Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - Q04695 (K1C17_HUMAN)

Protein

Keratin, type I cytoskeletal 17

Gene

KRT17

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

  • MHC class II protein binding Source: UniProtKB
  • MHC class II receptor activity Source: UniProtKB
  • structural constituent of cytoskeleton Source: ProtInc
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Enzyme and pathway databases

ReactomeiR-HSA-6805567 Keratinization
R-HSA-6809371 Formation of the cornified envelope
SIGNORiQ04695

Names & Taxonomyi

Protein namesi
Recommended name:
Keratin, type I cytoskeletal 17
Alternative name(s):
39.1
Cytokeratin-17
Short name:
CK-17
Keratin-17
Short name:
K17
Gene namesi
Name:KRT17
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000128422.15
HGNCiHGNC:6427 KRT17
MIMi148069 gene
neXtProtiNX_Q04695

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Intermediate filament, Keratin

Pathology & Biotechi

Involvement in diseasei

Pachyonychia congenita 2 (PC2)18 Publications
The disease is caused by mutations 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.
See also OMIM:167210
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07244188M → K in PC2. 1 PublicationCorresponds to variant dbSNP:rs28928898EnsemblClinVar.1
Natural variantiVAR_07244291L → P in PC2. 1 Publication1
Natural variantiVAR_07244392 – 99Missing in PC2. 1 Publication8
Natural variantiVAR_00384792N → D in PC2. 1 PublicationCorresponds to variant dbSNP:rs28928896EnsemblClinVar.1
Natural variantiVAR_00384992N → S in PC2. 6 PublicationsCorresponds to variant dbSNP:rs59151893EnsemblClinVar.1
Natural variantiVAR_01706994 – 98Missing in PC2. 5
Natural variantiVAR_00385094R → H in SM AND PC2. 2 PublicationsCorresponds to variant dbSNP:rs28928897EnsemblClinVar.1
Natural variantiVAR_01706894R → P in PC2. 1 PublicationCorresponds to variant dbSNP:rs28928897EnsemblClinVar.1
Natural variantiVAR_01707195L → P in PC2. 1 PublicationCorresponds to variant dbSNP:rs28928899EnsemblClinVar.1
Natural variantiVAR_01707095L → Q in PC2. 1 PublicationCorresponds to variant dbSNP:rs28928899EnsemblClinVar.1
Natural variantiVAR_01707297Missing in PC2. 1 Publication1
Natural variantiVAR_00385198Y → D in PC2. 1 PublicationCorresponds to variant dbSNP:rs28933088EnsemblClinVar.1
Natural variantiVAR_01707399L → P in PC2. 1 PublicationCorresponds to variant dbSNP:rs28933089EnsemblClinVar.1
Natural variantiVAR_017074102V → M in PC2. 2 PublicationsCorresponds to variant dbSNP:rs59977263EnsemblClinVar.1
Natural variantiVAR_037083109N → D in PC2. 2 PublicationsCorresponds to variant dbSNP:rs267607412EnsemblClinVar.1
Natural variantiVAR_072444388L → P in PC2. 1 PublicationCorresponds to variant dbSNP:rs56690581EnsemblClinVar.1
Natural variantiVAR_072445388L → R in PC2. 1 Publication1
Steatocystoma multiplex (SM)3 Publications
The disease is caused by mutations 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.
See also OMIM:184500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00384892N → H in SM. 1 PublicationCorresponds to variant dbSNP:rs28928896EnsemblClinVar.1
Natural variantiVAR_00385094R → 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 keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi103R → 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 Publication1
Mutagenesisi106E → A: Down-regulates proliferation of psoriatic T-cells and IFN-gamma production when part of the altered peptide epitope S1. 1 Publication1
Mutagenesisi109N → A: No significant effect on T-cell proliferation or IFN-gamma production when part of the altered peptide epitope S1. 1 Publication1
Mutagenesisi154N → A: No significant effect on T-cell proliferation but reduces IFN-gamma production when part of the altered peptide epitope S2. 1 Publication1
Mutagenesisi155I → A: No significant effect on T-cell proliferation but reduces IFN-gamma production when part of the altered peptide epitope S2. 1 Publication1
Mutagenesisi157L → A: Down-regulates proliferation of psoriatic T-cells and IFN-gamma production when part of the altered peptide epitope S2. 1 Publication1
Mutagenesisi160D → A: No significant effect on T-cell proliferation but reduces IFN-gamma production when part of the altered peptide epitope S4. 1 Publication1
Mutagenesisi333N → A: No significant effect on T-cell proliferation but reduces IFN-gamma production when part of the altered peptide epitope S4. 1 Publication1
Mutagenesisi334R → A: No significant effect on T-cell proliferation but can induce IFN-gamma production when part of the altered peptide epitope S2. 1 Publication1
Mutagenesisi336C → A: No significant effect on T-cell proliferation but reduces IFN-gamma production when part of the altered peptide epitope S2. 1 Publication1
Mutagenesisi339L → 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 Publication1

