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KRT9 29 30
  • 99.57 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia KRT9 30
  • 69 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia KRT9 30
  • 69 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia KRT9 30
  • 61 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia KRT9 30
  • 59 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Krt9 30
  • 58 (a)
OneToOne
Chicken
(Gallus gallus)
Aves KRT9 30
  • 37 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 46 (a)
OneToMany
-- 30
  • 43 (a)
OneToMany
-- 30
  • 42 (a)
OneToMany
Species where no ortholog for KRT9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for KRT9 Gene

ENSEMBL:
Gene Tree for KRT9 (if available)
TreeFam:
Gene Tree for KRT9 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KRT9: view image
Alliance of Genome Resources:
Additional Orthologs for KRT9

Paralogs for KRT9 Gene

(43) SIMAP similar genes for KRT9 Gene using alignment to 2 proteins:

  • K1C9_HUMAN
  • K7EQQ3_HUMAN
genes like me logo Genes that share paralogs with KRT9: view

Variants for KRT9 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KRT9 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
889265 Uncertain Significance: Epidermolytic palmoplantar keratoderma 41,566,100(-) G/A
NM_000226.4(KRT9):c.*93C>T
THREE_PRIME_UTR
889266 Uncertain Significance: Epidermolytic palmoplantar keratoderma 41,566,160(-) G/A
NM_000226.4(KRT9):c.*41-8C>T
INTRON
889267 Uncertain Significance: Epidermolytic palmoplantar keratoderma 41,567,276(-) G/A
NM_000226.4(KRT9):c.1869C>T (p.Ser623=)
SYNONYMOUS
889268 Uncertain Significance: Epidermolytic palmoplantar keratoderma 41,567,348(-) G/A
NM_000226.4(KRT9):c.1797C>T (p.Ser599=)
SYNONYMOUS
889332 Uncertain Significance: Epidermolytic palmoplantar keratoderma 41,568,629(-) G/A
NM_000226.4(KRT9):c.1049C>T (p.Thr350Ile)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KRT9 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for KRT9 Gene

Variant ID Type Subtype PubMed ID
esv2758690 CNV gain+loss 17122850
esv34903 CNV gain 17911159
esv3640588 CNV gain 21293372
esv3640590 CNV gain 21293372
nsv1063389 CNV gain 25217958
nsv1146669 OTHER inversion 26484159
nsv2053 CNV insertion 18451855
nsv510711 CNV deletion 20534489
nsv827992 CNV gain 20364138
nsv9555 CNV gain 18304495

Variation tolerance for KRT9 Gene

Residual Variation Intolerance Score: 47.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.21; 39.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRT9 Gene

Human Gene Mutation Database (HGMD)
KRT9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRT9
Leiden Open Variation Database (LOVD)
KRT9

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRT9 Gene

Disorders for KRT9 Gene

MalaCards: The human disease database

(16) MalaCards diseases for KRT9 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
palmoplantar keratoderma, epidermolytic
  • eppk
knuckle pads
palmoplantar keratosis
  • keratosis palmaris et plantaris
palmoplantar keratoderma, nonepidermolytic
  • neppk
keratosis
  • actinic keratosis
- elite association - COSMIC cancer census association via MalaCards
Search KRT9 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

K1C9_HUMAN
  • Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200]: A dermatological disorder characterized by diffuse thickening of the epidermis on the entire surface of palms and soles sharply bordered with erythematous margins. Some patients may present knuckle pads, thick pads of skin appearing over the proximal phalangeal joints. {ECO:0000269 PubMed:10632938, ECO:0000269 PubMed:10844507, ECO:0000269 PubMed:12072061, ECO:0000269 PubMed:12192490, ECO:0000269 PubMed:12838553, ECO:0000269 PubMed:12926810, ECO:0000269 PubMed:14675368, ECO:0000269 PubMed:15099359, ECO:0000269 PubMed:15115518, ECO:0000269 PubMed:15605275, ECO:0000269 PubMed:16911293, ECO:0000269 PubMed:16961539, ECO:0000269 PubMed:19874353, ECO:0000269 PubMed:20964665, ECO:0000269 PubMed:21715251, ECO:0000269 PubMed:7511021, ECO:0000269 PubMed:7512862, ECO:0000269 PubMed:7516304, ECO:0000269 PubMed:7523529, ECO:0000269 PubMed:7532199, ECO:0000269 PubMed:8647270, ECO:0000269 PubMed:9204965, ECO:0000269 PubMed:9856842}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for KRT9

genes like me logo Genes that share disorders with KRT9: view

No data available for Genatlas for KRT9 Gene

Publications for KRT9 Gene

  1. Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK). (PMID: 7512862) Reis A … Sperling K (Nature genetics 1994) 2 3 4 22
  2. Keratin 9 gene mutations in five Korean families with epidermolytic palmoplantar keratoderma. (PMID: 14675368) Lee JH … Yang JM (Experimental dermatology 2003) 3 4 22
  3. A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads. (PMID: 12838553) Lu Y … Gong Y (American journal of medical genetics. Part A 2003) 4 22 72
  4. Epidermolytic palmoplantar keratoderma of Vörner: re-evaluation of Vörner's original family and identification of a novel keratin 9 mutation. (PMID: 12192490) Küster W … Hennies HC (Archives of dermatological research 2002) 4 22 72
  5. Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland. (PMID: 9856842) Covello SP … McLean WH (The Journal of investigative dermatology 1998) 3 4 22

Products for KRT9 Gene

Sources for KRT9 Gene