UniProtKB - O43790 (KRT86_HUMAN)
Protein
Keratin, type II cuticular Hb6
Gene
KRT86
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
- cornification Source: Reactome
- keratinization Source: Reactome
Enzyme and pathway databases
PathwayCommonsi | O43790 |
Reactomei | R-HSA-6805567, Keratinization R-HSA-6809371, Formation of the cornified envelope |
Names & Taxonomyi
Protein namesi | Recommended name: Keratin, type II cuticular Hb6Alternative name(s): Hair keratin K2.11 Keratin-86 Short name: K86 Type II hair keratin Hb6 Type-II keratin Kb26 |
Gene namesi | Name:KRT86 Synonyms:KRTHB6 |
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:6463, KRT86 |
MIMi | 601928, gene |
neXtProti | NX_O43790 |
VEuPathDBi | HostDB:ENSG00000170442.11 |
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)5 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_018125 | 114 | N → D in MNLIX. 2 PublicationsCorresponds to variant dbSNP:rs61091894EnsemblClinVar. | 1 | |
Natural variantiVAR_023053 | 114 | N → H in MNLIX. 1 PublicationCorresponds to variant dbSNP:rs61091894EnsemblClinVar. | 1 | |
Natural variantiVAR_018127 | 402 | E → K in MNLIX. 2 PublicationsCorresponds to variant dbSNP:rs60687604EnsemblClinVar. | 1 | |
Natural variantiVAR_018126 | 402 | E → Q in MNLIX. 1 PublicationCorresponds to variant dbSNP:rs60687604EnsemblClinVar. | 1 | |
Natural variantiVAR_073050 | 409 | L → P in MNLIX. 1 Publication | 1 | |
Natural variantiVAR_073051 | 410 | L → P in MNLIX. 1 Publication | 1 | |
Natural variantiVAR_018129 | 413 | E → D in MNLIX. 1 PublicationCorresponds to variant dbSNP:rs121909130EnsemblClinVar. | 1 | |
Natural variantiVAR_018128 | 413 | E → K in MNLIX. 2 PublicationsCorresponds to variant dbSNP:rs121909129EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 3892 |
MalaCardsi | KRT86 |
MIMi | 158000, phenotype |
OpenTargetsi | ENSG00000170442 |
Orphaneti | 573, Monilethrix |
PharmGKBi | PA30252 |
Miscellaneous databases
Pharosi | O43790, Tbio |
Genetic variation databases
BioMutai | KRT86 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000063704 | 1 – 486 | Keratin, type II cuticular Hb6Add BLAST | 486 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Cross-linki | 212 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)By similarity |
Keywords - PTMi
Isopeptide bond, Ubl conjugationProteomic databases
jPOSTi | O43790 |
MassIVEi | O43790 |
PaxDbi | O43790 |
PeptideAtlasi | O43790 |
PRIDEi | O43790 |
ProteomicsDBi | 12677 49170 |
PTM databases
iPTMneti | O43790 |
PhosphoSitePlusi | O43790 |
SwissPalmi | O43790 |
Expressioni
Tissue specificityi
Synthesis begins slightly higher in the hair shaft than HB1 and HB3 and continues much farther up, ending in the keratogeneous zone.1 Publication
Gene expression databases
Bgeei | ENSG00000170442, Expressed in sperm and 114 other tissues |
ExpressionAtlasi | O43790, baseline and differential |
Genevisiblei | O43790, HS |
Organism-specific databases
HPAi | ENSG00000170442, Group enriched (blood, skin, testis) |
Interactioni
Subunit structurei
Heterotetramer of two type I and two type II keratins.
