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UniProtKB - O43790 (KRT86_HUMAN)

Protein

Keratin, type II cuticular Hb6

Gene

KRT86

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

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000170442.11
HGNCiHGNC:6463 KRT86
MIMi601928 gene
neXtProtiNX_O43790

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:rs61091894EnsemblClinVar.1
Natural variantiVAR_023053114N → H in MNLIX. 1 PublicationCorresponds to variant dbSNP:rs61091894EnsemblClinVar.1
Natural variantiVAR_018127402E → K in MNLIX. 2 PublicationsCorresponds to variant dbSNP:rs60687604EnsemblClinVar.1
Natural variantiVAR_018126402E → Q in MNLIX. 1 PublicationCorresponds to variant dbSNP:rs60687604EnsemblClinVar.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:rs121909130EnsemblClinVar.1
Natural variantiVAR_018128413E → K in MNLIX. 2 PublicationsCorresponds to variant dbSNP:rs121909129EnsemblClinVar.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
ProteomicsDBi12677
49170

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 Expressed in 100 organ(s), highest expression level in sperm
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

Protein-protein interaction databases

BioGridi110090, 7 interactors
IntActiO43790, 45 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
GeneTreeiENSGT00910000144006
HOGENOMiHOG000230976
HOVERGENiHBG013015
InParanoidiO43790
KOiK07605
OMAiMTCGFSN
OrthoDBiEOG091G06FG
PhylomeDBiO43790
TreeFamiTF317854

Family and domain databases

InterProiView protein in InterPro
IPR001664 IF
IPR018039 IF_conserved
IPR039008 IF_rod_dom
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

Sequence (1+)i

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
« 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

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
U3KPR1U3KPR1_HUMAN
Keratin, type II cuticular Hb6
KRT86
143Annotation score:

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:rs61091894EnsemblClinVar.1
Natural variantiVAR_023053114N → H in MNLIX. 1 PublicationCorresponds to variant dbSNP:rs61091894EnsemblClinVar.1
Natural variantiVAR_018127402E → K in MNLIX. 2 PublicationsCorresponds to variant dbSNP:rs60687604EnsemblClinVar.1
Natural variantiVAR_018126402E → Q in MNLIX. 1 PublicationCorresponds to variant dbSNP:rs60687604EnsemblClinVar.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:rs121909130EnsemblClinVar.1
Natural variantiVAR_018128413E → 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
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

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
CCDSiCCDS41785.1
RefSeqiNP_001307127.1, NM_001320198.1
XP_016874785.1, XM_017019296.1
UniGeneiHs.278658
Hs.733602

3D structure databases

ProteinModelPortaliO43790
SMRiO43790
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110090, 7 interactors
IntActiO43790, 45 interactors
STRINGi9606.ENSP00000452237

PTM databases

iPTMnetiO43790
PhosphoSitePlusiO43790
SwissPalmiO43790

Polymorphism and mutation databases

BioMutaiKRT86

Proteomic databases

PaxDbiO43790
PeptideAtlasiO43790
PRIDEiO43790
ProteomicsDBi12677
49170

Protocols and materials databases

DNASUi3892
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi3892
DisGeNETi3892
EuPathDBiHostDB:ENSG00000170442.11
GeneCardsiKRT86
HGNCiHGNC:6463 KRT86
HPAiHPA039798
HPA049778
MalaCardsiKRT86
MIMi158000 phenotype
601928 gene
neXtProtiNX_O43790
OpenTargetsiENSG00000170442
Orphaneti573 Monilethrix
PharmGKBiPA30252
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IH1H Eukaryota
ENOG41113GZ LUCA
GeneTreeiENSGT00910000144006
HOGENOMiHOG000230976
HOVERGENiHBG013015
InParanoidiO43790
KOiK07605
OMAiMTCGFSN
OrthoDBiEOG091G06FG
PhylomeDBiO43790
TreeFamiTF317854

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRSiKRT86 human
GeneWikiiKRT86
GenomeRNAii3892
PROiPR:O43790
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000170442 Expressed in 100 organ(s), highest expression level in sperm
CleanExiHS_KRT86
ExpressionAtlasiO43790 baseline and differential
GenevisibleiO43790 HS

Family and domain databases

InterProiView protein in InterPro
IPR001664 IF
IPR018039 IF_conserved
IPR039008 IF_rod_dom
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
ProtoNetiSearch...

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: November 7, 2018
This is version 155 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
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