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Protein

Keratin, type II cytoskeletal 1

Gene

KRT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

May regulate the activity of kinases such as PKC and SRC via binding to integrin beta-1 (ITB1) and the receptor of activated protein C kinase 1 (RACK1). In complex with C1QBP is a high affinity receptor for kininogen-1/HMWK.2 Publications

Miscellaneous

There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa).

Caution

A peptide corresponding to residues 278 to 289 was isolated as part of plant proteomics studies and was originally thought to be of plant origin (PubMed:18602030, PubMed:19412582, PubMed:16529377). However, it was later shown that it is likely to be human type II keratin, a common contaminant in proteomic analyses (PubMed:23895828).1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei433Stutter1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • carbohydrate binding Source: UniProtKB
  • protein heterodimerization activity Source: UniProtKB
  • signaling receptor activity Source: UniProtKB
  • structural constituent of epidermis Source: CAFA

GO - Biological processi

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-6798695 Neutrophil degranulation
R-HSA-6805567 Keratinization
R-HSA-6809371 Formation of the cornified envelope

SIGNOR Signaling Network Open Resource

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SIGNORi
P04264

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Keratin, type II cytoskeletal 1
Alternative name(s):
67 kDa cytokeratin
Cytokeratin-1
Short name:
CK-1
Hair alpha protein
Keratin-1
Short name:
K1
Type-II keratin Kb1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:KRT1
Synonyms:KRTA
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 12

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000167768.4

Human Gene Nomenclature Database

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HGNCi
HGNC:6412 KRT1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
139350 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P04264

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cell membrane, Intermediate filament, Keratin, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Epidermolytic hyperkeratosis (EHK)12 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:113800
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_017820155V → D in EHK. 1 PublicationCorresponds to variant dbSNP:rs57959072EnsemblClinVar.1
Natural variantiVAR_003853155V → G in EHK. 1 PublicationCorresponds to variant dbSNP:rs57959072EnsemblClinVar.1
Natural variantiVAR_003854161L → P in EHK. 1 PublicationCorresponds to variant dbSNP:rs57695159EnsemblClinVar.1
Natural variantiVAR_003855186S → P in EHK. 1 PublicationCorresponds to variant dbSNP:rs60022878EnsemblClinVar.1
Natural variantiVAR_017821188N → K in EHK. 2 PublicationsCorresponds to variant dbSNP:rs59429455EnsemblClinVar.1
Natural variantiVAR_003856188N → S in EHK. 3 PublicationsCorresponds to variant dbSNP:rs58928370EnsemblClinVar.1
Natural variantiVAR_017822188N → T in EHK; severe. 1 PublicationCorresponds to variant dbSNP:rs58928370EnsemblClinVar.1
Natural variantiVAR_003857193S → P in EHK. 1 PublicationCorresponds to variant dbSNP:rs60937700EnsemblClinVar.1
Natural variantiVAR_017823214L → P in EHK. 1 PublicationCorresponds to variant dbSNP:rs61549035EnsemblClinVar.1
Natural variantiVAR_017824340D → V in EHK. 1 PublicationCorresponds to variant dbSNP:rs58062863EnsemblClinVar.1
Natural variantiVAR_071986478E → Q in EHK. 1 PublicationCorresponds to variant dbSNP:rs59089201EnsemblClinVar.1
Natural variantiVAR_017827482Y → C in EHK. 1 PublicationCorresponds to variant dbSNP:rs58420087EnsemblClinVar.1
Natural variantiVAR_071987485L → P in EHK. 1 PublicationCorresponds to variant dbSNP:rs267607430EnsemblClinVar.1
Natural variantiVAR_017828486L → P in EHK. 2 PublicationsCorresponds to variant dbSNP:rs56914602EnsemblClinVar.1
Natural variantiVAR_071988490E → K in EHK. 1 PublicationCorresponds to variant dbSNP:rs60279707EnsemblClinVar.1
Natural variantiVAR_003861490E → Q in EHK. 1 PublicationCorresponds to variant dbSNP:rs60279707EnsemblClinVar.1
Ichthyosis hystrix, Curth-Macklin type (IHCM)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:146590
Keratoderma, palmoplantar, non-epidermolytic (NEPPK)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA dermatological disorder characterized by well-demarcated hyperkeratosis is present over the palms and soles. A red band is frequently present at the periphery of the keratosis. It is usually non-transgredient, with a sharp demarcation of the lesions at the wrists.
See also OMIM:600962
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01781974K → I in NEPPK. 1 PublicationCorresponds to variant dbSNP:rs57977969EnsemblClinVar.1
Ichthyosis annular epidermolytic (AEI)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:607602
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_017825479I → F in AEI. 2 PublicationsCorresponds to variant dbSNP:rs61218439EnsemblClinVar.1
Keratoderma, palmoplantar, striate 3 (SPPK3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA dermatological disorder characterized by thickening of the stratum corneum and epidermal layers on palms and soles. There is no involvement of non-palmoplantar skin, and both hair and nails are normal.
See also OMIM:607654

