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O43790 (KRT86_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 114. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:KRT86
Synonyms:KRTHB6
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length486 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Subunit structure

Heterotetramer of two type I and two type II keratins.

Tissue specificity

Synthesis begins slightly higher in the hair shaft than HB1 and HB3 and continues much farther up, ending in the keratogeneous zone. Ref.3

Involvement in disease

Monilethrix (MLTRX) [MIM:158000]: Autosomal dominant hair disorder characterized clinically 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4 Ref.5 Ref.6 Ref.7

Miscellaneous

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

Sequence similarities

Belongs to the intermediate filament family.

Ontologies

Keywords
   Cellular componentIntermediate filament
Keratin
   DiseaseDisease mutation
   DomainCoiled coil
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentextracellular space

Inferred from direct assay PubMed 23580065. Source: UniProt

keratin filament

Inferred from electronic annotation. Source: InterPro

   Molecular_functionstructural molecule activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 486486Keratin, type II cuticular Hb6
PRO_0000063704

Regions

Region1 – 106106Head
Region107 – 413307Rod
Region107 – 14135Coil 1A
Region142 – 15110Linker 1
Region152 – 252101Coil 1B
Region253 – 26917Linker 12
Region270 – 413144Coil 2
Region414 – 48673Tail

Natural variations

Natural variant1141N → D in MLTRX. Ref.5 Ref.6
VAR_018125
Natural variant1141N → H in MLTRX. Ref.6
VAR_023053
Natural variant4021E → K in MLTRX. Ref.5 Ref.7
VAR_018127
Natural variant4021E → Q in MLTRX. Ref.7
Corresponds to variant rs28939669 [ dbSNP | Ensembl ].
VAR_018126
Natural variant4131E → D in MLTRX. Ref.4
VAR_018129
Natural variant4131E → K in MLTRX. Ref.4 Ref.6
VAR_018128

Experimental info

Sequence conflict621S → D in CAA67579. Ref.3

Sequences

Sequence LengthMass (Da)Tools
O43790 [UniParc].

Last modified June 1, 1998. Version 1.
Checksum: 5ED86FB4CCA62688

FASTA48653,501
        10         20         30         40         50         60 
MTCGSYCGGR AFSCISACGP RPGRCCITAA PYRGISCYRG LTGGFGSHSV CGGFRAGSCG 

        70         80         90        100        110        120 
RSFGYRSGGV CGPSPPCITT VSVNESLLTP LNLEIDPNAQ CVKQEEKEQI KSLNSRFAAF 

       130        140        150        160        170        180 
IDKVRFLEQQ NKLLETKLQF YQNRECCQSN LEPLFEGYIE TLRREAECVE ADSGRLASEL 

       190        200        210        220        230        240 
NHVQEVLEGY KKKYEEEVSL RATAENEFVA LKKDVDCAYL RKSDLEANVE ALIQEIDFLR 

       250        260        270        280        290        300 
RLYEEEIRVL QSHISDTSVV VKLDNSRDLN MDCIIAEIKA QYDDIVTRSR AEAESWYRSK 

       310        320        330        340        350        360 
CEEMKATVIR HGETLRRTKE EINELNRMIQ RLTAEVENAK CQNSKLEAAV AQSEQQGEAA 

       370        380        390        400        410        420 
LSDARCKLAE LEGALQKAKQ DMACLIREYQ EVMNSKLGLD IEIATYRRLL EGEEQRLCEG 

       430        440        450        460        470        480 
VGSVNVCVSS SRGGVVCGDL CASTTAPVVS TRVSSVPSNS NVVVGTTNAC APSARVGVCG 


