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Aliases for KRIT1 Gene

Aliases for KRIT1 Gene

  • KRIT1, Ankyrin Repeat Containing 2 3 5
  • Cerebral Cavernous Malformations 1 Protein 3 4
  • Krev Interaction Trapped 1 3 4
  • CCM1 3 4
  • Ankyrin Repeat-Containing Protein Krit1 3
  • Cerebral Cavernous Malformations 1 2
  • Krev Interaction Trapped Protein 1 3
  • CaM 3

External Ids for KRIT1 Gene

Previous HGNC Symbols for KRIT1 Gene

  • CCM1

Previous GeneCards Identifiers for KRIT1 Gene

  • GC07M091473
  • GC07M091666
  • GC07M091828
  • GC07M086435

Summaries for KRIT1 Gene

Entrez Gene Summary for KRIT1 Gene

  • 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]

GeneCards Summary for KRIT1 Gene

KRIT1 (KRIT1, Ankyrin Repeat Containing) is a Protein Coding gene. Diseases associated with KRIT1 include Cerebral Cavernous Malformations-1 and Angiokeratoma Corporis Diffusum With Arteriovenous Fistulas. Among its related pathways are G-protein signaling_Rap1A regulation pathway and Ras signaling pathway. GO annotations related to this gene include protein complex binding and phosphatidylinositol-4,5-bisphosphate binding. An important paralog of this gene is FRMD8.

UniProtKB/Swiss-Prot for KRIT1 Gene

  • 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.

Gene Wiki entry for KRIT1 Gene

Additional gene information for KRIT1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRIT1 Gene

Genomics for KRIT1 Gene

Regulatory Elements for KRIT1 Gene

Enhancers for KRIT1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07H092423 1.6 FANTOM5 Ensembl ENCODE 39 -178.5 -178535 2 HDGF PKNOX1 MLX ARNT ARID4B SIN3A YBX1 DMAP1 ZNF2 YY1 KRIT1 ENSG00000243107 GATAD1 FAM133B VPS50 AKAP9 PEX1 CYP51A1-AS1 MTERF1 CHCHD4P1
GH07H093231 1.1 ENCODE 41.4 -985.9 -985906 1 PKNOX1 FOXA2 ARNT ARID4B SIN3A ZNF2 YY1 ZNF766 ZNF207 ZNF143 KRIT1 LOC105375403 PEX1 SAMD9L GATAD1 FAM133B BET1 VPS50 HEPACAM2
GH07H092829 2 FANTOM5 Ensembl ENCODE dbSUPER 22.1 -588.0 -588018 9 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B ENSG00000243107 FAM133B KRIT1 GATAD1 CDK6 PEX1 MTERF1 AKAP9 SAMD9 LOC101927497
GH07H092132 1.2 ENCODE 33.1 +111.7 111747 3 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 SP3 NFYC ZNF610 GLIS1 ENSG00000243107 KRIT1 CYP51A1 PEX1 FAM133B AKAP9 GATAD1 CYP51A1-AS1 GC07P092082
GH07H092588 1.4 ENCODE dbSUPER 27.6 -343.7 -343705 2 HDGF ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 PEX1 ENSG00000243107 KRIT1 GATAD1 FAM133B RBM48 ANKIB1 AKAP9 ERVW-1 MTERF1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KRIT1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the KRIT1 gene promoter:

Genomic Location for KRIT1 Gene

Chromosome:
7
Start:
92,198,969 bp from pter
End:
92,246,166 bp from pter
Size:
47,198 bases
Orientation:
Minus strand

Genomic View for KRIT1 Gene

Genes around KRIT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRIT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRIT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRIT1 Gene

Proteins for KRIT1 Gene

  • Protein details for KRIT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00522-KRIT1_HUMAN
    Recommended name:
    Krev interaction trapped protein 1
    Protein Accession:
    O00522
    Secondary Accessions:
    • A6NNU0
    • O43894
    • Q506L6
    • Q6U276
    • Q75N19
    • Q9H180
    • Q9H264
    • Q9HAX5

