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Protein

Ellis-van Creveld syndrome protein homolog

Gene

Evc

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Acts as a positive mediator of Hedgehog signaling indispensable for normal endochondral growth and skeletal development.1 Publication

GO - Biological processi

  • cartilage development Source: Ensembl
  • endochondral bone growth Source: UniProtKB
  • positive regulation of smoothened signaling pathway Source: UniProtKB
  • smoothened signaling pathway Source: InterPro
Complete GO annotation...

Enzyme and pathway databases

ReactomeiR-MMU-5635838. Activation of SMO.

Names & Taxonomyi

Protein namesi
Recommended name:
Ellis-van Creveld syndrome protein homolog
Gene namesi
Name:Evc
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 5

Organism-specific databases

MGIiMGI:1890596. Evc.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2121ExtracellularSequence analysisAdd
BLAST
Transmembranei22 – 4221HelicalSequence analysisAdd
BLAST
Topological domaini43 – 1005963CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

  • ciliary basal body Source: UniProtKB
  • ciliary membrane Source: Reactome
  • cilium Source: UniProtKB
  • cytoplasm Source: UniProtKB-KW
  • integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cell projection, Cilium, Cytoplasm, Cytoskeleton, Membrane

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 10051005Ellis-van Creveld syndrome protein homologPRO_0000087103Add
BLAST

Proteomic databases

MaxQBiP57680.
PaxDbiP57680.
PRIDEiP57680.

Expressioni

Tissue specificityi

Expressed in the developing skeleton and the orofacial region. Expression is general to all the cartilaginous components of the skeleton, including the chondrocranium, the vertebrae, the rib cage, and the axial skeleton by day E15.5.1 Publication

Gene expression databases

BgeeiP57680.
CleanExiMM_EVC.
ExpressionAtlasiP57680. baseline and differential.
GenevisibleiP57680. MM.

Interactioni

Subunit structurei

Interacts with EVC2.1 Publication

Protein-protein interaction databases

IntActiP57680. 1 interaction.
MINTiMINT-4094735.
STRINGi10090.ENSMUSP00000031005.

Structurei

3D structure databases

ProteinModelPortaliP57680.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IIIY. Eukaryota.
ENOG410ZF6D. LUCA.
GeneTreeiENSGT00390000015966.
HOGENOMiHOG000112409.
HOVERGENiHBG003937.
InParanoidiP57680.
KOiK19605.
OMAiRDDFKRT.
TreeFamiTF335835.

Family and domain databases

InterProiIPR026582. Evc.
IPR026501. Limbin/Ellis-van_Creveld.
[Graphical view]
PANTHERiPTHR16795. PTHR16795. 1 hit.
PTHR16795:SF13. PTHR16795:SF13. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform Long (identifier: P57680-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MTCTKDARLQ LGREALQAAP TLLVPAVLLG GVLGLGLGLW LGCRASHLRA
60 70 80 90 100
RLQKDDRKRL LGSSEPPAQS LRDTGSQAKA RRRQRETTRD EDAPEVCEPS
110 120 130 140 150
LSGNITAFAL KARVVYPINQ KFRPLADGSS HPSLHENLTQ AAAILPHLPH
160 170 180 190 200
QPAEASPASS LGSLSQAGKE DGSSSSSMRS TYSDDRILQC AFLRVGSFPE
210 220 230 240 250
ILACESVDID LCVCSLHLKD LLQVDTALRQ EKHLMFIQIL KACLLDFFPK
260 270 280 290 300
KKPDDELCQK VLSKQEHDLE ELEKGLQARL ANTEMLGTGD SGYVSLADVE
310 320 330 340 350
RKERELSEQL IDNMGAFWKQ MESIQPTLMD QFKCSSSKAR QFMMTLTGRM
360 370 380 390 400
IVAEGLLHDS QDLHVLDTLE RTMGRSHLAR MVEFLRTQIQ EETKCRLAAI
410 420 430 440 450
SRGLELLTVQ GQLSGRQKEE LLTQQHKAFW EEAERFGREF TQRGKDLVQA
460 470 480 490 500
SQARQAEAAA ELTQTQEEER RSFLADSQLT SDPGEFLKAF HEVLERQRLT
510 520 530 540 550
RSDQEGDEDT RITEAMAALC QELYCSTMGT FQKFVDSLFL KTLPEVTSLP
560 570 580 590 600
VAECETLRQQ VQEQAARQLG QADRFRRRQW GLLCDLLEQD KRVWLEEGTL
610 620 630 640 650
STVLQRQLRD HHESTIHGVL SRFSGLSEES SRGILQGHEL LLCSALRRLA
660 670 680 690 700
LRGTTITALA QMRLSGKKRL LQELHEQLAL EQGVSPCLEE HQWQLLRALE
710 720 730 740 750
ARIQEEAARL EDEAQQTGLR LQQQLLAEAQ EAGRLLQLHM ERVIGQALLV
760 770 780 790 800
HARNVASKGR TREKEDFKRT LVETVVESVY VTSTSVNRLV QAHYQAVGKL
810 820 830 840 850
LQAHEEQLLQ RLKTLQGERI NAYKLWKKQE FSDPSLESQT ADGTHGASQG
860 870 880 890 900
VQQRMLSQQK RLLDQFTKHQ QGRLNSQRQK AQELDQLQAQ LETQLQEAEQ
910 920 930 940 950
TLISELSTLA RVPLPENKPF SNKRGLPEKP VRTKRKKPPP REREDLGTPN
960 970 980 990 1000
DDHLALADHT TGPLSTTYSA SPPIRVHSGG RLDQQDSEAG DGESTSKILQ