Keywords - Diseasei

Disease mutation, Ichthyosis, Palmoplantar keratoderma

Organism-specific databases

DisGeNET

More...
DisGeNETi
3848

MalaCards human disease database

More...
MalaCardsi
KRT1
MIMi113800 phenotype
146590 phenotype
600962 phenotype
607602 phenotype
607654 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000167768

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
281139 Annular epidermolytic ichthyosis
312 Autosomal dominant epidermolytic ichthyosis
281190 Congenital reticular ichthyosiform erythroderma
2199 Epidermolytic palmoplantar keratoderma
79503 Ichthyosis hystrix of Curth-Macklin
50942 Striate palmoplantar keratoderma

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA30199

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
KRT1

Domain mapping of disease mutations (DMDM)

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DMDMi
238054406

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemoved1 Publication
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000637092 – 644Keratin, type II cytoskeletal 1Add BLAST643

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei12Omega-N-methylarginineBy similarity1
Modified residuei18PhosphoserineBy similarity1
Modified residuei21PhosphoserineCombined sources1
Modified residuei45Omega-N-methylarginineBy similarity1
Modified residuei66PhosphoserineCombined sources1
Modified residuei82Omega-N-methylarginine1 Publication1
Modified residuei276N6,N6-dimethyllysine1 Publication1
Modified residuei344PhosphoserineCombined sources1
Modified residuei518Omega-N-methylarginineBy similarity1
Modified residuei588Omega-N-methylarginineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Undergoes deimination of some arginine residues (citrullination).2 Publications

Keywords - PTMi

Citrullination, Methylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
P04264

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P04264

PeptideAtlas

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PeptideAtlasi
P04264

PRoteomics IDEntifications database

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PRIDEi
P04264

ProteomicsDB human proteome resource

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ProteomicsDBi
12658
51694

2D gel databases

REPRODUCTION-2DPAGE

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REPRODUCTION-2DPAGEi
P04264

Two-dimensional polyacrylamide gel electrophoresis database from the Geneva University Hospital

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SWISS-2DPAGEi
P04264

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P04264

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P04264

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
P04264

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

The source of this protein is neonatal foreskin. The 67-kDa type II keratins are expressed in terminally differentiating epidermis.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000167768 Expressed in 114 organ(s), highest expression level in skin of abdomen

CleanEx database of gene expression profiles

More...
CleanExi
HS_KRT1

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P04264 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB002153
HPA017917
HPA062908

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Heterotetramer of two type I and two type II keratins. Heterodimer with KRT10 (PubMed:27595935). Two heterodimers of KRT1 and KRT10 form a heterotetramer (PubMed:27595935). Interacts with ITGB1 in the presence of RACK1 and SRC, and with RACK1 (PubMed:17956333). Interacts with C1QBP; the association represents a cell surface kininogen receptor (PubMed:21544310). Interacts with EPPK1; interaction is dependent of higher-order structure of intermediate filament (PubMed:16923132).4 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
110046, 72 interactors

Protein interaction database and analysis system

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IntActi
P04264, 56 interactors

Molecular INTeraction database

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MINTi
P04264

STRING: functional protein association networks

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STRINGi
9606.ENSP00000252244

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1644
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P04264

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P04264

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini180 – 493IF rodPROSITE-ProRule annotationAdd BLAST314

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni2 – 179HeadAdd BLAST178
Regioni180 – 215Coil 1AAdd BLAST36
Regioni216 – 234Linker 1Add BLAST19
Regioni235 – 326Coil 1BAdd BLAST92
Regioni327 – 350Linker 12Add BLAST24
Regioni351 – 489Coil 2Add BLAST139
Regioni490 – 644TailAdd BLAST155

