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Protein

Keratin, type I cytoskeletal 12

Gene

KRT12

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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).By similarity

GO - Molecular functioni

  • structural molecule activity Source: ProtInc

GO - Biological processi

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000108246-MONOMER.
ReactomeiR-HSA-6805567. Keratinization.
R-HSA-6809371. Formation of the cornified envelope.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:6414. KRT12.

Subcellular locationi

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • intermediate filament Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Intermediate filament, Keratin

Pathology & Biotechi

Involvement in diseasei

Corneal dystrophy, Meesmann (MECD)14 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:122100
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_013126129M → T in MECD. 2 PublicationsCorresponds to variant rs28936695dbSNPEnsembl.1
Natural variantiVAR_072069129M → V in MECD. 1 PublicationCorresponds to variant rs267607387dbSNPEnsembl.1
Natural variantiVAR_013127130Q → P in MECD. 1 PublicationCorresponds to variant rs58864803dbSNPEnsembl.1
Natural variantiVAR_072070132L → P in MECD. 1 Publication1
Natural variantiVAR_008526135R → G in MECD. 1 PublicationCorresponds to variant rs58410481dbSNPEnsembl.1
Natural variantiVAR_008525135R → I in MECD. 1 PublicationCorresponds to variant rs57218384dbSNPEnsembl.1
Natural variantiVAR_031394135R → S in MECD. 1 PublicationCorresponds to variant rs61282718dbSNPEnsembl.1
Natural variantiVAR_003834135R → T in MECD. 2 PublicationsCorresponds to variant rs57218384dbSNPEnsembl.1
Natural variantiVAR_031395137A → P in MECD. 1 PublicationCorresponds to variant rs58038639dbSNPEnsembl.1
Natural variantiVAR_072071140L → Q in MECD. 1 Publication1
Natural variantiVAR_008527140L → R in MECD. 1 PublicationCorresponds to variant rs58918655dbSNPEnsembl.1
Natural variantiVAR_003835143V → L in MECD. 2 PublicationsCorresponds to variant rs58343600dbSNPEnsembl.1
Natural variantiVAR_031396399L → LISNLEAQLL in MECD. 1
Natural variantiVAR_031397426I → S in MECD. 1 PublicationCorresponds to variant rs59350319dbSNPEnsembl.1
Natural variantiVAR_031398429Y → C in MECD. 1 PublicationCorresponds to variant rs59202432dbSNPEnsembl.1
Natural variantiVAR_008528429Y → D in MECD. 1 PublicationCorresponds to variant rs58162394dbSNPEnsembl.1
Natural variantiVAR_072072430R → P in MECD. 1 PublicationCorresponds to variant rs62635290dbSNPEnsembl.1
Natural variantiVAR_072073433L → R in MECD. 1 PublicationCorresponds to variant rs267607386dbSNPEnsembl.1

Keywords - Diseasei

Corneal dystrophy, Disease mutation

Organism-specific databases

DisGeNETi3859.
MalaCardsiKRT12.
MIMi122100. phenotype.
OpenTargetsiENSG00000187242.
ENSG00000263243.
Orphaneti98954. Meesmann corneal dystrophy.
PharmGKBiPA30201.

Chemistry databases

DrugBankiDB00400. Griseofulvin.

Polymorphism and mutation databases

BioMutaiKRT12.
DMDMi2497269.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000636441 – 494Keratin, type I cytoskeletal 12Add BLAST494

Proteomic databases

PaxDbiQ99456.
PeptideAtlasiQ99456.
PRIDEiQ99456.

PTM databases

iPTMnetiQ99456.
PhosphoSitePlusiQ99456.
SwissPalmiQ99456.

Expressioni

Tissue specificityi

Cornea specific.1 Publication

Gene expression databases

BgeeiENSG00000187242.
CleanExiHS_KRT12.
GenevisibleiQ99456. HS.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi110057. 2 interactors.
STRINGi9606.ENSP00000251643.

