UniProtKB - Q04695 (K1C17_HUMAN)
Protein
Keratin, type I cytoskeletal 17
Gene
KRT17
Organism
Homo sapiens (Human)
Status
Functioni
Type I keratin involved in the formation and maintenance of various skin appendages, specifically in determining shape and orientation of hair (By similarity). Required for the correct growth of hair follicles, in particular for the persistence of the anagen (growth) state (By similarity). Modulates the function of TNF-alpha in the specific context of hair cycling. Regulates protein synthesis and epithelial cell growth through binding to the adapter protein SFN and by stimulating Akt/mTOR pathway (By similarity). Involved in tissue repair. May be a marker of basal cell differentiation in complex epithelia and therefore indicative of a certain type of epithelial 'stem cells'. Acts as a promoter of epithelial proliferation by acting a regulator of immune response in skin: promotes Th1/Th17-dominated immune environment contributing to the development of basaloid skin tumors (By similarity). May act as an autoantigen in the immunopathogenesis of psoriasis, with certain peptide regions being a major target for autoreactive T-cells and hence causing their proliferation.By similarity3 Publications
Miscellaneous
There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa).
GO - Molecular functioni
- structural molecule activity Source: InterPro
GO - Biological processi
- cornification Source: Reactome
- hair follicle morphogenesis Source: UniProtKB
- intermediate filament organization Source: Ensembl
- keratinization Source: Reactome
- positive regulation of cell growth Source: Ensembl
- positive regulation of hair follicle development Source: Ensembl
- positive regulation of translation Source: Ensembl
Enzyme and pathway databases
PathwayCommonsi | Q04695 |
Reactomei | R-HSA-6805567, Keratinization R-HSA-6809371, Formation of the cornified envelope |
SIGNORi | Q04695 |
Names & Taxonomyi
Protein namesi | Recommended name: Keratin, type I cytoskeletal 17Alternative name(s): 39.1 Cytokeratin-17 Short name: CK-17 Keratin-17 Short name: K17 |
Gene namesi | Name:KRT17 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:6427, KRT17 |
MIMi | 148069, gene |
neXtProti | NX_Q04695 |
VEuPathDBi | HostDB:ENSG00000128422.15 |
Subcellular locationi
Cytoplasm and Cytosol
- Cytoplasm By similarity
Cytoskeleton
- intermediate filament Source: UniProtKB-KW
- intermediate filament cytoskeleton Source: HPA
Cytosol
- cytosol Source: Reactome
Other locations
- cell periphery Source: Ensembl
Keywords - Cellular componenti
Cytoplasm, Intermediate filament, KeratinPathology & Biotechi
Involvement in diseasei
Pachyonychia congenita 2 (PC2)18 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy resulting in onchyogryposis (thickening and increase in curvature of the nail), palmoplantar keratoderma and hyperhidrosis, follicular hyperkeratosis, multiple epidermal cysts, absent/sparse eyebrow and body hair, and by the presence of natal teeth.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_072441 | 88 | M → K in PC2. 1 PublicationCorresponds to variant dbSNP:rs28928898EnsemblClinVar. | 1 | |
Natural variantiVAR_010512 | 88 | M → T in PC2 and SM. 2 PublicationsCorresponds to variant dbSNP:rs28928898EnsemblClinVar. | 1 | |
Natural variantiVAR_072442 | 91 | L → P in PC2. 1 Publication | 1 | |
Natural variantiVAR_072443 | 92 – 99 | Missing in PC2. 1 Publication | 8 | |
Natural variantiVAR_003847 | 92 | N → D in PC2. 1 PublicationCorresponds to variant dbSNP:rs28928896EnsemblClinVar. | 1 | |
Natural variantiVAR_003849 | 92 | N → S in PC2. 6 PublicationsCorresponds to variant dbSNP:rs59151893EnsemblClinVar. | 1 | |
Natural variantiVAR_017069 | 94 – 98 | Missing in PC2. | 5 | |
Natural variantiVAR_010513 | 94 | R → C in PC2 and SM. 1 PublicationCorresponds to variant dbSNP:rs58730926EnsemblClinVar. | 1 | |
