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P48668

- K2C6C_HUMAN

UniProt

P48668 - K2C6C_HUMAN

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Protein

Keratin, type II cytoskeletal 6C

Gene

KRT6C

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei414 – 4141Stutter

GO - Molecular functioni

  1. structural molecule activity Source: InterPro

GO - Biological processi

  1. intermediate filament cytoskeleton organization Source: UniProt
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Keratin, type II cytoskeletal 6C
Alternative name(s):
Cytokeratin-6C
Short name:
CK-6C
Cytokeratin-6E
Short name:
CK-6E
Keratin K6h
Keratin-6C
Short name:
K6C
Type-II keratin Kb12
Gene namesi
Name:KRT6C
Synonyms:KRT6E
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:20406. KRT6C.

Subcellular locationi

GO - Cellular componenti

  1. extracellular vesicular exosome Source: UniProtKB
  2. intermediate filament Source: UniProtKB
  3. keratin filament Source: InterPro
Complete GO annotation...

Keywords - Cellular componenti

Intermediate filament, Keratin

Pathology & Biotechi

Involvement in diseasei

Palmoplantar keratoderma, non-epidermolytic, focal or diffuse (PPKNEFD) [MIM:615735]: A dermatological disorder characterized by non-epidermolytic abnormal thickening of the skin on the palms and soles. Diffuse palmoplantar keratoderma is characterized by uniform involvement of the palmoplantar surface, while the focal form consists of localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction.3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti172 – 1721Missing in PPKNEFD; unknown pathological significance. 1 Publication
VAR_071308
Natural varianti472 – 4721E → K in PPKNEFD; collapsed of the keratin filament network in a dose-dependent manner. 2 Publications
VAR_071309

Keywords - Diseasei

Disease mutation, Palmoplantar keratoderma

Organism-specific databases

MIMi615735. phenotype.
Orphaneti402003. Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering.
PharmGKBiPA134891227.

Protein family/group databases

Allergomei415. Hom s 5.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed1 Publication
Chaini2 – 564563Keratin, type II cytoskeletal 6CPRO_0000063735Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanine1 Publication
Modified residuei60 – 601Phosphoserine1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiP48668.
PaxDbiP48668.
PRIDEiP48668.

PTM databases

PhosphoSiteiP48668.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiP48668.
CleanExiHS_KRT6C.
GenevestigatoriP48668.

Organism-specific databases

HPAiHPA045697.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi130423. 10 interactions.
IntActiP48668. 4 interactions.

Structurei

3D structure databases

ProteinModelPortaliP48668.
SMRiP48668. Positions 160-302, 329-471.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni2 – 162161HeadAdd
BLAST
Regioni163 – 472310RodAdd
BLAST
Regioni163 – 19836Coil 1AAdd
BLAST
Regioni199 – 21719Linker 1Add
BLAST
Regioni218 – 30992Coil 1BAdd
BLAST
Regioni310 – 33324Linker 12Add
BLAST
Regioni334 – 472139Coil 2Add
BLAST
Regioni473 – 56492TailAdd
BLAST

Sequence similaritiesi

Belongs to the intermediate filament family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG315845.
GeneTreeiENSGT00760000118796.
HOGENOMiHOG000230976.
HOVERGENiHBG013015.
InParanoidiP48668.
KOiK07605.
OMAiTEINRMI.
OrthoDBiEOG7FV3Q8.
PhylomeDBiP48668.
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.

Sequence processingi: The displayed sequence is further processed into a mature form.

