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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

KRT1 Gene

protein-coding GIFtS: 61
GCID: GC12M053069

keratin 1

(Previous name: epidermolytic hyperkeratosis 1 )
(Previous symbol: EHK1)

Explore 75 diseases affiliated with
KRT1 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 1¹ ²		EPPK² ⁵
EHK1¹ ²		NEPPK² ⁵
KRT1A¹ ²		CK1²
Epidermolytic Hyperkeratosis 1¹ ²		Cytokeratin 1²
Hair Alpha Protein² ³		Cytokeratin-1³
Type-II Keratin Kb1² ³		Keratin, Type II Cytoskeletal 1²
67 KDa Cytokeratin² ³		Cytokeratin-1³
CK-1² ³		KRTA³
K1² ³		Keratin-1³
EHK² ⁵

External Ids:	HGNC: 6412¹	Entrez Gene: 3848²	Ensembl: ENSG00000167768⁷	OMIM: 139350⁵	UniProtKB: P04264³

Export aliases for KRT1 gene to outside databases

Previous GC identifers: GC12M053203 GC12M053098 GC12M052785 GC12M051354 GC12M050112

(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 KRT1:

The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or

neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of

simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the spinous and

granular layers of the epidermis with family member KRT10 and mutations in these genes have been associated with

bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome

12q12-q13. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: K2C1_HUMAN, P04264

Function: May regulate the activity of kinases such as PKC and SRC via binding to integrin beta-1 (ITB1) and the

receptor of activated protein kinase C (RACK1/GNB2L1). In complex with C1QBP is a high affinty receptor for

kininogen-1/HMWK

Gene Wiki entry for KRT1 (Keratin 1)

(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_000012.11 NC_018923.1 NT_029419.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the KRT1 gene promoter:
E2F-3a CREB E2F-1 E2F p53 deltaCREB E2F-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: KRT1 promoter sequence

Search SABiosciences Chromatin IP Primers for KRT1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KRT1

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

Entrez Gene cytogenetic band: 12q13.13 Ensembl cytogenetic band: 12q13.13 HGNC cytogenetic band: 12q13.13

KRT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRT1 gene location

GeneLoc information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12M053069: view genomic region (about GC identifiers)

Start:	53,068,520 bp from pter	End:	53,074,191 bp from pter
Size:	5,672 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: K2C1_HUMAN, P04264 (See protein sequence)

Recommended Name: Keratin, type II cytoskeletal 1

Size: 644 amino acids; 66039 Da

Subunit: Heterotetramer of two type I and two type II keratins. Keratin-1 is generally associated with keratin-10.

Interacts with ITGB1 in the presence of GNB2L1 and SRC, and with GNB2L1. Interacts with C1QBP; the association

represents a cell surface kininogen receptor

Subcellular location: Cell membrane. Note=Located on plasma membrane of neuroblastoma NMB7 cells

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

basic; 56-70 kDa)

Secondary accessions: B2RA01 Q14720 Q6GSJ0 Q9H298

Explore the universe of human proteins at neXtProt for KRT1: NX_P04264

Post-translational modifications:

Undergoes deimination of some arginine residues (citrullination)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P04264

KRT1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_006112.3

ENSEMBL proteins:

ENSP00000252244

Human Recombinant Protein Products:

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	Uscn Proteins for KRT1

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005856	cytoskeleton	TAS	1381288
GO:0005882	intermediate filament	TAS	1380725
GO:0005886	plasma membrane	IEA	--
GO:0016020	membrane	IDA	11290596
GO:0045095	keratin filament	IEA	--

KRT1 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for KRT1

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

KRT1 for domains About GeneDecksing

5 InterPro domains/families:

IPR018039 Intermediate_filament_CS

IPR001664 IF

IPR009053 Prefoldin

IPR016044 F

IPR003054 Keratin_II

Graphical View of Domain Structure for InterPro Entry P04264

ProtoNet protein and cluster: P04264

3 Blocks protein families:

IPB001664 Intermediate filament protein

IPB002957 Type I keratin signature

IPB003054 Type II keratin signature

UniProtKB/Swiss-Prot: K2C1_HUMAN, P04264

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: K2C1_HUMAN, P04264

Function: May regulate the activity of kinases such as PKC and SRC via binding to integrin beta-1 (ITB1) and the

receptor of activated protein kinase C (RACK1/GNB2L1). In complex with C1QBP is a high affinty receptor for

kininogen-1/HMWK

Genatlas biochemistry entry for KRT1:

keratin 1,type II,epidermal,suprabasal (spinous) layer 50kDa,dimerizing with KRT10,also with KRT9. Also acting as a

binding protein and presentation for kininogens on endothelial cells

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KRT1
		6 QIAGEN miScript miRNA Assays for microRNAs that regulate KRT1:
		hsa-miR-3671 hsa-miR-3173-3p hsa-miR-203 hsa-miR-607 hsa-miR-4252 hsa-miR-105
		SwitchGear 3'UTR luciferase reporter plasmid: KRT1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for KRT1 (see all 7) OriGene shRNA RFP: KRT1 OriGene siRNA: KRT1
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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for KRT1