Natural variantiVAR_003850 | 94 | R → H in SM AND PC2. 2 PublicationsCorresponds to variant dbSNP:rs28928897EnsemblClinVar. | 1 | |
Natural variantiVAR_017068 | 94 | R → P in PC2. 1 PublicationCorresponds to variant dbSNP:rs28928897EnsemblClinVar. | 1 | |
Natural variantiVAR_017071 | 95 | L → P in PC2. 1 PublicationCorresponds to variant dbSNP:rs28928899EnsemblClinVar. | 1 | |
Natural variantiVAR_017070 | 95 | L → Q in PC2. 1 PublicationCorresponds to variant dbSNP:rs28928899EnsemblClinVar. | 1 | |
Natural variantiVAR_017072 | 97 | Missing in PC2. 1 Publication | 1 | |
Natural variantiVAR_003851 | 98 | Y → D in PC2. 1 PublicationCorresponds to variant dbSNP:rs28933088EnsemblClinVar. | 1 | |
Natural variantiVAR_017073 | 99 | L → P in PC2. 1 PublicationCorresponds to variant dbSNP:rs28933089EnsemblClinVar. | 1 | |
Natural variantiVAR_017074 | 102 | V → M in PC2. 2 PublicationsCorresponds to variant dbSNP:rs59977263EnsemblClinVar. | 1 | |
Natural variantiVAR_037083 | 109 | N → D in PC2. 2 PublicationsCorresponds to variant dbSNP:rs267607412EnsemblClinVar. | 1 | |
Natural variantiVAR_072444 | 388 | L → P in PC2. 1 PublicationCorresponds to variant dbSNP:rs56690581EnsemblClinVar. | 1 | |
Natural variantiVAR_072445 | 388 | L → R in PC2. 1 Publication | 1 |
Steatocystoma multiplex (SM)3 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionDisease characterized by round or oval cystic tumors widely distributed on the back, anterior trunk, arms, scrotum, and thighs.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_010512 | 88 | M → T in PC2 and SM. 2 PublicationsCorresponds to variant dbSNP:rs28928898EnsemblClinVar. | 1 | |
Natural variantiVAR_003848 | 92 | N → H in SM. 1 PublicationCorresponds to variant dbSNP:rs28928896EnsemblClinVar. | 1 | |
Natural variantiVAR_010513 | 94 | R → C in PC2 and SM. 1 PublicationCorresponds to variant dbSNP:rs58730926EnsemblClinVar. | 1 | |
Natural variantiVAR_003850 | 94 | R → H in SM AND PC2. 2 PublicationsCorresponds to variant dbSNP:rs28928897EnsemblClinVar. | 1 |
KRT16 and KRT17 are coexpressed only in pathological situations such as metaplasias and carcinomas of the uterine cervix and in psoriasis vulgaris.
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 103 | R → A: Down-regulates both proliferation of psoriatic T-cells and IFN-gamma production; suppresses keratinocyte growth when part of the altered peptide epitope S1. 1 Publication | 1 | |
Mutagenesisi | 106 | E → A: Down-regulates proliferation of psoriatic T-cells and IFN-gamma production when part of the altered peptide epitope S1. 1 Publication | 1 | |
Mutagenesisi | 109 | N → A: No significant effect on T-cell proliferation or IFN-gamma production when part of the altered peptide epitope S1. 1 Publication | 1 | |
Mutagenesisi | 154 | N → A: No significant effect on T-cell proliferation but reduces IFN-gamma production when part of the altered peptide epitope S2. 1 Publication | 1 | |
Mutagenesisi | 155 | I → A: No significant effect on T-cell proliferation but reduces IFN-gamma production when part of the altered peptide epitope S2. 1 Publication | 1 | |
Mutagenesisi | 157 | L → A: Down-regulates proliferation of psoriatic T-cells and IFN-gamma production when part of the altered peptide epitope S2. 1 Publication | 1 | |
Mutagenesisi | 160 | D → A: No significant effect on T-cell proliferation but reduces IFN-gamma production when part of the altered peptide epitope S4. 1 Publication | 1 | |
Mutagenesisi | 333 | N → A: No significant effect on T-cell proliferation but reduces IFN-gamma production when part of the altered peptide epitope S4. 1 Publication | 1 | |
Mutagenesisi | 334 | R → A: No significant effect on T-cell proliferation but can induce IFN-gamma production when part of the altered peptide epitope S2. 1 Publication | 1 | |
Mutagenesisi | 336 | C → A: No significant effect on T-cell proliferation but reduces IFN-gamma production when part of the altered peptide epitope S2. 1 Publication | 1 | |
