UniProtKB - P78385 (KRT83_HUMAN)
Protein
Keratin, type II cuticular Hb3
Gene
KRT83
Organism
Homo sapiens (Human)
Status
Functioni
Miscellaneous
There are two types of hair/microfibrillar keratin, I (acidic) and II (neutral to basic).
GO - Biological processi
- aging Source: UniProtKB
- cornification Source: Reactome
- epidermis development Source: ProtInc
- hair cycle Source: UniProtKB
- keratinization Source: Reactome
Enzyme and pathway databases
PathwayCommonsi | P78385 |
Reactomei | R-HSA-6805567, Keratinization R-HSA-6809371, Formation of the cornified envelope |
Names & Taxonomyi
Protein namesi | Recommended name: Keratin, type II cuticular Hb3Alternative name(s): Hair keratin K2.10 Keratin-83 Short name: K83 Type II hair keratin Hb3 Type-II keratin Kb23 |
Gene namesi | Name:KRT83 Synonyms:KRTHB3 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:6460, KRT83 |
MIMi | 602765, gene |
neXtProti | NX_P78385 |
VEuPathDBi | HostDB:ENSG00000170523.3 |
Subcellular locationi
Cytoskeleton
- keratin filament Source: InterPro
Cytosol
- cytosol Source: Reactome
Extracellular region or secreted
- extracellular space Source: UniProtKB
Keywords - Cellular componenti
Intermediate filament, KeratinPathology & Biotechi
Involvement in diseasei
Monilethrix (MNLIX)2 Publications
The disease is caused by variants 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 OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_023052 | 407 | E → K in MNLIX. 2 PublicationsCorresponds to variant dbSNP:rs57802288EnsemblClinVar. | 1 | |
Natural variantiVAR_073049 | 418 | E → K in MNLIX. 1 PublicationCorresponds to variant dbSNP:rs1438087533EnsemblClinVar. | 1 |
Erythrokeratodermia variabilis et progressiva 5 (EKVP5)1 Publication
The disease is caused by variants 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 OMIMKeywords - Diseasei
Disease variant, Palmoplantar keratodermaOrganism-specific databases
DisGeNETi | 3889 |
MalaCardsi | KRT83 |
MIMi | 158000, phenotype 617756, phenotype |
OpenTargetsi | ENSG00000170523 |
Orphaneti | 573, Monilethrix 316, Progressive symmetric erythrokeratodermia |
PharmGKBi | PA30249 |
Miscellaneous databases
Pharosi | P78385, Tbio |
Genetic variation databases
BioMutai | KRT83 |
DMDMi | 218511666 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000063699 | 1 – 493 | Keratin, type II cuticular Hb3Add BLAST | 493 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Cross-linki | 217 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)By similarity |
Keywords - PTMi
Isopeptide bond, Ubl conjugationProteomic databases
jPOSTi | P78385 |
MassIVEi | P78385 |
PaxDbi | P78385 |
PeptideAtlasi | P78385 |
PRIDEi | P78385 |
ProteomicsDBi | 12674 57609 |
PTM databases
iPTMneti | P78385 |
PhosphoSitePlusi | P78385 |
SwissPalmi | P78385 |
Expressioni
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
Bgeei | ENSG00000170523, Expressed in hair follicle and 71 other tissues |
Genevisiblei | P78385, HS |
Organism-specific databases
HPAi | ENSG00000170523, Tissue enriched (skin) |
Interactioni
Subunit structurei
Heterotetramer of two type I and two type II keratins.
Binary interactionsi
Hide detailsP78385
Protein-protein interaction databases
BioGRIDi | 110087, 44 interactors |
IntActi | P78385, 42 interactors |
STRINGi | 9606.ENSP00000293670 |
Miscellaneous databases
RNActi | P78385, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 111 – 422 | IF rodPROSITE-ProRule annotationAdd BLAST | 312 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 111 | HeadAdd BLAST | 111 | |
Regioni | 112 – 146 | Coil 1AAdd BLAST | 35 | |
Regioni | 147 – 156 | Linker 1 | 10 | |
Regioni | 157 – 257 | Coil 1BAdd BLAST | 101 | |
Regioni | 258 – 274 | Linker 12Add BLAST | 17 | |
Regioni | 275 – 418 | Coil 2Add BLAST | 144 | |
Regioni | 419 – 493 | TailAdd BLAST | 75 |
Sequence similaritiesi
Belongs to the intermediate filament family.PROSITE-ProRule annotation
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | ENOG502SKJW, Eukaryota |
GeneTreei | ENSGT00940000161838 |
HOGENOMi | CLU_012560_5_0_1 |
InParanoidi | P78385 |
OMAi | CGCGFRP |
OrthoDBi | 557821at2759 |
PhylomeDBi | P78385 |
TreeFami | TF317854 |
Family and domain databases
Gene3Di | 1.20.5.1160, 1 hit |
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 |
Pfami | View protein in Pfam PF00038, Filament, 1 hit PF16208, Keratin_2_head, 1 hit |
PRINTSi | PR01276, TYPE2KERATIN |
SMARTi | View protein in SMART SM01391, Filament, 1 hit |
SUPFAMi | SSF57184, SSF57184, 1 hit |
PROSITEi | View protein in PROSITE PS00226, IF_ROD_1, 1 hit PS51842, IF_ROD_2, 1 hit |
i Sequence
Sequence statusi: Complete.