P48668-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MASTSTTIRS HSSSRRGFSA NSARLPGVSR SGFSSISVSR SRGSGGLGGA
60 70 80 90 100
CGGAGFGSRS LYGLGGSKRI SIGGGSCAIS GGYGSRAGGS YGFGGAGSGF
110 120 130 140 150
GFGGGAGIGF GLGGGAGLAG GFGGPGFPVC PPGGIQEVTV NQSLLTPLNL
160 170 180 190 200
QIDPAIQRVR AEEREQIKTL NNKFASFIDK VRFLEQQNKV LDTKWTLLQE
210 220 230 240 250
QGTKTVRQNL EPLFEQYINN LRRQLDSIVG ERGRLDSELR NMQDLVEDLK
260 270 280 290 300
NKYEDEINKR TAAENEFVTL KKDVDAAYMN KVELQAKADT LTDEINFLRA
310 320 330 340 350
LYDAELSQMQ THISDTSVVL SMDNNRNLDL DSIIAEVKAQ YEEIAQRSRA
360 370 380 390 400
EAESWYQTKY EELQVTAGRH GDDLRNTKQE IAEINRMIQR LRSEIDHVKK
410 420 430 440 450
QCASLQAAIA DAEQRGEMAL KDAKNKLEGL EDALQKAKQD LARLLKEYQE
460 470 480 490 500
LMNVKLALDV EIATYRKLLE GEECRLNGEG VGQVNVSVVQ STISSGYGGA
510 520 530 540 550
SGVGSGLGLG GGSSYSYGSG LGIGGGFSSS SGRAIGGGLS SVGGGSSTIK
560
YTTTSSSSRK SYKH
Length:564
Mass (Da):60,025
Last modified:January 23, 2007 - v3
Checksum:iFABEABD829A75612
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti88 – 881G → R in AAC41770. (PubMed:7543104)Curated
Sequence conflicti88 – 881G → R in AAC41769. (PubMed:7543104)Curated
Sequence conflicti89 – 891G → A in AAC41769. (PubMed:7543104)Curated
Sequence conflicti111 – 1111G → D in AAC41770. (PubMed:7543104)Curated
Sequence conflicti111 – 1111G → D in AAC41769. (PubMed:7543104)Curated
Sequence conflicti192 – 1921D → E in AAC41769. (PubMed:7543104)Curated
Sequence conflicti241 – 2411N → G in AAC41769. (PubMed:7543104)Curated
Sequence conflicti249 – 2491L → F in AAC41769. (PubMed:7543104)Curated
Sequence conflicti404 – 4041S → N in AAC41769. (PubMed:7543104)Curated
Sequence conflicti486 – 4861V → I in AAC41769. (PubMed:7543104)Curated
Sequence conflicti493 – 4931I → V in AAC41769. (PubMed:7543104)Curated
Sequence conflicti523 – 5231I → V in AAC41769. (PubMed:7543104)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti172 – 1721Missing in PPKNEFD; unknown pathological significance. 1 Publication
VAR_071308
Natural varianti182 – 1821R → Q.1 Publication
Corresponds to variant rs11608915 [ dbSNP | Ensembl ].
VAR_035031
Natural varianti227 – 2271S → N.1 Publication
Corresponds to variant rs17099602 [ dbSNP | Ensembl ].
VAR_035032
Natural varianti472 – 4721E → K in PPKNEFD; collapsed of the keratin filament network in a dose-dependent manner. 2 Publications
VAR_071309
Natural varianti481 – 4811V → I.1 Publication
Corresponds to variant rs412533 [ dbSNP | Ensembl ].
VAR_035033

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L42611 mRNA. Translation: AAC41770.1.
L42601
, L42593, L42594, L42595, L42596, L42597, L42598, L42599 Genomic DNA. Translation: AAC41769.1.
AC055736 Genomic DNA. No translation available.
BC110639 mRNA. Translation: AAI10640.1.
BC130583 mRNA. Translation: AAI30584.1.
BC130585 mRNA. Translation: AAI30586.1.
BK000962 Genomic DNA. Translation: DAA01484.1.
CCDSiCCDS8829.1.
PIRiI61768.
I61770.
RefSeqiNP_775109.2. NM_173086.4.
UniGeneiHs.700779.
Hs.709234.

Genome annotation databases

EnsembliENST00000252250; ENSP00000252250; ENSG00000170465.
GeneIDi286887.
KEGGihsa:286887.
UCSCiuc001sal.4. human.

Polymorphism databases

DMDMi59803089.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L42611 mRNA. Translation: AAC41770.1 .
L42601
, L42593 , L42594 , L42595 , L42596 , L42597 , L42598 , L42599 Genomic DNA. Translation: AAC41769.1 .
AC055736 Genomic DNA. No translation available.
BC110639 mRNA. Translation: AAI10640.1 .
BC130583 mRNA. Translation: AAI30584.1 .
BC130585 mRNA. Translation: AAI30586.1 .
BK000962 Genomic DNA. Translation: DAA01484.1 .
CCDSi CCDS8829.1.
PIRi I61768.
I61770.
RefSeqi NP_775109.2. NM_173086.4.
UniGenei Hs.700779.
Hs.709234.