GSCKRC 

« Hide

References

« Hide 'large scale' references
[1]"Characterization and chromosomal localization of human hair-specific keratin genes and comparative expression during the hair growth cycle."
Bowden P.E., Hainey S.D., Parker G., Jones D.O., Zimonjic D., Popescu N., Hodgins M.B.
J. Invest. Dermatol. 110:158-164(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[3]"Sequences and differential expression of three novel human type-II hair keratins."
Rogers M.A., Langbein L., Praetzel S., Krieg T., Winter H., Schweizer J.
Differentiation 61:187-194(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 4-486, TISSUE SPECIFICITY.
[4]"A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix."
Winter H., Rogers M.A., Gebhardt M., Wollina U., Boxall L., Chitayat D., Babul-Hirji R., Stevens H.P., Zlotogorski A., Schweizer J.
Hum. Genet. 101:165-169(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MLTRX LYS-413 AND ASP-413.
[5]"Monilethrix: a novel mutation (Glu402Lys) in the helix termination motif and the first causative mutation (Asn114Asp) in the helix initiation motif of the type II hair keratin hHb6."
Winter H., Clark R.D., Tarras-Wahlberg C., Rogers M.A., Schweizer J.
J. Invest. Dermatol. 113:263-266(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MLTRX ASP-114 AND LYS-402.
[6]"Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype."
Korge B.P., Hamm H., Jury C.S., Traupe H., Irvine A.D., Healy E., Birch-MacHin M.A., Rees J.L., Messenger A.G., Holmes S.C., Parry D.A., Munro C.S.
J. Invest. Dermatol. 113:607-612(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MLTRX ASP-114; HIS-114 AND LYS-413.
[7]"Two different mutations in the same codon of a type II hair keratin (hHb6) in patients with monilethrix."
Pearce E.G., Smith S.K., Lanigan S.W., Bowden P.E.
J. Invest. Dermatol. 113:1123-1127(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MLTRX GLN-402 AND LYS-402.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ000263 Genomic DNA. Translation: CAA03979.1.
BC069585 mRNA. Translation: AAH69585.1.
X99142 mRNA. Translation: CAA67579.1.
RefSeqNP_002275.1. NM_002284.3.
UniGeneHs.278658.

3D structure databases

ProteinModelPortalO43790.
SMRO43790. Positions 105-254, 272-412.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110090. 4 interactions.
STRING9606.ENSP00000293525.

PTM databases

PhosphoSiteO43790.

Proteomic databases

PRIDEO43790.

Protocols and materials databases

DNASU3892.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000293525; ENSP00000293525; ENSG00000170442.
ENST00000423955; ENSP00000444533; ENSG00000170442.
ENST00000544024; ENSP00000443169; ENSG00000170442.
GeneID3892.
KEGGhsa:3892.
UCSCuc001sad.3. human.

Organism-specific databases

CTD3892.
GeneCardsGC12P052643.
HGNCHGNC:6463. KRT86.
HPAHPA039798.
MIM158000. phenotype.
601928. gene.
neXtProtNX_O43790.
Orphanet573. Monilethrix.
PharmGKBPA30252.
GenAtlasSearch...

Phylogenomic databases

HOGENOMHOG000230976.
HOVERGENHBG013015.
InParanoidO43790.
KOK07605.
OMACAPSARV.
PhylomeDBO43790.
TreeFamTF317854.

Gene expression databases

ArrayExpressO43790.
CleanExHS_KRT86.
GenevestigatorO43790.

Family and domain databases

InterProIPR001664. IF.
IPR018039. Intermediate_filament_CS.
IPR003054. Keratin_II.
[Graphical view]
PANTHERPTHR23239. PTHR23239. 1 hit.
PfamPF00038. Filament. 1 hit.
[Graphical view]
PRINTSPR01276. TYPE2KERATIN.
PROSITEPS00226. IF. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSKRT86. human.
GeneWikiKRT86.
GenomeRNAi3892.
NextBio15281.
PROO43790.
SOURCESearch...

Entry information

Entry nameKRT86_HUMAN
AccessionPrimary (citable) accession number: O43790
Secondary accession number(s): P78387
Entry history
Integrated into UniProtKB/Swiss-Prot: March 29, 2004
Last sequence update: June 1, 1998
Last modified: April 16, 2014
This is version 114 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM