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P04259 (K2C6B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 143. 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 cytoskeletal 6B
Alternative name(s):
Cytokeratin-6B
Short name=CK-6B
Keratin-6B
Short name=K6B
Type-II keratin Kb10
Gene names
Name:KRT6B
Synonyms:K6B, KRTL1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length564 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Subunit structure

Heterodimer of a type I and a type II keratin. KRT6 isomers associate with KRT16 and/or KRT17.

Tissue specificity

Constitutively expressed in distinct types of epithelia such as those in oral mucosa, esophagus, papillae of tongue and hair follicle outer root sheath.

Involvement in disease

Pachyonychia congenita 2 (PC2) [MIM:167210]: An autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy resulting in onchyogryposis (thickening and increase in curvature of the nail), palmoplantar keratoderma and hyperhidrosis, follicular hyperkeratosis, multiple epidermal cysts, absent/sparse eyebrow and body hair, and by the presence of natal teeth.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Miscellaneous

There are at least six isoforms of human type II keratin-6 (K6).

There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic) (40-55 and 56-70 kDa, respectively).

Sequence similarities

Belongs to the intermediate filament family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.5
Chain2 – 564563Keratin, type II cytoskeletal 6B
PRO_0000063732

Regions

Region2 – 162161Head
Region163 – 472310Rod
Region163 – 19836Coil 1A
Region199 – 21719Linker 1
Region218 – 30992Coil 1B
Region310 – 33324Linker 12
Region334 – 472139Coil 2
Region473 – 56492Tail

Sites

Site4141Stutter

Amino acid modifications

Modified residue21N-acetylalanine Ref.5
Modified residue601Phosphoserine By similarity

Natural variations

Natural variant211N → S. Ref.1 Ref.2
Corresponds to variant rs428894 [ dbSNP | Ensembl ].
VAR_021265
Natural variant2271N → S. Ref.1 Ref.2
Corresponds to variant rs652423 [ dbSNP | Ensembl ].
VAR_021266
Natural variant3651I → V. Ref.1 Ref.2
Corresponds to variant rs437014 [ dbSNP | Ensembl ].
VAR_021267
Natural variant4721E → K in PC2. Ref.7
Corresponds to variant rs60627726 [ dbSNP | Ensembl ].
VAR_023062

Experimental info

Sequence conflict89 – 902GS → AG in AAA59466. Ref.2
Sequence conflict116 – 1172AG → PA in AAA59466. Ref.2
Sequence conflict119 – 1213AGG → LC in AAA59466. Ref.2
Sequence conflict159 – 1602VR → IG in AAA59466. Ref.2
Sequence conflict2551D → V in AAA59466. Ref.2

Sequences

Sequence LengthMass (Da)Tools
P04259 [UniParc].

Last modified May 26, 2009. Version 5.
Checksum: FFA4C351FBF09F09

FASTA56460,067
        10         20         30         40         50         60 
MASTSTTIRS HSSSRRGFSA NSARLPGVSR SGFSSISVSR SRGSGGLGGA CGGAGFGSRS 

        70         80         90        100        110        120 
LYGLGGSKRI SIGGGSCAIS GGYGSRAGGS YGFGGAGSGF GFGGGAGIGF GLGGGAGLAG 

       130        140        150        160        170        180 
GFGGPGFPVC PPGGIQEVTV NQSLLTPLNL QIDPAIQRVR AEEREQIKTL NNKFASFIDK 

       190        200        210        220        230        240 
VRFLEQQNKV LDTKWTLLQE QGTKTVRQNL EPLFEQYINN LRRQLDNIVG ERGRLDSELR 

       250        260        270        280        290        300 
NMQDLVEDLK NKYEDEINKR TAAENEFVTL KKDVDAAYMN KVELQAKADT LTDEINFLRA 

       310        320        330        340        350        360 
LYDAELSQMQ THISDTSVVL SMDNNRNLDL DSIIAEVKAQ YEEIAQRSRA EAESWYQTKY 

       370        380        390        400        410        420 
EELQITAGRH GDDLRNTKQE IAEINRMIQR LRSEIDHVKK QCANLQAAIA DAEQRGEMAL 

       430        440        450        460        470        480 
KDAKNKLEGL EDALQKAKQD LARLLKEYQE LMNVKLALDV EIATYRKLLE GEECRLNGEG 

       490        500        510        520        530        540 
VGQVNISVVQ STVSSGYGGA SGVGSGLGLG GGSSYSYGSG LGVGGGFSSS SGRATGGGLS 

