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Protein

Limbin

Gene

EVC2

Organism
Bos taurus (Bovine)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Plays a critical role in bone formation and skeletal development. May be involved in early embryonic morphogenesis.By similarity

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
Limbin
Gene namesi
Name:EVC2
Synonyms:LBN
OrganismiBos taurus (Bovine)
Taxonomic identifieri9913 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaLaurasiatheriaCetartiodactylaRuminantiaPecoraBovidaeBovinaeBos
Proteomesi
  • UP000009136 Componenti: Unplaced

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 200ExtracellularSequence analysisAdd BLAST200
Transmembranei201 – 221HelicalSequence analysisAdd BLAST21
Topological domaini222 – 1209CytoplasmicSequence analysisAdd BLAST988

Keywords - Cellular componenti

Cell membrane, Cell projection, Cytoplasm, Cytoskeleton, Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

Defects in EVC2 are the cause of bovine chondrodysplastic dwarfism (BCD). BCD is an autosomal recessive disorder characterized by short limbs, joint abnormalities and ateliosis.1 Publication

Keywords - Diseasei

Dwarfism

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000843621 – 1209LimbinAdd BLAST1209

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi120N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ8MI28.
PRIDEiQ8MI28.

Interactioni

Subunit structurei

Component of the EvC complex composed of EFCAB7, IQCE, EVC2 and EVC; built from two subcomplexes, EVC2:EVC and EFCAB7:IQCE. Interacts with EVC. Interacts (via N-terminal end) with EFCAB7. Interacts (via N-terminal end) with IQCE.By similarity

Protein-protein interaction databases

STRINGi9913.ENSBTAP00000005613.

Structurei

3D structure databases

ProteinModelPortaliQ8MI28.
SMRiQ8MI28.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili355 – 394Sequence analysisAdd BLAST40
Coiled coili553 – 697Sequence analysisAdd BLAST145
Coiled coili920 – 1012Sequence analysisAdd BLAST93

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IGSC. Eukaryota.
ENOG4111Y8B. LUCA.
HOVERGENiHBG045574.
InParanoidiQ8MI28.
KOiK19608.

Family and domain databases

InterProiView protein in InterPro
IPR022076. Limbin.
IPR026501. Limbin/Ellis-van_Creveld.
PANTHERiPTHR16795. PTHR16795. 1 hit.
PfamiView protein in Pfam
PF12297. EVC2_like. 1 hit.

Sequencei

Sequence statusi: Complete.

Q8MI28-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MKFSKEIEVF NPPLASSASS GPWVHSVFAF THSWPRKTLF KRDSAVTHRL
60 70 80 90 100
YGDISRDFQG TSENGVIFQK CAVVSVQSEW PSAHVRLFVN NTRTPTAANL
110 120 130 140 150
SDLFLLDNIT GLTIRESAGN QTSRGFQAFR KKFLQVGDSF SVSYTASLEA
160 170 180 190 200
RDVGSGDILL LPAQLSFQSS SPNRTQLKAP FTITAEEKIT VLPNHGLHAA
210 220 230 240 250
GFCVAFILSL VLTWAVLFFM VRYQCVKGSS LTRHQVQHHE NKLEHSQFTS
260 270 280 290 300
ADGVNEDLAL NDQMIDILSS EDPGSMLQAL EELEIATLNR ADSDLEACRT
310 320 330 340 350
QISKDIIALL LKNLTSSGQL SPQVERRMGA VFKKQFLLLE KEIQEEYDRK
360 370 380 390 400
MVALTAECDL ETRKKTESQY QREMAAMEEA EEVLKRVSER SAVECSSLLR
410 420 430 440 450
TLHGLEQEHL RRSLALQQEE DLAKAHRQLA IFQRNELHNI FFTQIKSAIF
460 470 480 490 500
KGELKPEAAK MLLQDYSKIQ ESVEELMDFF QASKRYHLSK RFGHREYLVQ
510 520 530 540 550
NIQSSETRMQ GLLSTASAQL TLLIQKHERA GYLDEDQMQV LLERAQTEVF
560 570 580 590 600
SIKQKLDNDL KQEKKKLHQK LIIKRRREML QKHKEQRREQ LSIAEASGAA
610 620 630 640 650
EDAGQYLGQW RGLMAEHSAA LEELQERLDQ AALDELRALT LSLSEKATEE
660 670 680 690 700
LRRLQNSGMT QELLKRGVPW LFLQQILEEH SRDLAARAER LEGEERDRGQ
710 720 730 740 750
EGVQSVRQRL KDDALEASTE EQAELRHWEH LIFTKLCSSA FSLSEEELLG
760 770 780 790 800
MRQEVHGCFA QMDRSLALPK IRARVLLQRF QTAWREAEFL KLDQAMTAPE
810 820 830 840 850
LQPQSKARKP RSKSRSKIDL LKKCTEDKIQ LFKEQAPEDL VEKVRGELLR
860 870 880 890 900
ERVQQLEAQE GLFAESLVSL QFQKAARMAR TLWAYTALLS IQDLLLEELN
910 920 930 940 950
SSETLTKSAC MQILESHSPE LQELERKLED QLAHQEAAQL QRALDSWQQW
960 970 980 990 1000
AGEGPALLQE PEETDSERHV SAVLQRALSK GQKLLEYHQQ SLREEQEDSV
1010 1020 1030 1040 1050
VLEDLLENME TDTFVTLYGQ ELRLASYLSK LTMLPGGTLR RLLTVALPAA
1060 1070 1080 1090 1100
SQAELLAVLD SVGQKHQDHS VENDGSRVQA DLGRRGKHQG WWQALESKLR
1110 1120 1130 1140 1150
GELINRGLEK MLWAQKRKES ILKKTCPPLR ERVIFSGKRS WPHLSLESTD
1160 1170 1180 1190 1200
ELTPVPIVGA EAVDLLNTGE KLFIFRNPKE PEISLHVPPR KKKKNFLNAK

KAAWALGLN
Length:1,209
Mass (Da):137,812
Last modified:October 1, 2002 - v1
Checksum:iD78106F1001785AB
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB083065 mRNA. Translation: BAC06588.1.
RefSeqiNP_776352.1. NM_173927.1.
UniGeneiBt.76014.

Genome annotation databases

GeneIDi280834.
KEGGibta:280834.

Similar proteinsi

Entry informationi

Entry nameiLBN_BOVIN
AccessioniPrimary (citable) accession number: Q8MI28
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 7, 2003
Last sequence update: October 1, 2002
Last modified: September 27, 2017
This is version 68 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome