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

Summary

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

Location:: 5; 5 B3

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
109	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_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.

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Variation

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Alleles

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

Targeted (1) 1 citation
Endonuclease-mediated (1)

General gene information

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Markers

NoName (e-PCR)
- UniSTS:548191

NoName (e-PCR)
- UniSTS:235169

UniSTS:478895 (e-PCR)
- UniSTS:478895

D5Jcs59 (e-PCR), detects polymorphism
- UniSTS:478895

Homology

Homologs of the Evc gene: The Evc gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, rat, chicken, and frog.
Orthologs from Annotation Pipeline: 324 organisms have orthologs with human gene Evc
Orthologs

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
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	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: evC complex member EVC; ellis-van Creveld syndrome protein homolog

Names: Ellis van Creveld gene homolog; Ellis van Creveld gene syndrome; EvC protein (Ellis-van Creveld syndrome)

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)

NM_021292.2 → NP_067267.2 evC complex member EVC

See identical proteins and their annotated locations for NP_067267.2

Status: VALIDATED

Source sequence(s)

AA423362, AJ250841, AK039759, BY242128

Consensus CDS

CCDS19247.1

UniProtKB/Swiss-Prot

E9QPK2, P57680

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: Mus musculus Annotation Release 109 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000071.7 Reference GRCm39 C57BL/6J

Range

37446314..37495489 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011240761.4 → XP_011239063.1 ellis-van Creveld syndrome protein homolog isoform X3

Conserved Domains (1) summary

TIGR02168
Location:658 → 937

SMC_prok_B; chromosome segregation protein SMC, common bacterial type
XM_036165397.1 → XP_036021290.1 ellis-van Creveld syndrome protein homolog isoform X5

Related

ENSMUSP00000109791.2, ENSMUST00000114154.8

Conserved Domains (1) summary

TIGR02168
Location:481 → 760

SMC_prok_B; chromosome segregation protein SMC, common bacterial type
XM_036165396.1 → XP_036021289.1 ellis-van Creveld syndrome protein homolog isoform X4

Conserved Domains (1) summary

TIGR02168
Location:536 → 815

SMC_prok_B; chromosome segregation protein SMC, common bacterial type
XM_006504042.5 → XP_006504105.1 ellis-van Creveld syndrome protein homolog isoform X2

UniProtKB/Swiss-Prot

P57680

Conserved Domains (1) summary

TIGR02168
Location:658 → 937

SMC_prok_B; chromosome segregation protein SMC, common bacterial type
XM_036165395.1 → XP_036021288.1 ellis-van Creveld syndrome protein homolog isoform X1

Conserved Domains (1) summary

TIGR02168
Location:658 → 937

SMC_prok_B; chromosome segregation protein SMC, common bacterial type
XM_036165398.1 → XP_036021291.1 ellis-van Creveld syndrome protein homolog isoform X6

Conserved Domains (1) summary

TIGR02168
Location:345 → 624

SMC_prok_B; chromosome segregation protein SMC, common bacterial type