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Q99456

- K1C12_HUMAN

UniProt

Q99456 - K1C12_HUMAN

Protein

Keratin, type I cytoskeletal 12

Gene

KRT12

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 125 (01 Oct 2014)
      Sequence version 1 (01 May 1997)
      Previous versions | rss
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    Functioni

    May play a unique role in maintaining the normal corneal epithelial function. Together with KRT3, essential for the maintenance of corneal epithelium integrity By similarity.By similarity

    GO - Molecular functioni

    1. structural molecule activity Source: ProtInc

    GO - Biological processi

    1. visual perception Source: ProtInc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Keratin, type I cytoskeletal 12
    Alternative name(s):
    Cytokeratin-12
    Short name:
    CK-12
    Keratin-12
    Short name:
    K12
    Gene namesi
    Name:KRT12
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:6414. KRT12.

    Subcellular locationi

    GO - Cellular componenti

    1. extracellular vesicular exosome Source: UniProt
    2. intermediate filament Source: UniProtKB-KW

    Keywords - Cellular componenti

    Intermediate filament, Keratin

    Pathology & Biotechi

    Involvement in diseasei

    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.8 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti129 – 1291M → T in MECD. 2 Publications
    Corresponds to variant rs28936695 [ dbSNP | Ensembl ].
    VAR_013126
    Natural varianti130 – 1301Q → P in MECD. 1 Publication
    Corresponds to variant rs58864803 [ dbSNP | Ensembl ].
    VAR_013127
    Natural varianti135 – 1351R → G in MECD. 1 Publication
    Corresponds to variant rs58410481 [ dbSNP | Ensembl ].
    VAR_008526
    Natural varianti135 – 1351R → I in MECD. 1 Publication
    VAR_008525
    Natural varianti135 – 1351R → S in MECD. 1 Publication
    Corresponds to variant rs61282718 [ dbSNP | Ensembl ].
    VAR_031394
    Natural varianti135 – 1351R → T in MECD. 2 Publications
    Corresponds to variant rs57218384 [ dbSNP | Ensembl ].
    VAR_003834
    Natural varianti137 – 1371A → P in MECD. 1 Publication
    Corresponds to variant rs58038639 [ dbSNP | Ensembl ].
    VAR_031395
    Natural varianti140 – 1401L → R in MECD. 1 Publication
    Corresponds to variant rs58918655 [ dbSNP | Ensembl ].
    VAR_008527
    Natural varianti143 – 1431V → L in MECD. 1 Publication
    Corresponds to variant rs58343600 [ dbSNP | Ensembl ].
    VAR_003835
    Natural varianti399 – 3991L → LISNLEAQLL in MECD.
    VAR_031396
    Natural varianti426 – 4261I → S in MECD. 1 Publication
    Corresponds to variant rs59350319 [ dbSNP | Ensembl ].
    VAR_031397
    Natural varianti429 – 4291Y → C in MECD. 1 Publication
    Corresponds to variant rs59202432 [ dbSNP | Ensembl ].
    VAR_031398
    Natural varianti429 – 4291Y → D in MECD. 1 Publication
    Corresponds to variant rs58162394 [ dbSNP | Ensembl ].
    VAR_008528

    Keywords - Diseasei

    Corneal dystrophy, Disease mutation

    Organism-specific databases

    MIMi122100. phenotype.
    Orphaneti98954. Meesmann corneal dystrophy.
    PharmGKBiPA30201.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 494494Keratin, type I cytoskeletal 12PRO_0000063644Add
    BLAST

    Proteomic databases

    PaxDbiQ99456.
    PeptideAtlasiQ99456.
    PRIDEiQ99456.

    PTM databases

    PhosphoSiteiQ99456.

    Expressioni

    Tissue specificityi

    Cornea specific.1 Publication

    Gene expression databases

    BgeeiQ99456.
    CleanExiHS_KRT12.
    GenevestigatoriQ99456.

