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Protein

Ellis-van Creveld syndrome protein

Gene

EVC

Organism
Homo sapiens (Human)
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.By similarity

GO - Biological processi

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

Enzyme and pathway databases

ReactomeiR-HSA-5635838. Activation of SMO.

Names & Taxonomyi

Protein namesi
Recommended name:
Ellis-van Creveld syndrome protein
Alternative name(s):
DWF-1
Gene namesi
Name:EVC
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:3497. EVC.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2525ExtracellularSequence analysisAdd
BLAST
Transmembranei26 – 4823HelicalSequence analysisAdd
BLAST
Topological domaini49 – 992944CytoplasmicSequence 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

Pathology & Biotechi

Involvement in diseasei

Ellis-van Creveld syndrome (EVC)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive condition characterized by the clinical tetrad of chondrodystrophy, polydactyly, ectodermal dysplasia and cardiac anomalies. Patients manifest short-limb dwarfism, short ribs, postaxial polydactyly, and dysplastic nails and teeth. Congenital heart defects, most commonly an atrioventricular septal defect, are observed in 60% of affected individuals.
See also OMIM:225500
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti206 – 2061S → N in EVC. 1 Publication
VAR_066447
Natural varianti443 – 4431R → Q in EVC. 1 Publication
Corresponds to variant rs35953626 [ dbSNP | Ensembl ].
VAR_009946
Natural varianti623 – 6231L → P in EVC; atypical phenotype with septal cardiac defects, rhizomelic limb shortening and polydactyly without the typical lip, dental and nail abnormalities of EVC. 1 Publication
VAR_066448
Acrofacial dysostosis, Weyers type (WAD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant condition characterized by dysplastic nails, postaxial polydactyly, dental anomalies, short limbs, short stature and normal intelligence. The phenotype is milder than Ellis-van Creveld syndrome.
See also OMIM:193530
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti307 – 3071S → P in WAD. 1 Publication
VAR_009944

Keywords - Diseasei

Ciliopathy, Disease mutation, Dwarfism, Ectodermal dysplasia

Organism-specific databases

MalaCardsiEVC.
MIMi193530. phenotype.
225500. phenotype.
Orphaneti952. Acrofacial dysostosis, Weyers type.
289. Ellis Van Creveld syndrome.
PharmGKBiPA27911.

Polymorphism and mutation databases

BioMutaiEVC.
DMDMi12229783.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 992992Ellis-van Creveld syndrome proteinPRO_0000087102Add
BLAST

Proteomic databases

EPDiP57679.
PaxDbiP57679.
PRIDEiP57679.

Expressioni

Tissue specificityi

Found in the developing vertebral bodies, ribs, upper and lower limbs, heart, kidney, lung.

Gene expression databases

BgeeiP57679.
CleanExiHS_EVC.
ExpressionAtlasiP57679. baseline and differential.
GenevisibleiP57679. HS.

Organism-specific databases

HPAiHPA008703.
HPA016046.

Interactioni

Subunit structurei

Interacts with EVC2.By similarity

Protein-protein interaction databases

BioGridi108422. 2 interactions.
STRINGi9606.ENSP00000264956.

Structurei

3D structure databases

ProteinModelPortaliP57679.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IIIY. Eukaryota.
ENOG410ZF6D. LUCA.
GeneTreeiENSGT00390000015966.
HOGENOMiHOG000112409.
HOVERGENiHBG003937.
InParanoidiP57679.
KOiK19605.
OMAiRDDFKRT.
OrthoDBiEOG7FV3PR.
PhylomeDBiP57679.
TreeFamiTF335835.

Family and domain databases

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

Sequencei

Sequence statusi: Complete.

