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    Evc EvC ciliary complex subunit 1 [ Mus musculus (house mouse) ]

    Gene ID: 59056, updated on 26-Mar-2024

    Summary

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    Official Symbol
    Evcprovided by MGI
    Official Full Name
    EvC ciliary complex subunit 1provided by MGI
    Primary source
    MGI:MGI:1890596
    See related
    Ensembl:ENSMUSG00000029122 AllianceGenome:MGI:1890596
    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
    Involved in endochondral bone growth and positive regulation of smoothened signaling pathway. Located in ciliary basal body and ciliary membrane. Part of plasma membrane protein complex. Is expressed in aorta; heart; nose; skeleton; and vibrissa. Used to study Ellis-Van Creveld syndrome. Human ortholog(s) of this gene implicated in Ellis-Van Creveld syndrome and Weyers acrofacial dysostosis. Orthologous to human EVC (EvC ciliary complex subunit 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in kidney adult (RPKM 11.3), limb E14.5 (RPKM 5.5) and 18 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    5 B3; 5 20.06 cM
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (37446314..37495489, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (37288970..37336947, complement)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene janus kinase and microtubule interacting protein 1 Neighboring gene STARR-seq mESC enhancer starr_12898 Neighboring gene isocitrate dehydrogenase 3 (NAD+) beta pseudogene Neighboring gene predicted gene 1043 Neighboring gene STARR-seq mESC enhancer starr_12900 Neighboring gene collapsin response mediator protein 1 Neighboring gene predicted gene 42935 Neighboring gene STARR-seq mESC enhancer starr_12901 Neighboring gene EvC ciliary complex subunit 2 Neighboring gene predicted gene 15732 Neighboring gene STARR-seq mESC enhancer starr_12902 Neighboring gene STARR-seq mESC enhancer starr_12903 Neighboring gene serine/threonine kinase 32B Neighboring gene STARR-seq mESC enhancer starr_12904

    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. Smoothened transduces Hedgehog signal by forming a complex with Evc/Evc2. Yang C, et al. Cell Res, 2012 Nov. PMID 22986504, Free PMC Article
    2. Correction to "NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome". . Nat Genet, 2000 May. PMID 10802674
    3. Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling. Valencia M, et al. Hum Mutat, 2009 Dec. PMID 19810119
    4. Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus. Blair HJ, et al. BMC Biol, 2011 Feb 28. PMID 21356043, Free PMC Article
    5. Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Ruiz-Perez VL, et al. Nat Genet, 2000 Mar. PMID 10700184

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. it is proposed that Hedgehog activates Smo by inducing its phosphorylation, which recruits Evc/Evc2 to activate Gli proteins by antagonizing Sufu in the primary cilia
      Title: Smoothened transduces Hedgehog signal by forming a complex with Evc/Evc2.
    2. Data show that Evc promotes chondrocyte proliferation, chondrocyte hypertrophy and the differentiation of osteoblasts in the perichondrium and reveal that Evc is essential for intrasphenoidal synchondrosis development.
      Title: Evc works in chondrocytes and osteoblasts to regulate multiple aspects of growth plate development in the appendicular skeleton and cranial base.
    3. the presence of Evc and Evc2 at the basal body and cilia membrane is co-dependent. In addition, Evc2, but not Evc, is present in the cell nucleus suggesting movement of Evc2 between the cilium and nucleus.
      Title: Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus.
    4. The expression of a Weyer variant, but not the expression of a truncated protein that mimics an Ellis-van Creveld syndrome mutation, impairs Hedgehog signal transduction in NIH 3T3 cells in keeping with its dominant effect.
      Title: Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.
    5. EVC and LBN protein colocalize at the tip of the primary atrial septum during murine cardiac development.
      Title: Analysis of Ellis van Creveld syndrome gene products: implications for cardiovascular development and disease.
    6. Evc is an intracellular component of the hedgehog signal transduction pathway that is required for normal transcriptional activation of Ihh target genes.
      Title: Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in endochondral bone growth IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of smoothened signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in ciliary membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ciliary membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in ciliary membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cilium ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of plasma membrane protein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of plasma membrane protein complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    evC complex member EVC
    Names
    Ellis van Creveld gene homolog
    Ellis van Creveld gene syndrome
    EvC protein (Ellis-van Creveld syndrome)
    ellis-van Creveld syndrome protein homolog

    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_001425650.1 → NP_001412579.1  evC complex member EVC isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC111129

    2. NM_021292.3 → NP_067267.2  evC complex member EVC isoform 1

      See identical proteins and their annotated locations for NP_067267.2

      Status: VALIDATED

      Source sequence(s)
      AC111129
      Consensus CDS
      CCDS19247.1
      UniProtKB/Swiss-Prot
      E9QPK2, P57680
      UniProtKB/TrEMBL
      D3YUJ0
      Related
      ENSMUSP00000031005.5, ENSMUST00000031005.11
      Conserved Domains (1) summary
      TIGR02168
      Location:658 → 937
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    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
      37446314..37495489 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011240761.4 → XP_011239063.1  evC complex member EVC isoform X3

      UniProtKB/TrEMBL
      D3YUJ0
      Conserved Domains (1) summary
      TIGR02168
      Location:658 → 937
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    2. XM_036165397.1 → XP_036021290.1  evC complex member EVC isoform X5

      UniProtKB/TrEMBL
      D3YUJ0
      Related
      ENSMUSP00000109791.2, ENSMUST00000114154.8
      Conserved Domains (1) summary
      TIGR02168
      Location:481 → 760
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    3. XM_036165396.1 → XP_036021289.1  evC complex member EVC isoform X4

      Conserved Domains (1) summary
      TIGR02168
      Location:536 → 815
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    4. XM_036165395.1 → XP_036021288.1  evC complex member EVC isoform X1

      Conserved Domains (1) summary
      TIGR02168
      Location:658 → 937
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    5. XM_036165398.1 → XP_036021291.1  evC complex member EVC isoform X6

      Conserved Domains (1) summary
      TIGR02168
      Location:345 → 624
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    RNA

    1. XR_376820.5 RNA Sequence

    2. XR_868290.4 RNA Sequence

    3. XR_003955686.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P57680.2 GenPept UniProtKB/Swiss-Prot:P57680

    Gene LinkOut

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