Mutagenesisi | 339 | L → A: Down-regulates both proliferation of psoriatic T-cells and IFN-gamma production; suppresses keratinocyte growth when part of the altered peptide epitope S4. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, Ectodermal dysplasia, Palmoplantar keratodermaOrganism-specific databases
DisGeNETi | 3872 |
GeneReviewsi | KRT17 |
MalaCardsi | KRT17 |
MIMi | 167210, phenotype 184500, phenotype |
OpenTargetsi | ENSG00000128422 |
Orphaneti | 2309, Pachyonychia congenita 841, Sebocystomatosis |
PharmGKBi | PA30214 |
Miscellaneous databases
Pharosi | Q04695, Tbio |
Genetic variation databases
BioMutai | KRT17 |
DMDMi | 547751 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000063664 | 1 – 432 | Keratin, type I cytoskeletal 17Add BLAST | 432 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 12 | PhosphoserineCombined sources | 1 | |
Modified residuei | 13 | PhosphoserineCombined sources | 1 | |
Cross-linki | 15 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources | ||
Cross-linki | 15 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources | ||
Modified residuei | 25 | PhosphoserineBy similarity | 1 | |
Modified residuei | 32 | PhosphoserineCombined sources | 1 | |
Modified residuei | 39 | PhosphoserineCombined sources | 1 | |
Modified residuei | 44 | Phosphoserine; by RPS6KA11 Publication | 1 | |
Modified residuei | 110 | PhosphothreonineCombined sources | 1 | |
Cross-linki | 278 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 279 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 323 | PhosphoserineCombined sources | 1 | |
Cross-linki | 399 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources | ||
Cross-linki | 399 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources | ||
Cross-linki | 400 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources | ||
Cross-linki | 400 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources | ||
Cross-linki | 419 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources | ||
Cross-linki | 419 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources |
Post-translational modificationi
Phosphorylation at Ser-44 occurs in a growth- and stress-dependent fashion in skin keratinocytes, it has no effect on filament organization.1 Publication
Keywords - PTMi
Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
CPTACi | CPTAC-1516 CPTAC-1517 |
EPDi | Q04695 |
jPOSTi | Q04695 |
MassIVEi | Q04695 |
PaxDbi | Q04695 |
PeptideAtlasi | Q04695 |
PRIDEi | Q04695 |
ProteomicsDBi | 58264 |
TopDownProteomicsi | Q04695 |
2D gel databases
SWISS-2DPAGEi | Q04695 |
PTM databases
iPTMneti | Q04695 |
MetOSitei | Q04695 |
PhosphoSitePlusi | Q04695 |
SwissPalmi | Q04695 |
Expressioni
Tissue specificityi
Expressed in the outer root sheath and medulla region of hair follicle specifically from eyebrow and beard, digital pulp, nail matrix and nail bed epithelium, mucosal stratified squamous epithelia and in basal cells of oral epithelium, palmoplantar epidermis and sweat and mammary glands. Also expressed in myoepithelium of prostate, basal layer of urinary bladder, cambial cells of sebaceous gland and in exocervix (at protein level).4 Publications
Inductioni
Induced in damaged or stressed epidermis. Induced by the cytokines interferon-gamma (IFN-gamma), tumor necrosis factor alpha (TNF-alpha) and transforming growth factor-alpha (TGF-alpha), and by the potent NF-kappa B inhibitor compounds Bay 11-7082 and Bay 11-7085. Down-regulated by the drug Imatinib.4 Publications
Gene expression databases
Bgeei | ENSG00000128422, Expressed in amniotic fluid and 194 other tissues |
ExpressionAtlasi | Q04695, baseline and differential |
Genevisiblei | Q04695, HS |
Organism-specific databases
HPAi | ENSG00000128422, Tissue enhanced (skin, tongue) |
Interactioni
Subunit structurei
Heterodimer of a type I and a type II keratin. KRT17 associates with KRT6 isomers (KRT6A or KRT6B).
