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P12035 (K2C3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 138. 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 3
Alternative name(s):
65 kDa cytokeratin
Cytokeratin-3
Short name=CK-3
Keratin-3
Short name=K3
Type-II keratin Kb3
Gene names
Name:KRT3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length628 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Subunit structure

Heterotetramer of two type I and two type II keratins. Keratin-3 associates with keratin-12.

Tissue specificity

Cornea specific.

Involvement in disease

Corneal dystrophy, Meesmann (MECD) [MIM:122100]: An autosomal dominant corneal disease characterized by fragility of the anterior corneal epithelium. Patients are usually asymptomatic until adulthood when rupture of the corneal microcysts may cause erosions, producing clinical symptoms such as photophobia, contact lens intolerance and intermittent diminution of visual acuity. Rarely, subepithelial scarring causes irregular corneal astigmatism and permanent visual impairment. Histological examination shows a disorganized and thickened epithelium with widespread cytoplasmic vacuolation and numerous small, round, debris-laden intraepithelial cysts.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4 Ref.5

Miscellaneous

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

Sequence similarities

Belongs to the intermediate filament family.

Sequence caution

The sequence CAF31522.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 628628Keratin, type II cytoskeletal 3
PRO_0000063716

Regions

Region1 – 197197Head
Region198 – 509312Rod
Region198 – 23336Coil 1A
Region234 – 25421Linker 1
Region255 – 34692Coil 1B
Region347 – 37024Linker 12
Region371 – 509139Coil 2
Region510 – 628119Tail
Compositional bias10 – 169160Gly-rich
Compositional bias536 – 61277Gly-rich

Natural variations

Natural variant441G → A.
Corresponds to variant rs28721426 [ dbSNP | Ensembl ].
VAR_061297
Natural variant3751R → G. Ref.1
Corresponds to variant rs3887954 [ dbSNP | Ensembl ].
VAR_056023
Natural variant5031R → P in MECD. Ref.5
Corresponds to variant rs60410063 [ dbSNP | Ensembl ].
VAR_031327
Natural variant5091E → K in MECD. Ref.4
Corresponds to variant rs57872071 [ dbSNP | Ensembl ].
VAR_003868

Experimental info

Sequence conflict1621G → A in CAA28991. Ref.1
Sequence conflict1751I → T in CAA28991. Ref.1
Sequence conflict1841N → K in CAA28991. Ref.1
Sequence conflict1871I → T in CAA28991. Ref.1
Sequence conflict2981T → Y in CAA28993. Ref.1
Sequence conflict3971L → M in CAA28996. Ref.1
Sequence conflict4091D → G in CAF31522. Ref.3
Sequence conflict4481E → Q in CAA28996. Ref.1
Sequence conflict5111Y → YS in CAA28996. Ref.1
Sequence conflict5621S → I in CAA28996. Ref.1
Sequence conflict5801S → T in CAA28996. Ref.1

Sequences

Sequence LengthMass (Da)Tools
P12035 [UniParc].

Last modified November 30, 2010. Version 3.
Checksum: 65FDB8CAA7F3C960

FASTA62864,417
        10         20         30         40         50         60 
MSRQASKTSG GGSQGFSGRS AVVSGSSRMS CVAHSGGAGG GAYGFRSGAG GFGSRSLYNL 

        70         80         90        100        110        120 
GGNKSISISV AAGGSRAGGF GGGRSSCAFA GGYGGGFGSG YGGGFGGGFG GGRGMGGGFG 

       130        140        150        160        170        180 
GAGGFGGAGG FGGAGGFGGP GGFGGSGGFG GPGSLGSPGG FGPGGFPGGI QEVTINQSLL 

       190        200        210        220        230        240 
QPLNVEIDPQ IGQVKAQERE QIKTLNNKFA SFIDKVRFLE QQNKVLETKW NLLQQQGTSS 

       250        260        270        280        290        300 
ISGTNNLEPL FENHINYLRS YLDNILGERG RLDSELKNME DLVEDFKKKY EDEINKRTAA 

       310        320        330        340        350        360 
ENEFVTLKKD VDSAYMNKVE LQAKVDALID EIDFLRTLYD AELSQMQSHI SDTSVVLSMD 

