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    Krit1 KRIT1, ankyrin repeat containing [ Rattus norvegicus (Norway rat) ]

    Gene ID: 362317, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Krit1provided by RGD
    Official Full Name
    KRIT1, ankyrin repeat containingprovided by RGD
    Primary source
    RGD:1305929
    See related
    EnsemblRapid:ENSRNOG00000007937 AllianceGenome:RGD:1305929
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    RGD1305929
    Summary
    Predicted to enable microtubule binding activity and phosphatidylinositol-4,5-bisphosphate binding activity. Predicted to be involved in several processes, including cell redox homeostasis; integrin activation; and negative regulation of endothelial cell apoptotic process. Predicted to be located in cell-cell junction and cytoplasm. Predicted to be part of protein-containing complex. Predicted to be active in plasma membrane. Human ortholog(s) of this gene implicated in cerebral cavernous malformation and cerebral cavernous malformation 1. Orthologous to human KRIT1 (KRIT1 ankyrin repeat containing). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in Heart (RPKM 185.7), Thymus (RPKM 185.0) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Krit1 in Genome Data Viewer
    Location:
    4q13
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 4 NC_086022.1 (31253918..31288066, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 4 NC_051339.1 (30299203..30333366, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 4 NC_005103.4 (27438609..27473150, complement)

    Chromosome 4 - NC_086022.1Genomic Context describing neighboring genes Neighboring gene mitochondrial transcription termination factor 1 Neighboring gene leucine-rich repeats and death domain containing 1 Neighboring gene uncharacterized LOC134486560 Neighboring gene ankyrin repeat and IBR domain containing 1 Neighboring gene DND microRNA-mediated repression inhibitor 1, pseudogene 2 Neighboring gene transmembrane BAX inhibitor motif containing 7

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Clinical features of cerebral cavernous malformations patients with KRIT1 mutations. Denier C, et al. Ann Neurol, 2004 Feb. PMID 14755725
    2. Identification of a novel KRIT1 mutation in an Italian family with cerebral cavernous malformation by the protein truncation test. Marini V, et al. J Neurol Sci, 2003 Aug 15. PMID 12810002
    3. Variable expression of cerebral cavernous malformations in carriers of a premature termination codon in exon 17 of the Krit1 gene. Lucas M, et al. BMC Neurol, 2003 Jul 23. PMID 12877753, Free PMC Article
    4. CCM1 mutation screen of sporadic cases with cerebral cavernous malformations. Verlaan DJ, et al. Neurology, 2004 Apr 13. PMID 15079030
    5. KRIT1 regulates the homeostasis of intracellular reactive oxygen species. Goitre L, et al. PLoS One, 2010 Jul 26. PMID 20668652, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables microtubule binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables phosphatidylinositol-4,5-bisphosphate binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in cell redox homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell redox homeostasis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in integrin activation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of angiogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of angiogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of endothelial cell apoptotic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of endothelial cell migration ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of endothelial cell proliferation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of establishment of cell polarity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of establishment of cell polarity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in cell-cell junction ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    krev interaction trapped protein 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001108618.1 → NP_001102088.1  krev interaction trapped protein 1

      See identical proteins and their annotated locations for NP_001102088.1

      Status: PROVISIONAL

      Source sequence(s)
      CH474013
      UniProtKB/TrEMBL
      A6K277, B5DF47, G3V8Z6
      Related
      ENSRNOP00000031502.4, ENSRNOT00000032505.6
      Conserved Domains (5) summary
      smart00295
      Location:421 → 640
      B41; Band 4.1 homologues
      cd13197
      Location:636 → 735
      FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
      sd00045
      Location:291 → 318
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:292 → 386
      Ank_2; Ankyrin repeats (3 copies)
      pfam16705
      Location:30 → 198
      NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCr8

    Genomic

    1. NC_086022.1 Reference GRCr8

      Range
      31253918..31288066 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039107762.2 → XP_038963690.1  krev interaction trapped protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A8I6G7T1
      Conserved Domains (4) summary
      smart00295
      Location:421 → 578
      B41; Band 4.1 homologues
      sd00045
      Location:291 → 318
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:292 → 386
      Ank_2; Ankyrin repeats (3 copies)
      pfam16705
      Location:30 → 198
      NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT
    Nucleotide Protein Strain
    Heading Accession and Version

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