KRIT1 Gene
protein-coding GIFtS: 61
GCID: GC07M091828
|
|
KRIT1, ankyrin repeat containing(Previous name: cerebral cavernous malformations 1 )
(Previous symbol: CCM1)
| |
Aliases
for KRIT1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| KRIT1, Ankyrin Repeat Containing1 2 | | Krev Interaction Trapped 12 3 | | CCM11 2 3 5 | | Cerebral Cavernous Malformations 11 | | CAM1 2 5 | | Ankyrin Repeat-Containing Protein Krit12 | | Cerebral Cavernous Malformations 1 Protein2 3 | | Krev Interaction Trapped Protein 12 |
Export aliases for KRIT1 gene to outside databasesPrevious GC identifers: GC07M091473 GC07M091666 GC07M086435 |
Summaries
for KRIT1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for KRIT1:
This gene encodes a protein containing four ankyrin repeats, a band 4.1/ezrin/radixin/moesin (FERM) domain, andmultiple NPXY sequences. The encoded protein is localized in the nucleus and cytoplasm. It binds to integrincytoplasmic domain-associated protein-1 alpha (ICAP1alpha), and plays a critical role in beta1-integrin-mediated cellproliferation. It associates with junction proteins and RAS-related protein 1A (Rap1A), which requires the encodedprotein for maintaining the integrity of endothelial junctions. It is also a microtubule-associated protein and mayplay a role in microtubule targeting. Mutations in this gene result in cerebral cavernous malformations. Multiplealternatively spliced transcript variants have been found for this gene. (provided by RefSeq, Sep 2009)
UniProtKB/Swiss-Prot: KRIT1_HUMAN, O00522Function: Component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation andintegrity (By similarity). Negative regulator of angiogenesis. Inhibits endothelial proliferation, apoptosis,migration, lumen formation and sprouting angiogenesis in primary endothelial cells. Promotes AKT phosphorylation in aNOTCH-dependent and independent manner, and inhibits EKR1/2 phosphorylation indirectly through activation of theDELTA-NOTCH cascade. Acts in concert with CDH5 to establish and maintain correct endothelial cell polarity andvascular 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 junctionstabilization. Plays a role in integrin signaling via its interaction with ITGB1BP1; this prevents the interactionbetween ITGB1 and ITGB1BP1. 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 anantioxidant pathway involving FOXO1 and SOD2. Facilitates the down-regulation of cyclin-D1 (CCND1) levels required forcell transition from proliferative growth to quiescence by preventing the accumulation of intracellular ROS throughthe modulation of FOXO1 and SOD2 levels
Gene Wiki entry for KRIT1
|
Genomic Views
for KRIT1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000007.13 NC_018918.1 NT_007933.15 NT_079595.2
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the KRIT1 gene promoter:
CREB
Other transcription factors
Search SABiosciences Chromatin IP Primers for KRIT1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KRIT1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 7q21.2 Ensembl cytogenetic band: 7q21.2 HGNC cytogenetic band: 7q21.2KRIT1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 7 GeneLoc Exon Structure GeneLoc location for GC07M091828: view genomic region
(about GC identifiers)
Start:
|
91,828,283 bp from pter |
End:
|
91,875,480 bp from pter |
Size:
|
47,198 bases |
Orientation:
|
minus strand |
1 alternative location:
| Chr7-,CRA_TCAG 91,157,516-91,204,647 |
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Proteins
for KRIT1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: KRIT1_HUMAN, O00522 (See
protein sequence)Recommended Name: Krev interaction trapped protein 1 Size: 736 amino acids; 84348 Da
Subunit: Interacts with CDH5 (By similarity). Interacts with RAP1A. Interacts (via FERM domain) with RAP1B. Interactswith ITGB1BP1. Interacts with HEG1 and CCM2; greatly facilitates CCM2-binding to HEG1
Subcellular location: Cytoplasm, cytoskeleton. Cell membrane; Peripheral membrane protein. Cell junction. Note=KRIT1and CDH5 reciprocally regulate their localization to endothelial cell-cell junctions. Association with RAP1relocalizes KRIT1 from microtubules to cell junction membranes
3 PDB 3D structures from  and Proteopedia  for KRIT1:3U7D (3D)
4DX8 (3D)
4DXA (3D)
Secondary accessions: A6NNU0 O43894 Q506L6 Q6U276 Q75N19 Q9H180 Q9H264 Q9HAX5Alternative splicing: 3 isoforms: O00522-1 O00522-2 O00522-3 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for KRIT1: NX_O00522
