Sequence Detail

ID/Version

P57680 E9QPK2 (UniProt | EBI)

Last sequence update: 2011-07-27
Last annotation update: 2024-05-29

Sequence description from provider

RecName: Full=EvC complex member EVC {ECO:0000305};AltName: Full=Ellis-van Creveld syndrome protein homolog;

Provider

SWISS-PROT

Sequence

Polypeptide 1005 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Evc	EvC ciliary complex subunit 1	15	103	2	14

Sequence references in MGI

J:60752 Ruiz-Perez VL, et al., Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis [see comments] [published erratum appears in Nat Genet 2000 May;25(1):125]. Nat Genet. 2000 Mar;24(3):283-6
J:124105 Ruiz-Perez VL, et al., Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia. Development. 2007 Aug;134(16):2903-12
J:177234 Blair HJ, et al., 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. 2011;9:14
J:243385 Pusapati GV, et al., EFCAB7 and IQCE regulate hedgehog signaling by tethering the EVC-EVC2 complex to the base of primary cilia. Dev Cell. 2014 Mar 10;28(5):483-96
J:292518 Huttlin EL, et al., A tissue-specific atlas of mouse protein phosphorylation and expression. Cell. 2010 Dec 23;143(7):1174-89