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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

KRT17 Gene

protein-coding GIFtS: 64
GCID: GC17M039775

keratin 17

(Previous symbol: PCHC1)

Explore 52 diseases affiliated with
KRT17 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Keratin 17¹ ²		Keratin 17 Epitope S1²
PCHC1¹ ² ⁵		Keratin 17 Epitope S2²
39.1² ³		Keratin 17 Epitope S4²
CK-17² ³		Keratin, Type I Cytoskeletal 17²
K17² ³		Keratin-17³
PC2² ⁵		Cytokeratin-17³
PC²		Keratin-17³
Cytokeratin-17³

External Ids:	HGNC: 6427¹	Entrez Gene: 3872²	Ensembl: ENSG00000128422⁷	OMIM: 148069⁵	UniProtKB: Q04695³

Export aliases for KRT17 gene to outside databases

Previous GC identifers: GC17M039265 GC17M041891 GC17M039545 GC17M040148 GC17M037029 GC17M035538

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for KRT17:

This gene encodes the type I intermediate filament chain keratin 17, expressed in nail bed, hair follicle, sebaceous

glands, and other epidermal appendages. Mutations in this gene lead to Jackson-Lawler type pachyonychia congenita and

steatocystoma multiplex. (provided by RefSeq, Aug 2008)

UniProtKB/Swiss-Prot: K1C17_HUMAN, Q04695

Function: May play a role in the formation and maintenance of various skin appendages, specifically in determining

shape and orientation of hair. May be a marker of basal cell differentiation in complex epithelia and therefore

indicative of a certain type of epithelial "stem cells". 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. Required for the correct growth of hair follicles, in particular for the persistence of the anagen

(growth) state. 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.

Involved in tissue repair (By similarity)

Gene Wiki entry for KRT17 (Keratin 17)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000017.10 NC_018928.1 NT_010783.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the KRT17 gene promoter:
CRE-BP1 STAT1 p53 RREB-1 Lmo2 STAT3 Gfi-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: KRT17 promoter sequence

Search SABiosciences Chromatin IP Primers for KRT17

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KRT17

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q21.2 Ensembl cytogenetic band: 17q21.2 HGNC cytogenetic band: 17q21.2

KRT17 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRT17 gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17M039775: view genomic region (about GC identifiers)

Start:	39,775,689 bp from pter	End:	39,781,094 bp from pter
Size:	5,406 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: K1C17_HUMAN, Q04695 (See protein sequence)

Recommended Name: Keratin, type I cytoskeletal 17

Size: 432 amino acids; 48106 Da

Subunit: Heterodimer of a type I and a type II keratin. KRT17 associates with KRT6 isomers. Interacts with TRADD and

SFN (By similarity)

Subcellular location: Cytoplasm (By similarity)

Miscellaneous: There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to

basic; 56-70 kDa)

Sequence caution: Sequence=AAH72018.1; Type=Frameshift; Positions=109;

Secondary accessions: A5Z1M9 A5Z1N0 A5Z1N1 A5Z1N2 A6NDV6 A6NKQ2 Q6IP98 Q8N1P6

Explore the universe of human proteins at neXtProt for KRT17: NX_Q04695

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q04695

KRT17 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000413.1

ENSEMBL proteins:

ENSP00000308452 ENSP00000468672 ENSP00000467418 ENSP00000466166

Human Recombinant Protein Products:

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	Novus Biologicals KRT17 Protein Novus Biologicals KRT17 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for KRT17

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IEA	--
GO:0005882	intermediate filament	IEA	--
GO:0045111	intermediate filament cytoskeleton	--	--
GO:0071944	cell periphery	IEA	--

KRT17 for ontologies About GeneDecksing

KRT17 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of KRT17
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	OriGene Antibodies (see all 2): KRT17 OriGene Custom Antibody Services for KRT17
	GenScript Custom Superior Antibodies Services for KRT17
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	Abcam antibodies for KRT17
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	ThermoFisher Antibody for KRT17

Assay Products for KRT17:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for KRT17
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for KRT17

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

KRT17 for domains About GeneDecksing

5 InterPro domains/families:

IPR018039 Intermediate_filament_CS

IPR001664 IF

IPR002957 Keratin_I

IPR009053 Prefoldin

IPR016044 F

Graphical View of Domain Structure for InterPro Entry Q04695

ProtoNet protein and cluster: Q04695

2 Blocks protein families:

IPB001664 Intermediate filament protein

IPB002957 Type I keratin signature

UniProtKB/Swiss-Prot: K1C17_HUMAN, Q04695

Similarity: Belongs to the intermediate filament family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: K1C17_HUMAN, Q04695

Function: May play a role in the formation and maintenance of various skin appendages, specifically in determining

shape and orientation of hair. May be a marker of basal cell differentiation in complex epithelia and therefore

indicative of a certain type of epithelial "stem cells". 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. Required for the correct growth of hair follicles, in particular for the persistence of the anagen

(growth) state. 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.

Involved in tissue repair (By similarity)

Induction: 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

Genatlas biochemistry entry for KRT17:

keratin 17,type I

miRNA Products:		OriGene 3'-UTR Clone: KRT17 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KRT17
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		hsa-miR-505 hsa-miR-485-5p hsa-miR-3065-5p
		SwitchGear 3'UTR luciferase reporter plasmid: KRT17 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for KRT17

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		GenScript: all cDNA clones in your preferred vector: KRT17 (NM_000422)
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for KRT17
		LifeMap BioReagents: cell line associated with KRT17: PureStem Progenitor E68

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT17

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005200	structural constituent of cytoskeleton	TAS	1281771
GO:0005515	protein binding	IPI	16189514
GO:0032395	MHC class II receptor activity	IDA	15795121
GO:0042289	MHC class II protein binding	IPI	15795121

KRT17 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for KRT17:

Increased G1 DNA content

Animal Models:
Mouse knock-out Krt17^tm1Cou for KRT17
7 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Krt17):

cellular	craniofacial	digestive/alimentary	integument	mortality/aging
no phenotypic analysis	pigmentation

KRT17 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Cytoskeleton remodeling Keratin filaments

Cytoskeleton remodeling Keratin filaments

1.00

Cytoskeleton remodeling_Keratin filaments

0.91

Cytoskeletal Signaling

Cytoskeletal Signaling

1.00

EGFR1 Signaling Pathway

EGFR1 Signaling Pathway

1.00

Glucocorticoid receptor regulatory network

Glucocorticoid receptor regulatory network

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for KRT17

Cytoskeleton remodeling Keratin filaments

1 Cell Signaling Technology (CST) Pathway for KRT17

Cytoskeletal Signaling

1 GeneGo (Thomson Reuters) Pathway for KRT17

Cytoskeleton remodeling Keratin filaments

2 BioSystems Pathways for KRT17

	EGFR1 Signaling Pathway
	Glucocorticoid receptor regulatory network

KRT17 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for KRT17

STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

5/114 Interacting proteins for KRT17 (Q04695^{1, 2, 3} ENSP00000308452⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 114)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CCDC85B	Q15834¹^,²^,³, ENSP00000311695⁴	EBI-297873,EBI-739674 MINT-67143 I2D: score=6 STRING: ENSP00000311695
SFN	P31947²^,³	MINT-7900157 I2D: score=1
KRT8	P05787²^,³, ENSP00000293308⁴	MINT-7899812 MINT-7900157 I2D: score=1 STRING: ENSP00000293308
YWHAQ	P27348²^,³, ENSP00000238081⁴	MINT-7899812 MINT-7900157 I2D: score=1 STRING: ENSP00000238081
YWHAZ	P63104², ENSP00000309503⁴	MINT-7899812 MINT-7900157 STRING: ENSP00000309503

About this table

Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002009	morphogenesis of an epithelium	IEA	--
GO:0007165	signal transduction	IMP	15795121
GO:0008544	epidermis development	TAS	7539673
GO:0030307	positive regulation of cell growth	IEA	--
GO:0031424	keratinization	IEA	--