Keywords - Diseasei

Disease mutation, Ectodermal dysplasia, Palmoplantar keratoderma

Organism-specific databases

DisGeNETi3872
GeneReviewsiKRT17
MalaCardsiKRT17
MIMi167210 phenotype
184500 phenotype
OpenTargetsiENSG00000128422
Orphaneti2309 Pachyonychia congenita
841 Sebocystomatosis
PharmGKBiPA30214

Polymorphism and mutation databases

BioMutaiKRT17
DMDMi547751

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000636641 – 432Keratin, type I cytoskeletal 17Add BLAST432

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei12PhosphoserineCombined sources1
Modified residuei13PhosphoserineCombined sources1
Cross-linki15Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources
Cross-linki15Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Modified residuei25PhosphoserineBy similarity1
Modified residuei32PhosphoserineCombined sources1
Modified residuei39PhosphoserineCombined sources1
Modified residuei44Phosphoserine; by RPS6KA11 Publication1
Modified residuei110PhosphothreonineCombined sources1
Cross-linki278Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei279PhosphothreonineBy similarity1
Modified residuei323PhosphoserineCombined sources1
Cross-linki399Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources
Cross-linki399Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Cross-linki400Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources
Cross-linki400Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Cross-linki419Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources
Cross-linki419Glycyl 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 conjugation

Proteomic databases

EPDiQ04695
PaxDbiQ04695
PeptideAtlasiQ04695
PRIDEiQ04695
ProteomicsDBi58264
TopDownProteomicsiQ04695

2D gel databases

SWISS-2DPAGEiQ04695

PTM databases

iPTMnetiQ04695
PhosphoSitePlusiQ04695
SwissPalmiQ04695

Miscellaneous databases

PMAP-CutDBiQ04695

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

BgeeiENSG00000128422 Expressed in 179 organ(s), highest expression level in amniotic fluid
ExpressionAtlasiQ04695 baseline and differential
GenevisibleiQ04695 HS

Organism-specific databases

HPAiCAB000029
HPA000452
HPA000453
HPA000539
HPA045062

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 similarity

Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi110070, 38 interactors
DIPiDIP-33093N
IntActiQ04695, 18 interactors
MINTiQ04695
STRINGi9606.ENSP00000308452

Structurei

3D structure databases

ProteinModelPortaliQ04695
SMRiQ04695
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini84 – 395IF rodPROSITE-ProRule annotationAdd BLAST312

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 83HeadAdd BLAST83
Regioni84 – 120Coil 1AAdd BLAST37
Regioni102 – 116Peptide epitope S1; induces T-cell and keratinocyte proliferation and IFN-gamma productionAdd BLAST15
Regioni121 – 138Linker 1Add BLAST18
Regioni139 – 230Coil 1BAdd BLAST92
Regioni153 – 167Peptide epitope S2; induces T-cell proliferation and IFN-gamma productionAdd BLAST15
Regioni231 – 250Linker 12Add BLAST20
Regioni251 – 392Coil 2Add BLAST142
Regioni332 – 346Peptide epitope S4; induces T-cell and keratinocyte proliferation and IFN-gamma productionAdd BLAST15
Regioni393 – 432TailAdd BLAST40

Sequence similaritiesi

Belongs to the intermediate filament family.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IFTF Eukaryota
ENOG410Y9IV LUCA
GeneTreeiENSGT00900000140820
HOVERGENiHBG013015
InParanoidiQ04695
KOiK07604
OMAiQYHRTIE
OrthoDBiEOG091G087I
PhylomeDBiQ04695
TreeFamiTF332742

