Q99456 · K1C12_HUMAN
- ProteinKeratin, type I cytoskeletal 12
- GeneKRT12
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids494 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Involved in corneal epithelium organization, integrity and corneal keratin expression.
Miscellaneous
There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa).
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | cytoskeleton | |
Cellular Component | cytosol | |
Cellular Component | extracellular exosome | |
Cellular Component | intermediate filament | |
Molecular Function | structural molecule activity | |
Biological Process | cornea development in camera-type eye | |
Biological Process | epithelial cell differentiation | |
Biological Process | intermediate filament organization | |
Biological Process | morphogenesis of an epithelium | |
Biological Process | visual perception |
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameKeratin, type I cytoskeletal 12
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ99456
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Corneal dystrophy, Meesmann 1 (MECD1)
- Note
- DescriptionA form of Meesmann corneal dystrophy, a corneal disease characterized by fragility of the anterior corneal epithelium. Histological examination shows a disorganized and thickened epithelium with widespread cytoplasmic vacuolation and numerous small, round, debris-laden intraepithelial cysts. 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. MECD1 inheritance is autosomal dominant.
- See alsoMIM:122100
Natural variants in MECD1
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_013126 | 129 | M>T | in MECD1; dbSNP:rs28936695 | |
VAR_072069 | 129 | M>V | in MECD1; dbSNP:rs267607387 | |
VAR_013127 | 130 | Q>P | in MECD1; dbSNP:rs58864803 | |
VAR_072070 | 132 | L>P | in MECD1; increased expression of keratins KRT5, KRT6, KRT14 and KRT16 and decreased expression of KRT12 in the corneal epithelium; increased expression of DDIT3/CHOP and CASP12 in the corneal epithelium indicative of up-regulation of the unfolded protein response.; dbSNP:rs886038212 | |
VAR_083313 | 132 | L>V | in MECD1 | |
VAR_008526 | 135 | R>G | in MECD1; dbSNP:rs58410481 | |
VAR_008525 | 135 | R>I | in MECD1; dbSNP:rs57218384 | |
VAR_031394 | 135 | R>S | in MECD1; dbSNP:rs61282718 | |
VAR_003834 | 135 | R>T | in MECD1; dbSNP:rs57218384 | |
VAR_031395 | 137 | A>P | in MECD1; dbSNP:rs58038639 | |
VAR_072071 | 140 | L>Q | in MECD1 | |
VAR_008527 | 140 | L>R | in MECD1; dbSNP:rs58918655 | |
VAR_003835 | 143 | V>L | in MECD1; dbSNP:rs58343600 | |
VAR_083314 | 248 | D>N | in MECD1; uncertain significance; dbSNP:rs150674571 | |
VAR_031396 | 399 | L>LISNLEAQLL | in MECD1 | |
VAR_031397 | 426 | I>S | in MECD1; dbSNP:rs59350319 | |
VAR_083315 | 426 | I>V | in MECD1; uncertain significance; dbSNP:rs59465138 | |
VAR_031398 | 429 | Y>C | in MECD1; dbSNP:rs59202432 | |
VAR_008528 | 429 | Y>D | in MECD1; dbSNP:rs58162394 | |
VAR_072072 | 430 | R>P | in MECD1; dbSNP:rs62635290 | |
VAR_072073 | 433 | L>R | in MECD1; dbSNP:rs267607386 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_049783 | 15 | in dbSNP:rs11650915 | |||
Sequence: P → S | ||||||