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi2 – 151Gly/Phe/Ser-richAdd BLAST150
Compositional biasi502 – 641Gly/Ser-richAdd BLAST140

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the intermediate filament family.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IG4R Eukaryota
ENOG410YY6B LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000162175

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000230976

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG013015

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P04264

KEGG Orthology (KO)

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KOi
K07605

Identification of Orthologs from Complete Genome Data

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OMAi
IRMSGEC

Database of Orthologous Groups

More...
OrthoDBi
EOG091G09KR

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P04264

TreeFam database of animal gene trees

More...
TreeFami
TF317854

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR001664 IF
IPR018039 IF_conserved
IPR039008 IF_rod_dom
IPR032449 Keratin_2_1_tail
IPR032444 Keratin_2_head
IPR003054 Keratin_II

The PANTHER Classification System

More...
PANTHERi
PTHR23239 PTHR23239, 2 hits

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00038 Filament, 1 hit
PF16208 Keratin_2_head, 1 hit
PF16210 Keratin_2_tail, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR01276 TYPE2KERATIN

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM01391 Filament, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00226 IF_ROD_1, 1 hit
PS51842 IF_ROD_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

P04264-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSRQFSSRSG YRSGGGFSSG SAGIINYQRR TTSSSTRRSG GGGGRFSSCG
60 70 80 90 100
GGGGSFGAGG GFGSRSLVNL GGSKSISISV ARGGGRGSGF GGGYGGGGFG
110 120 130 140 150
GGGFGGGGFG GGGIGGGGFG GFGSGGGGFG GGGFGGGGYG GGYGPVCPPG
160 170 180 190 200
GIQEVTINQS LLQPLNVEID PEIQKVKSRE REQIKSLNNQ FASFIDKVRF
210 220 230 240 250
LEQQNQVLQT KWELLQQVDT STRTHNLEPY FESFINNLRR RVDQLKSDQS
260 270 280 290 300
RLDSELKNMQ DMVEDYRNKY EDEINKRTNA ENEFVTIKKD VDGAYMTKVD
310 320 330 340 350
LQAKLDNLQQ EIDFLTALYQ AELSQMQTQI SETNVILSMD NNRSLDLDSI
360 370 380 390 400
IAEVKAQYED IAQKSKAEAE SLYQSKYEEL QITAGRHGDS VRNSKIEISE
410 420 430 440 450
LNRVIQRLRS EIDNVKKQIS NLQQSISDAE QRGENALKDA KNKLNDLEDA
460 470 480 490 500
LQQAKEDLAR LLRDYQELMN TKLALDLEIA TYRTLLEGEE SRMSGECAPN
510 520 530 540 550
VSVSVSTSHT TISGGGSRGG GGGGYGSGGS SYGSGGGSYG SGGGGGGGRG
560 570 580 590 600
SYGSGGSSYG SGGGSYGSGG GGGGHGSYGS GSSSGGYRGG SGGGGGGSSG
610 620 630 640
GRGSGGGSSG GSIGGRGSSS GGVKSSGGSS SVKFVSTTYS GVTR
Length:644
Mass (Da):66,039
Last modified:May 26, 2009 - v6
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iCE5DDE97388F5017
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti201L → M in AAA36153 (PubMed:2581964).Curated1
Sequence conflicti206Q → K in AAA36153 (PubMed:2581964).Curated1
Sequence conflicti238L → S in AAA36153 (PubMed:2581964).Curated1
Sequence conflicti344 – 345SL → QF in AAA36153 (PubMed:2581964).Curated2
Sequence conflicti403R → H in BAG36698 (PubMed:14702039).Curated1
Sequence conflicti404V → M in AAA36153 (PubMed:2581964).Curated1
Sequence conflicti447L → M in AAA36153 (PubMed:2581964).Curated1
Sequence conflicti463R → C in AAA36153 (PubMed:2581964).Curated1
Sequence conflicti466Q → H in AAA36153 (PubMed:2581964).Curated1
Sequence conflicti504S → T in AAA36153 (PubMed:2581964).Curated1
Sequence conflicti511 – 512TI → SM in AAA36153 (PubMed:2581964).Curated2
Sequence conflicti564G → S in AAA36153 (PubMed:2581964).Curated1
Sequence conflicti613I → S in AAA36153 (PubMed:2581964).Curated1
Sequence conflicti638T → S in AAA36153 (PubMed:2581964).Curated1

<p>This subsection of the ‘Sequence’ section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement_in_disease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

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.

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01781974K → I in NEPPK. 1 PublicationCorresponds to variant dbSNP:rs57977969EnsemblClinVar.1
Natural variantiVAR_017820155V → D in EHK. 1 PublicationCorresponds to variant dbSNP:rs57959072EnsemblClinVar.1
Natural variantiVAR_003853155V → G in EHK. 1 PublicationCorresponds to variant dbSNP:rs57959072EnsemblClinVar.1
Natural variantiVAR_003854161L → P in EHK. 1 PublicationCorresponds to variant dbSNP:rs57695159EnsemblClinVar.1
Natural variantiVAR_038627176 – 197Missing in palmoplantar keratoderma; and mild ichthyosis largely limited to the flexural areas. Add BLAST22
Natural variantiVAR_003855186S → P in EHK. 1 PublicationCorresponds to variant dbSNP:rs60022878EnsemblClinVar.1
Natural variantiVAR_017821188N → K in EHK. 2 PublicationsCorresponds to variant dbSNP:rs59429455EnsemblClinVar.1
Natural variantiVAR_003856188N → S in EHK. 3 PublicationsCorresponds to variant dbSNP:rs58928370EnsemblClinVar.1
Natural variantiVAR_017822188N → T in EHK; severe. 1 PublicationCorresponds to variant dbSNP:rs58928370EnsemblClinVar.1
Natural variantiVAR_003857193S → P in EHK. 1 PublicationCorresponds to variant dbSNP:rs60937700EnsemblClinVar.1
Natural variantiVAR_017823214L → P in EHK. 1 PublicationCorresponds to variant dbSNP:rs61549035EnsemblClinVar.1
Natural variantiVAR_003858312I → V. 1
Natural variantiVAR_003859330I → T. 1
Natural variantiVAR_017824340D → V in EHK. 1 PublicationCorresponds to variant dbSNP:rs58062863EnsemblClinVar.1
Natural variantiVAR_003860358Y → N2 PublicationsCorresponds to variant dbSNP:rs1050872EnsemblClinVar.1
Natural variantiVAR_038628454A → S. Corresponds to variant dbSNP:rs17678945EnsemblClinVar.1
Natural variantiVAR_038629459 – 466Missing in palmoplantar keratoderma; and mild ichthyosis largely limited to the flexural areas. 8
Natural variantiVAR_071986478E → Q in EHK. 1 PublicationCorresponds to variant dbSNP:rs59089201EnsemblClinVar.1
Natural variantiVAR_017825479I → F in AEI. 2 PublicationsCorresponds to variant dbSNP:rs61218439EnsemblClinVar.1
Natural variantiVAR_017826479I → T in AEI and EHK. 3 PublicationsCorresponds to variant dbSNP:rs57837128EnsemblClinVar.1
Natural variantiVAR_017827482Y → C in EHK. 1 PublicationCorresponds to variant dbSNP:rs58420087EnsemblClinVar.1
Natural variantiVAR_071987485L → P in EHK. 1 PublicationCorresponds to variant dbSNP:rs267607430EnsemblClinVar.1
Natural variantiVAR_017828486L → P in EHK. 2 PublicationsCorresponds to variant dbSNP:rs56914602EnsemblClinVar.1
Natural variantiVAR_071988490E → K in EHK. 1 PublicationCorresponds to variant dbSNP:rs60279707EnsemblClinVar.1
Natural variantiVAR_003861490E → Q in EHK. 1 PublicationCorresponds to variant dbSNP:rs60279707EnsemblClinVar.1
Natural variantiVAR_003862537G → C1 Publication1
Natural variantiVAR_003864560 – 566Missing in allele 1B. 1 Publication7
Natural variantiVAR_003863633K → R5 PublicationsCorresponds to variant dbSNP:rs14024EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
M98776 Genomic DNA Translation: AAB47721.1
AF237621 Genomic DNA Translation: AAF60327.1
AF304164 Genomic DNA Translation: AAG41947.1
AK313986 mRNA Translation: BAG36698.1
AC055716 Genomic DNA No translation available.
BC063697 mRNA Translation: AAH63697.1
M10938 mRNA Translation: AAA36153.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS8836.1

Protein sequence database of the Protein Information Resource

More...
PIRi
A22940 KRHU2

NCBI Reference Sequences

More...
RefSeqi
NP_006112.3, NM_006121.3

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.80828

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000252244; ENSP00000252244; ENSG00000167768