Interacts with TRADD and SFN (By similarity).
By similarityBinary interactionsi
Hide detailsProtein-protein interaction databases
BioGRIDi | 110070, 196 interactors |
DIPi | DIP-33093N |
IntActi | Q04695, 27 interactors |
MINTi | Q04695 |
STRINGi | 9606.ENSP00000308452 |
Miscellaneous databases
RNActi | Q04695, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 84 – 395 | IF rodPROSITE-ProRule annotationAdd BLAST | 312 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 83 | HeadAdd BLAST | 83 | |
Regioni | 84 – 120 | Coil 1AAdd BLAST | 37 | |
Regioni | 102 – 116 | Peptide epitope S1; induces T-cell and keratinocyte proliferation and IFN-gamma productionAdd BLAST | 15 | |
Regioni | 121 – 138 | Linker 1Add BLAST | 18 | |
Regioni | 139 – 230 | Coil 1BAdd BLAST | 92 | |
Regioni | 153 – 167 | Peptide epitope S2; induces T-cell proliferation and IFN-gamma productionAdd BLAST | 15 | |
Regioni | 231 – 250 | Linker 12Add BLAST | 20 | |
Regioni | 251 – 392 | Coil 2Add BLAST | 142 | |
Regioni | 332 – 346 | Peptide epitope S4; induces T-cell and keratinocyte proliferation and IFN-gamma productionAdd BLAST | 15 | |
Regioni | 393 – 432 | TailAdd BLAST | 40 |
Sequence similaritiesi
Belongs to the intermediate filament family.PROSITE-ProRule annotation
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | ENOG502QTM6, Eukaryota |
GeneTreei | ENSGT00940000160681 |
HOGENOMi | CLU_012560_8_1_1 |
InParanoidi | Q04695 |
OMAi | YYHTIED |
OrthoDBi | 798081at2759 |
PhylomeDBi | Q04695 |
TreeFami | TF332742 |
Family and domain databases
Gene3Di | 1.20.5.1160, 1 hit |
InterProi | View protein in InterPro IPR018039, IF_conserved IPR039008, IF_rod_dom IPR042180, IF_rod_dom_coil1B IPR002957, Keratin_I |
PANTHERi | PTHR23239, PTHR23239, 1 hit |
Pfami | View protein in Pfam PF00038, Filament, 1 hit |
PRINTSi | PR01248, TYPE1KERATIN |
SMARTi | View protein in SMART SM01391, Filament, 1 hit |
PROSITEi | View protein in PROSITE PS00226, IF_ROD_1, 1 hit PS51842, IF_ROD_2, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All
Q04695-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MTTSIRQFTS SSSIKGSSGL GGGSSRTSCR LSGGLGAGSC RLGSAGGLGS
60 70 80 90 100
TLGGSSYSSC YSFGSGGGYG SSFGGVDGLL AGGEKATMQN LNDRLASYLD
110 120 130 140 150
KVRALEEANT ELEVKIRDWY QRQAPGPARD YSQYYRTIEE LQNKILTATV
160 170 180 190 200
DNANILLQID NARLAADDFR TKFETEQALR LSVEADINGL RRVLDELTLA
210 220 230 240 250
RADLEMQIEN LKEELAYLKK NHEEEMNALR GQVGGEINVE MDAAPGVDLS
260 270 280 290 300
RILNEMRDQY EKMAEKNRKD AEDWFFSKTE ELNREVATNS ELVQSGKSEI
310 320 330 340 350
SELRRTMQAL EIELQSQLSM KASLEGNLAE TENRYCVQLS QIQGLIGSVE
360 370 380 390 400
EQLAQLRCEM EQQNQEYKIL LDVKTRLEQE IATYRRLLEG EDAHLTQYKK
410 420 430
EPVTTRQVRT IVEEVQDGKV ISSREQVHQT TR
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF5GWP8 | F5GWP8_HUMAN | Keratin, type I cytoskeletal 17 | KRT17 | 349 | Annotation score: | ||
K7EPJ9 | K7EPJ9_HUMAN | Keratin, type I cytoskeletal 17 | KRT17 | 231 | Annotation score: | ||