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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for KRT1
		Search LifeMap BioReagents cell lines for KRT1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT1

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:0004872	receptor activity	NAS	11290596
GO:0005200	structural constituent of cytoskeleton	TAS	1380725
GO:0005515	protein binding	IPI	11290596
GO:0030246	carbohydrate binding	IPI	11549596

KRT1 for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for KRT1:

Increased cell number in S and

Synthetic lethal with Ras

Animal Models:
4 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Krt1):

homeostasis/metabolism

integument

mortality/aging

pigmentation

KRT1 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

Regulation of Wnt-mediated beta catenin signaling and target gene transcription

Regulation of Wnt-mediated beta catenin signaling and target gene transcription

1.00

G-Beta Gamma Signaling

CRHR Pathway

0.44

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for KRT1

Cytoskeleton remodeling Keratin filaments

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for KRT1

CRHR Pathway

1 GeneGo (Thomson Reuters) Pathway for KRT1

Cytoskeleton remodeling Keratin filaments

1 BioSystems Pathway for KRT1

Regulation of Wnt-mediated beta catenin signaling and target gene transcription

KRT1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for KRT1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/105 Interacting proteins for KRT1 (P04264^{2, 3} ENSP00000252244⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 105)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TANK	Q92844²^,³, ENSP00000259075⁴	MINT-48270 I2D: score=2 STRING: ENSP00000259075
TJP1	Q07157²^,³, ENSP00000281537⁴	MINT-2984771 I2D: score=2 STRING: ENSP00000281537
YWHAQ	P27348²^,³, ENSP00000238081⁴	MINT-51001 I2D: score=4 STRING: ENSP00000238081
APC	P25054³, ENSP00000257430⁴	I2D: score=2 STRING: ENSP00000257430
CALB2	P22676³, ENSP00000307508⁴	I2D: score=2 STRING: ENSP00000307508

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001867	complement activation, lectin pathway	IPI	11549596
GO:0006979	response to oxidative stress	NAS	11549596
GO:0008544	epidermis development	TAS	1380725
GO:0042730	fibrinolysis	NAS	11290596
GO:0045765	regulation of angiogenesis	NAS	11290596

KRT1 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

KRT1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for KRT1
10/33 Novoseek chemical compound relationships for KRT1 gene (see all 33) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
kininogen	80.4	17	9520414 (2), 10596854 (1), 11094332 (1), 11204562 (1) (see all 13)
ceramides	45.1	3	9209676 (2), 8589886 (1)
retinoic acid	41.8	12	10692107 (2), 7687781 (1), 7535512 (1), 10983416 (1) (see all 8)
tazarotene	40.5	2	10692107 (1), 11558869 (1)
12-o-tetradecanoylphorbol 13-acetate	35.5	2	10365914 (1)
retinoid	25	3	11558869 (2), 10692107 (1)
isotretinoin	23.8	2	10983416 (1)
bromodeoxyuridine	19.7	1	12190864 (1)
arginine	12	2	8751983 (1), 7532198 (1)
asparagine	9.66	1	10232403 (1)

Search CenterWatch for drugs/clinical trials and news about KRT1 / K2C1

(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 KRT1 gene:

NM_006121.3

Unigene Cluster for KRT1:

Keratin 1

Hs.80828 [show with all ESTs]

Unigene Representative Sequence: BC063697

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

ENST00000252244(uc001sau.1 uc001sav.1) ENST00000548765

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KRT1
		6 QIAGEN miScript miRNA Assays for microRNAs that regulate KRT1:
		hsa-miR-3671 hsa-miR-3173-3p hsa-miR-203 hsa-miR-607 hsa-miR-4252 hsa-miR-105
		SwitchGear 3'UTR luciferase reporter plasmid: KRT1 3' UTR sequence

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KRT1

Additional cDNA sequence:

