LBN_HUMAN » Limbin

LBN_HUMAN » Limbin
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Topology in Plasma membrane
Topologyextracellular side
cytoplasmic side
LBN_HUMAN » Limbin » Ellis-van Creveld syndrome protein 2;EVC2;
Hydrophobic Thickness 38.8 ± 4.4 Å
Tilt Angle 17 ± 6°
ΔGtransfer -28.6 kcal/mol
ΔGfold -23.2 kcal/mol
Links UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC
Topology Out
TM Segments 297-324 (297-327)
Pathways none
PDB none
OPM none
Complexes none
Interactions none
Domains

AA: 237-660, Ellis van Creveld protein 2 like protein

UniProt annotation for LBN_HUMAN » Limbin
FUNCTION: Positive regulator of the hedgehog signaling pathway (By similarity). Plays a critical role in bone formation and skeletal development.

SUBUNIT: Interacts with EVC.

TISSUE SPECIFICITY: Found in the heart, placenta, lung, liver, skeletal muscle, kidney and pancreas.

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. Note=The disease is caused by 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 LBN_HUMAN » Limbin
SIGNAL 1 26 Potential.
CHAIN 27 1308 Limbin.
COILED 455 578 Potential.
COILED 636 800 Potential.
COILED 1001 1113 Potential.
Amino Acid Sequence for LBN_HUMAN » Limbin
MDPSGSRGRP TWVLAGGLLA VALALGGRGC LGASSRPRWR PLGAQPPRDP QVAPRSGPGL RIPPGRSGAG PESSTQDLPC MIWPKVECCH FKTAVEAPLG MKLDKKMEVF IPLSTSAASS GPWAHSLFAF IPSWPKKNLF KRESPITHRL YGDISREVQG TSENGVIFQK CALVSGSSEA QTARIWLLVN NTKTTSSANL SELLLLDSIA GLTIWDSVGN RTSEGFQAFS KKFLQVGDAF AVSYAATLQA GDLGNGESLK LPAQLTFQSS SRNRTQLKVL FSITAEENVT VLPHHGLHAA GFFIAFLLSL VLTWAALFLM VRYQCLKGNM LTRHRVWQYE SKLEPLPFTS ADGVNEDLSL NDQMIDILSS EDPGSMLQAL EELEIATLNR ADADLEACRT QISKDIIALL LKNLTSSGHL SPQVERKMSA VFKKQFLLLE NEIQEEYDRK MVALTAECDL ETRKKMENQY QREMMAMEEA EELLKRAGER SAVECSNLLR TLHGLEQEHL RKSLALQQEE DFAKAHRQLA VFQRNELHSI FFTQIKSAIF KGELKPEAAK MLLQNYSKIQ ENVEELMDFF QASKRYHLSK RFGHREYLVQ NLQSSETRVQ GLLSTAAAQL THLIQKHERA GYLDEDQMEM LLERAQTEVF SIKQKLDNDL KQEKKKLHQK LITKRRRELL QKHREQRREQ ASVGEAFRTV EDAGQYLHQK RSLMEEHGAT LEELQERLDQ AALDDLRTLT LSLFEKATDE LRRLQNSAMT QELLKRGVPW LFLQQILEEH GKEMAARAEQ LEGEERDRDQ EGVQSVRQRL KDDAPEAVTE EQAELRRWEH LIFMKLCSSV FSLSEEELLR MRQEVHGCFA QMDRSLALPK IRARVLLQQF QTAWREAEFV KLDQAVAAPE LQQQSKVRKS RSKSKSKGEL LKKCIEDKIH LCEEQASEDL VEKVRGELLR ERVQRMEAQE GGFAQSLVAL QFQKASRVTE TLSAYTALLS IQDLLLEELS ASEMLTKSAC TQILESHSRE LQELERKLED QLVQQEAAQQ QQALASWQQW VADGPGILNE PGEVDSERQV STVLHQALSK SQTLLEQHQQ CLREEQQNSV VLEDLLENME ADTFATLCSQ ELRLASYLAR MAMVPGATLR RLLSVVLPTA SQPQLLALLD SATERHVDHA AESDGGAEQA DVGRRRKHQS WWQALDGKLR GDLISRGLEK MLWARKRKQS ILKKTCLPLR ERMIFSGKGS WPHLSLEPIG ELAPVPIVGA ETIDLLNTGE KLFIFRNPKE PEISLHVPPR KKKNFLNAKK AMRALGMD