A0A3B3IS58 | A0A3B3IS58_HUMAN | Keratin, type I cytoskeletal 17 | KRT17 | 98 | Annotation score: | ||
K7ESE1 | K7ESE1_HUMAN | Keratin, type I cytoskeletal 17 | KRT17 | 95 | Annotation score: |
Sequence cautioni
The sequence AAH72018 differs from that shown. Reason: Frameshift.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 30 | R → Q in AL353997 (PubMed:16625196).Curated | 1 | |
Sequence conflicti | 30 | R → Q in AC022596 (PubMed:16625196).Curated | 1 | |
Sequence conflicti | 42 | L → P in AL353997 (PubMed:16625196).Curated | 1 | |
Sequence conflicti | 42 | L → P in AC022596 (PubMed:16625196).Curated | 1 | |
Sequence conflicti | 51 – 56 | Missing in BAC04534 (PubMed:14702039).Curated | 6 | |
Sequence conflicti | 51 | T → A in AL353997 (PubMed:16625196).Curated | 1 | |
Sequence conflicti | 51 | T → A in AC022596 (PubMed:16625196).Curated | 1 | |
Sequence conflicti | 72 | S → SS in AL353997 (PubMed:16625196).Curated | 1 | |
Sequence conflicti | 73 – 74 | FG → SFE in AC022596 (PubMed:16625196).Curated | 2 | |
Sequence conflicti | 74 | G → E in AL353997 (PubMed:16625196).Curated | 1 | |
Sequence conflicti | 81 | A → V in AL353997 (PubMed:16625196).Curated | 1 | |
Sequence conflicti | 81 | A → V in AC022596 (PubMed:16625196).Curated | 1 | |
Sequence conflicti | 94 – 108 | Missing in AAH72018 (PubMed:15489334).CuratedAdd BLAST | 15 | |
Sequence conflicti | 137 | T → I in AL353997 (PubMed:16625196).Curated | 1 | |
Sequence conflicti | 137 | T → I in AC022596 (PubMed:16625196).Curated | 1 | |
Sequence conflicti | 145 – 147 | ILT → VGPA in AL353997 (PubMed:16625196).Curated | 3 | |
Sequence conflicti | 158 | Q → H in AC022596 (PubMed:16625196).Curated | 1 | |
Sequence conflicti | 159 | I → N in AL353997 (PubMed:16625196).Curated | 1 | |
Sequence conflicti | 163 | R → H in AL353997 (PubMed:16625196).Curated | 1 | |
Sequence conflicti | 163 | R → H in AC022596 (PubMed:16625196).Curated | 1 | |
Sequence conflicti | 167 | D → A in AL353997 (PubMed:16625196).Curated | 1 | |
Sequence conflicti | 167 | D → A in AC022596 (PubMed:16625196).Curated | 1 | |
Sequence conflicti | 180 | R → C in AL353997 (PubMed:16625196).Curated | 1 | |
Sequence conflicti | 180 | R → C in AC022596 (PubMed:16625196).Curated | 1 | |
Sequence conflicti | 190 – 191 | LR → PC in AL353997 (PubMed:16625196).Curated | 2 | |
Sequence conflicti | 190 – 191 | LR → PC in AC022596 (PubMed:16625196).Curated | 2 | |
Sequence conflicti | 204 | L → P in AL353997 (PubMed:16625196).Curated | 1 | |
Sequence conflicti | 207 | Q → H in AL353997 (PubMed:16625196).Curated | 1 | |
Sequence conflicti | 207 | Q → H in AC022596 (PubMed:16625196).Curated | 1 | |
Sequence conflicti | 225 | Missing in AL353997 (PubMed:16625196).Curated | 1 | |
Sequence conflicti | 225 | Missing in AC022596 (PubMed:16625196).Curated | 1 | |
Sequence conflicti | 229 | L → P in AL353997 (PubMed:16625196).Curated | 1 | |
Sequence conflicti | 229 | L → P in AC022596 (PubMed:16625196).Curated | 1 | |
Sequence conflicti | 242 | D → G in AL353997 (PubMed:16625196).Curated | 1 | |