P57679-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MARGGAACKS DARLLLGRDA LRPAPALLAP AVLLGAALGL GLGLWLGCRA
60 70 80 90 100
GRQRTRHQKD DTQNLLKNLE SNAQTPSETG SPSRRRKREV QMSKDKEAVD
110 120 130 140 150
ECEPPSNSNI TAFALKAKVI YPINQKFRPL ADGSSNPSLH ENLKQAVLPH
160 170 180 190 200
QPVEASPSSS LGSLSQGEKD DCSSSSSVHS ATSDDRFLSR TFLRVNAFPE
210 220 230 240 250
VLACESVDVD LCIYSLHLKD LLHLDTALRQ EKHMMFIQIF KMCLLDLLPK
260 270 280 290 300
KKSDDELYQK ILSKQEKDLE ELEKGLQVKL SNTEMSGAGD SEYITLADVE
310 320 330 340 350
KKEREYSEQL IDNMEAFWKQ MANIQHFLVD QFKCSSSKAR QLMMTLTERM
360 370 380 390 400
IAAEGLLCDS QELQALDALE RTMGRAHMAK VIEFLKLQVQ EETRCRLAAI
410 420 430 440 450
SHGLELLAGE GKLSGRQKEE LLTQQHKAFW QEAERFSREF VQRGKDLVTA
460 470 480 490 500
SLAHQVEGTA KLTLAQEEEQ RSFLAEAQPT ADPEKFLEAF HEVLERQRLM
510 520 530 540 550
QCDLEEEENV RATEAVVALC QELYFSTVDT FQKFVDALFL QTLPGMTGLP
560 570 580 590 600
PEECDYLRQE VQENAAWQLG KSNRFRRQQW KLFQELLEQD QQVWMEECAL
610 620 630 640 650
SSVLQTHLRE DHEGTIRGVL GRLGGLTEES TRCVLQGHDL LLRSALRRLA
660 670 680 690 700
LRGNALATLT QMRLSGKKHL LQELREQRAL EQGSSQCLDE HQWQLLRALE
710 720 730 740 750
ARVLEEASRL EEEAQQTRLQ LQQRLLAEAQ EVGQLLQQHM ECAIGQALLV
760 770 780 790 800
HARNAATKSR AKDRDDFKRT LMEAAVESVY VTSAGVSRLV QAYYQQIGRI
810 820 830 840 850
MEDHEERKLQ HLKTLQGERM ENYKLRKKQE LSNPSSGSRT AGGAHETSQA
860 870 880 890 900
VHQRMLSQQK RFLAQFPVHQ QMRLHAQQQQ AGVMDLLEAQ LETQLQEAEQ
910 920 930 940 950
NFISELAALA RVPLAESKLL PAKRGLLEKP LRTKRKKPLP QERGDLGVPN
960 970 980 990
NEDLASGDQT SGSLSSKRLS QQESEAGDSG NSKKMLKRRS NL
Length:992
Mass (Da):111,990
Last modified:December 1, 2000 - v1
Checksum:iE3ED42401138B5D4
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti966 – 9661Missing in AAF44682 (Ref. 2) Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti74 – 741Q → P.1 Publication
Corresponds to variant rs2291157 [ dbSNP | Ensembl ].
VAR_009942
Natural varianti114 – 1141A → V.
Corresponds to variant rs16837598 [ dbSNP | Ensembl ].
VAR_033852
Natural varianti206 – 2061S → N in EVC. 1 Publication
VAR_066447
Natural varianti258 – 2581Y → H.1 Publication
Corresponds to variant rs6414624 [ dbSNP | Ensembl ].
VAR_009943
Natural varianti307 – 3071S → P in WAD. 1 Publication
VAR_009944
Natural varianti372 – 3721T → M.
Corresponds to variant rs28483498 [ dbSNP | Ensembl ].
VAR_033853
Natural varianti403 – 4031G → S.1 Publication
Corresponds to variant rs183114391 [ dbSNP | Ensembl ].
VAR_009945
Natural varianti443 – 4431R → Q in EVC. 1 Publication
Corresponds to variant rs35953626 [ dbSNP | Ensembl ].
VAR_009946
Natural varianti449 – 4491T → K.1 Publication
Corresponds to variant rs2302075 [ dbSNP | Ensembl ].
VAR_009947
Natural varianti576 – 5761R → Q.1 Publication
Corresponds to variant rs1383180 [ dbSNP | Ensembl ].
VAR_009948
Natural varianti623 – 6231L → P in EVC; atypical phenotype with septal cardiac defects, rhizomelic limb shortening and polydactyly without the typical lip, dental and nail abnormalities of EVC. 1 Publication
VAR_066448
Natural varianti760 – 7601R → Q.1 Publication
Corresponds to variant rs2279252 [ dbSNP | Ensembl ].
VAR_009949
Natural varianti953 – 9531D → G.1 Publication
VAR_009950
Natural varianti965 – 9651Missing .
VAR_009951

