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HUMAN:EVC
Contents
| Species (Taxon ID) | Homo sapiens (Human). (9606) | |
| Gene Name(s) | EVC | |
| Protein Name(s) | Ellis-van Creveld syndrome protein
DWF-1 | |
| External Links | ||
| UniProt | P57679 | |
| EMBL | AF216184 AF216185 AF239742 | |
| CCDS | CCDS3383.1 | |
| RefSeq | NP_714928.1 | |
| UniGene | Hs.646899 Hs.649902 | |
| ProteinModelPortal | P57679 | |
| BioGrid | 108422 | |
| STRING | 9606.ENSP00000264956 | |
| DMDM | 12229783 | |
| PaxDb | P57679 | |
| PRIDE | P57679 | |
| Ensembl | ENST00000264956 | |
| GeneID | 2121 | |
| KEGG | hsa:2121 | |
| UCSC | uc003gil.1 | |
| CTD | 2121 | |
| GeneCards | GC04P005712 | |
| HGNC | HGNC:3497 | |
| HPA | HPA008703 HPA016046 | |
| MIM | 193530 225500 604831 | |
| neXtProt | NX_P57679 | |
| Orphanet | 952 289 | |
| PharmGKB | PA27911 | |
| eggNOG | NOG39078 | |
| GeneTree | ENSGT00390000015966 | |
| HOGENOM | HOG000112409 | |
| HOVERGEN | HBG003937 | |
| InParanoid | P57679 | |
| OMA | RDDFKRT | |
| OrthoDB | EOG7FV3PR | |
| PhylomeDB | P57679 | |
| TreeFam | TF335835 | |
| ChiTaRS | EVC | |
| GenomeRNAi | 2121 | |
| NextBio | 8575 | |
| PRO | PR:P57679 | |
| Proteomes | UP000005640 | |
| Bgee | P57679 | |
| CleanEx | HS_EVC | |
| ExpressionAtlas | P57679 | |
| Genevestigator | P57679 | |
| GO | GO:0036064 GO:0060170 GO:0005929 GO:0005737 GO:0016021 GO:0051216 GO:0003416 GO:0007517 GO:0045880 GO:0001501 GO:0007224 | |
| InterPro | IPR026582 IPR026501 | |
| PANTHER | PTHR16795 PTHR16795:SF12 | |
Annotations
| Qualifier | GO ID | GO term name | Reference | ECO ID | ECO term name | with/from | Aspect | Extension | Notes | Status |
|---|---|---|---|---|---|---|---|---|---|---|
|
involved_in |
GO:0045880 |
positive regulation of smoothened signaling pathway |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0036064 |
ciliary basal body |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005929 |
cilium |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0003416 |
endochondral bone growth |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0051216 |
cartilage development |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:G3V706 |
P |
Seeded From UniProt |
complete | ||
|
part_of |
GO:0098797 |
plasma membrane protein complex |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P57680 |
C |
Seeded From UniProt |
complete | ||
|
part_of |
GO:0060170 |
ciliary membrane |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P57680 |
C |
Seeded From UniProt |
complete | ||
|
involved_in |
GO:0045880 |
positive regulation of smoothened signaling pathway |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P57680 |
P |
Seeded From UniProt |
complete | ||
|
part_of |
GO:0036064 |
ciliary basal body |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P57680 |
C |
Seeded From UniProt |
complete | ||
|
part_of |
GO:0005929 |
cilium |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P57680 |
C |
Seeded From UniProt |
complete | ||
|
involved_in |
GO:0003416 |
endochondral bone growth |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P57680 |
P |
Seeded From UniProt |
complete | ||
|
involved_in |
GO:0007224 |
smoothened signaling pathway |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0007517 |
muscle organ development |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0001501 |
skeletal system development |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0060170 |
ciliary membrane |
Reactome:R-HSA-5633051 |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
C |
Seeded From UniProt |
complete | ||
|
part_of |
GO:0005929 |
cilium |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005856 |
cytoskeleton |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0042995 |
cell projection |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0016021 |
integral component of membrane |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0016020 |
membrane |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005737 |
cytoplasm |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005886 |
plasma membrane |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0060170 |
ciliary membrane |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
Notes
References
See Help:References for how to manage references in GONUTS.
- ↑ Blair, HJ et al. (2011) Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus. BMC Biol. 9 14 PubMed GONUTS page
- ↑ 2.0 2.1 Ruiz-Perez, VL et al. (2000) Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nat. Genet. 24 283-6 PubMed GONUTS page
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