3D structure databases

ProteinModelPortali P48668.
SMRi P48668. Positions 160-302, 329-471.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 130423. 10 interactions.
IntActi P48668. 4 interactions.

Protein family/group databases

Allergomei 415. Hom s 5.

PTM databases

PhosphoSitei P48668.

Polymorphism databases

DMDMi 59803089.

Proteomic databases

MaxQBi P48668.
PaxDbi P48668.
PRIDEi P48668.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000252250 ; ENSP00000252250 ; ENSG00000170465 .
GeneIDi 286887.
KEGGi hsa:286887.
UCSCi uc001sal.4. human.

Organism-specific databases

CTDi 286887.
GeneCardsi GC12M052865.
HGNCi HGNC:20406. KRT6C.
HPAi HPA045697.
MIMi 612315. gene.
615735. phenotype.
neXtProti NX_P48668.
Orphaneti 402003. Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering.
PharmGKBi PA134891227.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG315845.
GeneTreei ENSGT00760000118796.
HOGENOMi HOG000230976.
HOVERGENi HBG013015.
InParanoidi P48668.
KOi K07605.
OMAi TEINRMI.
OrthoDBi EOG7FV3Q8.
PhylomeDBi P48668.
TreeFami TF317854.

Miscellaneous databases

GenomeRNAii 286887.
NextBioi 96315.
PROi P48668.
SOURCEi Search...

Gene expression databases

Bgeei P48668.
CleanExi HS_KRT6C.
Genevestigatori P48668.

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. "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 / MRNA], VARIANTS ASN-227 AND ILE-481.
    Tissue: Skin.
  2. "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].
  3. "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], VARIANT GLN-182.
    Tissue: Skin.
  4. 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; 208-222; 224-369; 376-386; 425-436; 456-475 AND 534-550, CLEAVAGE OF INITIATOR METHIONINE, ACETYLATION AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY.
    Tissue: Lung carcinoma.
  5. "Genes for intermediate filament proteins and the draft sequence of the human genome: novel keratin genes and a surprisingly high number of pseudogenes related to keratin genes 8 and 18."
    Hesse M., Magin T.M., Weber K.
    J. Cell Sci. 114:2569-2575(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION.
  6. "Phosphorylation of human keratin 8 in vivo at conserved head domain serine 23 and at epidermal growth factor-stimulated tail domain serine 431."
    Ku N.-O., Omary M.B.
    J. Biol. Chem. 272:7556-7564(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION AT SER-60.
  7. Cited for: INVOLVEMENT IN PPKNEFD, VARIANT PPKNEFD ASN-172 DEL.
  8. "Diffuse and focal palmoplantar keratoderma can be caused by a keratin 6c mutation."
    Akasaka E., Nakano H., Nakano A., Toyomaki Y., Takiyoshi N., Rokunohe D., Nishikawa Y., Korekawa A., Matsuzaki Y., Mitsuhashi Y., Sawamura D.
    Br. J. Dermatol. 165:1290-1292(2011)
    Cited for: INVOLVEMENT IN PPKNEFD, VARIANT PPKNEFD LYS-472.
  9. "Collapse of the keratin filament network through the expression of mutant keratin 6c observed in a case of focal plantar keratoderma."
    Kubo A., Oura Y., Hirano T., Aoyama Y., Sato S., Nakamura K., Takae Y., Amagai M.
    J. Dermatol. 40:553-557(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN PPKNEFD, VARIANT PPKNEFD LYS-472, CHARACTERIZATION OF VARIANT PPKNEFD LYS-472.

Entry informationi

Entry nameiK2C6C_HUMAN
AccessioniPrimary (citable) accession number: P48668
Secondary accession number(s): A1L4L5
, P48666, Q2TAZ9, Q7RTN9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: January 23, 2007
Last modified: October 29, 2014
This is version 133 of the entry and version 3 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 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).

Keywords - Technical termi

Complete proteome, Direct protein sequencing, 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