AK313986.1 BC063697.1 M10938.1

9 DOTS entries:

DT.455895 DT.95199129 DT.121118511 DT.121118542 DT.100870720 DT.91841352 DT.121117943 DT.121119193

DT.95199149

3 AceView cDNA sequences:

BC063697 NM_006121 M10938

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

KRT1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACATTTCAAA

About this image

KRT1 expression in embryonic tissues and stem cells

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

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Lateral Plate Mesoderm

Intraembryonic Coelom

Mesothelial Cells

Selective marker (cell-identifying gene)

Smooth Muscle

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See KRT1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KRT1

SOURCE GeneReport for Unigene cluster: Hs.80828

UniProtKB/Swiss-Prot: K2C1_HUMAN, P04264

Tissue specificity: The source of this protein is neonatal foreskin. The 67-kDa type II keratins are expressed in

terminally differentiating epidermis

SABiosciences Expression via Pathway-Focused PCR Arrays including KRT1:

Terminal Differentiation Markers in human mouse rat

Oxidative Stress in human mouse rat

Nitric Oxide Signaling Pathway in human mouse rat

Embryonic Stem Cells in human mouse rat

Notch Signaling Pathway in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT1

(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 animals.

Orthologs for KRT1 gene from 4/13 species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	Q6PVZ5_CHICK⁶ KRT8⁶	--	60(a) 40(a)	possible ortholog possible ortholog	E22C19W28_E50C23(642021-648330) E22C19W28_E50C23(508667-511528)
lizard (Anolis carolinensis)	Reptilia	-- -- (see all 3)	--	56(a) (see all 3)	possible ortholog possible ortholog (see all 3)	AAWZ02039762(4434-6932) 2(95689880-95702695)
zebrafish (Danio rerio)	Actinopterygii	zgc:136930⁶ wu:fb15e04⁶ (see all 3)	wu:fb15e04 (see all 3)	20(a) 18(a) (see all 3)	possible ortholog possible ortholog (see all 3)	2(32498013-32508762) 21(24464941-24474821)
worm (Caenorhabditis elegans)	Secernentea	ifp-1⁶ ifc-2⁶ (see all 12)	Intermediate filament protein ifc-2 (see all 12)	7(a) 6(a) (see all 12)	possible ortholog possible ortholog (see all 12)	X(9675786-9680111) X(642160-654902)

ENSEMBL Gene Tree for KRT1 (if available)
TreeFam Gene Tree for KRT1 (if available)

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

Paralogs for KRT1 gene

KRT74² KRT77² KRT6B² KRT83² KRT76² KRT86² KRT3² KRT84²

KRT8² KRT81² KRT71² KRT8P11² KRT78² KRT7² ENSG00000170442² KRT79²

KRT72² KRT73² KRT5² KRT6C² KRT6A² KRT85² KRT75² KRT2²

KRT82² KRT4²

18/49 SIMAP similar genes for KRT1 using alignment to 7 protein entries: K2C1_HUMAN (see all proteins) (see all similar genes):

KRT1B KRT7 KRTHB6 KRT5 KRT2 KRT78

KRT4 KRT8 KRT72 KRT6A KRT6B KRT6C

KRT86 KRT77 KRT3 KRT76 KRT75 KRT79

KRT1 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for KRT1
PGOHUM00000239458

(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

UniProtKB/Swiss-Prot: K2C1_HUMAN, P04264

Polymorphism: There are two size variants of KRT1, termed allele 1A and allele 1B with allelic frequencies of 0.61 and

0.39. Allele 1B lacks 7 residues compared to allele 1A

SNP ID	Valid	Clinical significance	Chr 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs58420087^1,2	C	pathogenic	50113919(-)	`CACCTA/GCAGGA`	2	Y C	mis¹		0	--	--	--	--
rs57837128^1,2	C	pathogenic	50113928(-)	`GGAGAC/TTGCCA`	2	T I	mis¹		0	--	--	--	--
rs61218439^1,2	C	pathogenic	50113929(-)	`TGGAGA/TTTGCC`	2	I F	mis¹		0	--	--	--	--
rs59429455^1,2	C	pathogenic	50117400(-)	`CTCAAA/CAACCA`	2	K N	mis¹		0	--	--	--	--
rs57695159^1,2	C	pathogenic	50117482(-)	`GAGCCC/TTCTTC`	2	P L	mis¹		0	--	--	--	--
rs57959072^1,2	C	pathogenic	50117500(-)	`AGAAGA/G/TCACTA`	3	D G V	mis¹		0	--	--	--	--
rs57977969^1,2	C	pathogenic	50117743(-)	`CAGTAA/TAAGCA`	2	K I	mis¹		0	--	--	--	--
rs60279707^1,2	C	untested	50113896(-)	`GAGAAA/C/GAAAGC`	3	K Q E	mis¹		0	--	--	--	--
rs56914602^1,2	C	untested	50113907(-)	`CCTCCC/G/TGGAGG`	3	P R L	mis¹		0	--	--	--	--
rs59089201^1,2	C	untested	50113932(-)	`ATCTGA/C/GAGATT`	3	K Q E	mis¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for KRT1 (53068520 - 53074191 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for KRT1: --
Human Gene Mutation Database (HGMD): KRT1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KRT1