Structurei

3D structure databases

ProteinModelPortaliQ99456.
SMRiQ99456.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 124HeadAdd BLAST124
Regioni125 – 435RodAdd BLAST311
Regioni125 – 160Coil 1AAdd BLAST36
Regioni164 – 182Linker 1Add BLAST19
Regioni183 – 274Coil 1BAdd BLAST92
Regioni275 – 297Linker 12Add BLAST23
Regioni298 – 435Coil 2Add BLAST138
Regioni436 – 494TailAdd BLAST59

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi28 – 123Gly-richAdd BLAST96

Sequence similaritiesi

Belongs to the intermediate filament family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IFTF. Eukaryota.
ENOG410Y9IV. LUCA.
GeneTreeiENSGT00760000118808.
HOGENOMiHOG000230975.
HOVERGENiHBG013015.
InParanoidiQ99456.
KOiK07604.
OMAiGSQNDYS.
OrthoDBiEOG091G087I.
PhylomeDBiQ99456.
TreeFamiTF332742.

Family and domain databases

Gene3Di1.20.1270.60. 1 hit.
InterProiIPR027267. AH/BAR-dom.
IPR001664. IF.
IPR018039. Intermediate_filament_CS.
IPR002957. Keratin_I.
[Graphical view]
PANTHERiPTHR23239. PTHR23239. 1 hit.
PfamiPF00038. Filament. 1 hit.
[Graphical view]
PRINTSiPR01248. TYPE1KERATIN.
SMARTiSM01391. Filament. 1 hit.
[Graphical view]
PROSITEiPS00226. IF. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q99456-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MDLSNNTMSL SVRTPGLSRR LSSQSVIGRP RGMSASSVGS GYGGSAFGFG
60 70 80 90 100
ASCGGGFSAA SMFGSSSGFG GGSGSSMAGG LGAGYGRALG GGSFGGLGMG
110 120 130 140 150
FGGSPGGGSL GILSGNDGGL LSGSEKETMQ NLNDRLASYL DKVRALEEAN
160 170 180 190 200
TELENKIREW YETRGTGTAD ASQSDYSKYY PLIEDLRNKI ISASIGNAQL
210 220 230 240 250
LLQIDNARLA AEDFRMKYEN ELALRQGVEA DINGLRRVLD ELTLTRTDLE
260 270 280 290 300
MQIESLNEEL AYMKKNHEDE LQSFRVGGPG EVSVEMDAAP GVDLTRLLND
310 320 330 340 350
MRAQYETIAE QNRKDAEAWF IEKSGELRKE ISTNTEQLQS SKSEVTDLRR
360 370 380 390 400
AFQNLEIELQ SQLAMKKSLE DSLAEAEGDY CAQLSQVQQL ISNLEAQLLQ
410 420 430 440 450
VRADAERQNV DHQRLLNVKA RLELEIETYR RLLDGEAQGD GLEESLFVTD
460 470 480 490
SKSQAQSTDS SKDPTKTRKI KTVVQEMVNG EVVSSQVQEI EELM
Length:494
Mass (Da):53,511
Last modified:May 1, 1997 - v1
Checksum:i75C981380532B682
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07206815P → S.2 Publications1
Natural variantiVAR_04978315P → S.2 PublicationsCorresponds to variant rs11650915dbSNPEnsembl.1
Natural variantiVAR_00954720R → W.2 PublicationsCorresponds to variant rs17566772dbSNPEnsembl.1
Natural variantiVAR_013126129M → T in MECD. 2 PublicationsCorresponds to variant rs28936695dbSNPEnsembl.1
Natural variantiVAR_072069129M → V in MECD. 1 PublicationCorresponds to variant rs267607387dbSNPEnsembl.1
Natural variantiVAR_013127130Q → P in MECD. 1 PublicationCorresponds to variant rs58864803dbSNPEnsembl.1
Natural variantiVAR_072070132L → P in MECD. 1 Publication1
Natural variantiVAR_008526135R → G in MECD. 1 PublicationCorresponds to variant rs58410481dbSNPEnsembl.1
Natural variantiVAR_008525135R → I in MECD. 1 PublicationCorresponds to variant rs57218384dbSNPEnsembl.1
Natural variantiVAR_031394135R → S in MECD. 1 PublicationCorresponds to variant rs61282718dbSNPEnsembl.1
Natural variantiVAR_003834135R → T in MECD. 2 PublicationsCorresponds to variant rs57218384dbSNPEnsembl.1
Natural variantiVAR_031395137A → P in MECD. 1 PublicationCorresponds to variant rs58038639dbSNPEnsembl.1
Natural variantiVAR_072071140L → Q in MECD. 1 Publication1
Natural variantiVAR_008527140L → R in MECD. 1 PublicationCorresponds to variant rs58918655dbSNPEnsembl.1
Natural variantiVAR_003835143V → L in MECD. 2 PublicationsCorresponds to variant rs58343600dbSNPEnsembl.1
Natural variantiVAR_031396399L → LISNLEAQLL in MECD. 1
Natural variantiVAR_031397426I → S in MECD. 1 PublicationCorresponds to variant rs59350319dbSNPEnsembl.1
Natural variantiVAR_031398429Y → C in MECD. 1 PublicationCorresponds to variant rs59202432dbSNPEnsembl.1
Natural variantiVAR_008528429Y → D in MECD. 1 PublicationCorresponds to variant rs58162394dbSNPEnsembl.1
Natural variantiVAR_072072430R → P in MECD. 1 PublicationCorresponds to variant rs62635290dbSNPEnsembl.1
Natural variantiVAR_072073433L → R in MECD. 1 PublicationCorresponds to variant rs267607386dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Human Intermediate Filament Mutation Database
Wikipedia