Sequence conflicti | 242 | D → G in AC022596 (PubMed:16625196).Curated | 1 | |
Sequence conflicti | 258 | D → E in AL353997 (PubMed:16625196).Curated | 1 | |
Sequence conflicti | 258 | D → E in AC022596 (PubMed:16625196).Curated | 1 | |
Sequence conflicti | 305 | R → C in AL353997 (PubMed:16625196).Curated | 1 | |
Sequence conflicti | 305 | R → C in AC022596 (PubMed:16625196).Curated | 1 | |
Sequence conflicti | 337 | V → M in AL353997 (PubMed:16625196).Curated | 1 | |
Sequence conflicti | 337 | V → M in AC022596 (PubMed:16625196).Curated | 1 | |
Sequence conflicti | 352 | Q → R in AL353997 (PubMed:16625196).Curated | 1 | |
Sequence conflicti | 352 | Q → R in AC022596 (PubMed:16625196).Curated | 1 | |
Sequence conflicti | 357 | R → L in AL353997 (PubMed:16625196).Curated | 1 | |
Sequence conflicti | 357 | R → L in AC022596 (PubMed:16625196).Curated | 1 | |
Sequence conflicti | 373 – 375 | VKT → MKM in AL353997 (PubMed:16625196).Curated | 3 | |
Sequence conflicti | 373 – 375 | VKT → MKM in AC022596 (PubMed:16625196).Curated | 3 | |
Sequence conflicti | 379 | Q → L in AL353997 (PubMed:16625196).Curated | 1 | |
Sequence conflicti | 379 | Q → L in AC022596 (PubMed:16625196).Curated | 1 | |
Sequence conflicti | 382 | A → T in AL353997 (PubMed:16625196).Curated | 1 | |
Sequence conflicti | 382 | A → T in AC022596 (PubMed:16625196).Curated | 1 | |
Sequence conflicti | 385 | R → H in AL353997 (PubMed:16625196).Curated | 1 | |
Sequence conflicti | 385 | R → H in AC022596 (PubMed:16625196).Curated | 1 | |
Sequence conflicti | 395 – 404 | LTQYKKEPVT → FRMSESSPVS in AC022596 (PubMed:16625196).Curated | 10 | |
Sequence conflicti | 406 | R → C in AL353997 (PubMed:16625196).Curated | 1 | |
Sequence conflicti | 409 | R → P in AL353997 (PubMed:16625196).Curated | 1 | |
Sequence conflicti | 428 | H → R in AL353997 (PubMed:16625196).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_072441 | 88 | M → K in PC2. 1 PublicationCorresponds to variant dbSNP:rs28928898EnsemblClinVar. | 1 | |
Natural variantiVAR_010512 | 88 | M → T in PC2 and SM. 2 PublicationsCorresponds to variant dbSNP:rs28928898EnsemblClinVar. | 1 | |
Natural variantiVAR_072442 | 91 | L → P in PC2. 1 Publication | 1 | |
Natural variantiVAR_072443 | 92 – 99 | Missing in PC2. 1 Publication | 8 | |
Natural variantiVAR_003847 | 92 | N → D in PC2. 1 PublicationCorresponds to variant dbSNP:rs28928896EnsemblClinVar. | 1 | |
Natural variantiVAR_003848 | 92 | N → H in SM. 1 PublicationCorresponds to variant dbSNP:rs28928896EnsemblClinVar. | 1 | |
Natural variantiVAR_003849 | 92 | N → S in PC2. 6 PublicationsCorresponds to variant dbSNP:rs59151893EnsemblClinVar. | 1 | |
Natural variantiVAR_017069 | 94 – 98 | Missing in PC2. | 5 | |
Natural variantiVAR_010513 | 94 | R → C in PC2 and SM. 1 PublicationCorresponds to variant dbSNP:rs58730926EnsemblClinVar. | 1 | |
Natural variantiVAR_003850 | 94 | R → H in SM AND PC2. 2 PublicationsCorresponds to variant dbSNP:rs28928897EnsemblClinVar. | 1 | |