       370        380        390        400        410        420 
NNRSLDLDSI IAEVRAQYED IAQRSKAEAE ALYQTKLGEL QTTAGRHGDD LRNTKSEIIE 

       430        440        450        460        470        480 
LNRMIQRLRA EIEGVKKQNA NLQTAIAEAE QHGEMALKDA NAKLQELQAA LQQAKDDLAR 

       490        500        510        520        530        540 
LLRDYQELMN VKLALDVEIA TYRKLLEGEE YRMSGECPSA VSISVVSSST TSASAGGYGG 

       550        560        570        580        590        600 
GYGGGMGGGL GGGFSAGGGS GSGFGRGGGG GIGGGFGGGS SGFSGGSGFG SISGARYGVS 

       610        620 
GGGFSSASNR GGSIKFSQSS QSSQRYSR 

« Hide

References

« Hide 'large scale' references
[1]"Evolution of keratin genes: different protein domains evolve by different pathways."
Klinge E.M., Sylvestre Y.R., Freedberg I.M., Blumenberg M.
J. Mol. Evol. 24:319-329(1987) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT GLY-375.
[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. 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].
[3]"Characterization of new members of the human type II keratin gene family and a general evaluation of the keratin gene domain on chromosome 12q13.13."
Rogers M.A., Edler L., Winter H., Langbein L., Beckmann I., Schweizer J.
J. Invest. Dermatol. 124:536-544(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 16-628.
Tissue: Eye.
[4]"Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy."
Irvine A.D., Corden L.D., Swensson O., Swensson B., Moore J.E., Frazer D.G., Smith F.J.D., Knowlton R.G., Christophers E., Rochels R., Uitto J., McLean W.H.I.
Nat. Genet. 16:184-187(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MECD LYS-509.
[5]"Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy."
Chen Y.T., Tseng S.H., Chao S.C.
Cornea 24:928-932(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MECD PRO-503.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X05418 Genomic DNA. Translation: CAA28991.1.
X05419 Genomic DNA. Translation: CAA28992.1.
X05420 Genomic DNA. Translation: CAA28993.1.
X05420 Genomic DNA. Translation: CAA28994.1.
X05420 Genomic DNA. Translation: CAA28995.1.
X05421 Genomic DNA. Translation: CAA28996.1.
AC107016 Genomic DNA. No translation available.
AJ628418 mRNA. Translation: CAF31522.1. Different initiation.
PIRA29666.
RefSeqNP_476429.2. NM_057088.2.
UniGeneHs.680652.

3D structure databases

ProteinModelPortalP12035.
SMRP12035. Positions 197-339, 366-508.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110048. 14 interactions.
IntActP12035. 3 interactions.
STRING9606.ENSP00000413479.

PTM databases

PhosphoSiteP12035.

Polymorphism databases

DMDM313104225.

Proteomic databases

PaxDbP12035.
PRIDEP12035.

Protocols and materials databases

DNASU3850.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000417996; ENSP00000413479; ENSG00000186442.
GeneID3850.
KEGGhsa:3850.
UCSCuc001say.3. human.

Organism-specific databases

CTD3850.
GeneCardsGC12M053183.
H-InvDBHIX0036742.
HGNCHGNC:6440. KRT3.
MIM122100. phenotype.
148043. gene.
neXtProtNX_P12035.
Orphanet98954. Meesmann corneal dystrophy.
PharmGKBPA30228.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG146968.
HOGENOMHOG000230976.
HOVERGENHBG013015.
InParanoidP12035.
KOK07605.
OrthoDBEOG7FV3Q8.
PhylomeDBP12035.
TreeFamTF332742.

Gene expression databases

ArrayExpressP12035.
BgeeP12035.
CleanExHS_KRT3.
GenevestigatorP12035.

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

GeneWikiKeratin_3.
GenomeRNAi3850.
NextBio15149.
PROP12035.
SOURCESearch...

Entry information

Entry nameK2C3_HUMAN
AccessionPrimary (citable) accession number: P12035
Secondary accession number(s): A6NIS2, Q701L8
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1989
Last sequence update: November 30, 2010
Last modified: April 16, 2014
This is version 138 of the entry and version 3 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