SubmitCancel

Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q99456

- K1C12_HUMAN

UniProt

Q99456 - K1C12_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

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

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.

GO - Molecular functioni

  1. structural molecule activity Source: ProtInc

GO - Biological processi

  1. visual perception Source: ProtInc
Complete GO annotation...

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.8 Publications
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.

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

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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 124 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

Similar proteinsi