KRT12
Keratin, type I cytoskeletal 12
Also known as: K12, K1C12_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q99456
- Gene
- KRT12
- Ensembl
- ENSG00000187242
- Chromosome
- 17
- Canonical length
- 494 aa
- Protein class
- Disease related genes, FDA approved drug targets, Human disease related genes, Plasma proteins, Predicted intracellular proteins
OverviewNCBI Gene
KRT12 encodes the type I intermediate filament chain keratin 12, expressed in corneal epithelia. Mutations in this gene lead to Meesmann corneal dystrophy. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
494 residues, UniProt reviewed canonical sequence.
>Q99456|KRT12
1 MDLSNNTMSL SVRTPGLSRR LSSQSVIGRP RGMSASSVGS GYGGSAFGFG ASCGGGFSAA
61 SMFGSSSGFG GGSGSSMAGG LGAGYGRALG GGSFGGLGMG FGGSPGGGSL GILSGNDGGL
121 LSGSEKETMQ NLNDRLASYL DKVRALEEAN TELENKIREW YETRGTGTAD ASQSDYSKYY
181 PLIEDLRNKI ISASIGNAQL LLQIDNARLA AEDFRMKYEN ELALRQGVEA DINGLRRVLD
241 ELTLTRTDLE MQIESLNEEL AYMKKNHEDE LQSFRVGGPG EVSVEMDAAP GVDLTRLLND
301 MRAQYETIAE QNRKDAEAWF IEKSGELRKE ISTNTEQLQS SKSEVTDLRR AFQNLEIELQ
361 SQLAMKKSLE DSLAEAEGDY CAQLSQVQQL ISNLEAQLLQ VRADAERQNV DHQRLLNVKA
421 RLELEIETYR RLLDGEAQGD GLEESLFVTD SKSQAQSTDS SKDPTKTRKI KTVVQEMVNG
481 EVVSSQVQEI EELMLocalizationUniProt · AlphaFold · HPA
Whether an antibody against KRT12 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.57
- Highest tissue expression
- 0.9 nTPM
Expression across tissuesHPA
Tissue
- colon: 0.9 nTPM
- small intestine: 0.9 nTPM
- skin: 0.6 nTPM
- duodenum: 0.2 nTPM
- testis: 0.2 nTPM
- adipose tissue: 0 nTPM
Single-cell type
- ocular epithelial cells: 913 nCPM
- retinal pigment epithelial cells: 26 nCPM
- schwann cells: 2.1 nCPM
- early spermatids: 1.6 nCPM
- late spermatids: 1.6 nCPM
- undifferentiated spermatogonia: 0.4 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- white matter: 0.2 nTPM
- amygdala: 0.1 nTPM
- basal ganglia: 0.1 nTPM
- cerebral cortex: 0.1 nTPM
- hippocampal formation: 0.1 nTPM
- hypothalamus: 0.1 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about KRT12.
Disease | AllUniProt
Conditions KRT12 is implicated in, by any mechanism.
- Corneal dystrophy, Meesmann 1 (MECD1) MIM:122100
Disease | GeneticClinVar
10 pathogenic / likely-pathogenic of 105 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Corneal dystrophy, Meesmann, 1
- Inborn genetic diseases
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.32
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.57
- DepMap mean gene effect
- -0.17
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cornea development in camera-type eye
- epithelial cell differentiation
- intermediate filament organization
- morphogenesis of an epithelium
- visual perception
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads KRT12 as an antibody target. Whether an autoantibody or antibody against KRT12 could matter depends on whether native KRT12 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
KRT12 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label KRT12 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...