Natural variant | VAR_009547 | 20 | in dbSNP:rs17566772 | |||
Sequence: R → W | ||||||
Natural variant | VAR_013126 | 129 | in MECD1; dbSNP:rs28936695 | |||
Sequence: M → T | ||||||
Natural variant | VAR_072069 | 129 | in MECD1; dbSNP:rs267607387 | |||
Sequence: M → V | ||||||
Natural variant | VAR_013127 | 130 | in MECD1; dbSNP:rs58864803 | |||
Sequence: Q → P | ||||||
Natural variant | VAR_072070 | 132 | in MECD1; increased expression of keratins KRT5, KRT6, KRT14 and KRT16 and decreased expression of KRT12 in the corneal epithelium; increased expression of DDIT3/CHOP and CASP12 in the corneal epithelium indicative of up-regulation of the unfolded protein response.; dbSNP:rs886038212 | |||
Sequence: L → P | ||||||
Natural variant | VAR_083313 | 132 | in MECD1 | |||
Sequence: L → V | ||||||
Natural variant | VAR_008526 | 135 | in MECD1; dbSNP:rs58410481 | |||
Sequence: R → G | ||||||
Natural variant | VAR_008525 | 135 | in MECD1; dbSNP:rs57218384 | |||
Sequence: R → I | ||||||
Natural variant | VAR_031394 | 135 | in MECD1; dbSNP:rs61282718 | |||
Sequence: R → S | ||||||
Natural variant | VAR_003834 | 135 | in MECD1; dbSNP:rs57218384 | |||
Sequence: R → T | ||||||
Natural variant | VAR_031395 | 137 | in MECD1; dbSNP:rs58038639 | |||
Sequence: A → P | ||||||
Natural variant | VAR_072071 | 140 | in MECD1 | |||
Sequence: L → Q | ||||||
Natural variant | VAR_008527 | 140 | in MECD1; dbSNP:rs58918655 | |||
Sequence: L → R | ||||||
Natural variant | VAR_003835 | 143 | in MECD1; dbSNP:rs58343600 | |||
Sequence: V → L | ||||||
Natural variant | VAR_083314 | 248 | in MECD1; uncertain significance; dbSNP:rs150674571 | |||
Sequence: D → N | ||||||
Natural variant | VAR_031396 | 399 | in MECD1 | |||
Sequence: L → LISNLEAQLL | ||||||
Natural variant | VAR_031397 | 426 | in MECD1; dbSNP:rs59350319 | |||
Sequence: I → S | ||||||
Natural variant | VAR_083315 | 426 | in MECD1; uncertain significance; dbSNP:rs59465138 | |||
Sequence: I → V | ||||||
Natural variant | VAR_031398 | 429 | in MECD1; dbSNP:rs59202432 | |||
Sequence: Y → C | ||||||
Natural variant | VAR_008528 | 429 | in MECD1; dbSNP:rs58162394 | |||
Sequence: Y → D | ||||||
Natural variant | VAR_072072 | 430 | in MECD1; dbSNP:rs62635290 | |||
Sequence: R → P | ||||||
Natural variant | VAR_072073 | 433 | in MECD1; dbSNP:rs267607386 | |||
Sequence: L → R |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 972 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
PTM/Processing
Features
Showing features for chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000063644 | 1-494 | Keratin, type I cytoskeletal 12 | |||
Sequence: MDLSNNTMSLSVRTPGLSRRLSSQSVIGRPRGMSASSVGSGYGGSAFGFGASCGGGFSAASMFGSSSGFGGGSGSSMAGGLGAGYGRALGGGSFGGLGMGFGGSPGGGSLGILSGNDGGLLSGSEKETMQNLNDRLASYLDKVRALEEANTELENKIREWYETRGTGTADASQSDYSKYYPLIEDLRNKIISASIGNAQLLLQIDNARLAAEDFRMKYENELALRQGVEADINGLRRVLDELTLTRTDLEMQIESLNEELAYMKKNHEDELQSFRVGGPGEVSVEMDAAPGVDLTRLLNDMRAQYETIAEQNRKDAEAWFIEKSGELRKEISTNTEQLQSSKSEVTDLRRAFQNLEIELQSQLAMKKSLEDSLAEAEGDYCAQLSQVQQLISNLEAQLLQVRADAERQNVDHQRLLNVKARLELEIETYRRLLDGEAQGDGLEESLFVTDSKSQAQSTDSSKDPTKTRKIKTVVQEMVNGEVVSSQVQEIEELM |
Proteomic databases
PTM databases
Expression
Tissue specificity
Expressed in the corneal epithelium (at protein level).
