Keratin, type II cuticular Hb6 - Homo sapiens (Human)

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Reviewed, UniProtKB/Swiss-Prot O43790 (KRT86_HUMAN)

Last modified July 7, 2009. Version 72. History...

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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

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Names and origin

Protein names

Recommended name:
    Keratin, type II cuticular Hb6
Alternative name(s):
    Type II hair keratin Hb6
    Keratin-86
      Short name=K86
    K2.11

Gene names

Name:	KRT86
Synonyms:	KRTHB6

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length	486 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

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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	Defects in KRT86 are a cause of Monilethrix [MIM:158000]. Monilethrix is an 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. 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.
Caution	Maps to a duplicated region on chromosome 12.

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Ontologies

Keywords
Cellular component	Intermediate filament Keratin
Disease	Disease mutation
Domain	Coiled coil
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	cytoskeleton organization Non-traceable author statement. Source: UniProtKB
Cellular component	keratin filament Inferred from electronic annotation. Source: InterPro
Molecular function	structural molecule activity Non-traceable author statement. Source: UniProtKB
Complete GO annotation...

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Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 486

486

Keratin, type II cuticular Hb6

PRO_0000063704

Regions

Region

1 – 106

106

Head

Region

107 – 413

307

Rod

Region

107 – 141

Coil 1A

Region

142 – 151

Linker 1

Region

152 – 252

101

Coil 1B

Region

253 – 269

Linker 12

Region

270 – 413

144

Coil 2

Region

414 – 486

Tail

Natural variations

Natural variant

114

N → D in Monilethrix.

VAR_018125

Natural variant

114

N → H in Monilethrix.

VAR_023053

Natural variant

402

E → K in Monilethrix.

VAR_018127

Natural variant

402

E → Q in Monilethrix.

VAR_018126

Natural variant

413

E → D in Monilethrix.

VAR_018129

Natural variant

413

E → K in Monilethrix.

VAR_018128

Experimental info

Sequence conflict

S → D in CAA67579. Ref.3

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Sequences

Sequence

Length

Mass (Da)

Tools

O43790-1 [UniParc].

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

486

53,501

        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

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References

	« Hide 'large scale' referencesShow '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: 9457912] [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: 15489334] [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: 9084137] [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: 9402962] [Abstract] Cited for: VARIANTS MONILETHRIX 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: 10469314] [Abstract] Cited for: VARIANTS MONILETHRIX 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: 10504448] [Abstract] Cited for: VARIANTS MONILETHRIX 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: 10594761] [Abstract] Cited for: VARIANTS MONILETHRIX GLN-402 AND LYS-402.
+	Additional computationally mapped references.

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Web resources

Human Intermediate Filament Mutation Database

GeneReviews

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Cross-references

Sequence databases
	AJ000263 Genomic DNA. Translation: CAA03979.1. BC069585 mRNA. Translation: AAH69585.1. X99142 mRNA. Translation: CAA67579.1.
IPI	IPI00182655.
RefSeq	NP_002275.1.
UniGene	Hs.278658
3D structure databases
HSSP	HSSP built from PDB template 1GK7 based on UniProtKB P08670.
ModBase	Search...
PTM databases
PhosphoSite	O43790.
Proteomic databases
PRIDE	O43790.
Genome annotation databases
Ensembl	ENSG00000170442. Homo sapiens. [Contig view]
GeneID	3892.
KEGG	hsa:3892.
NMPDR	fig\|9606.3.peg.7581.
UCSC	uc001sad.1. human.
Organism-specific databases
GeneCards	GC12P050982.
H-InvDB	HIX0010653.
HGNC	HGNC:6463. KRT86.
MIM	158000. phenotype. 601928. gene.
Orphanet	573. Monilethrix.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	O43790.
OMA	O43790. NACAPSA.
Gene expression databases
ArrayExpress	O43790.
Bgee	O43790.
CleanEx	HS_KRT86.
GermOnline	ENSG00000170442. Homo sapiens.
Family and domain databases
InterPro	IPR016044. F. IPR001664. IF. IPR018039. Intermediate_filament_CS. IPR003054. Keratin_II. [Graphical view]
PANTHER	PTHR23239. IF. 1 hit. PTHR23239:SF18. Keratin_II. 1 hit.
Pfam	PF00038. Filament. 1 hit. [Graphical view]
PRINTS	PR01276. TYPE2KERATIN.
PROSITE	PS00226. IF. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	15281.
SOURCE	Search...

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Entry information

Entry name

KRT86_HUMAN

Accession

Primary (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:	July 7, 2009
This is version 72 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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Relevant documents

Human chromosome 12

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

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

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

SIMILARITY comments

Index of protein domains and families

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Sequence annotation (Features)

Molecule processing

Regions

Natural variations

Experimental info

Sequences

References

Web resources

Cross-references

Sequence databases

3D structure databases

PTM databases

Proteomic databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Gene expression databases

Family and domain databases

Other Resources

Entry information

Relevant documents