P78385-1 [UniParc]FASTAAdd to basket
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
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 67 | S → D in CAA67578 (PubMed:9084137).Curated | 1 | |
Sequence conflicti | 314 | I → V in BAG37418 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 473 | C → R in BAG37418 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_018119 | 149 | R → C2 PublicationsCorresponds to variant dbSNP:rs2857663EnsemblClinVar. | 1 | |
Natural variantiVAR_018120 | 279 | I → M2 PublicationsCorresponds to variant dbSNP:rs2852464EnsemblClinVar. | 1 | |
Natural variantiVAR_023052 | 407 | E → K in MNLIX. 2 PublicationsCorresponds to variant dbSNP:rs57802288EnsemblClinVar. | 1 | |
Natural variantiVAR_073049 | 418 | E → K in MNLIX. 1 PublicationCorresponds to variant dbSNP:rs1438087533EnsemblClinVar. | 1 | |
Natural variantiVAR_018121 | 493 | H → Y3 PublicationsCorresponds to variant dbSNP:rs2857671EnsemblClinVar. | 1 |
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 |
CCDSi | CCDS8823.1 |
RefSeqi | NP_002273.3, NM_002282.3 |
Genome annotation databases
Ensembli | ENST00000293670; ENSP00000293670; ENSG00000170523 |
GeneIDi | 3889 |
KEGGi | hsa:3889 |
UCSCi | uc001saf.2, human |
Similar proteinsi
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 |
CCDSi | CCDS8823.1 |
RefSeqi | NP_002273.3, NM_002282.3 |
3D structure databases
SMRi | P78385 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 110087, 44 interactors |
IntActi | P78385, 42 interactors |
STRINGi | 9606.ENSP00000293670 |
PTM databases
iPTMneti | P78385 |
PhosphoSitePlusi | P78385 |
SwissPalmi | P78385 |
Genetic variation databases
BioMutai | KRT83 |
DMDMi | 218511666 |
Proteomic databases
jPOSTi | P78385 |
MassIVEi | P78385 |
PaxDbi | P78385 |
PeptideAtlasi | P78385 |
PRIDEi | P78385 |
ProteomicsDBi | 12674 57609 |
Protocols and materials databases
Antibodypediai | 26572, 62 antibodies |
Genome annotation databases
Ensembli | ENST00000293670; ENSP00000293670; ENSG00000170523 |
GeneIDi | 3889 |
KEGGi | hsa:3889 |
UCSCi | uc001saf.2, human |
Organism-specific databases
CTDi | 3889 |
DisGeNETi | 3889 |
GeneCardsi | KRT83 |
HGNCi | HGNC:6460, KRT83 |
HPAi | ENSG00000170523, Tissue enriched (skin) |
MalaCardsi | KRT83 |
MIMi | 158000, phenotype 602765, gene 617756, phenotype |
neXtProti | NX_P78385 |
OpenTargetsi | ENSG00000170523 |
Orphaneti | 573, Monilethrix 316, Progressive symmetric erythrokeratodermia |
PharmGKBi | PA30249 |
VEuPathDBi | HostDB:ENSG00000170523.3 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502SKJW, Eukaryota |
GeneTreei | ENSGT00940000161838 |
HOGENOMi | CLU_012560_5_0_1 |
InParanoidi | P78385 |
OMAi | CGCGFRP |
OrthoDBi | 557821at2759 |
PhylomeDBi | P78385 |
TreeFami | TF317854 |
Enzyme and pathway databases
PathwayCommonsi | P78385 |
Reactomei | R-HSA-6805567, Keratinization R-HSA-6809371, Formation of the cornified envelope |
Miscellaneous databases
BioGRID-ORCSi | 3889, 16 hits in 864 CRISPR screens |
ChiTaRSi | KRT83, human |
GeneWikii | KRT83 |
GenomeRNAii | 3889 |
Pharosi | P78385, Tbio |
PROi | PR:P78385 |
RNActi | P78385, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000170523, Expressed in hair follicle and 71 other tissues |
Genevisiblei | P78385, HS |
Family and domain databases
Gene3Di | 1.20.5.1160, 1 hit |
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 |
Pfami | View protein in Pfam PF00038, Filament, 1 hit PF16208, Keratin_2_head, 1 hit |
PRINTSi | PR01276, TYPE2KERATIN |
SMARTi | View protein in SMART SM01391, Filament, 1 hit |
SUPFAMi | SSF57184, SSF57184, 1 hit |
PROSITEi | View protein in PROSITE PS00226, IF_ROD_1, 1 hit PS51842, IF_ROD_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | KRT83_HUMAN | |
Accessioni | P78385Primary (citable) accession number: P78385 Secondary accession number(s): A1A4S9 Q9NSB3 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 29, 2004 |
Last sequence update: | December 16, 2008 | |
Last modified: | February 10, 2021 | |
This is version 169 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 12
Human chromosome 12: entries, gene names and cross-references to MIM - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human entries with genetic variants
List of human entries with genetic variants