Family and domain databases

InterProiView protein in InterPro
IPR001664 IF
IPR018039 IF_conserved
IPR039008 IF_rod_dom
IPR002957 Keratin_I
PANTHERiPTHR23239 PTHR23239, 1 hit
PfamiView protein in Pfam
PF00038 Filament, 1 hit
PRINTSiPR01248 TYPE1KERATIN
SMARTiView protein in SMART
SM01391 Filament, 1 hit
PROSITEiView protein in PROSITE
PS00226 IF_ROD_1, 1 hit
PS51842 IF_ROD_2, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.iShow all

Q04695-1 [UniParc]FASTAAdd to basket
« Hide
        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
Length:432
Mass (Da):48,106
Last modified:January 23, 2007 - v2
Checksum:i35B429243F47EB5C
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5GWP8F5GWP8_HUMAN
Keratin, type I cytoskeletal 17
KRT17
349Annotation score:
K7EPJ9K7EPJ9_HUMAN
Keratin, type I cytoskeletal 17
KRT17
231Annotation score:
K7ESE1K7ESE1_HUMAN
Keratin, type I cytoskeletal 17
KRT17
95Annotation score:

Sequence cautioni

The sequence AAH72018 differs from that shown. Reason: Frameshift at position 109.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti30R → Q in AL353997 (PubMed:16625196).Curated1
Sequence conflicti30R → Q in AC022596 (PubMed:16625196).Curated1
Sequence conflicti42L → P in AL353997 (PubMed:16625196).Curated1
Sequence conflicti42L → P in AC022596 (PubMed:16625196).Curated1
Sequence conflicti51 – 56Missing in BAC04534 (PubMed:14702039).Curated6
Sequence conflicti51T → A in AL353997 (PubMed:16625196).Curated1
Sequence conflicti51T → A in AC022596 (PubMed:16625196).Curated1
Sequence conflicti72S → SS in AL353997 (PubMed:16625196).Curated1
Sequence conflicti73 – 74FG → SFE in AC022596 (PubMed:16625196).Curated2
Sequence conflicti74G → E in AL353997 (PubMed:16625196).Curated1
Sequence conflicti81A → V in AL353997 (PubMed:16625196).Curated1
Sequence conflicti81A → V in AC022596 (PubMed:16625196).Curated1
Sequence conflicti94 – 108Missing in AAH72018 (PubMed:15489334).CuratedAdd BLAST15
Sequence conflicti137T → I in AL353997 (PubMed:16625196).Curated1
Sequence conflicti137T → I in AC022596 (PubMed:16625196).Curated1
Sequence conflicti145 – 147ILT → VGPA in AL353997 (PubMed:16625196).Curated3
Sequence conflicti158Q → H in AC022596 (PubMed:16625196).Curated1
Sequence conflicti159I → N in AL353997 (PubMed:16625196).Curated1
Sequence conflicti163R → H in AL353997 (PubMed:16625196).Curated1
Sequence conflicti163R → H in AC022596 (PubMed:16625196).Curated1
Sequence conflicti167D → A in AL353997 (PubMed:16625196).Curated1
Sequence conflicti167D → A in AC022596 (PubMed:16625196).Curated1
Sequence conflicti180R → C in AL353997 (PubMed:16625196).Curated1
Sequence conflicti180R → C in AC022596 (PubMed:16625196).Curated1
Sequence conflicti190 – 191LR → PC in AL353997 (PubMed:16625196).Curated2
Sequence conflicti190 – 191LR → PC in AC022596 (PubMed:16625196).Curated2
Sequence conflicti204L → P in AL353997 (PubMed:16625196).Curated1
Sequence conflicti207Q → H in AL353997 (PubMed:16625196).Curated1
Sequence conflicti207Q → H in AC022596 (PubMed:16625196).Curated1
Sequence conflicti225Missing in AL353997 (PubMed:16625196).Curated1
Sequence conflicti225Missing in AC022596 (PubMed:16625196).Curated1
Sequence conflicti229L → P in AL353997 (PubMed:16625196).Curated1
Sequence conflicti229L → P in AC022596 (PubMed:16625196).Curated1
Sequence conflicti242D → G in AL353997 (PubMed:16625196).Curated1
Sequence conflicti242D → G in AC022596 (PubMed:16625196).Curated1
Sequence conflicti258D → E in AL353997 (PubMed:16625196).Curated1