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_O00522
KRIT1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (5 alternative transcripts):
NP_001013424.1 NP_004903.2 NP_919436.1 NP_919437.1 NP_919438.1
ENSEMBL proteins: ENSP00000344668 ENSP00000410909 ENSP00000378013 ENSP00000378011 ENSP00000404084 ENSP00000391675 ENSP00000410104 ENSP00000405835 ENSP00000396042 ENSP00000391540 ENSP00000410467 ENSP00000396352 ENSP00000395346 ENSP00000414694 ENSP00000388076 ENSP00000395604 ENSP00000404790 ENSP00000378015
Human Recombinant Protein Products for KRIT1:
Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table
KRIT1 for ontologies About GeneDecksing
KRIT1 Antibody Products:
Assay Products for KRIT1: |
Protein
Domains /
Families
for KRIT1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
KRIT1 for domains About GeneDecksing
5/6 InterPro domains/families (see all 6):Graphical View of Domain Structure for InterPro Entry O00522ProtoNet protein and cluster: O00522 1 Blocks protein family: IPB002110 Ankyrin repeat signature
UniProtKB/Swiss-Prot: KRIT1_HUMAN, O00522Domain: The FERM domain mediates binding to RAP1A and RAP1BDomain: The N-terminal domain has structural similarity to the nudix hydrolase domain, despite the absence of a nudixbox and low sequence similarity with nudix hydrolase domainsSimilarity: Contains 4 ANK repeatsSimilarity: Contains 1 FERM domain |
Function
for KRIT1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: KRIT1_HUMAN, O00522Function: Component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation andintegrity (By similarity). Negative regulator of angiogenesis. Inhibits endothelial proliferation, apoptosis,migration, lumen formation and sprouting angiogenesis in primary endothelial cells. Promotes AKT phosphorylation in aNOTCH-dependent and independent manner, and inhibits EKR1/2 phosphorylation indirectly through activation of theDELTA-NOTCH cascade. Acts in concert with CDH5 to establish and maintain correct endothelial cell polarity andvascular 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 junctionstabilization. Plays a role in integrin signaling via its interaction with ITGB1BP1; this prevents the interactionbetween ITGB1 and ITGB1BP1. 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 anantioxidant pathway involving FOXO1 and SOD2. Facilitates the down-regulation of cyclin-D1 (CCND1) levels required forcell transition from proliferative growth to quiescence by preventing the accumulation of intracellular ROS throughthe modulation of FOXO1 and SOD2 levels Genatlas biochemistry entry for KRIT1:KREV (Kirsten transformed cell revertant) interaction trapped 1,associating with KREV1 (RAP1A1)
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table
KRIT1 for ontologies About GeneDecksing
Phenotypes:
1 GenomeRNAi human phenotype for KRIT1:
6 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Krit1):
KRIT1 for phenotypes About GeneDecksing
Animal Models:
Mouse knock-out Krit1tm1Sfre for KRIT1
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KRIT1 (see all 8)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KRIT1 (see all 5)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 5): KRIT1 (NM_001013406) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for KRIT1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KRIT1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRIT1 |
|
Pathways & Interactions
for KRIT1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | G-protein signaling Rap1A regulation pathway | | | 2 | Hypothetical Network for Drug Addiction | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 EMD Millipore Pathway for KRIT1
1  GeneGo (Thomson Reuters) Pathway for KRIT1
1  BioSystems Pathway for KRIT1
KRIT1 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KRIT1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/42 Interacting proteins for KRIT1 (O005221, 3 ENSP000003446684) via UniProtKB, MINT, STRING, and/or I2D (see all 42)About this table
Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0001525 | angiogenesis |
IEA | -- | | GO:0001937 | negative regulation of endothelial cell proliferation |
IMP | -- | | GO:0007264 | small GTPase mediated signal transduction |
TAS | 9285558 | | GO:0010596 | negative regulation of endothelial cell migration |
IMP | -- | | GO:0016525 | negative regulation of angiogenesis |
IMP | -- |
KRIT1 for ontologies About GeneDecksing
|
Drugs & Compounds
for KRIT1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
KRIT1 for compounds About GeneDecksing