    Protein attributes for KRIT1 Gene

    Size:
    736 amino acids
    Molecular mass:
    84348 Da
    Quaternary structure:
    • Interacts with CDH5 (PubMed:20332120). Found in a complex, at least composed of ITGB1BP1, KRIT1 and RAP1A. Interacts (via C-terminus FERM domain) with RAP1A (active GTP-bound form preferentially); the interaction does not induce the opening conformation of KRIT1. Interacts (via FERM domain) with RAP1B. Interacts (via N-terminus NPXY motif) with ITGB1BP1; the interaction induces the opening conformation of KRIT1 and competes with ITGB1 for ITGB1BP1 interaction. Interacts with HEG1 and CCM2; greatly facilitates CCM2-binding to HEG1. Associates (via N-terminus and C-terminus regions) with microtubules; the interaction is inhibited in presence of ITGB1BP1 and active GTP-bound RAP1A.

    Three dimensional structures from OCA and Proteopedia for KRIT1 Gene

    Alternative splice isoforms for KRIT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KRIT1 Gene

Post-translational modifications for KRIT1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for KRIT1 Gene

Domains & Families for KRIT1 Gene

Gene Families for KRIT1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

O00522

UniProtKB/Swiss-Prot:

KRIT1_HUMAN :
  • The FERM domain mediates binding to RAP1A and RAP1B and is necessary for binding to phosphatidylinositol 4,5-bisphosphate (PIP2).
Domain:
  • The FERM domain mediates binding to RAP1A and RAP1B and is necessary for binding to phosphatidylinositol 4,5-bisphosphate (PIP2).
  • The N-terminal domain has structural similarity to the nudix hydrolase domain, despite the absence of a nudix box and low sequence similarity with nudix hydrolase domains. The N-terminus and the C-terminus part associate together via the NPAY binding motif and adopt a lose conformation that is disrupted by ITGB1BP1, but not by RAP1A.
  • Contains 4 ANK repeats that precede the FERM domain.
genes like me logo Genes that share domains with KRIT1: view

Function for KRIT1 Gene

Molecular function for KRIT1 Gene

GENATLAS Biochemistry:
KREV (Kirsten transformed cell revertant) interaction trapped 1,associating with KREV1 (RAP1A1)
UniProtKB/Swiss-Prot Function:
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.

Phenotypes From GWAS Catalog for KRIT1 Gene

Gene Ontology (GO) - Molecular Function for KRIT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16037064
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding IDA 17916086
GO:0008017 microtubule binding IDA 17916086
GO:0030695 GTPase regulator activity TAS 9285558
GO:0032403 protein complex binding IDA 17916086
genes like me logo Genes that share ontologies with KRIT1: view
genes like me logo Genes that share phenotypes with KRIT1: view

Human Phenotype Ontology for KRIT1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KRIT1 Gene

MGI Knock Outs for KRIT1:

Animal Model Products

CRISPR Products

miRNA for KRIT1 Gene

miRTarBase miRNAs that target KRIT1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for KRIT1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KRIT1 Gene

Localization for KRIT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KRIT1 Gene

Cytoplasm, cytoskeleton. Cell membrane; Peripheral membrane protein. Cell junction. Note=KRIT1 and CDH5 reciprocally regulate their localization to endothelial cell-cell junctions. Association with RAP1 relocalizes KRIT1 from microtubules to cell junction membranes. Translocates from the cytoplasm along microtubules to the cell membrane in a ITGB1BP1-dependent manner.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KRIT1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 5
cytosol 3
nucleus 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for KRIT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 22664934
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IDA 17916086
GO:0005886 plasma membrane IEA,IDA 17916086
genes like me logo Genes that share ontologies with KRIT1: view

Pathways & Interactions for KRIT1 Gene

genes like me logo Genes that share pathways with KRIT1: view

Pathways by source for KRIT1 Gene

1 KEGG pathway for KRIT1 Gene
1 GeneGo (Thomson Reuters) pathway for KRIT1 Gene

Gene Ontology (GO) - Biological Process for KRIT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0001937 negative regulation of endothelial cell proliferation IMP 20616044
GO:0007264 small GTPase mediated signal transduction TAS 9285558
GO:0010596 negative regulation of endothelial cell migration IMP 20616044
GO:0016525 negative regulation of angiogenesis IMP 20616044
genes like me logo Genes that share ontologies with KRIT1: view

No data available for SIGNOR curated interactions for KRIT1 Gene

Drugs & Compounds for KRIT1 Gene

(59) Drugs for KRIT1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(44) Additional Compounds for KRIT1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with KRIT1: view

Transcripts for KRIT1 Gene

Unigene Clusters for KRIT1 Gene

KRIT1, ankyrin repeat containing:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for KRIT1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for KRIT1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d · 7e · 7f ^ 8a · 8b ·
SP1: - -
SP2: - - - - -
SP3:
SP4: - - - - - - - - - - -
SP5: - - - - - - - - -
SP6: - - - - - - -
SP7: - - - - - - - - - - - -
SP8: - - - - - - - -
SP9: - - - - - - -
SP10: - - - - - - - - - - -
SP11: - - - - - - - - - - - - - - - - -
SP12: - - - - - -
SP13: - - - - - - - - -
SP14: - - - - - - - - - -
SP15: - - - - - -
SP16: - - - - - - - - - - - -
SP17: - -
SP18: - - - - - - - - - - - - - -
SP19: - - - -
SP20: - - - -
SP21: - - - - - - - - - - - - - -
SP22: - - -
SP23: - - - - - - -
SP24: - -
SP25: - - - - - - - - - -
SP26: - - - -
SP27: -
SP28:
SP29: -
SP30:

ExUns: 8c ^ 9a · 9b · 9c · 9d · 9e · 9f ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24a · 24b · 24c
SP1: -
SP2: -
SP3: -
SP4: - -
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:
SP24:
SP25:
SP26:
SP27:
SP28:
SP29:
SP30: - -

Relevant External Links for KRIT1 Gene

GeneLoc Exon Structure for
KRIT1
ECgene alternative splicing isoforms for
KRIT1

Expression for KRIT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KRIT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KRIT1 Gene

This gene is overexpressed in Liver, secretome (20.0), Peripheral blood mononuclear cells (10.5), Tlymphocyte (9.6), Lymph node (7.0), and Testis (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for KRIT1 Gene



Protein tissue co-expression partners for KRIT1 Gene

NURSA nuclear receptor signaling pathways regulating expression of KRIT1 Gene:

KRIT1

SOURCE GeneReport for Unigene cluster for KRIT1 Gene:

Hs.531987

mRNA Expression by UniProt/SwissProt for KRIT1 Gene:

O00522-KRIT1_HUMAN
Tissue specificity: Low levels in brain. Very weak expression found in heart and muscle.

Evidence on tissue expression from TISSUES for KRIT1 Gene

  • Nervous system(4.8)
  • Kidney(4.2)
  • Heart(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KRIT1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • eye
  • head
  • meninges
  • neck
Abdomen:
  • liver
General:
  • blood
  • blood vessel
  • coagulation system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with KRIT1: view

Primer Products

No data available for mRNA differential expression in normal tissues for KRIT1 Gene

Orthologs for KRIT1 Gene

This gene was present in the common ancestor of animals.

Orthologs for KRIT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KRIT1 33 34
  • 99.64 (n)
dog
(Canis familiaris)
Mammalia KRIT1 33 34
  • 95.47 (n)
cow
(Bos Taurus)
Mammalia KRIT1 33 34
  • 94.07 (n)
oppossum
(Monodelphis domestica)
Mammalia KRIT1 34
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Krit1 33
  • 90.72 (n)
mouse
(Mus musculus)
Mammalia Krit1 33 16 34
  • 90.17 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 88 (a)
OneToMany
-- 34
  • 85 (a)
OneToMany
chicken
(Gallus gallus)
Aves KRIT1 33 34
  • 82.54 (n)
lizard
(Anolis carolinensis)
Reptilia KRIT1 34
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia krit1 33
  • 76.37 (n)
zebrafish
(Danio rerio)
Actinopterygii krit1 33 34
  • 68.89 (n)
wufb36f07 33
worm
(Caenorhabditis elegans)
Secernentea kri-1 33 34
  • 43.64 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 46 (a)
OneToMany
-- 34
  • 40 (a)
OneToMany
Species where no ortholog for KRIT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KRIT1 Gene