Gene expression databases
Organism-specific databases
Structure
Family & Domains
Features
Showing features for compositional bias, region, domain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Compositional bias | 1-31 | Polar residues | ||||
Sequence: MDLSNNTMSLSVRTPGLSRRLSSQSVIGRPR | ||||||
Region | 1-32 | Disordered | ||||
Sequence: MDLSNNTMSLSVRTPGLSRRLSSQSVIGRPRG | ||||||
Region | 1-124 | Head | ||||
Sequence: MDLSNNTMSLSVRTPGLSRRLSSQSVIGRPRGMSASSVGSGYGGSAFGFGASCGGGFSAASMFGSSSGFGGGSGSSMAGGLGAGYGRALGGGSFGGLGMGFGGSPGGGSLGILSGNDGGLLSGS | ||||||
Region | 125-160 | Coil 1A | ||||
Sequence: EKETMQNLNDRLASYLDKVRALEEANTELENKIREW | ||||||
Domain | 125-440 | IF rod | ||||
Sequence: EKETMQNLNDRLASYLDKVRALEEANTELENKIREWYETRGTGTADASQSDYSKYYPLIEDLRNKIISASIGNAQLLLQIDNARLAAEDFRMKYENELALRQGVEADINGLRRVLDELTLTRTDLEMQIESLNEELAYMKKNHEDELQSFRVGGPGEVSVEMDAAPGVDLTRLLNDMRAQYETIAEQNRKDAEAWFIEKSGELRKEISTNTEQLQSSKSEVTDLRRAFQNLEIELQSQLAMKKSLEDSLAEAEGDYCAQLSQVQQLISNLEAQLLQVRADAERQNVDHQRLLNVKARLELEIETYRRLLDGEAQGD | ||||||
Region | 164-182 | Linker 1 | ||||
Sequence: RGTGTADASQSDYSKYYPL | ||||||
Region | 183-274 | Coil 1B | ||||
Sequence: IEDLRNKIISASIGNAQLLLQIDNARLAAEDFRMKYENELALRQGVEADINGLRRVLDELTLTRTDLEMQIESLNEELAYMKKNHEDELQSF | ||||||
Region | 275-297 | Linker 12 | ||||
Sequence: RVGGPGEVSVEMDAAPGVDLTRL | ||||||
Region | 298-435 | Coil 2 | ||||
Sequence: LNDMRAQYETIAEQNRKDAEAWFIEKSGELRKEISTNTEQLQSSKSEVTDLRRAFQNLEIELQSQLAMKKSLEDSLAEAEGDYCAQLSQVQQLISNLEAQLLQVRADAERQNVDHQRLLNVKARLELEIETYRRLLDG | ||||||
Region | 436-494 | Tail | ||||
Sequence: EAQGDGLEESLFVTDSKSQAQSTDSSKDPTKTRKIKTVVQEMVNGEVVSSQVQEIEELM | ||||||
Region | 446-468 | Disordered | ||||
Sequence: LFVTDSKSQAQSTDSSKDPTKTR | ||||||
Compositional bias | 447-461 | Polar residues | ||||
Sequence: FVTDSKSQAQSTDSS |
Sequence similarities
Belongs to the intermediate filament family.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Length494
- Mass (Da)53,511
- Last updated1997-05-01 v1
- Checksum75C981380532B682
Computationally mapped potential isoform sequences
There is 1 potential isoform mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
A0A3B3ITG2 | A0A3B3ITG2_HUMAN | KRT12 | 206 |
Features
Showing features for compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Compositional bias | 1-31 | Polar residues | ||||
Sequence: MDLSNNTMSLSVRTPGLSRRLSSQSVIGRPR | ||||||
Compositional bias | 447-461 | Polar residues | ||||
Sequence: FVTDSKSQAQSTDSS |
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
D78367 EMBL· GenBank· DDBJ | BAA11376.1 EMBL· GenBank· DDBJ | mRNA | ||
AB007119 EMBL· GenBank· DDBJ | BAA25063.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF137286 EMBL· GenBank· DDBJ | AAF61432.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AK313747 EMBL· GenBank· DDBJ | BAG36487.1 EMBL· GenBank· DDBJ | mRNA | ||
CH471152 EMBL· GenBank· DDBJ | EAW60685.1 EMBL· GenBank· DDBJ | Genomic DNA |