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UniProtKB - P78385 (KRT83_HUMAN)

Entry version 168 (02 Dec 2020)
Sequence version 2 (16 Dec 2008)
Previous versions | rss
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Protein

Keratin, type II cuticular Hb3

Gene

KRT83

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

Miscellaneous

There are two types of hair/microfibrillar keratin, I (acidic) and II (neutral to basic).

<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 - Biological processi

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P78385

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-6805567, Keratinization
R-HSA-6809371, Formation of the cornified envelope

<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%5Fand%5Ftaxonomy%5Fsection">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 cuticular Hb3
Alternative name(s):
Hair keratin K2.10
Keratin-83
Short name:
K83
Type II hair keratin Hb3
Type-II keratin Kb23
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:KRT83
Synonyms:KRTHB3
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000170523.3

Human Gene Nomenclature Database

More...HGNCi		HGNC:6460, KRT83

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		602765, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P78385

<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 & Seán O’Donoghue; 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

Intermediate filament, Keratin

<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

Monilethrix (MNLIX)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder clinically characterized by alopecia and follicular papules. Affected hairs have uniform elliptical nodes of normal thickness and intermittent constrictions, internodes at which the hair easily breaks. Usually only the scalp is involved, but in severe forms, the secondary sexual hair, eyebrows, eyelashes, and nails may also be affected.
Related information in OMIM
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_023052407E → K in MNLIX. 2 PublicationsCorresponds to variant dbSNP:rs57802288EnsemblClinVar.1
Natural variantiVAR_073049418E → K in MNLIX. 1 PublicationCorresponds to variant dbSNP:rs1438087533EnsemblClinVar.1
Erythrokeratodermia variabilis et progressiva 5 (EKVP5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. EKVP5 inheritance is autosomal recessive.
Related information in OMIM

Keywords - Diseasei

Disease mutation, Palmoplantar keratoderma

Organism-specific databases

DisGeNET

More...DisGeNETi		3889

MalaCards human disease database

More...MalaCardsi		KRT83
MIMi158000, phenotype
617756, phenotype

Open Targets

More...OpenTargetsi		ENSG00000170523

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

More...Orphaneti		573, Monilethrix
316, Progressive symmetric erythrokeratodermia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA30249

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P78385, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		KRT83

Domain mapping of disease mutations (DMDM)

More...DMDMi		218511666

<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 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000636991 – 493Keratin, type II cuticular Hb3Add BLAST493

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki217Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)By similarity

Keywords - PTMi

Isopeptide bond, Ubl conjugation

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P78385

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P78385

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

More...PaxDbi		P78385

PeptideAtlas

More...PeptideAtlasi		P78385

PRoteomics IDEntifications database

More...PRIDEi		P78385

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		12674
57609

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P78385

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

More...PhosphoSitePlusi		P78385

SwissPalm database of S-palmitoylation events

More...SwissPalmi		P78385

<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

Synthesis begins in the cortex 10-15 cell layers above the apex of the dermal papilla and ends abruptly in the middle of the cortex.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000170523, Expressed in hair follicle and 71 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P78385, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000170523, Tissue enriched (skin)

<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%5Fsection">'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%5Fsection">'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.

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details
P78385
With#Exp.IntAct
ADAM12 - isoform 4 [O43184-4]3EBI-10221390,EBI-12006944
ANKS1A [Q49AR9]3EBI-10221390,EBI-11954519
C11orf87 [Q6NUJ2]3EBI-10221390,EBI-6660291
CEP57 - isoform 3 [Q86XR8-3]3EBI-10221390,EBI-11752486
CREB5 - isoform 3 [Q02930-3]3EBI-10221390,EBI-10192698
CYSRT1 [A8MQ03]3EBI-10221390,EBI-3867333
GEM [P55040]3EBI-10221390,EBI-744104
GNE - isoform 2 [Q9Y223-2]3EBI-10221390,EBI-11975289
GSTP1 [P09211]3EBI-10221390,EBI-353467
HOXA1 [P49639]8EBI-10221390,EBI-740785
KRT15 [P19012]3EBI-10221390,EBI-739566
KRT16 [P08779]3EBI-10221390,EBI-356410
KRT19 [P08727]3EBI-10221390,EBI-742756
KRT25 [Q7Z3Z0]3EBI-10221390,EBI-11980019
KRT27 [Q7Z3Y8]3EBI-10221390,EBI-3044087
KRT31 [Q15323]6EBI-10221390,EBI-948001
KRT33B [Q14525]3EBI-10221390,EBI-1049638
KRT34 [O76011]3EBI-10221390,EBI-1047093
KRT35 [Q92764]3EBI-10221390,EBI-1058674
KRT37 [O76014]3EBI-10221390,EBI-1045716
KRT38 [O76015]8EBI-10221390,EBI-1047263
KRT39 [Q6A163]3EBI-10221390,EBI-11958242
KRT40 [Q6A162]3EBI-10221390,EBI-10171697
KRTAP10-7 [P60409]3EBI-10221390,EBI-10172290
KRTAP10-8 [P60410]3EBI-10221390,EBI-10171774
KRTAP10-9 [P60411]3EBI-10221390,EBI-10172052
KRTAP11-1 [Q8IUC1]3EBI-10221390,EBI-1052037
KRTAP13-3 [Q3SY46]3EBI-10221390,EBI-10241252
KRTAP3-3 [Q9BYR6]5EBI-10221390,EBI-3957694
KRTAP6-2 [Q3LI66]3EBI-10221390,EBI-11962084
MEOX2 [Q6FHY5]3EBI-10221390,EBI-16439278
NOTCH2NLA [Q7Z3S9]3EBI-10221390,EBI-945833
NOTCH2NLC [P0DPK4]3EBI-10221390,EBI-22310682
NRF1 - isoform 4 [Q16656-4]3EBI-10221390,EBI-11742836
OIP5 [O43482]3EBI-10221390,EBI-536879
OTX1 [P32242]3EBI-10221390,EBI-740446
PITX1 [P78337]3EBI-10221390,EBI-748265
PLEKHN1 - isoform 3 [Q494U1-3]3EBI-10221390,EBI-12014286
POU4F2 [Q12837]3EBI-10221390,EBI-17236143
ZDHHC1 [Q8WTX9]3EBI-10221390,EBI-2818796

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		110087, 44 interactors

Protein interaction database and analysis system

More...IntActi		P78385, 42 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000293670

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P78385, protein

<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

3D structure databases

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

More...SMRi		P78385

Database of comparative protein structure models

More...ModBasei		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%5Fand%5Fdomains%5Fsection">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>Domaini111 – 422IF rodPROSITE-ProRule annotationAdd BLAST312

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>Regioni1 – 111HeadAdd BLAST111
Regioni112 – 146Coil 1AAdd BLAST35
Regioni147 – 156Linker 110
Regioni157 – 257Coil 1BAdd BLAST101
Regioni258 – 274Linker 12Add BLAST17
Regioni275 – 418Coil 2Add BLAST144
Regioni419 – 493TailAdd BLAST75

<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		ENOG502SKJW, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000161838

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_012560_5_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P78385

Identification of Orthologs from Complete Genome Data

More...OMAi		CGCGFRP

Database of Orthologous Groups

More...OrthoDBi		557821at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P78385

TreeFam database of animal gene trees

More...TreeFami		TF317854

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.20.5.1160, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR009030, Growth_fac_rcpt_cys_sf
IPR018039, IF_conserved
IPR039008, IF_rod_dom
IPR042180, IF_rod_dom_coil1B
IPR032444, Keratin_2_head
IPR003054, Keratin_II

Pfam protein domain database

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

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF57184, SSF57184, 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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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.

P78385-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MTCGFNSIGC GFRPGNFSCV SACGPRPSRC CITAAPYRGI SCYRGLTGGF 
        60         70         80         90        100
GSHSVCGGFR AGSCGRSFGY RSGGVCGPSP PCITTVSVNE SLLTPLNLEI 
       110        120        130        140        150
DPNAQCVKQE EKEQIKSLNS RFAAFIDKVR FLEQQNKLLE TKLQFYQNRE 
       160        170        180        190        200
CCQSNLEPLF AGYIETLRRE AECVEADSGR LASELNHVQE VLEGYKKKYE 
       210        220        230        240        250
EEVALRATAE NEFVALKKDV DCAYLRKSDL EANVEALIQE IDFLRRLYEE 
       260        270        280        290        300
EIRILQSHIS DTSVVVKLDN SRDLNMDCIV AEIKAQYDDI ATRSRAEAES 
       310        320        330        340        350
WYRSKCEEMK ATVIRHGETL RRTKEEINEL NRMIQRLTAE VENAKCQNSK 
       360        370        380        390        400
LEAAVAQSEQ QGEAALSDAR CKLAELEGAL QKAKQDMACL IREYQEVMNS 
       410        420        430        440        450
KLGLDIEIAT YRRLLEGEEQ RLCEGVEAVN VCVSSSRGGV VCGDLCVSGS 
       460        470        480        490 
RPVTGSVCSA PCNGNLVVST GLCKPCGQLN TTCGGGSCGQ GRH
Length:493
Mass (Da):54,195
Last modified:December 16, 2008 - v2
<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:i73BE2DA2C93F3EB6
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 conflicti67S → D in CAA67578 (PubMed:9084137).Curated1
Sequence conflicti314I → V in BAG37418 (PubMed:14702039).Curated1
Sequence conflicti473C → R in BAG37418 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_018119149R → C2 PublicationsCorresponds to variant dbSNP:rs2857663EnsemblClinVar.1
Natural variantiVAR_018120279I → M2 PublicationsCorresponds to variant dbSNP:rs2852464EnsemblClinVar.1
Natural variantiVAR_023052407E → K in MNLIX. 2 PublicationsCorresponds to variant dbSNP:rs57802288EnsemblClinVar.1
Natural variantiVAR_073049418E → K in MNLIX. 1 PublicationCorresponds to variant dbSNP:rs1438087533EnsemblClinVar.1
Natural variantiVAR_018121493H → Y3 PublicationsCorresponds to variant dbSNP:rs2857671EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
X99141 mRNA Translation: CAA67578.1
Y19208 Genomic DNA Translation: CAB76828.1
AK314904 mRNA Translation: BAG37418.1
BC069546 mRNA Translation: AAH69546.1
BC128063 mRNA Translation: AAI28064.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS8823.1

