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Protein

Keratin, type II cuticular Hb6

Gene

KRT86

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Miscellaneous

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

GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

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

Names & Taxonomyi

Protein namesi
Recommended name:
Keratin, type II cuticular Hb6
Alternative 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000170442.11.
HGNCiHGNC:6463. KRT86.

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

Keywords - Cellular componenti

Intermediate filament, Keratin

Pathology & Biotechi

Involvement in diseasei

Monilethrix (MNLIX)5 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.
See also OMIM:158000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_018125114N → D in MNLIX. 2 PublicationsCorresponds to variant dbSNP:rs61091894Ensembl.1
Natural variantiVAR_023053114N → H in MNLIX. 1 PublicationCorresponds to variant dbSNP:rs61091894Ensembl.1
Natural variantiVAR_018127402E → K in MNLIX. 2 PublicationsCorresponds to variant dbSNP:rs60687604Ensembl.1
Natural variantiVAR_018126402E → Q in MNLIX. 1 PublicationCorresponds to variant dbSNP:rs28939669Ensembl.1
Natural variantiVAR_073050409L → P in MNLIX. 1 Publication1
Natural variantiVAR_073051410L → P in MNLIX. 1 Publication1
Natural variantiVAR_018129413E → D in MNLIX. 1 PublicationCorresponds to variant dbSNP:rs121909130Ensembl.1
Natural variantiVAR_018128413E → K in MNLIX. 2 PublicationsCorresponds to variant dbSNP:rs121909129Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi3892.
MalaCardsiKRT86.
MIMi158000. phenotype.
OpenTargetsiENSG00000170442.
Orphaneti573. Monilethrix.
PharmGKBiPA30252.

Polymorphism and mutation databases

BioMutaiKRT86.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000637041 – 486Keratin, type II cuticular Hb6Add BLAST486

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki212Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)By similarity

Keywords - PTMi

Isopeptide bond, Ubl conjugation

Proteomic databases

PaxDbiO43790.
PeptideAtlasiO43790.
PRIDEiO43790.

PTM databases

iPTMnetiO43790.
PhosphoSitePlusiO43790.
SwissPalmiO43790.

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

BgeeiENSG00000170442.
CleanExiHS_KRT86.
ExpressionAtlasiO43790. baseline and differential.
GenevisibleiO43790. HS.

Organism-specific databases

HPAiHPA039798.
HPA049778.

Interactioni

Subunit structurei

Heterotetramer of two type I and two type II keratins.

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi110090. 6 interactors.
IntActiO43790. 44 interactors.
STRINGi9606.ENSP00000452237.

Structurei

3D structure databases

ProteinModelPortaliO43790.
SMRiO43790.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini106 – 417IF rodPROSITE-ProRule annotationAdd BLAST312

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 106HeadAdd BLAST106
Regioni107 – 141Coil 1AAdd BLAST35
Regioni142 – 151Linker 110
Regioni152 – 252Coil 1BAdd BLAST101
Regioni253 – 269Linker 12Add BLAST17
Regioni270 – 413Coil 2Add BLAST144
Regioni414 – 486TailAdd BLAST73

Sequence similaritiesi

Belongs to the intermediate filament family.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IH1H. Eukaryota.
ENOG41113GZ. LUCA.
GeneTreeiENSGT00830000128228.
HOGENOMiHOG000230976.
HOVERGENiHBG013015.
InParanoidiO43790.
KOiK07605.
OMAiSILGCKK.
OrthoDBiEOG091G06FG.
PhylomeDBiO43790.
TreeFamiTF317854.

Family and domain databases

InterProiView protein in InterPro
IPR001664. IF.
IPR018039. Intermediate_filament_CS.
IPR032444. Keratin_2_head.
IPR003054. Keratin_II.
PANTHERiPTHR23239. PTHR23239. 1 hit.
PfamiView protein in Pfam
PF00038. Filament. 1 hit.
PF16208. Keratin_2_head. 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.

Sequencei

Sequence statusi: Complete.

O43790-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:486
Mass (Da):53,501
Last modified:June 1, 1998 - v1
Checksum:i5ED86FB4CCA62688
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti62S → D in CAA67579 (PubMed:9084137).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_018125114N → D in MNLIX. 2 PublicationsCorresponds to variant dbSNP:rs61091894Ensembl.1
Natural variantiVAR_023053114N → H in MNLIX. 1 PublicationCorresponds to variant dbSNP:rs61091894Ensembl.1
Natural variantiVAR_018127402E → K in MNLIX. 2 PublicationsCorresponds to variant dbSNP:rs60687604Ensembl.1
Natural variantiVAR_018126402E → Q in MNLIX. 1 PublicationCorresponds to variant dbSNP:rs28939669Ensembl.1
Natural variantiVAR_073050409L → P in MNLIX. 1 Publication1
Natural variantiVAR_073051410L → P in MNLIX. 1 Publication1
Natural variantiVAR_018129413E → D in MNLIX. 1 PublicationCorresponds to variant dbSNP:rs121909130Ensembl.1
Natural variantiVAR_018128413E → K in MNLIX. 2 PublicationsCorresponds to variant dbSNP:rs121909129Ensembl.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.
CCDSiCCDS41785.1.
RefSeqiNP_001307127.1. NM_001320198.1.
XP_016874785.1. XM_017019296.1.
UniGeneiHs.278658.
Hs.733602.

Genome annotation databases

EnsembliENST00000293525; ENSP00000293525; ENSG00000170442.
ENST00000423955; ENSP00000444533; ENSG00000170442.
GeneIDi3892.
KEGGihsa:3892.
UCSCiuc001sad.3. human.

Similar proteinsi

Entry informationi

Entry nameiKRT86_HUMAN
AccessioniPrimary (citable) accession number: O43790
Secondary accession number(s): P78387
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 29, 2004
Last sequence update: June 1, 1998
Last modified: October 25, 2017
This is version 148 of the entry and version 1 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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