Human Gene KRT1 (ENST00000252244.3) from GENCODE V38
  Description: Homo sapiens keratin 1 (KRT1), mRNA. (from RefSeq NM_006121)
RefSeq Summary (NM_006121): 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].
Gencode Transcript: ENST00000252244.3
Gencode Gene: ENSG00000167768.4
Transcript (Including UTRs)
   Position: hg38 chr12:52,674,736-52,680,407 Size: 5,672 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg38 chr12:52,675,193-52,680,348 Size: 5,156 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2021-09-27 09:51:20

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:52,674,736-52,680,407)mRNA (may differ from genome)Protein (644 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGImyGene2neXtProtOMIM
PubMedReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: K2C1_HUMAN
DESCRIPTION: RecName: Full=Keratin, type II cytoskeletal 1; AltName: Full=67 kDa cytokeratin; AltName: Full=Cytokeratin-1; Short=CK-1; AltName: Full=Hair alpha protein; AltName: Full=Keratin-1; Short=K1; AltName: Full=Type-II keratin Kb1;
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).
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.
SUBCELLULAR LOCATION: Cell membrane. Note=Located on plasma membrane of neuroblastoma NMB7 cells.
TISSUE SPECIFICITY: The source of this protein is neonatal foreskin. The 67-kDa type II keratins are expressed in terminally differentiating epidermis.
PTM: Undergoes deimination of some arginine residues (citrullination).
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.
DISEASE: 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.
DISEASE: 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.
DISEASE: 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.
DISEASE: 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.
DISEASE: 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.
MISCELLANEOUS: There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa).
SIMILARITY: Belongs to the intermediate filament family.
WEB RESOURCE: Name=Human Intermediate Filament Mutation Database; URL="http://www.interfil.org";
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KRT1";
WEB RESOURCE: Name=Wikipedia; Note=Keratin-1 entry; URL="http://en.wikipedia.org/wiki/Keratin_1";

-  MalaCards Disease Associations
  MalaCards Gene Search: KRT1
Diseases sorted by gene-association score: ichthyosis histrix, curth-macklin type* (1250), palmoplantar keratoderma, nonepidermolytic* (1204), epidermolytic hyperkeratosis* (1148), ichthyosis, cyclic, with epidermolytic hyperkeratosis* (1096), keratosis palmoplantaris striata iii* (900), palmoplantar keratoderma, epidermolytic* (722), ichthyosis with confetti* (260), palmoplantar keratoderma, bothnian type* (231), striate palmoplantar keratoderma* (213), krt1-related epidermolytic hyperkeratosis* (100), ichthyosis (20), congenital ichthyosiform erythroderma (16), ichthyosis bullosa of siemens (15), palmoplantar keratosis (13), epithelioid sarcoma (12), epidermolysis bullosa simplex (12), ichthyosis vulgaris (10), epidermolytic acanthoma (9), filamentary keratitis (9), eccrine porocarcinoma (9), leukoplakia (8), skin disease (8), keratosis (8), meleda disease (7), skin benign neoplasm (6), acanthoma (6), osteofibrous dysplasia (6), epidermodysplasia verruciformis (5), white sponge nevus 1 (4), papilloma (2), neuroblastoma (2), dyskeratosis congenita (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D001564 Benzo(a)pyrene
  • D002118 Calcium
  • D011794 Quercetin
  • D014212 Tretinoin
  • C014707 nitrosobenzylmethylamine
  • C017947 sodium arsenite
  • C403065 10-(fluoroethoxyphosphinyl)-N-(biotinamidopentyl)decanamide
  • D019377 12-Hydroxy-5,8,10,14-eicosatetraenoic Acid
  • C025984 15-hydroxy-5,8,11,13-eicosatetraenoic acid
  • C093973 2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one
          more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6688.35 RPKM in Skin - Not Sun Exposed (Suprapubic)
Total median expression: 12996.64 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -9.8059-0.166 Picture PostScript Text
3' UTR -110.80457-0.242 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016044 - F
IPR001664 - IF
IPR018039 - Intermediate_filament_CS
IPR003054 - Keratin_II
IPR009053 - Prefoldin

Pfam Domains:
PF00038 - Intermediate filament protein

ModBase Predicted Comparative 3D Structure on P04264
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005198 structural molecule activity
GO:0005515 protein binding
GO:0030246 carbohydrate binding
GO:0030280 structural constituent of epidermis
GO:0038023 signaling receptor activity
GO:0046982 protein heterodimerization activity

Biological Process:
GO:0001867 complement activation, lectin pathway
GO:0001895 retina homeostasis
GO:0006979 response to oxidative stress
GO:0007165 signal transduction
GO:0018149 peptide cross-linking
GO:0031424 keratinization
GO:0042730 fibrinolysis
GO:0043312 neutrophil degranulation
GO:0045765 regulation of angiogenesis
GO:0051290 protein heterotetramerization
GO:0070268 cornification

Cellular Component:
GO:0001533 cornified envelope
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005882 intermediate filament
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0031012 extracellular matrix
GO:0045095 keratin filament
GO:0070062 extracellular exosome
GO:0072562 blood microparticle
GO:1904813 ficolin-1-rich granule lumen


-  Descriptions from all associated GenBank mRNAs
  JD450454 - Sequence 431478 from Patent EP1572962.
BC028294 - Homo sapiens mRNA similar to keratin 1 (epidermolytic hyperkeratosis) (cDNA clone IMAGE:4779138).
BC063697 - Homo sapiens keratin 1, mRNA (cDNA clone MGC:75449 IMAGE:4746001), complete cds.
M10938 - Human epidermal 67-kDa type II keratin mRNA.
JD287770 - Sequence 268794 from Patent EP1572962.
JD133986 - Sequence 115010 from Patent EP1572962.
JD248399 - Sequence 229423 from Patent EP1572962.
JD500724 - Sequence 481748 from Patent EP1572962.
JD551971 - Sequence 532995 from Patent EP1572962.
KJ897109 - Synthetic construct Homo sapiens clone ccsbBroadEn_06503 KRT1 gene, encodes complete protein.
KR711384 - Synthetic construct Homo sapiens clone CCSBHm_00023287 KRT1 (KRT1) mRNA, encodes complete protein.
AK313986 - Homo sapiens cDNA, FLJ94638, highly similar to Homo sapiens keratin 1 (epidermolytic hyperkeratosis) (KRT1), mRNA.
LF326319 - JP 2014500723-A/133822: Polycomb-Associated Non-Coding RNAs.
MA561896 - JP 2018138019-A/133822: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P04264 (Reactome details) participates in the following event(s):

R-HSA-6800434 Exocytosis of ficolin-rich granule lumen proteins
R-HSA-6805546 Keratin type I binds keratin type II
R-HSA-6805573 Keratin type I/type II heterodimers form tetramers
R-HSA-6806613 Keratin tetramers bind to form unit length filaments
R-HSA-6798695 Neutrophil degranulation
R-HSA-168249 Innate Immune System
R-HSA-6805567 Keratinization
R-HSA-168256 Immune System
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: B2RA01, ENST00000252244.1, ENST00000252244.2, K2C1_HUMAN, KRTA, NM_006121, P04264, Q14720, Q6GSJ0, Q9H298, uc001sau.1
UCSC ID: ENST00000252244.3
RefSeq Accession: NM_006121
Protein: P04264 (aka K2C1_HUMAN)
CCDS: CCDS8836.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.