NCBI Reference Sequences

More...RefSeqi		NP_002273.3, NM_002282.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000293670; ENSP00000293670; ENSG00000170523

Database of genes from NCBI RefSeq genomes

More...GeneIDi		3889

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:3889

UCSC genome browser

More...UCSCi		uc001saf.2, 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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X99141 mRNA Translation: CAA67578.1
Y19208 Genomic DNA Translation: CAB76828.1
AK314904 mRNA Translation: BAG37418.1
BC069546 mRNA Translation: AAH69546.1
BC128063 mRNA Translation: AAI28064.1
CCDSiCCDS8823.1
RefSeqiNP_002273.3, NM_002282.3

3D structure databases

SMRiP78385
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi110087, 44 interactors
IntActiP78385, 42 interactors
STRINGi9606.ENSP00000293670

PTM databases

iPTMnetiP78385
PhosphoSitePlusiP78385
SwissPalmiP78385

Polymorphism and mutation databases

BioMutaiKRT83
DMDMi218511666

Proteomic databases

jPOSTiP78385
MassIVEiP78385
PaxDbiP78385
PeptideAtlasiP78385
PRIDEiP78385
ProteomicsDBi12674
57609

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		26572, 62 antibodies

Genome annotation databases

EnsembliENST00000293670; ENSP00000293670; ENSG00000170523
GeneIDi3889
KEGGihsa:3889
UCSCiuc001saf.2, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		3889
DisGeNETi3889
EuPathDBiHostDB:ENSG00000170523.3

GeneCards: human genes, protein and diseases

More...GeneCardsi		KRT83
HGNCiHGNC:6460, KRT83
HPAiENSG00000170523, Tissue enriched (skin)
MalaCardsiKRT83
MIMi158000, phenotype
602765, gene
617756, phenotype
neXtProtiNX_P78385
OpenTargetsiENSG00000170523
Orphaneti573, Monilethrix
316, Progressive symmetric erythrokeratodermia
PharmGKBiPA30249

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502SKJW, Eukaryota
GeneTreeiENSGT00940000161838
HOGENOMiCLU_012560_5_0_1
InParanoidiP78385
OMAiCGCGFRP
OrthoDBi557821at2759
PhylomeDBiP78385
TreeFamiTF317854

Enzyme and pathway databases

PathwayCommonsiP78385
ReactomeiR-HSA-6805567, Keratinization
R-HSA-6809371, Formation of the cornified envelope

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		3889, 15 hits in 835 CRISPR screens

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

More...ChiTaRSi		KRT83, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		KRT83

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

More...GenomeRNAii		3889
PharosiP78385, Tbio

Protein Ontology

More...PROi		PR:P78385
RNActiP78385, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000170523, Expressed in hair follicle and 71 other tissues
GenevisibleiP78385, HS

Family and domain databases

Gene3Di1.20.5.1160, 1 hit
InterProiView protein in InterPro
IPR009030, Growth_fac_rcpt_cys_sf
IPR018039, IF_conserved
IPR039008, IF_rod_dom
IPR042180, IF_rod_dom_coil1B
IPR032444, Keratin_2_head
IPR003054, Keratin_II
PfamiView protein in Pfam
PF00038, Filament, 1 hit
PF16208, Keratin_2_head, 1 hit
PRINTSiPR01276, TYPE2KERATIN
SMARTiView protein in SMART
SM01391, Filament, 1 hit
SUPFAMiSSF57184, SSF57184, 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...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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 nameiKRT83_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: P78385
Secondary accession number(s): A1A4S9
, B2RC21, Q6NT21, Q9NSB3
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 29, 2004
Last sequence update: December 16, 2008
Last modified: December 2, 2020
This is version 168 of the entry and version 2 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

Reference proteome

Documents

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