O43790 (KRT86_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	KRT86
Synonyms:	KRTHB6

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	486 AA.
Sequence status	Complete.
Protein existence	Evidence 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 component	Intermediate filament Keratin
Disease	Disease mutation
Domain	Coiled coil
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cytoskeleton organization Non-traceable author statement. Source: UniProtKB
Cellular_component	intermediate filament Non-traceable author statement. Source: UniProtKB keratin filament Inferred from electronic annotation. Source: InterPro
Molecular_function	structural molecule activity Non-traceable author statement. Source: UniProtKB
Complete GO annotation...

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	35	Coil 1A
	Region	142 – 151	10	Linker 1
	Region	152 – 252	101	Coil 1B
	Region	253 – 269	17	Linker 12
	Region	270 – 413	144	Coil 2
	Region	414 – 486	73	Tail
Natural variations
	Natural variant	114	1	N → D in MLTRX. Ref.5 Ref.6		VAR_018125
	Natural variant	114	1	N → H in MLTRX. Ref.6		VAR_023053
	Natural variant	402	1	E → K in MLTRX. Ref.5 Ref.7		VAR_018127
	Natural variant	402	1	E → Q in MLTRX. Ref.7 Corresponds to variant rs28939669 [ dbSNP | Ensembl ].		VAR_018126
	Natural variant	413	1	E → D in MLTRX. Ref.4		VAR_018129
	Natural variant	413	1	E → K in MLTRX. Ref.4 Ref.6		VAR_018128
Experimental info
	Sequence conflict	62	1	S → D in CAA67579. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	O43790 [UniParc]. Last modified June 1, 1998. Version 1. Checksum: 5ED86FB4CCA62688	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

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] [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.

Web resources

Human Intermediate Filament Mutation Database

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	AJ000263 Genomic DNA. Translation: CAA03979.1. BC069585 mRNA. Translation: AAH69585.1. X99142 mRNA. Translation: CAA67579.1.
IPI	IPI00182655.
RefSeq	NP_002275.1. NM_002284.3.
UniGene	Hs.278658.
3D structure databases
ProteinModelPortal	O43790.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000293525.
PTM databases
PhosphoSite	O43790.
Proteomic databases
PRIDE	O43790.
Protocols and materials databases
DNASU	3892.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000553310; ENSP00000452237; ENSG00000258832.
GeneID	3892.
KEGG	hsa:3892.
UCSC	uc001sad.3. human.
Organism-specific databases
CTD	3892.
GeneCards	GC12P052644. GC12P052668.
HGNC	HGNC:6463. KRT86.
HPA	HPA039798.
MIM	158000. phenotype. 601928. gene.
neXtProt	NX_O43790.
Orphanet	573. Monilethrix.
PharmGKB	PA30252.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	HOG000230976.
HOVERGEN	HBG013015.
InParanoid	O43790.
KO	K07605.
OMA	GSCTSSC.
OrthoDB	EOG4B2SX3.
PhylomeDB	O43790.
Gene expression databases
ArrayExpress	O43790.
CleanEx	HS_KRT86.
Genevestigator	O43790.
GermOnline	ENSG00000170442. Homo sapiens.
Family and domain databases
InterPro	IPR016044. F. IPR001664. IF. IPR018039. Intermediate_filament_CS. IPR003054. Keratin_II. [Graphical view]
PANTHER	PTHR23239. PTHR23239. 1 hit. PTHR23239:SF18. PTHR23239:SF18. 1 hit.
Pfam	PF00038. Filament. 1 hit. [Graphical view]
PRINTS	PR01276. TYPE2KERATIN.
PROSITE	PS00226. IF. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	KRT86. human.
GenomeRNAi	3892.
NextBio	15281.
SOURCE	Search...

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:	May 1, 2013
This is version 106 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.