KRIT1 (KRIT1 ankyrin repeat containing)

2003-02-01  

Identity

HGNC
KRIT1
LOCATION
7q21.2
LOCUSID
889
ALIAS
CAM,CCM1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 889
MIM: 604214
HGNC: 1573
Ensembl: ENSG00000001631

Variants:

dbSNP: 889
ClinVar: 889
TCGA: ENSG00000001631
COSMIC: KRIT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000001631ENST00000340022O00522
ENSG00000001631ENST00000340022A4D1F7
ENSG00000001631ENST00000394503O00522
ENSG00000001631ENST00000394505O00522
ENSG00000001631ENST00000394505A4D1F7
ENSG00000001631ENST00000394507O00522
ENSG00000001631ENST00000394507A4D1F7
ENSG00000001631ENST00000412043O00522
ENSG00000001631ENST00000412043A4D1F7
ENSG00000001631ENST00000413688C9J3W7
ENSG00000001631ENST00000422347C9JI47
ENSG00000001631ENST00000425073C9JD43
ENSG00000001631ENST00000425919C9JSG7
ENSG00000001631ENST00000430102C9JBN7
ENSG00000001631ENST00000433016C9JF32
ENSG00000001631ENST00000440209C9JEW7
ENSG00000001631ENST00000444960C9JXI9
ENSG00000001631ENST00000445516C9JIY2
ENSG00000001631ENST00000452773C9JJM9
ENSG00000001631ENST00000454017C9J718
ENSG00000001631ENST00000458177A0A0C4DG23
ENSG00000001631ENST00000458493C9JD81

Expression (GTEx)

0
5
10
15
20
25
30
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
Rap1 signaling pathwayKEGGhsa04015
Rap1 signaling pathwayKEGGko04015

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
179546082007KRIT-1/CCM1 is a Rap1 effector that regulates endothelial cell cell junctions.137
203083632010Cerebral cavernous malformations proteins inhibit Rho kinase to stabilize vascular integrity.129
190881232009Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis.83
190881242009A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells.69
118541712002KRIT1 association with the integrin-binding protein ICAP-1: a new direction in the elucidation of cerebral cavernous malformations (CCM1) pathogenesis.63
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
157185122005Biallelic somatic and germ line CCM1 truncating mutations in a cerebral cavernous malformation lesion.52
183002722008Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex.40
233175062013Mechanism for KRIT1 release of ICAP1-mediated suppression of integrin activation.40
172901872007Interaction between krit1 and malcavernin: implications for the pathogenesis of cerebral cavernous malformations.34

Citation

Dessen P

KRIT1 (KRIT1 ankyrin repeat containing)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/948/krit1