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    Crim1 cysteine rich transmembrane BMP regulator 1 [ Mus musculus (house mouse) ]

    Gene ID: 50766, updated on 27-Dec-2024

    Summary

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    Official Symbol
    Crim1provided by MGI
    Official Full Name
    cysteine rich transmembrane BMP regulator 1provided by MGI
    Primary source
    MGI:MGI:1354756
    See related
    Ensembl:ENSMUSG00000024074 AllianceGenome:MGI:1354756
    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
    Summary
    Predicted to enable PDZ domain binding activity. Predicted to act upstream of or within negative regulation of BMP signaling pathway. Predicted to be located in extracellular region and membrane. Is expressed in several structures, including central nervous system; genitourinary system; heart; integumental system; and sensory organ. Orthologous to human CRIM1 (cysteine rich transmembrane BMP regulator 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in lung adult (RPKM 22.3), ovary adult (RPKM 19.7) and 24 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Crim1 in Genome Data Viewer
    Location:
    17 E2- E3; 17 48.09 cM
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (78507602..78684021)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (78200233..78376592)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene predicted gene 5229 Neighboring gene predicted gene, 32282 Neighboring gene STARR-positive B cell enhancer mm9_chr17:78644738-78645038 Neighboring gene predicted gene, 41620 Neighboring gene predicted gene, 52306 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:78761825-78761978 Neighboring gene fasciculation and elongation protein zeta 2 Neighboring gene STARR-seq mESC enhancer starr_43268 Neighboring gene predicted gene, 32336 Neighboring gene predicted gene, 53960

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Expression of Crim1 during murine ocular development. Lovicu FJ, et al. Mech Dev, 2000 Jun. PMID 10842084
    2. Crim1KST264/KST264 mice display a disruption of the Crim1 gene resulting in perinatal lethality with defects in multiple organ systems. Pennisi DJ, et al. Dev Dyn, 2007 Feb. PMID 17106887
    3. Loss of renal microvascular integrity in postnatal Crim1 hypomorphic transgenic mice. Wilkinson L, et al. Kidney Int, 2009 Dec. PMID 19776720
    4. Association between congenital defects in papillary outgrowth and functional obstruction in Crim1 mutant mice. Wilkinson L, et al. J Pathol, 2012 Aug. PMID 22488641
    5. Neonatal vascularization and oxygen tension regulate appropriate perinatal renal medulla/papilla maturation. Phua YL, et al. J Pathol, 2016 Apr. PMID 26800422

    See all (61) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Crim1 and Kelch-like 14 exert complementary dual-directional developmental control over segmentally specific corticospinal axon projection targeting.
      Title: Crim1 and Kelch-like 14 exert complementary dual-directional developmental control over segmentally specific corticospinal axon projection targeting.
    2. Crim1(C140S) mice should serve as a valuable model for investigating the functions of CRIM1 that are unidentified as yet.
      Title: Crim1(C140S) mutant mice reveal the importance of cysteine 140 in the internal region 1 of CRIM1 for its physiological functions.
    3. these findings implicate CRIM1 in endothelial cell development and homeostasis in the coronary vasculature.
      Title: CRIM1 is necessary for coronary vascular endothelial cell development and homeostasis.
    4. Collectively, our data demonstrates that Crim1 is essential for cell-autonomous and paracrine aspects of heart development
      Title: Crim1 has cell-autonomous and paracrine roles during embryonic heart development.
    5. Crim1 regulates integrin signaling in murine lens development
      Title: Crim1 regulates integrin signaling in murine lens development.
    6. CRIM1 is the causative gene for Colobomatous macrophthalmia with microcornea syndrome and is important for eye development.
      Title: CRIM1 haploinsufficiency causes defects in eye development in human and mouse.
    7. Vascular endothelial cell-specific conditional compound heterozygotes for Crim1 and Vegfa exhibit a phenotype that is more severe than each single heterozygote and indistinguishable from that of the conditional homozygotes.
      Title: Crim1 maintains retinal vascular stability during development by regulating endothelial cell Vegfa autocrine signaling.
    8. Report the involvement of both endothelial cells and monocytes in the development of progressive renal fibrosis in Crim1 mutant mice.
      Title: Distinct sites of renal fibrosis in Crim1 mutant mice arise from multiple cellular origins.
    9. Crim1 mutations are associated with defects in papillary development and progression to chronic kidney disease later in life.
      Title: Association between congenital defects in papillary outgrowth and functional obstruction in Crim1 mutant mice.
    10. Crim1 is required for placental development, and is necessary for the proper differentiation of sinusoidal-trophoblast giant cells and glycogen trophoblast cells.
      Title: Crim1 has an essential role in glycogen trophoblast cell and sinusoidal-trophoblast giant cell development in the placenta.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables PDZ domain binding ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    enables serine-type endopeptidase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in negative regulation of BMP signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within negative regulation of BMP signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of osteoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of negative regulation of osteoblast differentiation ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    cysteine-rich motor neuron 1 protein
    Names
    CRIM-1
    cysteine rich transmembrane BMP regulator 1 (chordin like)

    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_001414256.1 → NP_001401185.1  cysteine-rich motor neuron 1 protein isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AC103598, AC154366

    2. NM_015800.3 → NP_056615.1  cysteine-rich motor neuron 1 protein isoform 1 precursor

      See identical proteins and their annotated locations for NP_056615.1

      Status: VALIDATED

      Source sequence(s)
      AC103598, AC154366
      Consensus CDS
      CCDS28976.1
      UniProtKB/Swiss-Prot
      Q497W4, Q9JLL0
      Related
      ENSMUSP00000108117.3, ENSMUST00000112498.3
      Conserved Domains (4) summary
      smart00121
      Location:37 → 95
      IB; Insulin growth factor-binding protein homologues
      smart00214
      Location:403 → 456
      VWC; von Willebrand factor (vWF) type C domain
      pfam02822
      Location:567 → 592
      Antistasin; Antistasin family
      cl17735
      Location:819 → 873
      VWC; von Willebrand factor type C domain

    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_000083.7 Reference GRCm39 C57BL/6J

      Range
      78507602..78684021
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006524602.4 → XP_006524665.1  cysteine-rich motor neuron 1 protein isoform X2

      Conserved Domains (4) summary
      smart00214
      Location:241 → 294
      VWC; von Willebrand factor (vWF) type C domain
      cl17735
      Location:657 → 711
      VWC; von Willebrand factor type C domain
      pfam00219
      Location:39 → 90
      IGFBP; Insulin-like growth factor binding protein
      pfam02822
      Location:405 → 430
      Antistasin; Antistasin family

    2. XM_030249892.1 → XP_030105752.1  cysteine-rich motor neuron 1 protein isoform X4

      Conserved Domains (4) summary
      smart00214
      Location:81 → 134
      VWC; von Willebrand factor (vWF) type C domain
      cl17735
      Location:497 → 551
      VWC; von Willebrand factor type C domain
      pfam02822
      Location:245 → 270
      Antistasin; Antistasin family
      pfam14828
      Location:307 → 340
      Amnionless

    3. XM_006524603.4 → XP_006524666.1  cysteine-rich motor neuron 1 protein isoform X3

      Conserved Domains (3) summary
      smart00214
      Location:118 → 171
      VWC; von Willebrand factor (vWF) type C domain
      cl17735
      Location:534 → 588
      VWC; von Willebrand factor type C domain
      pfam02822
      Location:282 → 307
      Antistasin; Antistasin family
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9JLL0.2 GenPept UniProtKB/Swiss-Prot:Q9JLL0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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