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    Krit1 KRIT1, ankyrin repeat containing [ Mus musculus (house mouse) ]

    Gene ID: 79264, updated on 9-Dec-2024

    Summary

    Official Symbol
    Krit1provided by MGI
    Official Full Name
    KRIT1, ankyrin repeat containingprovided by MGI
    Primary source
    MGI:MGI:1930618
    See related
    Ensembl:ENSMUSG00000000600 AllianceGenome:MGI:1930618
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Ccm1; 2010007K12Rik; A630036P20Rik
    Summary
    Predicted to enable microtubule binding activity and phosphatidylinositol-4,5-bisphosphate binding activity. Involved in cell redox homeostasis; negative regulation of angiogenesis; and regulation of establishment of cell polarity. Located in cytoplasm. Part of protein-containing complex. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; eye; and reproductive system. Used to study cerebral cavernous malformation. 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, Dec 2024]
    Expression
    Broad expression in CNS E14 (RPKM 7.1), CNS E11.5 (RPKM 6.7) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Krit1 in Genome Data Viewer
    Location:
    5 A1; 5 2.26 cM
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (3853156..3894515)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (3803156..3844515)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 50624 Neighboring gene STARR-seq mESC enhancer starr_12317 Neighboring gene transmembrane BAX inhibitor motif containing 7 Neighboring gene ankyrin repeat and IBR domain containing 1 Neighboring gene STARR-positive B cell enhancer ABC_E4742 Neighboring gene STARR-seq mESC enhancer starr_12318 Neighboring gene leucine rich repeats and death domain containing 1 Neighboring gene STARR-seq mESC enhancer starr_12319 Neighboring gene mitochondrial transcription termination factor 1a Neighboring gene Rps4x retrotransposed pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (8)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables GTPase regulator activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables microtubule binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables microtubule binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables phosphatidylinositol-4,5-bisphosphate binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables phosphatidylinositol-4,5-bisphosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell redox homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell redox homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell redox homeostasis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in endothelium development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in integrin activation IEA
    Inferred from Electronic Annotation
    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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of endothelial cell migration ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of endothelial cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of endothelial cell proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of endothelial cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within positive regulation of protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of angiogenesis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 cell-cell junction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
     
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    krev interaction trapped protein 1
    Names
    cerebral cavernous malformations 1 protein homolog
    krev interaction trapped 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001170552.1NP_001164023.1  krev interaction trapped protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001164023.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1. Isoform 2 is also known as Krit1B.
      Source sequence(s)
      AK041574, AK087107, AY328895, BB853405, BB855141, BY150935
      Consensus CDS
      CCDS51409.1
      UniProtKB/TrEMBL
      Q5U463
      Related
      ENSMUSP00000132375.2, ENSMUST00000171023.8
      Conserved Domains (5) summary
      smart00295
      Location:421640
      B41; Band 4.1 homologues
      sd00045
      Location:291318
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:292386
      Ank_2; Ankyrin repeats (3 copies)
      pfam16705
      Location:30198
      NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT
      cl17171
      Location:636696
      PH-like; Pleckstrin homology-like domain
    2. NM_030675.3NP_109600.2  krev interaction trapped protein 1 isoform 1

      See identical proteins and their annotated locations for NP_109600.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1). Isoform 1 is also known as Krit1A.
      Source sequence(s)
      AK041574, AK087107, BB619038, BB855141, BC141042
      Consensus CDS
      CCDS39002.1
      UniProtKB/Swiss-Prot
      Q6S5J6, Q6VSV2, Q7TPR8, Q8C9Q6, Q9EPY2, Q9ERH0
      UniProtKB/TrEMBL
      B2RUA8, Q5U463
      Related
      ENSMUSP00000078985.5, ENSMUST00000080085.9
      Conserved Domains (5) summary
      smart00295
      Location:421640
      B41; Band 4.1 homologues
      cd13197
      Location:636735
      FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
      sd00045
      Location:291318
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:292386
      Ank_2; Ankyrin repeats (3 copies)
      pfam16705
      Location:30198
      NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

    RNA

    1. NR_033173.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has multiple differences, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK041574, AK087107, BB591998, BC054819

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      3853156..3894515
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030254912.1XP_030110772.1  krev interaction trapped protein 1 isoform X2

      UniProtKB/TrEMBL
      Q5U463
      Conserved Domains (5) summary
      smart00295
      Location:421640
      B41; Band 4.1 homologues
      sd00045
      Location:291318
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:292386
      Ank_2; Ankyrin repeats (3 copies)
      pfam16705
      Location:30198
      NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT
      cl17171
      Location:636696
      PH-like; Pleckstrin homology-like domain
    2. XM_006503617.4XP_006503680.1  krev interaction trapped protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006503680.1

      UniProtKB/Swiss-Prot
      Q6S5J6, Q6VSV2, Q7TPR8, Q8C9Q6, Q9EPY2, Q9ERH0
      UniProtKB/TrEMBL
      B2RUA8, Q5U463
      Related
      ENSMUSP00000143559.2, ENSMUST00000200386.5
      Conserved Domains (5) summary
      smart00295
      Location:421640
      B41; Band 4.1 homologues
      cd13197
      Location:636735
      FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
      sd00045
      Location:291318
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:292386
      Ank_2; Ankyrin repeats (3 copies)
      pfam16705
      Location:30198
      NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT
    3. XM_006503618.5XP_006503681.1  krev interaction trapped protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006503681.1

      UniProtKB/Swiss-Prot
      Q6S5J6, Q6VSV2, Q7TPR8, Q8C9Q6, Q9EPY2, Q9ERH0
      UniProtKB/TrEMBL
      B2RUA8, Q5U463
      Conserved Domains (5) summary
      smart00295
      Location:421640
      B41; Band 4.1 homologues
      cd13197
      Location:636735
      FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
      sd00045
      Location:291318
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:292386
      Ank_2; Ankyrin repeats (3 copies)
      pfam16705
      Location:30198
      NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT
    4. XM_030254911.2XP_030110771.1  krev interaction trapped protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q6S5J6, Q6VSV2, Q7TPR8, Q8C9Q6, Q9EPY2, Q9ERH0
      UniProtKB/TrEMBL
      B2RUA8, Q5U463
      Conserved Domains (5) summary
      smart00295
      Location:421640
      B41; Band 4.1 homologues
      cd13197
      Location:636735
      FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
      sd00045
      Location:291318
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:292386
      Ank_2; Ankyrin repeats (3 copies)
      pfam16705
      Location:30198
      NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT