ID   LBN_BOVIN               Reviewed;        1209 AA.
AC   Q8MI28;
DT   07-NOV-2003, integrated into UniProtKB/Swiss-Prot.
DT   01-OCT-2002, sequence version 1.
DT   25-MAY-2022, entry version 75.
DE   RecName: Full=Limbin;
GN   Name=EVC2; Synonyms=LBN;
OS   Bos taurus (Bovine).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Laurasiatheria; Artiodactyla; Ruminantia; Pecora; Bovidae;
OC   Bovinae; Bos.
OX   NCBI_TaxID=9913;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA], AND DISEASE.
RC   TISSUE=Bone;
RX   PubMed=12136126; DOI=10.1073/pnas.152337899;
RA   Takeda H., Takami M., Oguni T., Tsuji T., Yoneda K., Sato H., Ihara N.,
RA   Itoh T., Kata S.R., Mishina Y., Womack J.E., Moritomo Y., Sugimoto Y.,
RA   Kunieda T.;
RT   "Positional cloning of the gene LIMBIN responsible for bovine
RT   chondrodysplastic dwarfism.";
RL   Proc. Natl. Acad. Sci. U.S.A. 99:10549-10554(2002).
CC   -!- FUNCTION: Component of the EvC complex that positively regulates
CC       ciliary Hedgehog (Hh) signaling. Plays a critical role in bone
CC       formation and skeletal development. May be involved in early embryonic
CC       morphogenesis. {ECO:0000250|UniProtKB:Q8K1G2}.
CC   -!- SUBUNIT: Component of the EvC complex composed of EFCAB7, IQCE, EVC2
CC       and EVC; built from two subcomplexes, EVC2:EVC and EFCAB7:IQCE.
CC       Interacts with EVC. Interacts (via N-terminal end) with EFCAB7.
CC       Interacts (via N-terminal end) with IQCE.
CC       {ECO:0000250|UniProtKB:Q8K1G2}.
CC   -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q8K1G2};
CC       Single-pass type I membrane protein {ECO:0000250|UniProtKB:Q8K1G2}.
CC       Cytoplasm, cytoskeleton, cilium basal body
CC       {ECO:0000250|UniProtKB:Q8K1G2}. Cell projection, cilium
CC       {ECO:0000250|UniProtKB:Q8K1G2}. Cell projection, cilium membrane
CC       {ECO:0000250|UniProtKB:Q8K1G2}. Nucleus {ECO:0000250|UniProtKB:Q8K1G2}.
CC       Note=The EvC complex localizes at the base of cilia in the EvC zone of
CC       primary cilia in a EFCAB7-dependent manner.
CC       {ECO:0000250|UniProtKB:Q8K1G2}.
CC   -!- DISEASE: Note=Defects in EVC2 are the cause of bovine chondrodysplastic
CC       dwarfism (BCD). BCD is an autosomal recessive disorder characterized by
CC       short limbs, joint abnormalities and ateliosis.
CC       {ECO:0000269|PubMed:12136126}.
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DR   EMBL; AB083065; BAC06588.1; -; mRNA.
DR   RefSeq; NP_776352.1; NM_173927.1.
DR   AlphaFoldDB; Q8MI28; -.
DR   SMR; Q8MI28; -.
DR   STRING; 9913.ENSBTAP00000005613; -.
DR   PaxDb; Q8MI28; -.
DR   PRIDE; Q8MI28; -.
DR   GeneID; 280834; -.
DR   KEGG; bta:280834; -.
DR   CTD; 132884; -.
DR   eggNOG; ENOG502QQ5U; Eukaryota.
DR   InParanoid; Q8MI28; -.
DR   OrthoDB; 90381at2759; -.
DR   Proteomes; UP000009136; Unplaced.
DR   GO; GO:0060170; C:ciliary membrane; IBA:GO_Central.
DR   GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR   GO; GO:0005856; C:cytoskeleton; IEA:UniProtKB-KW.
DR   GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR   GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR   GO; GO:0098797; C:plasma membrane protein complex; IBA:GO_Central.