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF216184 mRNA. Translation: AAF37216.1.
AF216185 mRNA. Translation: AAF37217.1.
AF239742 mRNA. Translation: AAF44682.1.
CCDSiCCDS3383.1.
RefSeqiNP_001293019.1. NM_001306090.1.
NP_001293021.1. NM_001306092.1.
NP_714928.1. NM_153717.2.
UniGeneiHs.646899.
Hs.649902.

Genome annotation databases

EnsembliENST00000264956; ENSP00000264956; ENSG00000072840.
GeneIDi2121.
KEGGihsa:2121.
UCSCiuc003gil.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF216184 mRNA. Translation: AAF37216.1.
AF216185 mRNA. Translation: AAF37217.1.
AF239742 mRNA. Translation: AAF44682.1.
CCDSiCCDS3383.1.
RefSeqiNP_001293019.1. NM_001306090.1.
NP_001293021.1. NM_001306092.1.
NP_714928.1. NM_153717.2.
UniGeneiHs.646899.
Hs.649902.

3D structure databases

ProteinModelPortaliP57679.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108422. 2 interactions.
STRINGi9606.ENSP00000264956.

Polymorphism and mutation databases

BioMutaiEVC.
DMDMi12229783.

Proteomic databases

EPDiP57679.
PaxDbiP57679.
PRIDEiP57679.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000264956; ENSP00000264956; ENSG00000072840.
GeneIDi2121.
KEGGihsa:2121.
UCSCiuc003gil.2. human.

Organism-specific databases

CTDi2121.
GeneCardsiEVC.
HGNCiHGNC:3497. EVC.
HPAiHPA008703.
HPA016046.
MalaCardsiEVC.
MIMi193530. phenotype.
225500. phenotype.
604831. gene.
neXtProtiNX_P57679.
Orphaneti952. Acrofacial dysostosis, Weyers type.
289. Ellis Van Creveld syndrome.
PharmGKBiPA27911.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IIIY. Eukaryota.
ENOG410ZF6D. LUCA.
GeneTreeiENSGT00390000015966.
HOGENOMiHOG000112409.
HOVERGENiHBG003937.
InParanoidiP57679.
KOiK19605.
OMAiRDDFKRT.
OrthoDBiEOG7FV3PR.
PhylomeDBiP57679.
TreeFamiTF335835.

Enzyme and pathway databases

ReactomeiR-HSA-5635838. Activation of SMO.

Miscellaneous databases

ChiTaRSiEVC. human.
GenomeRNAii2121.
NextBioi8575.
PROiP57679.
SOURCEiSearch...

Gene expression databases

BgeeiP57679.
CleanExiHS_EVC.
ExpressionAtlasiP57679. baseline and differential.
GenevisibleiP57679. HS.

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

  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT WAD PRO-307, VARIANT EVC GLN-443, VARIANTS PRO-74; HIS-258; SER-403; LYS-449; GLN-576; GLN-760 AND GLY-953.
    Tissue: Brain and Heart.
  2. "Candidate gene for Ellis-van Creveld disorder."
    Galdzicka M., Damschroder-Williams P., Hirshman H.G., Winfield S.L., Simmons A., Lovett M., Martin B.M., Ginns E.I.
    Submitted (FEB-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  3. "Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene."
    Ulucan H., Gul D., Sapp J.C., Cockerham J., Johnston J.J., Biesecker L.G.
    BMC Med. Genet. 9:92-92(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT EVC PRO-623.
  4. "A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family."
    Kalsoom U.-E., Wasif N., Tariq M., Ahmad W.
    Pediatr. Int. 52:240-246(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT EVC ASN-206.

Entry informationi

Entry nameiEVC_HUMAN
AccessioniPrimary (citable) accession number: P57679
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: December 1, 2000
Last modified: March 16, 2016
This is version 120 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) 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.