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O43790

- KRT86_HUMAN

UniProt

O43790 - KRT86_HUMAN

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Protein
Keratin, type II cuticular Hb6
Gene
KRT86, KRTHB6
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

  1. structural molecule activity Source: InterPro
Complete GO annotation...

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
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:6463. KRT86.

Subcellular locationi

GO - Cellular componenti

  1. extracellular space Source: UniProt
  2. extracellular vesicular exosome Source: UniProt
  3. keratin filament Source: InterPro
Complete GO annotation...

Keywords - Cellular componenti

Intermediate filament, Keratin

Pathology & Biotechi

Involvement in diseasei

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.4 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti114 – 1141N → D in MLTRX. 2 Publications
VAR_018125
Natural varianti114 – 1141N → H in MLTRX. 1 Publication
VAR_023053
Natural varianti402 – 4021E → K in MLTRX. 2 Publications
VAR_018127
Natural varianti402 – 4021E → Q in MLTRX. 1 Publication
Corresponds to variant rs28939669 [ dbSNP | Ensembl ].
VAR_018126
Natural varianti413 – 4131E → D in MLTRX. 1 Publication
VAR_018129
Natural varianti413 – 4131E → K in MLTRX. 2 Publications
VAR_018128

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi158000. phenotype.
Orphaneti573. Monilethrix.
PharmGKBiPA30252.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 486486Keratin, type II cuticular Hb6
PRO_0000063704Add
BLAST

Proteomic databases

MaxQBiO43790.
PRIDEiO43790.

PTM databases

PhosphoSiteiO43790.

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

ArrayExpressiO43790.
CleanExiHS_KRT86.
GenevestigatoriO43790.

Organism-specific databases

HPAiHPA039798.

Interactioni

Subunit structurei

Heterotetramer of two type I and two type II keratins.

Protein-protein interaction databases

BioGridi110090. 4 interactions.
STRINGi9606.ENSP00000293525.

Structurei

3D structure databases

ProteinModelPortaliO43790.
SMRiO43790. Positions 106-254, 272-412.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 106106Head
Add
BLAST
Regioni107 – 413307Rod
Add
BLAST
Regioni107 – 14135Coil 1A
Add
BLAST
Regioni142 – 15110Linker 1
Regioni152 – 252101Coil 1B
Add
BLAST
Regioni253 – 26917Linker 12
Add
BLAST
Regioni270 – 413144Coil 2
Add
BLAST
Regioni414 – 48673Tail
Add
BLAST

Sequence similaritiesi

Keywords - Domaini

Coiled coil

Phylogenomic databases

HOGENOMiHOG000230976.
HOVERGENiHBG013015.
InParanoidiO43790.
KOiK07605.
OMAiCAPSARV.
PhylomeDBiO43790.
TreeFamiTF317854.

Family and domain databases

InterProiIPR001664. IF.
IPR018039. Intermediate_filament_CS.
IPR003054. Keratin_II.
[Graphical view]
PANTHERiPTHR23239. PTHR23239. 1 hit.
PfamiPF00038. Filament. 1 hit.
[Graphical view]
PRINTSiPR01276. TYPE2KERATIN.
PROSITEiPS00226. IF. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

O43790-1 [UniParc]FASTAAdd to Basket

« Hide

MTCGSYCGGR AFSCISACGP RPGRCCITAA PYRGISCYRG LTGGFGSHSV    50
CGGFRAGSCG RSFGYRSGGV CGPSPPCITT VSVNESLLTP LNLEIDPNAQ 100
CVKQEEKEQI KSLNSRFAAF IDKVRFLEQQ NKLLETKLQF YQNRECCQSN 150
LEPLFEGYIE TLRREAECVE ADSGRLASEL NHVQEVLEGY KKKYEEEVSL 200
RATAENEFVA LKKDVDCAYL RKSDLEANVE ALIQEIDFLR RLYEEEIRVL 250
QSHISDTSVV VKLDNSRDLN MDCIIAEIKA QYDDIVTRSR AEAESWYRSK 300
CEEMKATVIR HGETLRRTKE EINELNRMIQ RLTAEVENAK CQNSKLEAAV 350
AQSEQQGEAA LSDARCKLAE LEGALQKAKQ DMACLIREYQ EVMNSKLGLD 400
IEIATYRRLL EGEEQRLCEG VGSVNVCVSS SRGGVVCGDL CASTTAPVVS 450
TRVSSVPSNS NVVVGTTNAC APSARVGVCG GSCKRC 486
Length:486
Mass (Da):53,501
Last modified:June 1, 1998 - v1
Checksum:i5ED86FB4CCA62688
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti114 – 1141N → D in MLTRX. 2 Publications
VAR_018125
Natural varianti114 – 1141N → H in MLTRX. 1 Publication
VAR_023053
Natural varianti402 – 4021E → K in MLTRX. 2 Publications
VAR_018127
Natural varianti402 – 4021E → Q in MLTRX. 1 Publication
Corresponds to variant rs28939669 [ dbSNP | Ensembl ].
VAR_018126
Natural varianti413 – 4131E → D in MLTRX. 1 Publication
VAR_018129
Natural varianti413 – 4131E → K in MLTRX. 2 Publications
VAR_018128

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti62 – 621S → D in CAA67579. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AJ000263 Genomic DNA. Translation: CAA03979.1.
BC069585 mRNA. Translation: AAH69585.1.
X99142 mRNA. Translation: CAA67579.1.
CCDSiCCDS41785.1.
RefSeqiNP_002275.1. NM_002284.3.
UniGeneiHs.278658.

Genome annotation databases

EnsembliENST00000293525; ENSP00000293525; ENSG00000170442.
ENST00000423955; ENSP00000444533; ENSG00000170442.
ENST00000544024; ENSP00000443169; ENSG00000170442.
GeneIDi3892.
KEGGihsa:3892.
UCSCiuc001sad.3. human.

Cross-referencesi

Web resourcesi

Human Intermediate Filament Mutation Database

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AJ000263 Genomic DNA. Translation: CAA03979.1 .
BC069585 mRNA. Translation: AAH69585.1 .
X99142 mRNA. Translation: CAA67579.1 .
CCDSi CCDS41785.1.
RefSeqi NP_002275.1. NM_002284.3.
UniGenei Hs.278658.

3D structure databases

ProteinModelPortali O43790.
SMRi O43790. Positions 106-254, 272-412.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110090. 4 interactions.
STRINGi 9606.ENSP00000293525.

PTM databases

PhosphoSitei O43790.

Proteomic databases

MaxQBi O43790.
PRIDEi O43790.

Protocols and materials databases

DNASUi 3892.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000293525 ; ENSP00000293525 ; ENSG00000170442 .
ENST00000423955 ; ENSP00000444533 ; ENSG00000170442 .
ENST00000544024 ; ENSP00000443169 ; ENSG00000170442 .
GeneIDi 3892.
KEGGi hsa:3892.
UCSCi uc001sad.3. human.

Organism-specific databases

CTDi 3892.
GeneCardsi GC12P052643.
HGNCi HGNC:6463. KRT86.
HPAi HPA039798.
MIMi 158000. phenotype.
601928. gene.
neXtProti NX_O43790.
Orphaneti 573. Monilethrix.
PharmGKBi PA30252.
GenAtlasi Search...

Phylogenomic databases

HOGENOMi HOG000230976.
HOVERGENi HBG013015.
InParanoidi O43790.
KOi K07605.
OMAi CAPSARV.
PhylomeDBi O43790.
TreeFami TF317854.

Miscellaneous databases

ChiTaRSi KRT86. human.
GeneWikii KRT86.
GenomeRNAii 3892.
NextBioi 15281.
PROi O43790.
SOURCEi Search...

Gene expression databases

ArrayExpressi O43790.
CleanExi HS_KRT86.
Genevestigatori O43790.

Family and domain databases

InterProi IPR001664. IF.
IPR018039. Intermediate_filament_CS.
IPR003054. Keratin_II.
[Graphical view ]
PANTHERi PTHR23239. PTHR23239. 1 hit.
Pfami PF00038. Filament. 1 hit.
[Graphical view ]
PRINTSi PR01276. TYPE2KERATIN.
PROSITEi PS00226. IF. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.

Entry informationi

Entry nameiKRT86_HUMAN
AccessioniPrimary (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: September 3, 2014
This is version 118 of the entry and version 1 of the sequence. [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

Miscellaneous

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

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

External Data

Dasty 3

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