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    Evc EvC ciliary complex subunit 1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 289712, updated on 9-Dec-2024

    Summary

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    Symbol
    Evcprovided by RGD
    Full Name
    EvC ciliary complex subunit 1provided by RGD
    Primary source
    RGD:735186
    See related
    EnsemblRapid:ENSRNOG00000007564 AllianceGenome:RGD:735186
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Involved in cartilage development. Predicted to be located in ciliary basal body. Predicted to be part of plasma membrane protein complex. Predicted to be active in ciliary membrane. Human ortholog(s) of this gene implicated in Ellis-Van Creveld syndrome; Weyers acrofacial dysostosis; and ventricular septal defect. Orthologous to human EVC (EvC ciliary complex subunit 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Kidney (RPKM 268.6), Heart (RPKM 41.5) and 6 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Evc in Genome Data Viewer
    Location:
    14q21
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 14 NC_086032.1 (77680901..77722608)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 14 NC_051349.1 (73456181..73498955)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 14 NC_005113.4 (78213601..78253266)

    Chromosome 14 - NC_086032.1Genomic Context describing neighboring genes Neighboring gene prostaglandin E synthase 3, pseudogene 1 Neighboring gene EvC ciliary complex subunit 2 Neighboring gene collapsin response mediator protein 1 Neighboring gene glyoxalase 1, pseudogene 1 Neighboring gene similar to human chromosome 4 open reading frame 50 Neighboring gene janus kinase and microtubule interacting protein 1

    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
    • 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. Expression of the Ellis-van Creveld (Evc) gene in the rat tibial growth plate. Tsuji T, et al. Anat Rec A Discov Mol Cell Evol Biol, 2004 Aug. PMID 15278943
    2. An intrafamilial phenotypic variability in Ellis-Van Creveld syndrome due to a novel 27 bps deletion mutation. Zaka A, et al. Am J Med Genet A, 2021 Oct. PMID 34037314
    3. Molecular mechanisms of Ellis‑van Creveld gene variations in ventricular septal defect. Liu F, et al. Mol Med Rep, 2018 Jan. PMID 29257216, Free PMC Article
    4. Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome. Ibarra-Ramirez M, et al. Am J Case Rep, 2017 Dec 12. PMID 29229899, Free PMC Article
    5. 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

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Process Evidence Code Pubs
    involved_in cartilage development IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in endochondral bone growth ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of smoothened signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in ciliary basal body ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in ciliary membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ciliary membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cilium ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm 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 ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    evC complex member EVC
    Names
    Ellis van Creveld gene homolog
    Ellis van Creveld protein
    Ellis van Creveld syndrome homolog
    Ellis van Creveld syndrome protein
    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_001170439.1 → NP_001163910.1  evC complex member EVC

      See identical proteins and their annotated locations for NP_001163910.1

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000014
      UniProtKB/TrEMBL
      A6IJW1
      Related
      ENSRNOP00000010541.4, ENSRNOT00000010541.5
      Conserved Domains (2) summary
      TIGR02168
      Location:656 → 935
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam15921
      Location:251 → 425
      CCDC158; Coiled-coil domain-containing protein 158

    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_086032.1 Reference GRCr8

      Range
      77680901..77722608
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039091723.2 → XP_038947651.1  evC complex member EVC isoform X1

      UniProtKB/TrEMBL
      G3V706
      Conserved Domains (2) summary
      TIGR02168
      Location:656 → 932
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam15921
      Location:251 → 425
      CCDC158; Coiled-coil domain-containing protein 158

    2. XM_039091726.2 → XP_038947654.1  evC complex member EVC isoform X3

      Conserved Domains (1) summary
      pfam15921
      Location:251 → 425
      CCDC158; Coiled-coil domain-containing protein 158

    3. XM_039091724.2 → XP_038947652.1  evC complex member EVC isoform X2

      UniProtKB/TrEMBL
      A0A8I5Y1H2
      Related
      ENSRNOP00000077697.1, ENSRNOT00000111229.2
      Conserved Domains (2) summary
      TIGR02168
      Location:656 → 932
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam15921
      Location:251 → 425
      CCDC158; Coiled-coil domain-containing protein 158
    Nucleotide Protein Strain
    Heading Accession and Version

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