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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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