KRT17 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

KRT17 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for KRT17
10/13 Novoseek chemical compound relationships for KRT17 gene (see all 13) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
acitretin	35.1	1	15608502 (1)
polyvinylpyrrolidone	29.8	1	16969700 (1)
retinoid	25.2	1	1370674 (1)
sodium dodecylsulfate	18.7	5	16472995 (1), 9686973 (1)
paraffin	18.4	2	16365828 (1), 9428928 (1)
nimodipine	15.8	4	17055711 (3), 16472995 (1)
retinoic acid	11	2	1370674 (1), 8647816 (1)
hydrocortisone	4.44	1	15608502 (1)
asparagine	4.08	1	12653736 (1)
oligonucleotide	0	4	14714564 (1)

Search CenterWatch for drugs/clinical trials and news about KRT17 / K1C17

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for KRT17 gene:

NM_000422.2

Unigene Cluster for KRT17:

Keratin 17

Hs.2785 [show with all ESTs]

Unigene Representative Sequence: BG680394

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000311208(uc002hxh.2) ENST00000493253 ENST00000463128 ENST00000577817

ENST00000590038 ENST00000491673(uc010wft.2)

miRNA Products:		OriGene 3'-UTR Clone: KRT17 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KRT17
		3 QIAGEN miScript miRNA Assays for microRNAs that regulate KRT17:
		hsa-miR-505 hsa-miR-485-5p hsa-miR-3065-5p
		SwitchGear 3'UTR luciferase reporter plasmid: KRT17 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KRT17

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KRT17 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KRT17 OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: KRT17 (NM_000422)
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KRT17
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KRT17

Additional cDNA sequence:

AK095342.1 AK304373.1 BC000159.2 BC011901.2 BC056421.1 BC072018.1 BC072019.1 BX647923.1

X05803.1 X62571.1

24/82 DOTS entries (see all 82):

DT.120985764 DT.100857115 DT.119493 DT.100708704 DT.100708693 DT.100708701 DT.120985917 DT.120985830

DT.95164373 DT.100708698 DT.95093143 DT.120986131 DT.120986479 DT.102830066 DT.92410197 DT.92462181

DT.95235133 DT.95217076 DT.100708707 DT.95164428 DT.95164507 DT.99935891 DT.97822128 DT.95177431

24/659 AceView cDNA sequences (see all 659):

AI609210 AU118312 AW368881 BG743329 BF149184 CA433474 BG677893 BG677551

CB127326 CR626072 BG677362 BG698029 CR599390 BI823396 BG874631 AU120147

BM018948 BG675804 BQ376831 BG678257 AW366967 BG679362 CR618580 BG682283

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

KRT17 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTTCCTTGCC

About this image

KRT17 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Lung

Respiratory Bronchioles

Lung

Testis

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 10/11 LifeMap Cells (see all 11)

Name

Category

PureStem™ progenitor E68 (Embryonic Progenitor Cell)

PureStem™ epithelial progenitor E164 (Embryonic Progenitor Cell)

Intermediate Mesoderm, Kidney

PureStem™ progenitor T42 (Embryonic Progenitor Cell)

PureStem™ progenitor E69 (Embryonic Progenitor Cell)

PureStem™ progenitor T36 (Embryonic Progenitor Cell)

PureStem™ progenitor Z1 (Embryonic Progenitor Cell)

HyStem+TGF?3+GDF5-induced SK11 cells (HyStem+TGF?3+GDF5 in...)

Bone, Cartilage

HyStem+TGF?3+GDF5-induced SM30 cells (HyStem+TGF?3+GDF5 in...)

Bone, Cartilage

HyStem+TGF?3+GDF5-induced 7PEND24 cells (HyStem+TGF?3+GDF5 in...)

Bone

HyStem+TGF?3+GDF5-induced 4D20.8 cells (HyStem+TGF?3+GDF5 in...)

Bone, Cartilage

See KRT17 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KRT17

SOURCE GeneReport for Unigene cluster: Hs.2785

UniProtKB/Swiss-Prot: K1C17_HUMAN, Q04695

Tissue specificity: 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)

SABiosciences Custom PCR Arrays for KRT17

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KRT17 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KRT17

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT17

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for KRT17 gene from 3/10 species (see all 10) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	F1NPR7_CHICK⁶ F1NDP0_CHICK⁶	Uncharacterized protein keratin 14 (epidermolysis bullosa simplex, Dowling...	69(a) 68(a)	many ↔ many many ↔ many	27(4280886-4284657) 27(4274019-4277795)
lizard (Anolis carolinensis)	Reptilia	-- --	--	67(a) 66(a)	many ↔ many many ↔ many	6(70844971-70856046) 6(70865556-70875342)
zebrafish (Danio rerio)	Actinopterygii	AF084461.1²	--	75.57(n)		30327 AF084461.1