Sequence conflicti258D → E in AC022596 (PubMed:16625196).Curated1
Sequence conflicti305R → C in AL353997 (PubMed:16625196).Curated1
Sequence conflicti305R → C in AC022596 (PubMed:16625196).Curated1
Sequence conflicti337V → M in AL353997 (PubMed:16625196).Curated1
Sequence conflicti337V → M in AC022596 (PubMed:16625196).Curated1
Sequence conflicti352Q → R in AL353997 (PubMed:16625196).Curated1
Sequence conflicti352Q → R in AC022596 (PubMed:16625196).Curated1
Sequence conflicti357R → L in AL353997 (PubMed:16625196).Curated1
Sequence conflicti357R → L in AC022596 (PubMed:16625196).Curated1
Sequence conflicti373 – 375VKT → MKM in AL353997 (PubMed:16625196).Curated3
Sequence conflicti373 – 375VKT → MKM in AC022596 (PubMed:16625196).Curated3
Sequence conflicti379Q → L in AL353997 (PubMed:16625196).Curated1
Sequence conflicti379Q → L in AC022596 (PubMed:16625196).Curated1
Sequence conflicti382A → T in AL353997 (PubMed:16625196).Curated1
Sequence conflicti382A → T in AC022596 (PubMed:16625196).Curated1
Sequence conflicti385R → H in AL353997 (PubMed:16625196).Curated1
Sequence conflicti385R → H in AC022596 (PubMed:16625196).Curated1
Sequence conflicti395 – 404LTQYKKEPVT → FRMSESSPVS in AC022596 (PubMed:16625196).Curated10
Sequence conflicti406R → C in AL353997 (PubMed:16625196).Curated1
Sequence conflicti409R → P in AL353997 (PubMed:16625196).Curated1
Sequence conflicti428H → R in AL353997 (PubMed:16625196).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07244188M → K in PC2. 1 PublicationCorresponds to variant dbSNP:rs28928898EnsemblClinVar.1
Natural variantiVAR_01051288M → T in PC2 and SM. 2 PublicationsCorresponds to variant dbSNP:rs28928898EnsemblClinVar.1
Natural variantiVAR_07244291L → P in PC2. 1 Publication1
Natural variantiVAR_07244392 – 99Missing in PC2. 1 Publication8
Natural variantiVAR_00384792N → D in PC2. 1 PublicationCorresponds to variant dbSNP:rs28928896EnsemblClinVar.1
Natural variantiVAR_00384892N → H in SM. 1 PublicationCorresponds to variant dbSNP:rs28928896EnsemblClinVar.1
Natural variantiVAR_00384992N → S in PC2. 6 PublicationsCorresponds to variant dbSNP:rs59151893EnsemblClinVar.1
Natural variantiVAR_01706994 – 98Missing in PC2. 5
Natural variantiVAR_01051394R → C in PC2 and SM. 1 PublicationCorresponds to variant dbSNP:rs58730926EnsemblClinVar.1
Natural variantiVAR_00385094R → H in SM AND PC2. 2 PublicationsCorresponds to variant dbSNP:rs28928897EnsemblClinVar.1
Natural variantiVAR_01706894R → P in PC2. 1 PublicationCorresponds to variant dbSNP:rs28928897EnsemblClinVar.1
Natural variantiVAR_01707195L → P in PC2. 1 PublicationCorresponds to variant dbSNP:rs28928899EnsemblClinVar.1
Natural variantiVAR_01707095L → Q in PC2. 1 PublicationCorresponds to variant dbSNP:rs28928899EnsemblClinVar.1
Natural variantiVAR_01707297Missing in PC2. 1 Publication1
Natural variantiVAR_00385198Y → D in PC2. 1 PublicationCorresponds to variant dbSNP:rs28933088EnsemblClinVar.1
Natural variantiVAR_01707399L → P in PC2. 1 PublicationCorresponds to variant dbSNP:rs28933089EnsemblClinVar.1
Natural variantiVAR_017074102V → M in PC2. 2 PublicationsCorresponds to variant dbSNP:rs59977263EnsemblClinVar.1
Natural variantiVAR_037083109N → D in PC2. 2 PublicationsCorresponds to variant dbSNP:rs267607412EnsemblClinVar.1
Natural variantiVAR_072444388L → P in PC2. 1 PublicationCorresponds to variant dbSNP:rs56690581EnsemblClinVar.1
Natural variantiVAR_072445388L → R in PC2. 1 Publication1