DR   GO; GO:0007224; P:smoothened signaling pathway; IEA:InterPro.
DR   InterPro; IPR022076; Limbin.
DR   InterPro; IPR026501; Limbin/Ellis-van_Creveld.
DR   PANTHER; PTHR16795; PTHR16795; 1.
DR   Pfam; PF12297; EVC2_like; 1.
PE   2: Evidence at transcript level;
KW   Cell membrane; Cell projection; Coiled coil; Cytoplasm; Cytoskeleton;
KW   Dwarfism; Glycoprotein; Membrane; Nucleus; Reference proteome;
KW   Transmembrane; Transmembrane helix.
FT   CHAIN           1..1209
FT                   /note="Limbin"
FT                   /id="PRO_0000084362"
FT   TOPO_DOM        1..200
FT                   /note="Extracellular"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        201..221
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        222..1209
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   REGION          689..714
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COILED          355..394
FT                   /evidence="ECO:0000255"
FT   COILED          553..697
FT                   /evidence="ECO:0000255"
FT   COILED          920..1012
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        120
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
SQ   SEQUENCE   1209 AA;  137812 MW;  D78106F1001785AB CRC64;
     MKFSKEIEVF NPPLASSASS GPWVHSVFAF THSWPRKTLF KRDSAVTHRL YGDISRDFQG
     TSENGVIFQK CAVVSVQSEW PSAHVRLFVN NTRTPTAANL SDLFLLDNIT GLTIRESAGN
     QTSRGFQAFR KKFLQVGDSF SVSYTASLEA RDVGSGDILL LPAQLSFQSS SPNRTQLKAP
     FTITAEEKIT VLPNHGLHAA GFCVAFILSL VLTWAVLFFM VRYQCVKGSS LTRHQVQHHE
     NKLEHSQFTS ADGVNEDLAL NDQMIDILSS EDPGSMLQAL EELEIATLNR ADSDLEACRT
     QISKDIIALL LKNLTSSGQL SPQVERRMGA VFKKQFLLLE KEIQEEYDRK MVALTAECDL
     ETRKKTESQY QREMAAMEEA EEVLKRVSER SAVECSSLLR TLHGLEQEHL RRSLALQQEE
     DLAKAHRQLA IFQRNELHNI FFTQIKSAIF KGELKPEAAK MLLQDYSKIQ ESVEELMDFF
     QASKRYHLSK RFGHREYLVQ NIQSSETRMQ GLLSTASAQL TLLIQKHERA GYLDEDQMQV
     LLERAQTEVF SIKQKLDNDL KQEKKKLHQK LIIKRRREML QKHKEQRREQ LSIAEASGAA
     EDAGQYLGQW RGLMAEHSAA LEELQERLDQ AALDELRALT LSLSEKATEE LRRLQNSGMT
     QELLKRGVPW LFLQQILEEH SRDLAARAER LEGEERDRGQ EGVQSVRQRL KDDALEASTE
     EQAELRHWEH LIFTKLCSSA FSLSEEELLG MRQEVHGCFA QMDRSLALPK IRARVLLQRF
     QTAWREAEFL KLDQAMTAPE LQPQSKARKP RSKSRSKIDL LKKCTEDKIQ LFKEQAPEDL
     VEKVRGELLR ERVQQLEAQE GLFAESLVSL QFQKAARMAR TLWAYTALLS IQDLLLEELN
     SSETLTKSAC MQILESHSPE LQELERKLED QLAHQEAAQL QRALDSWQQW AGEGPALLQE
     PEETDSERHV SAVLQRALSK GQKLLEYHQQ SLREEQEDSV VLEDLLENME TDTFVTLYGQ
     ELRLASYLSK LTMLPGGTLR RLLTVALPAA SQAELLAVLD SVGQKHQDHS VENDGSRVQA
     DLGRRGKHQG WWQALESKLR GELINRGLEK MLWAQKRKES ILKKTCPPLR ERVIFSGKRS
     WPHLSLESTD ELTPVPIVGA EAVDLLNTGE KLFIFRNPKE PEISLHVPPR KKKKNFLNAK
     KAAWALGLN