Binary interactionsi
Hide detailsO43790
Protein-protein interaction databases
BioGRIDi | 110090, 52 interactors |
ComplexPortali | CPX-5663, Keratin-36 - Keratin-86 dimer complex |
IntActi | O43790, 46 interactors |
STRINGi | 9606.ENSP00000444533 |
Miscellaneous databases
RNActi | O43790, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 106 – 417 | IF rodPROSITE-ProRule annotationAdd BLAST | 312 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 106 | HeadAdd BLAST | 106 | |
Regioni | 107 – 141 | Coil 1AAdd BLAST | 35 | |
Regioni | 142 – 151 | Linker 1 | 10 | |
Regioni | 152 – 252 | Coil 1BAdd BLAST | 101 | |
Regioni | 253 – 269 | Linker 12Add BLAST | 17 | |
Regioni | 270 – 413 | Coil 2Add BLAST | 144 | |
Regioni | 414 – 486 | TailAdd BLAST | 73 |
Sequence similaritiesi
Belongs to the intermediate filament family.PROSITE-ProRule annotation
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | ENOG502RTZU, Eukaryota |
GeneTreei | ENSGT00940000161838 |
HOGENOMi | CLU_012560_5_0_1 |
InParanoidi | O43790 |
OMAi | CQNCKLE |
OrthoDBi | 557821at2759 |
PhylomeDBi | O43790 |
TreeFami | TF317854 |
Family and domain databases
Gene3Di | 1.20.5.1160, 1 hit |
InterProi | View protein in InterPro 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 |
PROSITEi | View protein in PROSITE PS00226, IF_ROD_1, 1 hit PS51842, IF_ROD_2, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
O43790-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MTCGSYCGGR AFSCISACGP RPGRCCITAA PYRGISCYRG LTGGFGSHSV
60 70 80 90 100
CGGFRAGSCG RSFGYRSGGV CGPSPPCITT VSVNESLLTP LNLEIDPNAQ
110 120 130 140 150
CVKQEEKEQI KSLNSRFAAF IDKVRFLEQQ NKLLETKLQF YQNRECCQSN
160 170 180 190 200
LEPLFEGYIE TLRREAECVE ADSGRLASEL NHVQEVLEGY KKKYEEEVSL
210 220 230 240 250
RATAENEFVA LKKDVDCAYL RKSDLEANVE ALIQEIDFLR RLYEEEIRVL
260 270 280 290 300
QSHISDTSVV VKLDNSRDLN MDCIIAEIKA QYDDIVTRSR AEAESWYRSK
310 320 330 340 350
CEEMKATVIR HGETLRRTKE EINELNRMIQ RLTAEVENAK CQNSKLEAAV
360 370 380 390 400
AQSEQQGEAA LSDARCKLAE LEGALQKAKQ DMACLIREYQ EVMNSKLGLD
410 420 430 440 450
IEIATYRRLL EGEEQRLCEG VGSVNVCVSS SRGGVVCGDL CASTTAPVVS
460 470 480
TRVSSVPSNS NVVVGTTNAC APSARVGVCG GSCKRC
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketU3KPR1 | U3KPR1_HUMAN | Keratin, type II cuticular Hb6 | KRT86 | 143 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 62 | S → D in CAA67579 (PubMed:9084137).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_018125 | 114 | N → D in MNLIX. 2 PublicationsCorresponds to variant dbSNP:rs61091894EnsemblClinVar. | 1 | |
Natural variantiVAR_023053 | 114 | N → H in MNLIX. 1 PublicationCorresponds to variant dbSNP:rs61091894EnsemblClinVar. | 1 | |
Natural variantiVAR_018127 | 402 | E → K in MNLIX. 2 PublicationsCorresponds to variant dbSNP:rs60687604EnsemblClinVar. | 1 | |
Natural variantiVAR_018126 | 402 | E → Q in MNLIX. 1 PublicationCorresponds to variant dbSNP:rs60687604EnsemblClinVar. | 1 | |
Natural variantiVAR_073050 | 409 | L → P in MNLIX. 1 Publication | 1 | |
Natural variantiVAR_073051 | 410 | L → P in MNLIX. 1 Publication | 1 | |
Natural variantiVAR_018129 | 413 | E → D in MNLIX. 1 PublicationCorresponds to variant dbSNP:rs121909130EnsemblClinVar. | 1 | |
Natural variantiVAR_018128 | 413 | E → K in MNLIX. 2 PublicationsCorresponds to variant dbSNP:rs121909129EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ000263 Genomic DNA Translation: CAA03979.1 BC069585 mRNA Translation: AAH69585.1 X99142 mRNA Translation: CAA67579.1 |