    Interactioni

    Subunit structurei

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

    Protein-protein interaction databases

    BioGridi110057. 3 interactions.
    STRINGi9606.ENSP00000251643.

    Structurei

    3D structure databases

    ProteinModelPortaliQ99456.
    SMRiQ99456. Positions 179-275, 293-435.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 124124HeadAdd
    BLAST
    Regioni125 – 435311RodAdd
    BLAST
    Regioni125 – 16036Coil 1AAdd
    BLAST
    Regioni164 – 18219Linker 1Add
    BLAST
    Regioni183 – 27492Coil 1BAdd
    BLAST
    Regioni275 – 29723Linker 12Add
    BLAST
    Regioni298 – 435138Coil 2Add
    BLAST
    Regioni436 – 49459TailAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi28 – 12396Gly-richAdd
    BLAST

    Sequence similaritiesi

    Belongs to the intermediate filament family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG148849.
    HOGENOMiHOG000230975.
    HOVERGENiHBG013015.
    InParanoidiQ99456.
    KOiK07604.
    OMAiYETIAEQ.
    OrthoDBiEOG7FV3Q8.
    PhylomeDBiQ99456.
    TreeFamiTF332742.

    Family and domain databases

    InterProiIPR001664. IF.
    IPR018039. Intermediate_filament_CS.
    IPR002957. Keratin_I.
    [Graphical view]
    PANTHERiPTHR23239. PTHR23239. 1 hit.
    PfamiPF00038. Filament. 1 hit.
    [Graphical view]
    PRINTSiPR01248. TYPE1KERATIN.
    PROSITEiPS00226. IF. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q99456-1 [UniParc]FASTAAdd to Basket

    « Hide

    MDLSNNTMSL SVRTPGLSRR LSSQSVIGRP RGMSASSVGS GYGGSAFGFG    50
    ASCGGGFSAA SMFGSSSGFG GGSGSSMAGG LGAGYGRALG GGSFGGLGMG 100
    FGGSPGGGSL GILSGNDGGL LSGSEKETMQ NLNDRLASYL DKVRALEEAN 150
    TELENKIREW YETRGTGTAD ASQSDYSKYY PLIEDLRNKI ISASIGNAQL 200
    LLQIDNARLA AEDFRMKYEN ELALRQGVEA DINGLRRVLD ELTLTRTDLE 250
    MQIESLNEEL AYMKKNHEDE LQSFRVGGPG EVSVEMDAAP GVDLTRLLND 300
    MRAQYETIAE QNRKDAEAWF IEKSGELRKE ISTNTEQLQS SKSEVTDLRR 350
    AFQNLEIELQ SQLAMKKSLE DSLAEAEGDY CAQLSQVQQL ISNLEAQLLQ 400
    VRADAERQNV DHQRLLNVKA RLELEIETYR RLLDGEAQGD GLEESLFVTD 450
    SKSQAQSTDS SKDPTKTRKI KTVVQEMVNG EVVSSQVQEI EELM 494
    Length:494
    Mass (Da):53,511
    Last modified:May 1, 1997 - v1
    Checksum:i75C981380532B682
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti15 – 151P → S.
    Corresponds to variant rs11650915 [ dbSNP | Ensembl ].
    VAR_049783
    Natural varianti20 – 201R → W.1 Publication
    Corresponds to variant rs17566772 [ dbSNP | Ensembl ].
    VAR_009547
    Natural varianti129 – 1291M → T in MECD. 2 Publications
    Corresponds to variant rs28936695 [ dbSNP | Ensembl ].
    VAR_013126
    Natural varianti130 – 1301Q → P in MECD. 1 Publication
    Corresponds to variant rs58864803 [ dbSNP | Ensembl ].
    VAR_013127
    Natural varianti135 – 1351R → G in MECD. 1 Publication
    Corresponds to variant rs58410481 [ dbSNP | Ensembl ].
    VAR_008526
    Natural varianti135 – 1351R → I in MECD. 1 Publication
    VAR_008525
    Natural varianti135 – 1351R → S in MECD. 1 Publication
    Corresponds to variant rs61282718 [ dbSNP | Ensembl ].
    VAR_031394
    Natural varianti135 – 1351R → T in MECD. 2 Publications
    Corresponds to variant rs57218384 [ dbSNP | Ensembl ].
    VAR_003834
    Natural varianti137 – 1371A → P in MECD. 1 Publication
    Corresponds to variant rs58038639 [ dbSNP | Ensembl ].
    VAR_031395
    Natural varianti140 – 1401L → R in MECD. 1 Publication
    Corresponds to variant rs58918655 [ dbSNP | Ensembl ].
    VAR_008527
    Natural varianti143 – 1431V → L in MECD. 1 Publication
    Corresponds to variant rs58343600 [ dbSNP | Ensembl ].
    VAR_003835
    Natural varianti399 – 3991L → LISNLEAQLL in MECD.
    VAR_031396
    Natural varianti426 – 4261I → S in MECD. 1 Publication
    Corresponds to variant rs59350319 [ dbSNP | Ensembl ].
    VAR_031397
    Natural varianti429 – 4291Y → C in MECD. 1 Publication
    Corresponds to variant rs59202432 [ dbSNP | Ensembl ].
    VAR_031398
    Natural varianti429 – 4291Y → D in MECD. 1 Publication
    Corresponds to variant rs58162394 [ dbSNP | Ensembl ].
    VAR_008528