ENSEMBL Gene Tree for KRT17 (if available)
TreeFam Gene Tree for KRT17 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for KRT17 gene

KRT13² KRT16² KRT26² KRT10² KRT12² KRT18² KRT25² KRT15²

KRT20² KRT27² KRT24² KRT19² KRT9² KRT28² KRT14² KRT23²

18/50 SIMAP similar genes for KRT17 using alignment to 4 protein entries: K1C17_HUMAN (see all proteins) (see all similar genes):

keratin GUCA1B KRT16 KRT15 JUP K14

KRT19 KRT14 KRT32 KRT9 KRT13 KRT33B

KRT31 KRT10 KRT20 KRT27 KRT34 KRT39

KRT17 for paralogs About GeneDecksing

5 Pseudogenes.org Pseudogenes for KRT17
PGOHUM00000239656 PGOHUM00000236940 PGOHUM00000236966 PGOHUM00000237017 PGOHUM00000237254

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs59977263^1,2	C,	pathogenic	39780458(-)	`ACAAGA/GTGCGT`	2	M V	mis¹		0	--	--	--	--
rs28933089^1,2	C	pathogenic	39780466(-)	`CTACCT/CGGACA`	2	/P /L	mis¹		2		NA	4
rs121912478^1,2	C	pathogenic	39780471(-)	`TGGCC-/TCCTACCT`	1	--	cds¹		0	--	--	--	--
rs28928899^1,2	C	pathogenic	39780478(-)	`CCGCCA/C/TGGCCT`	3	Q P L	mis¹		2		NA	4
rs58730926^1,2	C	pathogenic	39780482(-)	`ATGACC/TGCCTG`	2	R C	mis¹		0	--	--	--	--
rs59151893^1,2	C	pathogenic	39780487(-)	`CCTCAA/GTGACC`	2	N S	mis¹		0	--	--	--	--
rs28928898^1,2	C	pathogenic	39780499(-)	`CACCAA/C/TGCAGA`	3	K T M	mis¹		2		NA	4
rs57436765^1,2		untested	39780453(-)	`GTGCGC/TGCCCT`	2	R	syn¹		0	--	--	--	--
rs146982763^1,2		--	39775334(+)	`CCCATA/CCGTTT`	1	--	ds500¹		0	--	--	--	--
rs62066636^1,2	C,F,	--	39775336(+)	`CATCCG/ATTTAT`	1	--	ds500¹		4		NA WA	242

HapMap Linkage Disequilibrium report for KRT17 (39775689 - 39781094 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for KRT17
3 CNVs: 3145 8845 4036
Human Gene Mutation Database (HGMD): KRT17

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KRT17

DNA2.0 Custom Variant and Variant Library Synthesis for KRT17

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

KRT17 for disorders           About GeneDecksing

OMIM gene information: 148069
OMIM disorders: 167210  184500
UniProtKB/Swiss-Prot: K1C17_HUMAN, Q04695

Defects in KRT17 are a cause of pachyonychia congenita type 2 (PC2) [MIM:167210]; also known as pachyonychia

congenita Jackson-Lawler type. PC2 is an 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

Defects in KRT17 are a cause of steatocystoma multiplex (SM) [MIM:184500]. SM is a disease characterized by

round or oval cystic tumors widely distributed on the back, anterior trunk, arms, scrotum, and thighs

Note=KRT16 and KRT17 are coexpressed only in pathological situations such as metaplasias and carcinomas of the

uterine cervix and in psoriasis vulgaris

20/52 diseases for KRT17 (see all 52): About MalaCards

steatocystoma multiplex pachyonychia congenita pili torti pachyonychia congenita type 2

epidermolysis bullosa simplex epidermolysis bullosa cervical intraepithelial neoplasia ampulla of vater adenocarcinoma

keratoderma ectodermal dysplasia oral submucous fibrosis corneal dystrophy

primary cutaneous amyloidosis monilethrix keratoacanthoma ankylosing spondylitis

contact dermatitis oral squamous cell carcinoma pleuropneumonia squamous cell carcinoma

