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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
7
Cytoband
q21.2
Chromosome location (bp)
92197498 - 92246166
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
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 1....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Angiogenesis
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a protein containing four ankyrin repeats, a band 4.1/ezrin/radixin/moesin (FERM) domain, and multiple NPXY sequences. The encoded protein is localized in the nucleus and cytoplasm. It binds to integrin cytoplasmic domain-associated protein-1 alpha (ICAP1alpha), and plays a critical role in beta1-integrin-mediated cell proliferation. It associates with junction proteins and RAS-related protein 1A (Rap1A), which requires the encoded protein for maintaining the integrity of endothelial junctions. It is also a microtubule-associated protein and may play a role in microtubule targeting. Mutations in this gene result in cerebral cavernous malformations. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
O00522 [Direct mapping] Krev interaction trapped protein 1
Show all
A4D1F7 [Target identity:100%; Query identity:100%] Cerebral cavernous malformations 1; KRIT1, ankyrin repeat containing, isoform CRA_b; cDNA FLJ31975 fis, clone NT2RP7008190, highly similar to Krev interaction trapped protein 1
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital malformations Congenital malformations of the nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
O00522 [Direct mapping] Krev interaction trapped protein 1
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital malformations Congenital malformations of the nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
O00522 [Direct mapping] Krev interaction trapped protein 1
Show all
A4D1F7 [Target identity:100%; Query identity:100%] Cerebral cavernous malformations 1; KRIT1, ankyrin repeat containing, isoform CRA_b; cDNA FLJ31975 fis, clone NT2RP7008190, highly similar to Krev interaction trapped protein 1
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital malformations Congenital malformations of the nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
O00522 [Direct mapping] Krev interaction trapped protein 1
Show all
A4D1F7 [Target identity:100%; Query identity:100%] Cerebral cavernous malformations 1; KRIT1, ankyrin repeat containing, isoform CRA_b; cDNA FLJ31975 fis, clone NT2RP7008190, highly similar to Krev interaction trapped protein 1
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital malformations Congenital malformations of the nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
O00522 [Direct mapping] Krev interaction trapped protein 1
Show all
A4D1F7 [Target identity:100%; Query identity:100%] Cerebral cavernous malformations 1; KRIT1, ankyrin repeat containing, isoform CRA_b; cDNA FLJ31975 fis, clone NT2RP7008190, highly similar to Krev interaction trapped protein 1
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital malformations Congenital malformations of the nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
O00522 [Direct mapping] Krev interaction trapped protein 1
Show all
C9JD43 [Direct mapping] Krev interaction trapped protein 1 A4D1F7 [Target identity:100%; Query identity:100%] Cerebral cavernous malformations 1; KRIT1, ankyrin repeat containing, isoform CRA_b; cDNA FLJ31975 fis, clone NT2RP7008190, highly similar to Krev interaction trapped protein 1
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital malformations Congenital malformations of the nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
C9JEW7 [Direct mapping] Krev interaction trapped protein 1
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Protein evidence (Ezkurdia et al 2014)
O00522 [Direct mapping] Krev interaction trapped protein 1
Show all
C9JXI9 [Direct mapping] Krev interaction trapped protein 1 A4D1F7 [Target identity:100%; Query identity:100%] Cerebral cavernous malformations 1; KRIT1, ankyrin repeat containing, isoform CRA_b; cDNA FLJ31975 fis, clone NT2RP7008190, highly similar to Krev interaction trapped protein 1
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital malformations Congenital malformations of the nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
C9JJM9 [Direct mapping] Krev interaction trapped protein 1
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Protein evidence (Ezkurdia et al 2014)
C9J718 [Direct mapping] Krev interaction trapped protein 1
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Protein evidence (Ezkurdia et al 2014)
O00522 [Direct mapping] Krev interaction trapped protein 1
Show all