Natural variantiVAR_017068 | 94 | R → P in PC2. 1 PublicationCorresponds to variant dbSNP:rs28928897EnsemblClinVar. | 1 | |
Natural variantiVAR_017071 | 95 | L → P in PC2. 1 PublicationCorresponds to variant dbSNP:rs28928899EnsemblClinVar. | 1 | |
Natural variantiVAR_017070 | 95 | L → Q in PC2. 1 PublicationCorresponds to variant dbSNP:rs28928899EnsemblClinVar. | 1 | |
Natural variantiVAR_017072 | 97 | Missing in PC2. 1 Publication | 1 | |
Natural variantiVAR_003851 | 98 | Y → D in PC2. 1 PublicationCorresponds to variant dbSNP:rs28933088EnsemblClinVar. | 1 | |
Natural variantiVAR_017073 | 99 | L → P in PC2. 1 PublicationCorresponds to variant dbSNP:rs28933089EnsemblClinVar. | 1 | |
Natural variantiVAR_017074 | 102 | V → M in PC2. 2 PublicationsCorresponds to variant dbSNP:rs59977263EnsemblClinVar. | 1 | |
Natural variantiVAR_037083 | 109 | N → D in PC2. 2 PublicationsCorresponds to variant dbSNP:rs267607412EnsemblClinVar. | 1 | |
Natural variantiVAR_072444 | 388 | L → P in PC2. 1 PublicationCorresponds to variant dbSNP:rs56690581EnsemblClinVar. | 1 | |
Natural variantiVAR_072445 | 388 | L → R in PC2. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | Z19574 Genomic DNA Translation: CAA79626.1 X62571 mRNA Translation: CAA44451.1 AK095342 mRNA Translation: BAC04534.1 AC022596 Genomic DNA No translation available. AL353997 Genomic DNA No translation available. BC000159 mRNA Translation: AAH00159.2 BC011901 mRNA Translation: AAH11901.1 BC056421 mRNA Translation: AAH56421.1 BC072018 mRNA Translation: AAH72018.1 Frameshift. BC072019 mRNA Translation: AAH72019.1 S78515 Genomic DNA Translation: AAB34565.1 EF608068 mRNA Translation: ABQ96595.1 EF608069 mRNA Translation: ABQ96596.1 EF608070 mRNA Translation: ABQ96597.1 EF608071 mRNA Translation: ABQ96598.1 |
CCDSi | CCDS11402.1 |
PIRi | S30433 |
RefSeqi | NP_000413.1, NM_000422.2 |
Genome annotation databases
Ensembli | ENST00000311208; ENSP00000308452; ENSG00000128422 |
GeneIDi | 3872 |
KEGGi | hsa:3872 |
UCSCi | uc002hxh.3, human |
Similar proteinsi
Cross-referencesi
Web resourcesi
Human Intermediate Filament Mutation Database |
Wikipedia Keratin-17 entry |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | Z19574 Genomic DNA Translation: CAA79626.1 X62571 mRNA Translation: CAA44451.1 AK095342 mRNA Translation: BAC04534.1 AC022596 Genomic DNA No translation available. AL353997 Genomic DNA No translation available. BC000159 mRNA Translation: AAH00159.2 BC011901 mRNA Translation: AAH11901.1 BC056421 mRNA Translation: AAH56421.1 BC072018 mRNA Translation: AAH72018.1 Frameshift. BC072019 mRNA Translation: AAH72019.1 S78515 Genomic DNA Translation: AAB34565.1 EF608068 mRNA Translation: ABQ96595.1 EF608069 mRNA Translation: ABQ96596.1 EF608070 mRNA Translation: ABQ96597.1 EF608071 mRNA Translation: ABQ96598.1 |
CCDSi | CCDS11402.1 |
PIRi | S30433 |
RefSeqi | NP_000413.1, NM_000422.2 |
3D structure databases
SMRi | Q04695 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 110070, 196 interactors |
