P04259 (K2C6B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

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	564 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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.

Ontologies

Keywords
Cellular component	Intermediate filament Keratin
Coding sequence diversity	Polymorphism
Disease	Disease mutation Ectodermal dysplasia Palmoplantar keratoderma
Domain	Coiled coil
PTM	Acetylation Phosphoprotein
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	ectoderm development Traceable author statement Ref.7. Source: ProtInc
Cellular_component	keratin filament Inferred from electronic annotation. Source: InterPro
Molecular_function	structural constituent of cytoskeleton Traceable author statement Ref.7. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Initiator methionine	1	1	Removed Ref.5
	Chain	2 – 564	563	Keratin, type II cytoskeletal 6B		PRO_0000063732
Regions
	Region	2 – 162	161	Head
	Region	163 – 472	310	Rod
	Region	163 – 198	36	Coil 1A
	Region	199 – 217	19	Linker 1
	Region	218 – 309	92	Coil 1B
	Region	310 – 333	24	Linker 12
	Region	334 – 472	139	Coil 2
	Region	473 – 564	92	Tail
Sites
	Site	414	1	Stutter
Amino acid modifications
	Modified residue	2	1	N-acetylalanine Ref.5
	Modified residue	237	1	Phosphoserine By similarity
Natural variations
	Natural variant	21	1	N → S. Ref.1 Ref.2 Corresponds to variant rs428894 [ dbSNP | Ensembl ].		VAR_021265
	Natural variant	227	1	N → S. Ref.1 Ref.2 Corresponds to variant rs652423 [ dbSNP | Ensembl ].		VAR_021266
	Natural variant	365	1	I → V. Ref.1 Ref.2 Corresponds to variant rs437014 [ dbSNP | Ensembl ].		VAR_021267
	Natural variant	472	1	E → K in PC2. Ref.7 Corresponds to variant rs60627726 [ dbSNP | Ensembl ].		VAR_023062
Experimental info
	Sequence conflict	89 – 90	2	GS → AG in AAA59466. Ref.2
	Sequence conflict	116 – 117	2	AG → PA in AAA59466. Ref.2
	Sequence conflict	119 – 121	3	AGG → LC in AAA59466. Ref.2
	Sequence conflict	159 – 160	2	VR → IG in AAA59466. Ref.2
	Sequence conflict	255	1	D → V in AAA59466. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	P04259 [UniParc]. Last modified May 26, 2009. Version 5. Checksum: FFA4C351FBF09F09	FASTA	564	60,067
	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

References

	« Hide 'large scale' referencesShow '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. , 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, 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.

Web resources

Human Intermediate Filament Mutation Database

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	L42592 , L42584, L42585, L42586, L42587, L42588, L42589, L42590 Genomic DNA. Translation: AAC41768.1. L42612 mRNA. Translation: AAC41771.1. L00205 , M11229, L00198, L00199, L00200, L00201, L00202, L00203, L00204 Genomic DNA. Translation: AAA59466.1. AC055736 Genomic DNA. No translation available. BC034535 mRNA. Translation: AAH34535.1.
IPI	IPI00293665.
PIR	KRHUEB. I61767. I61771.
RefSeq	NP_005546.2. NM_005555.3.
UniGene	Hs.708950.
3D structure databases
ProteinModelPortal	P04259.
ModBase	Search...
Protein-protein interaction databases
IntAct	P04259. 6 interactions.
MINT	MINT-1456452.
STRING	9606.ENSP00000252252.
PTM databases
PhosphoSite	P04259.
Polymorphism databases
DMDM	238054404.
Proteomic databases
PaxDb	P04259.
PRIDE	P04259.
Protocols and materials databases
DNASU	3854.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000252252; ENSP00000252252; ENSG00000185479.
GeneID	3854.
KEGG	hsa:3854.
UCSC	uc001sak.3. human.
Organism-specific databases
CTD	3854.
GeneCards	GC12M052840.
HGNC	HGNC:6444. KRT6B.
HPA	CAB000130. HPA045697.
MIM	148042. gene. 167210. phenotype.
neXtProt	NX_P04259.
Orphanet	2309. Pachyonychia congenita.
PharmGKB	PA30232.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG315845.
HOGENOM	HOG000230976.
HOVERGEN	HBG013015.
InParanoid	P04259.
KO	K07605.
OMA	QLDNIVG.
OrthoDB	EOG4P8FJ6.
PhylomeDB	P04259.
Gene expression databases
Bgee	P04259.
CleanEx	HS_KRT6B.
Genevestigator	P04259.
GermOnline	ENSG00000185479. 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
GenomeRNAi	3854.
NextBio	15165.
SOURCE	Search...

Entry information

Entry name

K2C6B_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 135 of the entry and version 5 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.