CCDSi | CCDS41785.1 |
RefSeqi | NP_001307127.1, NM_001320198.1 XP_016874785.1, XM_017019296.1 |
Genome annotation databases
Ensembli | ENST00000293525; ENSP00000293525; ENSG00000170442 ENST00000423955; ENSP00000444533; ENSG00000170442 |
GeneIDi | 3892 |
KEGGi | hsa:3892 |
UCSCi | uc001sad.3, human |
Similar proteinsi
Cross-referencesi
Web resourcesi
Human Intermediate Filament Mutation Database |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ000263 Genomic DNA Translation: CAA03979.1 BC069585 mRNA Translation: AAH69585.1 X99142 mRNA Translation: CAA67579.1 |
CCDSi | CCDS41785.1 |
RefSeqi | NP_001307127.1, NM_001320198.1 XP_016874785.1, XM_017019296.1 |
3D structure databases
SMRi | O43790 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 110090, 52 interactors |
ComplexPortali | CPX-5663, Keratin-36 - Keratin-86 dimer complex |
IntActi | O43790, 46 interactors |
STRINGi | 9606.ENSP00000444533 |
PTM databases
iPTMneti | O43790 |
PhosphoSitePlusi | O43790 |
SwissPalmi | O43790 |
Genetic variation databases
BioMutai | KRT86 |
Proteomic databases
jPOSTi | O43790 |
MassIVEi | O43790 |
PaxDbi | O43790 |
PeptideAtlasi | O43790 |
PRIDEi | O43790 |
ProteomicsDBi | 12677 49170 |
Protocols and materials databases
Antibodypediai | 56637, 58 antibodies |
DNASUi | 3892 |
Genome annotation databases
Ensembli | ENST00000293525; ENSP00000293525; ENSG00000170442 ENST00000423955; ENSP00000444533; ENSG00000170442 |
GeneIDi | 3892 |
KEGGi | hsa:3892 |
UCSCi | uc001sad.3, human |
Organism-specific databases
CTDi | 3892 |
DisGeNETi | 3892 |
GeneCardsi | KRT86 |
HGNCi | HGNC:6463, KRT86 |
HPAi | ENSG00000170442, Group enriched (blood, skin, testis) |
MalaCardsi | KRT86 |
MIMi | 158000, phenotype 601928, gene |
neXtProti | NX_O43790 |
OpenTargetsi | ENSG00000170442 |
Orphaneti | 573, Monilethrix |
PharmGKBi | PA30252 |
VEuPathDBi | HostDB:ENSG00000170442.11 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502RTZU, Eukaryota |
GeneTreei | ENSGT00940000161838 |
HOGENOMi | CLU_012560_5_0_1 |
InParanoidi | O43790 |
OMAi | CQNCKLE |
OrthoDBi | 557821at2759 |
PhylomeDBi | O43790 |
TreeFami | TF317854 |
Enzyme and pathway databases
PathwayCommonsi | O43790 |
Reactomei | R-HSA-6805567, Keratinization R-HSA-6809371, Formation of the cornified envelope |
Miscellaneous databases
BioGRID-ORCSi | 3892, 123 hits in 867 CRISPR screens |
ChiTaRSi | KRT86, human |
GeneWikii | KRT86 |
GenomeRNAii | 3892 |
Pharosi | O43790, Tbio |
PROi | PR:O43790 |
RNActi | O43790, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000170442, Expressed in sperm and 114 other tissues |
ExpressionAtlasi | O43790, baseline and differential |
Genevisiblei | O43790, HS |
Family and domain databases
Gene3Di | 1.20.5.1160, 1 hit |
InterProi | View protein in InterPro 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 |
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 | KRT86_HUMAN | |
Accessioni | O43790Primary (citable) accession number: O43790 Secondary accession number(s): P78387 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 29, 2004 |
Last sequence update: | June 1, 1998 | |
Last modified: | February 10, 2021 | |
This is version 172 of the entry and version 1 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