DIPi | DIP-33093N |
IntActi | Q04695, 27 interactors |
MINTi | Q04695 |
STRINGi | 9606.ENSP00000308452 |
PTM databases
iPTMneti | Q04695 |
MetOSitei | Q04695 |
PhosphoSitePlusi | Q04695 |
SwissPalmi | Q04695 |
Genetic variation databases
BioMutai | KRT17 |
DMDMi | 547751 |
2D gel databases
SWISS-2DPAGEi | Q04695 |
Proteomic databases
CPTACi | CPTAC-1516 CPTAC-1517 |
EPDi | Q04695 |
jPOSTi | Q04695 |
MassIVEi | Q04695 |
PaxDbi | Q04695 |
PeptideAtlasi | Q04695 |
PRIDEi | Q04695 |
ProteomicsDBi | 58264 |
TopDownProteomicsi | Q04695 |
Protocols and materials databases
ABCDi | Q04695, 1 sequenced antibody |
Antibodypediai | 6491, 1192 antibodies |
DNASUi | 3872 |
Genome annotation databases
Ensembli | ENST00000311208; ENSP00000308452; ENSG00000128422 |
GeneIDi | 3872 |
KEGGi | hsa:3872 |
UCSCi | uc002hxh.3, human |
Organism-specific databases
CTDi | 3872 |
DisGeNETi | 3872 |
GeneCardsi | KRT17 |
GeneReviewsi | KRT17 |
HGNCi | HGNC:6427, KRT17 |
HPAi | ENSG00000128422, Tissue enhanced (skin, tongue) |
MalaCardsi | KRT17 |
MIMi | 148069, gene 167210, phenotype 184500, phenotype |
neXtProti | NX_Q04695 |
OpenTargetsi | ENSG00000128422 |
Orphaneti | 2309, Pachyonychia congenita 841, Sebocystomatosis |
PharmGKBi | PA30214 |
VEuPathDBi | HostDB:ENSG00000128422.15 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QTM6, Eukaryota |
GeneTreei | ENSGT00940000160681 |
HOGENOMi | CLU_012560_8_1_1 |
InParanoidi | Q04695 |
OMAi | YYHTIED |
OrthoDBi | 798081at2759 |
PhylomeDBi | Q04695 |
TreeFami | TF332742 |
Enzyme and pathway databases
PathwayCommonsi | Q04695 |
Reactomei | R-HSA-6805567, Keratinization R-HSA-6809371, Formation of the cornified envelope |
SIGNORi | Q04695 |
Miscellaneous databases
BioGRID-ORCSi | 3872, 75 hits in 948 CRISPR screens |
ChiTaRSi | KRT17, human |
GeneWikii | Keratin_17 |
GenomeRNAii | 3872 |
Pharosi | Q04695, Tbio |
PROi | PR:Q04695 |
RNActi | Q04695, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000128422, Expressed in amniotic fluid and 194 other tissues |
ExpressionAtlasi | Q04695, baseline and differential |
Genevisiblei | Q04695, HS |
Family and domain databases
Gene3Di | 1.20.5.1160, 1 hit |
InterProi | View protein in InterPro IPR018039, IF_conserved IPR039008, IF_rod_dom IPR042180, IF_rod_dom_coil1B IPR002957, Keratin_I |
PANTHERi | PTHR23239, PTHR23239, 1 hit |
Pfami | View protein in Pfam PF00038, Filament, 1 hit |
PRINTSi | PR01248, TYPE1KERATIN |
SMARTi | View protein in SMART SM01391, Filament, 1 hit |
PROSITEi | View protein in PROSITE PS00226, IF_ROD_1, 1 hit PS51842, IF_ROD_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | K1C17_HUMAN | |
Accessioni | Q04695Primary (citable) accession number: Q04695 Secondary accession number(s): A5Z1M9 Q8N1P6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 1, 1994 |
Last sequence update: | January 23, 2007 | |
Last modified: | April 7, 2021 | |
This is version 204 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families