       550        560 
SVGGGSSTIK YTTTSSSSRK SYKH 

« Hide

References

« Hide 'large scale' references
[1]"Cloning and characterization of multiple human genes and cDNAs encoding highly related type II keratin 6 isoforms."
Takahashi K., Paladini R.D., Coulombe P.A.
J. Biol. Chem. 270:18581-18592(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS SER-21; SER-227 AND VAL-365.
Tissue: Skin.
[2]"The sequence of a type II keratin gene expressed in human skin: conservation of structure among all intermediate filament genes."
Tyner A.L., Eichman M.J., Fuchs E.
Proc. Natl. Acad. Sci. U.S.A. 82:4683-4687(1985) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS SER-21; SER-227 AND VAL-365.
[3]"The finished DNA sequence of human chromosome 12."
Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. expand/collapse author list , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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].
Tissue: Skin.
[5]Bienvenut W.V., Vousden K.H., Lukashchuk N.
Submitted (MAR-2008) to UniProtKB
Cited for: PROTEIN SEQUENCE OF 2-9; 16-24; 31-40; 43-86; 169-189; 195-204; 208-369; 376-386; 425-436; 456-475 AND 534-550, CLEAVAGE OF INITIATOR METHIONINE, ACETYLATION AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY.
Tissue: Lung carcinoma.
[6]"Microsequences of 145 proteins recorded in the two-dimensional gel protein database of normal human epidermal keratinocytes."
Rasmussen H.H., van Damme J., Puype M., Gesser B., Celis J.E., Vandekerckhove J.
Electrophoresis 13:960-969(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: PROTEIN SEQUENCE OF 195-203 AND 350-356.
Tissue: Keratinocyte.
[7]"A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2."
Smith F.J.D., Jonkman M.F., van Goor H., Coleman C.M., Covello S.P., Uitto J., McLean W.H.I.
Hum. Mol. Genet. 7:1143-1148(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PC2 LYS-472.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
L42592 expand/collapse EMBL AC list , L42584, L42585, L42586, L42587, L42588, L42589, L42590 Genomic DNA. Translation: AAC41768.1.
L42612 mRNA. Translation: AAC41771.1.
L00205 expand/collapse EMBL AC list , M11229, L00198, L00199, L00200, L00201, L00202, L00203, L00204 Genomic DNA. Translation: AAA59466.1.
AC055736 Genomic DNA. No translation available.
BC034535 mRNA. Translation: AAH34535.1.
PIRKRHUEB. I61767.
I61771.
RefSeqNP_005546.2. NM_005555.3.
UniGeneHs.708950.

3D structure databases

ProteinModelPortalP04259.
SMRP04259. Positions 160-302, 329-471.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110052. 21 interactions.
IntActP04259. 7 interactions.
MINTMINT-1456452.
STRING9606.ENSP00000252252.

Protein family/group databases

Allergome415. Hom s 5.

PTM databases

PhosphoSiteP04259.

Polymorphism databases

DMDM238054404.

Proteomic databases

PaxDbP04259.
PRIDEP04259.

Protocols and materials databases

DNASU3854.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000252252; ENSP00000252252; ENSG00000185479.
GeneID3854.
KEGGhsa:3854.
UCSCuc001sak.3. human.

Organism-specific databases

CTD3854.
GeneCardsGC12M052840.
HGNCHGNC:6444. KRT6B.
HPACAB000130.
HPA045697.
MIM148042. gene.
167210. phenotype.
neXtProtNX_P04259.
Orphanet2309. Pachyonychia congenita.
PharmGKBPA30232.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG315845.
HOGENOMHOG000230976.
HOVERGENHBG013015.
InParanoidP04259.
KOK07605.
OMAXSSAGSS.
OrthoDBEOG7FV3Q8.
PhylomeDBP04259.
TreeFamTF317854.

Gene expression databases

BgeeP04259.
CleanExHS_KRT6B.
GenevestigatorP04259.

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

GenomeRNAi3854.
NextBio15165.
PROP04259.
SOURCESearch...

Entry information

Entry nameK2C6B_HUMAN
AccessionPrimary (citable) accession number: P04259
Secondary accession number(s): P48669
Entry history
Integrated into UniProtKB/Swiss-Prot: March 20, 1987
Last sequence update: May 26, 2009
Last modified: April 16, 2014
This is version 143 of the entry and version 5 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