A0A0C4DG23 [Direct mapping] Krev interaction trapped protein 1 A4D1F7 [Target identity:100%; Query identity:100%] Cerebral cavernous malformations 1; KRIT1, ankyrin repeat containing, isoform CRA_b; cDNA FLJ31975 fis, clone NT2RP7008190, highly similar to Krev interaction trapped protein 1
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital malformations Congenital malformations of the nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
O00522 [Direct mapping] Krev interaction trapped protein 1
Show all
A4D1F7 [Target identity:100%; Query identity:100%] Cerebral cavernous malformations 1; KRIT1, ankyrin repeat containing, isoform CRA_b; cDNA FLJ31975 fis, clone NT2RP7008190, highly similar to Krev interaction trapped protein 1
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital malformations Congenital malformations of the nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
O00522 [Direct mapping] Krev interaction trapped protein 1
Show all
A4D1F7 [Target identity:100%; Query identity:100%] Cerebral cavernous malformations 1; KRIT1, ankyrin repeat containing, isoform CRA_b; cDNA FLJ31975 fis, clone NT2RP7008190, highly similar to Krev interaction trapped protein 1
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital malformations Congenital malformations of the nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
O00522 [Direct mapping] Krev interaction trapped protein 1
Show all
A4D1F7 [Target identity:100%; Query identity:100%] Cerebral cavernous malformations 1; KRIT1, ankyrin repeat containing, isoform CRA_b; cDNA FLJ31975 fis, clone NT2RP7008190, highly similar to Krev interaction trapped protein 1
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital malformations Congenital malformations of the nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
O00522 [Direct mapping] Krev interaction trapped protein 1
Show all
A4D1F7 [Target identity:100%; Query identity:100%] Cerebral cavernous malformations 1; KRIT1, ankyrin repeat containing, isoform CRA_b; cDNA FLJ31975 fis, clone NT2RP7008190, highly similar to Krev interaction trapped protein 1
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital malformations Congenital malformations of the nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
O00522 [Direct mapping] Krev interaction trapped protein 1
Show all
A4D1F7 [Target identity:100%; Query identity:100%] Cerebral cavernous malformations 1; KRIT1, ankyrin repeat containing, isoform CRA_b; cDNA FLJ31975 fis, clone NT2RP7008190, highly similar to Krev interaction trapped protein 1
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital malformations Congenital malformations of the nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
O00522 [Direct mapping] Krev interaction trapped protein 1
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital malformations Congenital malformations of the nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
O00522 [Direct mapping] Krev interaction trapped protein 1
Show all
A4D1F7 [Target identity:100%; Query identity:100%] Cerebral cavernous malformations 1; KRIT1, ankyrin repeat containing, isoform CRA_b; cDNA FLJ31975 fis, clone NT2RP7008190, highly similar to Krev interaction trapped protein 1
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital malformations Congenital malformations of the nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
O00522 [Direct mapping] Krev interaction trapped protein 1
Show all
A4D1F7 [Target identity:100%; Query identity:100%] Cerebral cavernous malformations 1; KRIT1, ankyrin repeat containing, isoform CRA_b; cDNA FLJ31975 fis, clone NT2RP7008190, highly similar to Krev interaction trapped protein 1
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital malformations Congenital malformations of the nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
O00522 [Direct mapping] Krev interaction trapped protein 1
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital malformations Congenital malformations of the nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
O00522 [Direct mapping] Krev interaction trapped protein 1
Show all
A4D1F7 [Target identity:100%; Query identity:100%] Cerebral cavernous malformations 1; KRIT1, ankyrin repeat containing, isoform CRA_b; cDNA FLJ31975 fis, clone NT2RP7008190, highly similar to Krev interaction trapped protein 1
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital malformations Congenital malformations of the nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
O00522 [Direct mapping] Krev interaction trapped protein 1
Show all
A4D1F7 [Target identity:100%; Query identity:100%] Cerebral cavernous malformations 1; KRIT1, ankyrin repeat containing, isoform CRA_b; cDNA FLJ31975 fis, clone NT2RP7008190, highly similar to Krev interaction trapped protein 1
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital malformations Congenital malformations of the nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)