[1]	NUCLEOTIDE SEQUENCE [MRNA], VARIANT WAD PRO-307, VARIANT EVC GLN-443, AND VARIANTS PRO-74; HIS-258; SER-403; LYS-449; GLN-576; GLN-760 AND GLY-953. TISSUE=Brain, and Heart; DOI=10.1038/73508; PubMed=10700184 [NCBI, ExPASy, EBI, Israel, Japan] Ruiz-Perez V.L., Ide S.E., Strom T.M., Lorenz B., Wilson D., Woods K., King L., Francomano C., Freisinger P., Spranger S., Marino B., Dallapiccola B., Wright M., Meitinger T., Polymeropoulos M.H., Goodship J.; "Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis."; Nat. Genet. 24:283-286(2000).
[2]	ERRATUM. Ruiz-Perez V.L., Ide S.E., Strom T.M., Lorenz B., Wilson D., Woods K., King L., Francomano C., Freisinger P., Spranger S., Marino B., Dallapiccola B., Wright M., Meitinger T., Polymeropoulos M.H., Goodship J.; Nat. Genet. 25:125-125(2000).
[3]	NUCLEOTIDE SEQUENCE [MRNA]. Galdzicka M., Damschroder-Williams P., Hirshman H.G., Winfield S.L., Simmons A., Lovett M., Martin B.M., Ginns E.I.; "Candidate gene for Ellis-van Creveld disorder."; Submitted (FEB-2000) to the EMBL/GenBank/DDBJ databases.

Comments

SUBCELLULAR LOCATION: Membrane; Single-pass membrane protein (Potential).
TISSUE SPECIFICITY: Found in the developing vertebral bodies, ribs, upper and lower limbs, heart, kidney, lung.
DISEASE: Defects in EVC are a cause of Ellis-van Creveld syndrome (EVC) [MIM:225500]; also known as chondroectodermal dysplasia. EVC is an autosomal recessive disorder 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.
DISEASE: Defects in EVC are a cause of acrofacial dysostosis Weyers type (WAD) [MIM:193530]; also known as Curry-Hall syndrome. Acrofacial dysostoses are a heterogeneous group of disorders combining limb defects with facial abnormalities. WAD is an autosomal dominant disorder characterized by dysplastic nails, postaxial polydactyly, acrofacial dysostosis, short limbs and short stature. The phenotype is milder than Ellis-van Creveld syndrome.
WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=EVC";.

Copyright

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Cross-references

Sequence databases

EMBL

AF216184; AAF37216.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AF216185; AAF37217.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AF239742; AAF44682.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]

IPI00027718; -.

NP_714928.1; -.

3D structure databases

ModBase

P57679.

Organism-specific databases

GC04P005830; -.

HIX0004056; -.

HGNC:3497; EVC.

EVC.

HPA008703; -.
HPA016046; -.

MIM

193530; phenotype. [NCBI / EBI]
225500; phenotype. [NCBI / EBI]
604831; gene. [NCBI / EBI]

Orphanet

952; Acrofacial dysostosis, Weyers type.
289; Ellis Van Creveld syndrome.

PharmGKB

PA27911; -.

Gene expression databases

P57679; -.

P57679; -.

HS_EVC; -.

ENSG00000072840; Homo sapiens.

Ontologies

GO:0016021;	Cellular component: integral to membrane (inferred from electronic annotation from UniProtKB-KW).
GO:0007517;	Biological process: muscle organ development (traceable author statement from ProtInc).
GO:0001501;	Biological process: skeletal system development (traceable author statement from ProtInc).
QuickGo view.

Proteomic databases

PRIDE

P57679; -.

Genome annotation databases

Ensembl

ENSG00000072840; Homo sapiens. [Contig view]

GeneID

2121; -.

KEGG

hsa:2121; -.

Phylogenomic databases

HOGENOM

P57679; -.

HOVERGEN

P57679; -.

OMA

P57679; ESVYVTS.

Other

8575; -.

EVC; Homo sapiens.

View cluster of proteins with at least 50% / 90% / 100% identity.

Keywords

Disease mutation; Dwarfism; Ectodermal dysplasia; Membrane; Polymorphism; Transmembrane.