3 diseases from the University of Copenhagen DISEASES database for KRT17:

Pachyonychia congenita Basal cell carcinoma Psoriasis

10/37 Novoseek disease relationships for KRT17 gene (see all 37) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
pachyonychia congenita, type 2	96.3	14	9028791 (1), 11886499 (1), 9767294 (1), 18547302 (1) (see all 13)
steatocystoma multiplex	88	15	9767294 (3), 9185910 (3), 9008238 (2), 9028791 (1) (see all 6)
pachyonychia congenita, type 1	82.6	2	9028791 (1), 11886499 (1)
nail dystrophy	80	3	9767294 (1), 19609311 (1), 19785597 (1)
pili torti	78.2	4	14714564 (1), 10844551 (1)
keratoderma	77.5	1	19785597 (1)
neppk	76.2	2	9028791 (1)
ectodermal dysplasia	68	1	15102087 (1)
epidermolysis bullosa simplex	67.3	1	14578178 (1)
keratoderma palmoplantar	66.3	2	9028791 (1)

GeneTests: KRT17

Pachyonychia Congenita

Export disorders for KRT17 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for KRT17 gene, integrated from 9 sources (see all 251):
(articles sorted by number of sources associating them with KRT17)

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world of online information

Keratin 16 and keratin 17 mutations cause pachyonychia congenita. (PubMed id 7539673)^{1, 2, 3, 9} McLean W.H.I....Munro C.S. (1995)
Characterization of the human gene encoding cytokeratin 17 and its expression pattern. (PubMed id 1281771)^{1, 2, 3, 9} Troyanovsky S.M.... Franke W.W. (1992)
Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2. (PubMed id 9767294)^{1, 2, 9} Covello S.P.... McLean W.H.I. (1998)
Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex. (PubMed id 9008238)^{1, 2, 9} Smith F.J.D.... McLean W.H.I. (1997)
Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. (PubMed id 11886499)^{1, 2, 9} Terrinoni A.... McLean W.H.I. (2001)
HLA DR B1*04, *07-restricted epitopes on Keratin 17 for autoreactive T cells in psoriasis. (PubMed id 15795121)^{1, 2, 9} Shen Z.... Liu Y.-F. (2005)
Mutation report: identification of a germline mutation in keratin 17 in a family with pachyonychia congenita type 2. (PubMed id 10571744)^{1, 2, 9} Celebi J.T.... Peacocke M. (1999)
Novel keratin 17 mutations in pachyonychia congenita type 2. (PubMed id 11348474)^{1, 2, 9} Smith F.J.D.... McLean W.H.I. (2001)
New consensus nomenclature for mammalian keratins. (PubMed id 16831889)^{1, 3} Schweizer J....Wright M.W. (2006)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 3872	HGNC: 6427	AceView: KRT17andKRT14andKRT16	Ensembl:ENSG00000128422	euGenes: HUgn3872
ECgene: KRT17	H-InvDB: KRT17

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for KRT17	Pharmacogenomics, SNPs, Pathways
Human Intermediate Filament Mutation Database	http://www.interfil.org
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KRT17
Wikipedia	http://en.wikipedia.org/wiki/Keratin_17

Intellectual Property for KRT17 gene
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Patent Information for KRT17 gene:
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GeneCards and IP:
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keratin 17

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BREAST CARCINOMA
COMEDO
Carcinoma Basal Cell
dysplasia
Carcinoma
PILI TORTI
KERATODERMA
Skin Diseases
CORNEAL DYSTROPHY
Metaplasia
Epidermolysis Bullosa Simplex
NEPPK
Adenocarcinoma
PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC
Cancer
Ichthyosis
premalignant
Cervical Intraepithelial Neoplasia
Epidermoid Cyst
Monilethrix
Keratoacanthoma
Nevi
Bowens Disease
Ectodermal Dysplasia
PACHYONYCHIA CONGENITA, TYPE 2
Steatocystoma Multiplex
Keratoderma Palmoplantar
Cysts
Carcinoma Squamous Cell
Psoriasis
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NAIL DYSTROPHY
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KRT17 Gene

keratin 17

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