KRT1 (keratin 1)

2012-08-01  

Identity

HGNC
KRT1
LOCATION
12q13.13
LOCUSID
3848
ALIAS
CK1,EHK,EHK1,EPPK,K1,KRT1A,NEPPK
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3848
MIM: 139350
HGNC: 6412
Ensembl: ENSG00000167768

Variants:

dbSNP: 3848
ClinVar: 3848
TCGA: ENSG00000167768
COSMIC: KRT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167768ENST00000252244P04264

Expression (GTEx)

0
5000
10000
15000
20000
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Developmental BiologyREACTOMER-HSA-1266738
Neutrophil degranulationREACTOMER-HSA-6798695
KeratinizationREACTOMER-HSA-6805567

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
231329312012Keratin 1 maintains skin integrity and participates in an inflammatory network in skin through interleukin-18.40
157974582005Keratins of the human hair follicle.39
186370392009Effects of extracellular calcium on the growth-differentiation switch in immortalized keratinocyte HaCaT cells compared with normal human keratinocytes.38
167898272006Allele-specific KRT1 expression is a complex trait.29
164172212006A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type.15
212719942011Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis.15
256057272015Keratin 1 plays a critical role in golgi localization of core 2 N-acetylglucosaminyltransferase M via interaction with its cytoplasmic tail.14
257744992015Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti.13
295148622018PAWS1 controls Wnt signalling through association with casein kinase 1α.10
265812282016Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis.9

Citation

Dessen P

KRT1 (keratin 1)

Atlas Genet Cytogenet Oncol Haematol. 2012-08-01

Online version: http://atlasgeneticsoncology.org/gene/52837/krt1