DNA2.0 Custom Variant and Variant Library Synthesis for KRT1

(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

KRT1 for disorders           About GeneDecksing

OMIM gene information: 139350
OMIM disorders: 113800  607602  600962  144200  607654
UniProtKB/Swiss-Prot: K2C1_HUMAN, P04264

Defects in KRT1 are a cause of epidermolytic hyperkeratosis (EHK) [MIM:113800]. An autosomal dominant skin

disorder characterized by widespread blistering and an ichthyotic erythroderma at birth that persist into adulthood.

Histologically there is a diffuse epidermolytic degeneration in the lower spinous layer of the epidermis. Within a few

weeks from birth, erythroderma and blister formation diminish and hyperkeratoses develop

Defects in KRT1 are the cause of ichthyosis hystrix Curth-Macklin type (IHCM) [MIM:146590]. IHCM is a

genodermatosis with severe verrucous hyperkeratosis. Affected individuals manifest congenital verrucous black scale on

the scalp, neck, and limbs with truncal erythema, palmoplantar keratoderma and keratoses on the lips, ears, nipples

and buttocks

Defects in KRT1 are a cause of palmoplantar keratoderma non-epidermolytic (NEPPK) [MIM:600962]. NEPKK is a

dermatological disorder characterized by focal palmoplantar keratoderma with oral, genital, and follicular lesions

Defects in KRT1 are a cause of ichthyosis annular epidermolytic (AEI) [MIM:607602]; also known as cyclic

ichthyosis with epidermolytic hyperkeratosis. AEI is a skin disorder resembling bullous congenital ichthyosiform

erythroderma. Affected individuals present with bullous ichthyosis in early childhood and hyperkeratotic lichenified

plaques in the flexural areas and extensor surfaces at later ages. The feature that distinguishes AEI from BCIE is

dramatic episodes of flares of annular polycyclic plaques with scale, which coalesce to involve most of the body

surface and can persist for several weeks or even months

Defects in KRT1 are the cause of palmoplantar keratoderma striate type 3 (SPPK3) [MIM:607654]; also known as

keratosis palmoplantaris striata III. SPPK3 is a dermatological disorder affecting palm and sole skin where stratum

corneum and epidermal layers are thickened. There is no involvement of non-palmoplantar skin, and both hair and nails

are normal

20/75 diseases for KRT1 (see all 75): About MalaCards

ichthyosis histrix, curth-macklin palmoplantar keratoderma, nonepidermolytic congenital ichthyosiform erythroderma epidermolytic hyperkeratosis ichthyosis hystrix, curth macklin type

plamoplantar keratoderma, epidermolytic keratosis palmoplantaris striata iii ichthyosis histrix cyclic ichthyosis with epidermolytic hyperkeratosis

recessive dystrophic epidermolysis bullosa epidermolysis bullosa epidermolysis bullosa simplex epidermolytic palmoplantar keratoderma

keratoderma focal palmoplantar keratoderma eccrine porocarcinoma middle ear cholesteatoma

ichthyosis bullosa of siemens lichen planus ichthyosis epidermolytic acanthoma

5 diseases from the University of Copenhagen DISEASES database for KRT1:

Epidermolytic hyperkeratosis Keratosis Epidermolysis bullosa simplex Epidermolytic acanthoma