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
CCDSiCCDS11402.1
PIRiS30433
RefSeqiNP_000413.1, NM_000422.2
UniGeneiHs.2785

Genome annotation databases

EnsembliENST00000311208; ENSP00000308452; ENSG00000128422
GeneIDi3872
KEGGihsa:3872
UCSCiuc002hxh.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
CCDSiCCDS11402.1
PIRiS30433
RefSeqiNP_000413.1, NM_000422.2
UniGeneiHs.2785

3D structure databases

ProteinModelPortaliQ04695
SMRiQ04695
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110070, 38 interactors
DIPiDIP-33093N
IntActiQ04695, 18 interactors
MINTiQ04695
STRINGi9606.ENSP00000308452

PTM databases

iPTMnetiQ04695
PhosphoSitePlusiQ04695
SwissPalmiQ04695

Polymorphism and mutation databases

BioMutaiKRT17
DMDMi547751

2D gel databases

SWISS-2DPAGEiQ04695

Proteomic databases

EPDiQ04695
PaxDbiQ04695
PeptideAtlasiQ04695
PRIDEiQ04695
ProteomicsDBi58264
TopDownProteomicsiQ04695

Protocols and materials databases

DNASUi3872
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000311208; ENSP00000308452; ENSG00000128422
GeneIDi3872
KEGGihsa:3872
UCSCiuc002hxh.3 human

Organism-specific databases

CTDi3872
DisGeNETi3872
EuPathDBiHostDB:ENSG00000128422.15
GeneCardsiKRT17
GeneReviewsiKRT17
H-InvDBiHIX0059686
HGNCiHGNC:6427 KRT17
HPAiCAB000029
HPA000452
HPA000453
HPA000539
HPA045062
MalaCardsiKRT17
MIMi148069 gene
167210 phenotype
184500 phenotype
neXtProtiNX_Q04695
OpenTargetsiENSG00000128422
Orphaneti2309 Pachyonychia congenita
841 Sebocystomatosis
PharmGKBiPA30214
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFTF Eukaryota
ENOG410Y9IV LUCA
GeneTreeiENSGT00900000140820
HOVERGENiHBG013015
InParanoidiQ04695
KOiK07604
OMAiQYHRTIE
OrthoDBiEOG091G087I
PhylomeDBiQ04695
TreeFamiTF332742

Enzyme and pathway databases

ReactomeiR-HSA-6805567 Keratinization
R-HSA-6809371 Formation of the cornified envelope
SIGNORiQ04695

Miscellaneous databases

ChiTaRSiKRT17 human
GeneWikiiKeratin_17
GenomeRNAii3872
PMAP-CutDBiQ04695
PROiPR:Q04695
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000128422 Expressed in 179 organ(s), highest expression level in amniotic fluid
ExpressionAtlasiQ04695 baseline and differential
GenevisibleiQ04695 HS

Family and domain databases

InterProiView protein in InterPro
IPR001664 IF
IPR018039 IF_conserved
IPR039008 IF_rod_dom
IPR002957 Keratin_I
PANTHERiPTHR23239 PTHR23239, 1 hit
PfamiView protein in Pfam
PF00038 Filament, 1 hit
PRINTSiPR01248 TYPE1KERATIN
SMARTiView protein in SMART
SM01391 Filament, 1 hit
PROSITEiView protein in PROSITE
PS00226 IF_ROD_1, 1 hit
PS51842 IF_ROD_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiK1C17_HUMAN
AccessioniPrimary (citable) accession number: Q04695
Secondary accession number(s): A5Z1M9
, A5Z1N0, A5Z1N1, A5Z1N2, A6NDV6, A6NKQ2, Q6IP98, Q8N1P6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: January 23, 2007
Last modified: September 12, 2018
This is version 186 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again