You are using an outdated browser. Please upgrade your browser to improve your experience.

Tbio
EVC
Ellis-van Creveld syndrome protein

Protein Summary
Description
Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Involved in endochondral growth and skeletal development. This gene encodes a protein containing a leucine zipper and a transmembrane domain. This gene has been implicated in both Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis. [provided by RefSeq, Jul 2008]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000264956
  • ENSP00000264956
  • ENSG00000072840

Symbol
  • EVC1
  • EVCL
  • DWF-1
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
cellular component
0.79
transcription factor perturbation
0.74
gene perturbation
0.58
cell type or tissue
0.56
PubMedID
0.56


Related Tools
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 44.28   (req: < 5)
Gene RIFs: 18   (req: <= 3)
Antibodies: 84   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 44.28   (req: >= 5)
Gene RIFs: 18   (req: > 3)
Antibodies: 84   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 6
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (1)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
alkaline phosphatase measurement
1
1
0
5.8
27.3
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
alkaline phosphatase measurement
0
5.8
27.3
Orthologs (10)
1 – 5 of 10
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
EvC ciliary complex subunit 1
VGNC:7729
461097
Macaque
EvC ciliary complex subunit 1
711266
Mouse
MGI:1890596
59056
Rat
RGD:735186
289712
Dog
EvC ciliary complex subunit 1
VGNC:40503
611166
Species
Name
OMA
EggNOG
Inparanoid
Chimp
EvC ciliary complex subunit 1
Macaque
EvC ciliary complex subunit 1
Mouse
Rat
Dog
EvC ciliary complex subunit 1
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-P57679-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Pathways (11)
Activation of SMO (R-HSA-5635838)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 4 of 4
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Activation of SMO
Reactome
Hedgehog 'on' state
Reactome
Signal Transduction
Reactome
Signaling by Hedgehog
Name
Explore in Pharos
Explore in Source
Activation of SMO
Hedgehog 'on' state
Signal Transduction
Signaling by Hedgehog
Gene Ontology Terms (12)
Items per page:
10
1 – 6 of 6
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Sequence or structural Similarity (ISS)
UniProtKB
Traceable Author Statement (TAS)
Reactome
Inferred from Electronic Annotation (IEA)
UniProtKB-KW
Inferred from Electronic Annotation (IEA)
UniProtKB-KW
Inferred from Electronic Annotation (IEA)
Ensembl
Protein-Protein Interactions (70)
1 – 10 of 70
EVC2
Tbio
Novelty:  0.01398469
Score:  0.991
Data Source:  Reactome,STRINGDB
IQCE
Tdark
Novelty:  0.24800472
Score:  0.953
Data Source:  Reactome,STRINGDB
EFCAB7
Tdark
Novelty:  0.36952617
Score:  0.952
Data Source:  Reactome,STRINGDB
SUFU
Tbio
Novelty:  0.00475249
Score:  0.945
Data Source:  STRINGDB
GLI3
Tbio
Family:  TF
Novelty:  0.00051217
Score:  0.943
Data Source:  STRINGDB
GLI1
Tchem
Family:  TF
Novelty:  0.00077281
Score:  0.942
Data Source:  STRINGDB
GLI2
Tchem
Family:  TF
Novelty:  0.00229126
Score:  0.94
Data Source:  STRINGDB
SMO
Tclin
Family:  GPCR
Novelty:  0.03235855
Score:  0.931
Data Source:  Reactome,STRINGDB
GRK2
Tchem
Family:  Kinase
Novelty:  0.00200696
Score:  0.91
Data Source:  STRINGDB
CSNK1A1
Tchem
Family:  Kinase
Novelty:  0.00636472
Score:  0.9
Data Source:  STRINGDB
Publication Statistics
PubMed Score  44.28

PubMed score by year
PubTator Score  38.91

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
Find similar targets by: