EVC_HUMAN » Ellis-van Creveld syndrome protein

EVC_HUMAN » Ellis-van Creveld syndrome protein
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Topology in Plasma membrane
Topologyextracellular side
cytoplasmic side
EVC_HUMAN » Ellis-van Creveld syndrome protein » DWF-1;
Hydrophobic Thickness 34.8 ± 2.6 Å
Tilt Angle 28 ± 24°
ΔGtransfer -19.1 kcal/mol
ΔGfold -10.3 kcal/mol
Links UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC
Topology Out
TM Segments 23-48 (23-53)
Pathways none
PDB none
OPM none
Complexes none
Interactions none
Domains none
UniProt annotation for EVC_HUMAN » Ellis-van Creveld syndrome protein
FUNCTION: Acts as a positive mediator of Hedgehog signaling indispensable for normal endochondral growth and skeletal development.

SUBUNIT: Interacts with EVC2.

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

DISEASE: Ellis-van Creveld syndrome (EVC) OMIM: An 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. mutations affecting the gene represented in this entry.

DISEASE: Acrofacial dysostosis, Weyers type (WAD) OMIM: An 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. Note=The disease is caused by mutations affecting the gene represented in this entry.

UniProt features for EVC_HUMAN » Ellis-van Creveld syndrome protein
CHAIN 1 992 Ellis-van Creveld syndrome protein.
Amino Acid Sequence for EVC_HUMAN » Ellis-van Creveld syndrome protein
MARGGAACKS DARLLLGRDA LRPAPALLAP AVLLGAALGL GLGLWLGCRA GRQRTRHQKD DTQNLLKNLE SNAQTPSETG SPSRRRKREV QMSKDKEAVD ECEPPSNSNI TAFALKAKVI YPINQKFRPL ADGSSNPSLH ENLKQAVLPH QPVEASPSSS LGSLSQGEKD DCSSSSSVHS ATSDDRFLSR TFLRVNAFPE VLACESVDVD LCIYSLHLKD LLHLDTALRQ EKHMMFIQIF KMCLLDLLPK KKSDDELYQK ILSKQEKDLE ELEKGLQVKL SNTEMSGAGD SEYITLADVE KKEREYSEQL IDNMEAFWKQ MANIQHFLVD QFKCSSSKAR QLMMTLTERM IAAEGLLCDS QELQALDALE RTMGRAHMAK VIEFLKLQVQ EETRCRLAAI SHGLELLAGE GKLSGRQKEE LLTQQHKAFW QEAERFSREF VQRGKDLVTA SLAHQVEGTA KLTLAQEEEQ RSFLAEAQPT ADPEKFLEAF HEVLERQRLM QCDLEEEENV RATEAVVALC QELYFSTVDT FQKFVDALFL QTLPGMTGLP PEECDYLRQE VQENAAWQLG KSNRFRRQQW KLFQELLEQD QQVWMEECAL SSVLQTHLRE DHEGTIRGVL GRLGGLTEES TRCVLQGHDL LLRSALRRLA LRGNALATLT QMRLSGKKHL LQELREQRAL EQGSSQCLDE HQWQLLRALE ARVLEEASRL EEEAQQTRLQ LQQRLLAEAQ EVGQLLQQHM ECAIGQALLV HARNAATKSR AKDRDDFKRT LMEAAVESVY VTSAGVSRLV QAYYQQIGRI MEDHEERKLQ HLKTLQGERM ENYKLRKKQE LSNPSSGSRT AGGAHETSQA VHQRMLSQQK RFLAQFPVHQ QMRLHAQQQQ AGVMDLLEAQ LETQLQEAEQ NFISELAALA RVPLAESKLL PAKRGLLEKP LRTKRKKPLP QERGDLGVPN NEDLASGDQT SGSLSSKRLS QQESEAGDSG NSKKMLKRRS NL