Keratin-12 entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliQ99456.
SMRiQ99456.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110057. 2 interactors.
STRINGi9606.ENSP00000251643.

Chemistry databases

DrugBankiDB00400. Griseofulvin.

PTM databases

iPTMnetiQ99456.
PhosphoSitePlusiQ99456.
SwissPalmiQ99456.

Polymorphism and mutation databases

BioMutaiKRT12.
DMDMi2497269.

Proteomic databases

PaxDbiQ99456.
PeptideAtlasiQ99456.
PRIDEiQ99456.

Protocols and materials databases

DNASUi3859.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000251643; ENSP00000251643; ENSG00000187242.
ENST00000572470; ENSP00000459559; ENSG00000263243.
GeneIDi3859.
KEGGihsa:3859.
UCSCiuc002hvk.3. human.

Organism-specific databases

CTDi3859.
DisGeNETi3859.
GeneCardsiKRT12.
HGNCiHGNC:6414. KRT12.
MalaCardsiKRT12.
MIMi122100. phenotype.
601687. gene.
neXtProtiNX_Q99456.
OpenTargetsiENSG00000187242.
ENSG00000263243.
Orphaneti98954. Meesmann corneal dystrophy.
PharmGKBiPA30201.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFTF. Eukaryota.
ENOG410Y9IV. LUCA.
GeneTreeiENSGT00760000118808.
HOGENOMiHOG000230975.
HOVERGENiHBG013015.
InParanoidiQ99456.
KOiK07604.
OMAiGSQNDYS.
OrthoDBiEOG091G087I.
PhylomeDBiQ99456.
TreeFamiTF332742.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000108246-MONOMER.
ReactomeiR-HSA-6805567. Keratinization.
R-HSA-6809371. Formation of the cornified envelope.

Miscellaneous databases

ChiTaRSiKRT12. human.
GeneWikiiKeratin_12.
GenomeRNAii3859.
PROiQ99456.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000187242.
CleanExiHS_KRT12.
GenevisibleiQ99456. HS.

Family and domain databases

Gene3Di1.20.1270.60. 1 hit.
InterProiIPR027267. AH/BAR-dom.
IPR001664. IF.
IPR018039. Intermediate_filament_CS.
IPR002957. Keratin_I.
[Graphical view]
PANTHERiPTHR23239. PTHR23239. 1 hit.
PfamiPF00038. Filament. 1 hit.
[Graphical view]
PRINTSiPR01248. TYPE1KERATIN.
SMARTiSM01391. Filament. 1 hit.
[Graphical view]
PROSITEiPS00226. IF. 1 hit.
[Graphical view]
ProtoNetiSearch...

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: November 30, 2016
This is version 147 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.