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    D78367 mRNA. Translation: BAA11376.1.
    AB007119 Genomic DNA. Translation: BAA25063.1.
    AF137286 Genomic DNA. Translation: AAF61432.1.
    AK313747 mRNA. Translation: BAG36487.1.
    CH471152 Genomic DNA. Translation: EAW60685.1.
    CCDSiCCDS11378.1.
    RefSeqiNP_000214.1. NM_000223.3.
    UniGeneiHs.66739.

    Genome annotation databases

    EnsembliENST00000251643; ENSP00000251643; ENSG00000187242.
    ENST00000572470; ENSP00000459559; ENSG00000263243.
    GeneIDi3859.
    KEGGihsa:3859.
    UCSCiuc002hvk.2. human.

    Polymorphism databases

    DMDMi2497269.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    Human Intermediate Filament Mutation Database
    Wikipedia

    Keratin-12 entry

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    D78367 mRNA. Translation: BAA11376.1 .
    AB007119 Genomic DNA. Translation: BAA25063.1 .
    AF137286 Genomic DNA. Translation: AAF61432.1 .
    AK313747 mRNA. Translation: BAG36487.1 .
    CH471152 Genomic DNA. Translation: EAW60685.1 .
    CCDSi CCDS11378.1.
    RefSeqi NP_000214.1. NM_000223.3.
    UniGenei Hs.66739.

    3D structure databases

    ProteinModelPortali Q99456.
    SMRi Q99456. Positions 179-275, 293-435.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110057. 3 interactions.
    STRINGi 9606.ENSP00000251643.

    PTM databases

    PhosphoSitei Q99456.

    Polymorphism databases

    DMDMi 2497269.

    Proteomic databases

    PaxDbi Q99456.
    PeptideAtlasi Q99456.
    PRIDEi Q99456.

    Protocols and materials databases

    DNASUi 3859.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000251643 ; ENSP00000251643 ; ENSG00000187242 .
    ENST00000572470 ; ENSP00000459559 ; ENSG00000263243 .
    GeneIDi 3859.
    KEGGi hsa:3859.
    UCSCi uc002hvk.2. human.