Features

Feature table viewer

Feature aligner

`Key`	`From To`	`Length`	`Description`	`FTId`
`CHAIN`	`1 992`	`992`	`Ellis-van Creveld syndrome protein.`	`PRO_0000087102`
`TRANSMEM`	`26 48`	`23`	`Potential.`
`VARIANT`	`74 74`	`1`	`Q -> P (in dbSNP:rs2291157 [NCBI]).`	`VAR_009942`
`VARIANT`	`114 114`	`1`	`A -> V (in dbSNP:rs16837598 [NCBI]).`	`VAR_033852`
`VARIANT`	`258 258`	`1`	`Y -> H (in dbSNP:rs6414624 [NCBI]).`	`VAR_009943`
`VARIANT`	`307 307`	`1`	`S -> P (in WAD).`	`VAR_009944`
`VARIANT`	`372 372`	`1`	`T -> M (in dbSNP:rs28483498 [NCBI]).`	`VAR_033853`
`VARIANT`	`403 403`	`1`	`G -> S.`	`VAR_009945`
`VARIANT`	`443 443`	`1`	`R -> Q (in EVC; dbSNP:rs35953626 [NCBI]).`	`VAR_009946`
`VARIANT`	`449 449`	`1`	`T -> K (in dbSNP:rs2302075 [NCBI]).`	`VAR_009947`
`VARIANT`	`576 576`	`1`	`R -> Q (in dbSNP:rs1383180 [NCBI]).`	`VAR_009948`
`VARIANT`	`760 760`	`1`	`R -> Q (in dbSNP:rs2279252 [NCBI]).`	`VAR_009949`
`VARIANT`	`953 953`	`1`	`D -> G.`	`VAR_009950`
`VARIANT`	`965 965`	`1`	`Missing.`	`VAR_009951`
`CONFLICT`	`966 966`		`Missing (in Ref. 3; AAF44682).`

Sequence information

Length: 992 AA [This is the length of the unprocessed precursor]

Molecular weight: 111990 Da [This is the MW of the unprocessed precursor]

CRC64: E3ED42401138B5D4 [This is a checksum on the sequence]

        10         20         30         40         50         60 
MARGGAACKS DARLLLGRDA LRPAPALLAP AVLLGAALGL GLGLWLGCRA GRQRTRHQKD 

        70         80         90        100        110        120 
DTQNLLKNLE SNAQTPSETG SPSRRRKREV QMSKDKEAVD ECEPPSNSNI TAFALKAKVI 

       130        140        150        160        170        180 
YPINQKFRPL ADGSSNPSLH ENLKQAVLPH QPVEASPSSS LGSLSQGEKD DCSSSSSVHS 

       190        200        210        220        230        240 
ATSDDRFLSR TFLRVNAFPE VLACESVDVD LCIYSLHLKD LLHLDTALRQ EKHMMFIQIF 

       250        260        270        280        290        300 
KMCLLDLLPK KKSDDELYQK ILSKQEKDLE ELEKGLQVKL SNTEMSGAGD SEYITLADVE 

       310        320        330        340        350        360 
KKEREYSEQL IDNMEAFWKQ MANIQHFLVD QFKCSSSKAR QLMMTLTERM IAAEGLLCDS 

       370        380        390        400        410        420 
QELQALDALE RTMGRAHMAK VIEFLKLQVQ EETRCRLAAI SHGLELLAGE GKLSGRQKEE 

       430        440        450        460        470        480 
LLTQQHKAFW QEAERFSREF VQRGKDLVTA SLAHQVEGTA KLTLAQEEEQ RSFLAEAQPT 

       490        500        510        520        530        540 
ADPEKFLEAF HEVLERQRLM QCDLEEEENV RATEAVVALC QELYFSTVDT FQKFVDALFL 

       550        560        570        580        590        600 
QTLPGMTGLP PEECDYLRQE VQENAAWQLG KSNRFRRQQW KLFQELLEQD QQVWMEECAL 

       610        620        630        640        650        660 
SSVLQTHLRE DHEGTIRGVL GRLGGLTEES TRCVLQGHDL LLRSALRRLA LRGNALATLT 

       670        680        690        700        710        720 
QMRLSGKKHL LQELREQRAL EQGSSQCLDE HQWQLLRALE ARVLEEASRL EEEAQQTRLQ 

       730        740        750        760        770        780 
LQQRLLAEAQ EVGQLLQQHM ECAIGQALLV HARNAATKSR AKDRDDFKRT LMEAAVESVY 

       790        800        810        820        830        840 
VTSAGVSRLV QAYYQQIGRI MEDHEERKLQ HLKTLQGERM ENYKLRKKQE LSNPSSGSRT 

       850        860        870        880        890        900 
AGGAHETSQA VHQRMLSQQK RFLAQFPVHQ QMRLHAQQQQ AGVMDLLEAQ LETQLQEAEQ 

       910        920        930        940        950        960 
NFISELAALA RVPLAESKLL PAKRGLLEKP LRTKRKKPLP QERGDLGVPN NEDLASGDQT 

       970        980        990 
SGSLSSKRLS QQESEAGDSG NSKKMLKRRS NL

P57679 in FASTA format

View entry in raw text format (no links)
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	BLAST submission on ExPASy/SIB or at NCBI (USA)		Sequence analysis tools: ProtParam, ProtScale, Compute pI/Mw, PeptideMass, PeptideCutter, Dotlet (Java)
	ScanProsite, MotifScan		Submit a homology modeling request to SWISS-MODEL
	NPSA Sequence analysis tools