KGSNL
Length:1,005
Mass (Da):113,003
Last modified:July 27, 2011 - v2
Checksum:i8BA872BE7D5822DB
GO
Isoform Short (identifier: P57680-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     966-978: Missing.

Show »
Length:992
Mass (Da):111,606
Checksum:i44B285C1F84491EE
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti376 – 3761S → A in CAB76567 (PubMed:10700184).Curated
Sequence conflicti441 – 4411T → M in CAB76567 (PubMed:10700184).Curated
Sequence conflicti473 – 4731F → L in CAB76567 (PubMed:10700184).Curated
Sequence conflicti902 – 9021L → F in CAB76567 (PubMed:10700184).Curated
Sequence conflicti923 – 9231K → N in CAB76567 (PubMed:10700184).Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei966 – 97813Missing in isoform Short. CuratedVSP_004247Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ250841 mRNA. Translation: CAB76567.1.
AJ250841 mRNA. Translation: CAB76568.1. Sequence problems.
AC111129 Genomic DNA. No translation available.
CCDSiCCDS19247.1. [P57680-1]
RefSeqiNP_067267.2. NM_021292.2. [P57680-1]
XP_006504105.1. XM_006504042.2. [P57680-2]
UniGeneiMm.479678.

Genome annotation databases

EnsembliENSMUST00000031005; ENSMUSP00000031005; ENSMUSG00000029122. [P57680-1]
GeneIDi59056.
KEGGimmu:59056.
UCSCiuc008xfo.2. mouse. [P57680-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ250841 mRNA. Translation: CAB76567.1.
AJ250841 mRNA. Translation: CAB76568.1. Sequence problems.
AC111129 Genomic DNA. No translation available.
CCDSiCCDS19247.1. [P57680-1]
RefSeqiNP_067267.2. NM_021292.2. [P57680-1]
XP_006504105.1. XM_006504042.2. [P57680-2]
UniGeneiMm.479678.

3D structure databases

ProteinModelPortaliP57680.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiP57680. 1 interaction.
MINTiMINT-4094735.
STRINGi10090.ENSMUSP00000031005.

Proteomic databases

MaxQBiP57680.
PaxDbiP57680.
PRIDEiP57680.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000031005; ENSMUSP00000031005; ENSMUSG00000029122. [P57680-1]
GeneIDi59056.
KEGGimmu:59056.
UCSCiuc008xfo.2. mouse. [P57680-1]

Organism-specific databases

CTDi2121.
MGIiMGI:1890596. Evc.

Phylogenomic databases

eggNOGiENOG410IIIY. Eukaryota.
ENOG410ZF6D. LUCA.
GeneTreeiENSGT00390000015966.
HOGENOMiHOG000112409.
HOVERGENiHBG003937.
InParanoidiP57680.
KOiK19605.
OMAiRDDFKRT.
TreeFamiTF335835.

Enzyme and pathway databases

ReactomeiR-MMU-5635838. Activation of SMO.

Miscellaneous databases

ChiTaRSiEvc. mouse.
NextBioi314702.
PROiP57680.
SOURCEiSearch...

Gene expression databases

BgeeiP57680.
CleanExiMM_EVC.
ExpressionAtlasiP57680. baseline and differential.
GenevisibleiP57680. MM.

Family and domain databases

InterProiIPR026582. Evc.
IPR026501. Limbin/Ellis-van_Creveld.
[Graphical view]
PANTHERiPTHR16795. PTHR16795. 1 hit.
PTHR16795:SF13. PTHR16795:SF13. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], ALTERNATIVE SPLICING.
    Tissue: Brain.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    Strain: C57BL/6J.
  3. "Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia."
    Ruiz-Perez V.L., Blair H.J., Rodriguez-Andres M.E., Blanco M.J., Wilson A., Liu Y.N., Miles C., Peters H., Goodship J.A.
    Development 134:2903-2912(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
  4. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Kidney.
  5. "Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus."
    Blair H.J., Tompson S., Liu Y.N., Campbell J., MacArthur K., Ponting C.P., Ruiz-Perez V.L., Goodship J.A.
    BMC Biol. 9:14-14(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, TOPOLOGY, INTERACTION WITH EVC2.

Entry informationi

Entry nameiEVC_MOUSE
AccessioniPrimary (citable) accession number: P57680
Secondary accession number(s): E9QPK2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: July 27, 2011
Last modified: February 17, 2016
This is version 96 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.