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

Gene ID: 289712, updated on 2-Nov-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, Nov 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 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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