Congenital ichthyosiform erythroderma

10/42 Novoseek disease relationships for KRT1 gene (see all 42) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
bullous congenital ichthyosiform erythroderma	94	18	14705805 (1), 16361731 (1), 7507152 (1), 11531804 (1) (see all 16)
keratoderma palmoplantar	85.3	15	11558869 (2), 11982762 (1), 15214894 (1), 10597140 (1) (see all 11)
hyperkeratosis	84.2	8	14705805 (1), 15214894 (1), 10597140 (1), 11286616 (1) (see all 6)
palmoplantar keratoderma, epidermolytic	83.5	4	16439967 (1), 11286630 (1), 16417221 (1), 19470048 (1)
ichthyosis	80.4	11	20500210 (2), 11676820 (1), 7521372 (1), 16417221 (1) (see all 8)
epidermolysis bullosa simplex	72.2	6	12648226 (2), 16417221 (1)
keratoderma	67.9	4	7528239 (1), 9482839 (1), 11558869 (1)
skin diseases	54.8	7	8844119 (1), 9742571 (1), 7512983 (1), 8603923 (1) (see all 6)
sarcoma epithelioid	47.3	2	11521233 (2)
carcinoma squamous cell	44.5	6	7682400 (1), 11054023 (1), 8634660 (1), 7690007 (1) (see all 6)

Human Genome Epidemiology (HuGE) Navigator: KRT1 (1 document)

Export disorders for KRT1 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 KRT1 gene, integrated from 9 sources (see all 329):
(articles sorted by number of sources associating them with KRT1)

Utopia: connect your pdf to the dynamic
world of online information

Two cases of primarily palmoplantar keratoderma associated with novel mutations in keratin 1. (PubMed id 12406346)^{1, 2, 9} Terron-Kwiatkowski A.... Irvine A.D. (2002)
Epidermolytic hyperkeratosis with polycyclic psoriasiform plaques resulting from a mutation in the keratin 1 gene. (PubMed id 10597140)^{1, 2, 9} Michael E.J.... Christiano A.M. (1999)
Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds. (PubMed id 11286630)^{1, 2, 9} Hatsell S.J.... Kelsell D.P. (2001)
New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens. (PubMed id 11531804)^{1, 2, 9} Whittock N.V....McGrath J.A. (2001)
Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity. (PubMed id 7512983)^{1, 2, 9} Syder A.J.... Fuchs E. (1994)
A leucine-->proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis. (PubMed id 1381288)^{1, 2, 9} Chipev C.C.... Steinert P.M. (1992)
Epidermolytic hyperkeratosis in a Hispanic family resulting from a mutation in the keratin 1 gene. (PubMed id 10844506)^{1, 2, 9} Cserhalmi-Friedman P.B.... Christiano A.M. (2000)
Identification of a novel mutation in keratin 1 in a family with epidermolytic hyperkeratosis. (PubMed id 10688370)^{1, 2, 9} Arin M.J.... Roop D.R. (2000)
An asparagine to threonine substitution in the 1A domain of keratin 1: a novel mutation that causes epidermolytic hyperkeratosis. (PubMed id 10232403)^{1, 2, 9} Arin M.J....Roop D.R. (1999)
A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma. (PubMed id 7528239)^{1, 2, 9} Kimonis V....Compton J.G. (1994)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		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: 3848	HGNC: 6412	AceView: KRT1	Ensembl:ENSG00000167768	euGenes: HUgn3848
ECgene: KRT1	H-InvDB: KRT1

(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 KRT1	Pharmacogenomics, SNPs, Pathways
Human Intermediate Filament Mutation Database	http://www.interfil.org
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KRT1
Wikipedia	http://en.wikipedia.org/wiki/Keratin_1

Intellectual Property for KRT1 gene
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Patent Information for KRT1 gene:
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GeneCards and IP:
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KRT1 Gene

keratin 1

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KRT1 (Gene Symbol)
Keratin 1
EHK1
KRT1A
Epidermolytic Hyperkeratosis 1
Hair Alpha Protein
Type-II Keratin Kb1
67 KDa Cytokeratin
CK-1
K1
EHK
EPPK
NEPPK
CK1
Cytokeratin 1
Cytokeratin-1
Keratin, Type II Cytoskeletal 1
Cytokeratin-1
KRTA
Keratin-1

BREAST CARCINOMA
skin tumor
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Ameloblastoma
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Chordoma
Adenocarcinoma
HEPATOCELLULAR CARCINOMA
CERVICAL CARCINOMA
PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC
THYROID PAPILLARY CARCINOMA
Cancer
premalignant
Ichthyosis
Sarcoma Epithelioid
Syringoma
Sarcoma Synovial
Leukoplakia
Nevi
Meningioma
Bowens Disease
Fibroma
Inflammation
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Keratoderma Palmoplantar
Carcinoma Squamous Cell
Bullous Congenital Ichthyosiform Erythroderma
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KRT1 Gene

keratin 1

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