KRIT1 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0045454Biological processcell redox homeostasis
GO_0001525Biological processangiogenesis
GO_2000352Biological processnegative regulation of endothelial cell apoptotic process
GO_2000114Biological processregulation of establishment of cell polarity
GO_0045765Biological processregulation of angiogenesis
GO_0016525Biological processnegative regulation of angiogenesis
GO_0001937Biological processnegative regulation of endothelial cell proliferation
GO_0003158Biological processendothelium development
GO_0007264Biological processsmall GTPase-mediated signal transduction
GO_0010596Biological processnegative regulation of endothelial cell migration
GO_0033622Biological processintegrin activation
GO_0005615Cellular componentextracellular space
GO_0005856Cellular componentcytoskeleton
GO_0005886Cellular componentplasma membrane
GO_0032991Cellular componentprotein-containing complex
GO_0005911Cellular componentcell-cell junction
GO_0005737Cellular componentcytoplasm
GO_0005546Molecular functionphosphatidylinositol-4,5-bisphosphate binding
GO_0030695Molecular functionGTPase regulator activity
GO_0008017Molecular functionmicrotubule binding
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameKRIT1
Protein nameKrev interaction trapped protein 1
KRIT1 ankyrin repeat containing
Krev interaction trapped protein 1 (Krev interaction trapped 1) (Cerebral cavernous malformations 1 protein)
Cerebral cavernous malformations 1 (KRIT1, ankyrin repeat containing, isoform CRA_b) (cDNA FLJ31975 fis, clone NT2RP7008190, highly similar to Krev interaction trapped protein 1)
SynonymsCCM1
hCG_1812017
tcag7.266
DescriptionFUNCTION: Component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity (By similarity). Negative regulator of angiogenesis. Inhibits endothelial proliferation, apoptosis, migration, lumen formation and sprouting angiogenesis in primary endothelial cells. Promotes AKT phosphorylation in a NOTCH-dependent and independent manner, and inhibits ERK1/2 phosphorylation indirectly through activation of the DELTA-NOTCH cascade. Acts in concert with CDH5 to establish and maintain correct endothelial cell polarity and vascular lumen and these effects are mediated by recruitment and activation of the Par polarity complex and RAP1B. Required for the localization of phosphorylated PRKCZ, PARD3, TIAM1 and RAP1B to the cell junction, and cell junction stabilization. Plays a role in integrin signaling via its interaction with ITGB1BP1; this prevents the interaction between ITGB1 and ITGB1BP1. Microtubule-associated protein that binds to phosphatidylinositol 4,5-bisphosphate (PIP2)-containing membranes in a GTP-bound RAP1-dependent manner. Plays an important role in the maintenance of the intracellular reactive oxygen species (ROS) homeostasis to prevent oxidative cellular damage. Regulates the homeostasis of intracellular ROS through an antioxidant pathway involving FOXO1 and SOD2. Facilitates the down-regulation of cyclin-D1 (CCND1) levels required for cell transition from proliferative growth to quiescence by preventing the accumulation of intracellular ROS through the modulation of FOXO1 and SOD2 levels. May play a role in the regulation of macroautophagy through the down-regulation of the mTOR pathway . .

AccessionsENST00000687876.1
A0A8I5KVY1
C9JEW7
ENST00000686043.1
ENST00000433016.6
A0A8I5KX77
ENST00000689539.1
A0A8I5KUF9
ENST00000444960
A0A8I5KVY4
ENST00000692690.1
ENST00000690751.1
A0A8I5KWG2
A0A0C4DG23
ENST00000686785.1
ENST00000686527.1 [O00522-1]
ENST00000688404.1 [O00522-1]
ENST00000686094.1 [O00522-1]
ENST00000688781.1
ENST00000440209.5
ENST00000692157.1 [O00522-1]
ENST00000690292.1
O00522
ENST00000412043.6 [O00522-1]
ENST00000425073
C9JIY2
C9JJM9
A0A8I5KVW5
ENST00000458177.7 [O00522-1]
ENST00000687135.1 [O00522-1]
ENST00000690908.1 [O00522-3]
A0A8I5KRK7
ENST00000425073.2 [O00522-1]
ENST00000691827.1
C9JXI9
A0A8I5KQD8
ENST00000445516.2
ENST00000688314.1
ENST00000684808.1
ENST00000452773.6
ENST00000444960.6 [O00522-1]
ENST00000454017.6
A0A8I5KW41
ENST00000394507.5 [O00522-1]
C9JD43
C9JF32
ENST00000340022.6 [O00522-1]
ENST00000689556.1 [O00522-3]
ENST00000686619.1
ENST00000685431.1
ENST00000394505.7 [O00522-1]
ENST00000458177
A0A8I5KQH3
C9J718
ENST00000690529.1 [O00522-1]
ENST00000692807.1 [O00522-1]
ENST00000691239.1
ENST00000693563.1
A4D1F7
ENST00000394503.6 [O00522-3]
ENST00000690720.1 [O00522-1]
ENST00000688665.1 [O00522-1]