 Browse Tocris compounds for KRIT1
10/103 Novoseek chemical compound relationships for KRIT1 gene (see all 103) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| calmidazolium |
81.3 |
48 |
2351670 (3), 12379180 (1), 19081128 (1), 15746192 (1) (see all 26) |
| calcium |
79.8 |
1316 |
9422356 (10), 18076146 (9), 12614169 (8), 19133300 (7) (see all 99) |
| n-(6-aminohexyl)-5-chloro-1-naphthalenesulfonamide |
78.9 |
18 |
18803664 (1), 10624566 (1), 20172594 (1), 8964090 (1) (see all 15) |
| trifluoperazine |
77.6 |
87 |
10727421 (4), 11180054 (4), 2167684 (3), 19277699 (3) (see all 41) |
| p-mca |
76.2 |
80 |
15461467 (7), 19000896 (4), 16101291 (4), 15446271 (3) (see all 17) |
| mastoparan x |
71.1 |
16 |
11814356 (7), 16408880 (1) |
| rs 20 |
69.4 |
2 |
12829504 (1), 10194305 (1) |
| kn 93 |
68.3 |
3 |
16935404 (1), 14578204 (1), 15806159 (1) |
| calmodulins |
68.2 |
7 |
10194305 (2), 17157809 (1) |
| kn62 |
66.1 |
6 |
19281832 (1), 7478584 (1), 18227124 (1), 16935404 (1) (see all 5) |
Search CenterWatch for drugs/clinical trials and news about KRIT1
|
Transcripts
for KRIT1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for KRIT1 gene (5 alternative transcripts): NM_001013406.1 NM_004912.3 NM_194454.1 NM_194455.1 NM_194456.1 Unigene Cluster for KRIT1: KRIT1, ankyrin repeat containing Hs.531987 [show with all ESTs]Unigene Representative Sequence: AF38838418/24 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 24): ENST00000486261(uc010lev.1) ENST00000340022 ENST00000475770 ENST00000412043
ENST00000394505 ENST00000394503 ENST00000487168 ENST00000445516 ENST00000458177
ENST00000433016 ENST00000454017 ENST00000440209 ENST00000430102 ENST00000470309
ENST00000413688 ENST00000458493 ENST00000452773 ENST00000425919
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KRIT1 (see all 8)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KRIT1 (see all 5)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 5): KRIT1 (NM_001013406) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for KRIT1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KRIT1 |
Additional cDNA sequence: AF296765.2 AF310133.1 AF388384.1 AJ294850.1 AK055305.1 AK056537.1 AK226131.1 AL049325.1 AY380057.1 AY380058.1 AY380059.1 AY380060.1 AY993944.1 BC047343.2 BC094684.1 U90268.1 24/27 DOTS entries (see all 27): DT.311252 DT.40129960 DT.92471341 DT.100789384 DT.121106278 DT.102812 DT.102831016 DT.101962415 DT.92471467 DT.121106286 DT.92471464 DT.95286554 DT.121106296 DT.97842545 DT.121106298 DT.97842547 DT.99993548 DT.102831013 DT.121106247 DT.95164264 DT.100789388 DT.121106251 DT.121106258 DT.121106263 24/138 AceView cDNA sequences (see all 138): AI633769 AA548180 BQ230119 AI359532 CB215990 NM_194456 BU167783 BF447236 BX280088 BM471073 T17407 BU183752 NM_004912 NM_194455 AU120616 BQ424644 AA598899 AA954101 AI092627 BM785166 AA780153 AI087805 BQ188499 AI754920
GeneLoc Exon Structure
5/30 Alternative Splicing Database (ASD) splice patterns (SP) for KRIT1 (see all 30) About this scheme
| 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: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | - | | - | | - | | - | | - | | - | | - | | - | | | | | |
| 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: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | |
ECgene alternative splicing isoforms for KRIT1
|
Expression
for KRIT1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| KRIT1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATTTGAATAA
About this image
See KRIT1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KRIT1
SOURCE GeneReport for Unigene cluster: Hs.531987
UniProtKB/Swiss-Prot: KRIT1_HUMAN, O00522Tissue specificity: Low levels in brain. Very weak expression found in heart and muscle
SABiosciences Expression via Pathway-Focused PCR Array including KRIT1:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KRIT1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat KRIT1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KRIT1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KRIT1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRIT1 |
Orthologs
for KRIT1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for KRIT1 gene from 5/13 species (see all 13) About this table
ENSEMBL Gene Tree for KRIT1 (if available)
TreeFam Gene Tree for KRIT1 (if available) |
Paralogs
for KRIT1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for KRIT1 gene
- FRMD82
3 SIMAP similar genes for KRIT1 using alignment to 13 protein entries: KRIT1_HUMAN (see all proteins):CCM1 CASKIN2 ANKRD12