ENSEMBL:
Gene Tree for KRIT1 (if available)
TreeFam:
Gene Tree for KRIT1 (if available)

Paralogs for KRIT1 Gene

Paralogs for KRIT1 Gene

genes like me logo Genes that share paralogs with KRIT1: view

Variants for KRIT1 Gene

Sequence variations from dbSNP and Humsavar for KRIT1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
VAR_023573 Cerebral cavernous malformations 1 (CCM1) [MIM:116860]
VAR_023574 Cerebral cavernous malformations 1 (CCM1) [MIM:116860]
rs1057517752 Pathogenic 92,234,525(-) CAGAA(-/TTACTAA)GCCGT intron-variant, reference, frameshift-variant
rs1057517753 Pathogenic 92,225,770(-) ACAAA(-/CAAA)ACAAC reference, frameshift-variant
rs1057517754 Pathogenic 92,221,937(-) TTTCT(-/AAGAA)GAGAT reference, frameshift-variant

Variation tolerance for KRIT1 Gene

Residual Variation Intolerance Score: 7.92% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.53; 29.63% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KRIT1 Gene

Human Gene Mutation Database (HGMD)
KRIT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRIT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for KRIT1 Gene

Disorders for KRIT1 Gene

MalaCards: The human disease database

(22) MalaCards diseases for KRIT1 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cerebral cavernous malformations-1
  • hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations
angiokeratoma corporis diffusum with arteriovenous fistulas
  • hyperkeratotic capillary venous malformation
familial cerebral cavernous malformation 1
  • ccm 1
central nervous system hemangioma
  • hemangioma of cns
cavernous hemangioma
  • cavernoma
- elite association - COSMIC cancer census association via MalaCards
Search KRIT1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KRIT1_HUMAN
  • Cerebral cavernous malformations 1 (CCM1) [MIM:116860]: A congenital vascular anomaly of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters. {ECO:0000269 PubMed:12172908}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KRIT1

Genetic Association Database (GAD)
KRIT1
Human Genome Epidemiology (HuGE) Navigator
KRIT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KRIT1
genes like me logo Genes that share disorders with KRIT1: view

No data available for Genatlas for KRIT1 Gene

Publications for KRIT1 Gene

  1. Identification of eight novel 5'-exons in cerebral capillary malformation gene-1 (CCM1) encoding KRIT1. (PMID: 11342228) Eerola I … Vikkula M (Biochimica et biophysica acta 2001) 2 3 4 22 60
  2. Mutation and expression analysis of the KRIT1 gene associated with cerebral cavernous malformations (CCM1). (PMID: 12172908) Kehrer-Sawatzki H … Hameister H (Acta neuropathologica 2002) 3 4 22 60
  3. Computational and experimental analyses reveal previously undetected coding exons of the KRIT1 (CCM1) gene. (PMID: 11161805) Sahoo T … Marchuk DA (Genomics 2001) 3 4 22 60
  4. Interaction between krit1 and icap1alpha infers perturbation of integrin beta1-mediated angiogenesis in the pathogenesis of cerebral cavernous malformation. (PMID: 11741838) Zhang J … Dietz HC (Human molecular genetics 2001) 3 4 22 60
  5. Mechanism for KRIT1 release of ICAP1-mediated suppression of integrin activation. (PMID: 23317506) Liu W … Boggon TJ (Molecular cell 2013) 3 4 60

Products for KRIT1 Gene

Sources for KRIT1 Gene

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