    Organism-specific databases

    CTDi 3859.
    GeneCardsi GC17M039017.
    HGNCi HGNC:6414. KRT12.
    MIMi 122100. phenotype.
    601687. gene.
    neXtProti NX_Q99456.
    Orphaneti 98954. Meesmann corneal dystrophy.
    PharmGKBi PA30201.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG148849.
    HOGENOMi HOG000230975.
    HOVERGENi HBG013015.
    InParanoidi Q99456.
    KOi K07604.
    OMAi YETIAEQ.
    OrthoDBi EOG7FV3Q8.
    PhylomeDBi Q99456.
    TreeFami TF332742.

    Miscellaneous databases

    ChiTaRSi KRT12. human.
    GeneWikii Keratin_12.
    GenomeRNAii 3859.
    NextBioi 15185.
    PROi Q99456.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q99456.
    CleanExi HS_KRT12.
    Genevestigatori Q99456.

    Family and domain databases

    InterProi IPR001664. IF.
    IPR018039. Intermediate_filament_CS.
    IPR002957. Keratin_I.
    [Graphical view ]
    PANTHERi PTHR23239. PTHR23239. 1 hit.
    Pfami PF00038. Filament. 1 hit.
    [Graphical view ]
    PRINTSi PR01248. TYPE1KERATIN.
    PROSITEi PS00226. IF. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A gene expression profile of human corneal epithelium and the isolation of human keratin 12 cDNA."
      Nishida K., Adachi W., Shimizu-Matsumoto A., Kinoshita S., Mizuno K., Matsubara K., Okubo K.
      Invest. Ophthalmol. Vis. Sci. 37:1800-1809(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
      Tissue: Cornea.
    2. "Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy."
      Nishida K., Honma Y., Dota A., Kawasaki S., Adachi W., Nakamura T., Quantock A.J., Hosotani H., Yamamoto S., Okada M., Shimomura Y., Kinoshita S.
      Am. J. Hum. Genet. 61:1268-1275(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS MECD GLY-135; ILE-135; ARG-140 AND ASP-429.
    3. "Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene."
      Corden L.D., Swensson O., Swensson B., Smith F.J.D., Rochels R., Uitto J., McLean W.H.I.
      Exp. Eye Res. 70:41-49(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS MECD THR-129 AND THR-135, VARIANT TRP-20.
    4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides."
      Gevaert K., Goethals M., Martens L., Van Damme J., Staes A., Thomas G.R., Vandekerckhove J.
      Nat. Biotechnol. 21:566-569(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 21-31.
      Tissue: Platelet.
    7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    8. Cited for: VARIANTS MECD THR-135 AND LEU-143.
    9. "A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy."
      Corden L.D., Swensson O., Swensson B., Rochels R., Wannke B., Thiel H.J., McLean W.H.I.
      Br. J. Ophthalmol. 84:527-530(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MECD PRO-130.
    10. "Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy."
      Takahashi K., Takahashi K., Murakami A., Okisaka S., Kimura T., Kanai A.
      Jpn. J. Ophthalmol. 46:673-674(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MECD PRO-137.
    11. "A novel arginine substitution mutation in 1A domain and a novel 27 bp insertion mutation in 2B domain of keratin 12 gene associated with Meesmann's corneal dystrophy."
      Yoon M.K., Warren J.F., Holsclaw D.S., Gritz D.C., Margolis T.P.
      Br. J. Ophthalmol. 88:752-756(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MECD SER-135 AND ILE-SER-ASN-LEU-GLU-ALA-GLN-LEU-LEU-399 INS.
    12. "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 CYS-429.
    13. "Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene."
      Nichini O., Manzi V., Munier F.L., Schorderet D.F.
      Ophthalmic Genet. 26:169-173(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MECD THR-129 AND SER-426.

    Entry informationi

    Entry nameiK1C12_HUMAN
    AccessioniPrimary (citable) accession number: Q99456
    Secondary accession number(s): B2R9E0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: May 1, 1997
    Last modified: October 1, 2014
    This is version 125 of the entry and version 1 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 two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa).

    Keywords - Technical termi

    Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 17
      Human chromosome 17: 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