KRIT1 for paralogs About GeneDecksing
|
Genomic Variants
for KRIT1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 7 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for KRIT1 (91828283 - 91875480 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for KRIT1: --
Human Gene Mutation Database (HGMD): KRIT1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KRIT1 |
|
Disorders
/ Diseases
for KRIT1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
KRIT1 for disorders About GeneDecksing
OMIM gene information: 604214
OMIM disorders: 116860
UniProtKB/Swiss-Prot: KRIT1_HUMAN, O00522
Defects in KRIT1 are the cause of cerebral cavernous malformations type 1 (CCM1) [MIM:116860]. Cerebralcavernous malformations (CCMs) are congenital vascular anomalies of the central nervous system that can result inhemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. CCMs have an incidence of 0.1%-0.5%in the general population and usually present clinically during the 3rd to 5th decade of life. The lesions arecharacterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without anyintervening neural tissue, ranging in diameter from a few millimeters to several centimeters
20/64  diseases for KRIT1 (see all 64): About MalaCardscerebral cavernous malformations cavernous malformation cerebral cavernous malformations-1 hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations
cerebritis klippel-trenaunay syndrome cavernous malformations of cns and retina xy sex reversal
intracranial cavernous angioma sex reversal capillary malformations clear cell acanthoma
venous malformations glomus tumor acanthoma cavernous hemangioma
cerebral angioma cerebrovascular accident viral hepatitis toxic encephalopathy
3 diseases from the University of Copenhagen DISEASES database for KRIT1:Cavernous hemangioma Klippel-Trenaunay syndrome Cerebrovascular accident 10/40 Novoseek disease relationships for KRIT1 gene (see all 40) About this table
GeneTests: KRIT1
Familial Cerebral Cavernous Malformation
Genetic Association Database (GAD): KRIT1
Human Genome Epidemiology (HuGE) Navigator: KRIT1 (3 documents)
Export disorders for KRIT1 gene to outside databases
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Publications
for KRIT1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
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PubMed articles for KRIT1 gene, integrated from 9 sources (see all 764):
(articles sorted by number of sources associating them with KRIT1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Identification of eight novel 5`-exons in cerebral capillary malformation gene-1 (CCM1) encoding KRIT1. (PubMed id 11342228)1, 2, 3, 9 Eerola I.... Vikkula M. (2001)
- Computational and experimental analyses reveal previously undetected coding exons of the KRIT1 (CCM1) gene. (PubMed id 11161805)1, 2, 9 Sahoo T.... Marchuk D.A. (2001)
- Mutation and expression analysis of the KRIT1 gene associated with cerebral cavernous malformations (CCM1). (PubMed id 12172908)1, 2, 9 Kehrer-Sawatzki H.... Hameister H. (2002)
- Cloning of the murine Krit1 cDNA reveals novel mammalian 5' coding exons. (PubMed id 11161791)1, 2, 9 Zhang J.... Dietz H.C. (2000)
- CCM1 mutation screen of sporadic cases with cerebral cavernous malformations. (PubMed id 15079030)1, 4, 9 Verlaan D.J....Siegel A.M. (2004)
- Structural basis for small G protein effector interact ion of Ras-related protein 1 (Rap1) and adaptor protein Krev interaction trapped 1 (KRIT1). (PubMed id 22577140)1, 2 Li X....Boggon T.J. (2012)
- A mechanism of Rap1-induced stabilization of endothel ial cell--cell junctions. (PubMed id 21633110)1, 2 Liu J.J....Ginsberg M.H. (2011)
- [Analysis of CCM1 gene mutations in Chinese patients with intracranial cavernous malformations] (PubMed id 16321204)1, 4 Xie R....Li X.M. (2005)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
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External Searches for KRIT1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing KRIT1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing KRIT1 gene
(According to HUGE)
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Specialized Databases showing KRIT1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Patent Information for KRIT1 gene:
Search GeneIP for patents involving KRIT1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for KRIT1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
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