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
3848

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:3848

UCSC genome browser

More...
UCSCi
uc001sau.1 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Human Intermediate Filament Mutation Database
Wikipedia

Keratin-1 entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M98776 Genomic DNA Translation: AAB47721.1
AF237621 Genomic DNA Translation: AAF60327.1
AF304164 Genomic DNA Translation: AAG41947.1
AK313986 mRNA Translation: BAG36698.1
AC055716 Genomic DNA No translation available.
BC063697 mRNA Translation: AAH63697.1
M10938 mRNA Translation: AAA36153.1
CCDSiCCDS8836.1
PIRiA22940 KRHU2
RefSeqiNP_006112.3, NM_006121.3
UniGeneiHs.80828

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4ZRYX-ray3.30B370-489[»]
ProteinModelPortaliP04264
SMRiP04264
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110046, 72 interactors
IntActiP04264, 56 interactors
MINTiP04264
STRINGi9606.ENSP00000252244

PTM databases

iPTMnetiP04264
PhosphoSitePlusiP04264
SwissPalmiP04264

Polymorphism and mutation databases

BioMutaiKRT1
DMDMi238054406

2D gel databases

REPRODUCTION-2DPAGEiP04264
SWISS-2DPAGEiP04264

Proteomic databases

EPDiP04264
PaxDbiP04264
PeptideAtlasiP04264
PRIDEiP04264
ProteomicsDBi12658
51694

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000252244; ENSP00000252244; ENSG00000167768
GeneIDi3848
KEGGihsa:3848
UCSCiuc001sau.1 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
3848
DisGeNETi3848
EuPathDBiHostDB:ENSG00000167768.4

GeneCards: human genes, protein and diseases

More...
GeneCardsi
KRT1

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0036813
HGNCiHGNC:6412 KRT1
HPAiCAB002153
HPA017917
HPA062908
MalaCardsiKRT1
MIMi113800 phenotype
139350 gene
146590 phenotype
600962 phenotype
607602 phenotype
607654 phenotype
neXtProtiNX_P04264
OpenTargetsiENSG00000167768
Orphaneti281139 Annular epidermolytic ichthyosis
312 Autosomal dominant epidermolytic ichthyosis
281190 Congenital reticular ichthyosiform erythroderma
2199 Epidermolytic palmoplantar keratoderma
79503 Ichthyosis hystrix of Curth-Macklin
50942 Striate palmoplantar keratoderma
PharmGKBiPA30199

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IG4R Eukaryota
ENOG410YY6B LUCA
GeneTreeiENSGT00940000162175
HOGENOMiHOG000230976
HOVERGENiHBG013015
InParanoidiP04264
KOiK07605
OMAiIRMSGEC
OrthoDBiEOG091G09KR
PhylomeDBiP04264
TreeFamiTF317854

Enzyme and pathway databases

ReactomeiR-HSA-6798695 Neutrophil degranulation
R-HSA-6805567 Keratinization
R-HSA-6809371 Formation of the cornified envelope
SIGNORiP04264

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
KRT1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Keratin_1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
3848

Protein Ontology

More...
PROi
PR:P04264

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000167768 Expressed in 114 organ(s), highest expression level in skin of abdomen
CleanExiHS_KRT1
GenevisibleiP04264 HS

Family and domain databases

InterProiView protein in InterPro
IPR001664 IF
IPR018039 IF_conserved
IPR039008 IF_rod_dom
IPR032449 Keratin_2_1_tail
IPR032444 Keratin_2_head
IPR003054 Keratin_II
PANTHERiPTHR23239 PTHR23239, 2 hits
PfamiView protein in Pfam
PF00038 Filament, 1 hit
PF16208 Keratin_2_head, 1 hit
PF16210 Keratin_2_tail, 1 hit
PRINTSiPR01276 TYPE2KERATIN
SMARTiView protein in SMART
SM01391 Filament, 1 hit
PROSITEiView protein in PROSITE
PS00226 IF_ROD_1, 1 hit
PS51842 IF_ROD_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiK2C1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P04264
Secondary accession number(s): B2RA01
, P85925, P86104, Q14720, Q6GSJ0, Q9H298
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 20, 1987
Last sequence update: May 26, 2009
Last modified: December 5, 2018
This is version 222 of the entry and version 6 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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