ID BOC_HUMAN Reviewed; 1114 AA.
AC Q9BWV1; A6NJ30; B2RMS8; D3DN70; Q6UXJ5; Q8N2P7; Q8NF26;
DT 02-MAY-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 01-MAY-2013, entry version 96.
DE RecName: Full=Brother of CDO;
DE Short=Protein BOC;
DE Flags: Precursor;
GN Name=BOC; ORFNames=UNQ604/PRO1190;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INTERACTION WITH CDON,
RP GLYCOSYLATION, AND TISSUE SPECIFICITY.
RC TISSUE=Fetal brain;
RX PubMed=11782431; DOI=10.1093/emboj/21.1.114;
RA Kang J.-S., Mulieri P.J., Hu Y., Taliana L., Krauss R.S.;
RT "BOC, an Ig superfamily member, associates with CDO to positively
RT regulate myogenic differentiation.";
RL EMBO J. 21:114-124(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S.,
RA Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J.,
RA Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J.,
RA Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A.,
RA Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H.,
RA Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D.,
RA Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale
RT effort to identify novel human secreted and transmembrane proteins: a
RT bioinformatics assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP PARTIAL NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 317-1114 (ISOFORM 3).
RC TISSUE=Embryo, and Spleen;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R.,
RA Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R.,
RA Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V.,
RA Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.,
RA Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B.,
RA Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S.,
RA Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q.,
RA Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z.,
RA Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C.,
RA Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G.,
RA Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B.,
RA Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R.,
RA Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J.,
RA Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A.,
RA Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J.,
RA Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H.,
RA Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G.,
RA Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7]
RP PROTEIN SEQUENCE OF 31-45.
RX PubMed=15340161; DOI=10.1110/ps.04682504;
RA Zhang Z., Henzel W.J.;
RT "Signal peptide prediction based on analysis of experimentally
RT verified cleavage sites.";
RL Protein Sci. 13:2819-2824(2004).
RN [8]
RP IDENTIFICATION IN A COMPLEX WITH CDON; CDH2; CDH15 AND CTNNB1, AND
RP SUBCELLULAR LOCATION.
RX PubMed=12634428; DOI=10.1073/pnas.0736565100;
RA Kang J.-S., Feinleib J.L., Knox S., Ketteringham M.A., Krauss R.S.;
RT "Promyogenic members of the Ig and cadherin families associate to
RT positively regulate differentiation.";
RL Proc. Natl. Acad. Sci. U.S.A. 100:3989-3994(2003).
RN [9]
RP VARIANT [LARGE SCALE ANALYSIS] MET-713.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S.,
RA Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J.,
RA Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C.,
RA Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N.,
RA Vogelstein B., Kinzler K.W., Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal
RT cancers.";
RL Science 314:268-274(2006).
CC -!- FUNCTION: Component of a cell-surface receptor complex that
CC mediates cell-cell interactions between muscle precursor cells.
CC Promotes differentiation of myogenic cells.
CC -!- SUBUNIT: Part of a complex that contains BOC, CDON, NEO1,
CC cadherins and CTNNB1. Interacts with NTN3 (By similarity).
CC Interacts with CDH2 and CTNNB1. Interacts with CDH15 only during
CC the early stages of myoblast differentiation.
CC -!- SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane
CC protein. Note=Enriched at sites of cell-cell contact.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9BWV1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9BWV1-2; Sequence=VSP_037603, VSP_037604;
CC Note=No experimental confirmation available. Incomplete
CC sequence;
CC Name=3;
CC IsoId=Q9BWV1-3; Sequence=VSP_034684;
CC -!- TISSUE SPECIFICITY: Detected in skeletal muscle, heart, thymus,
CC kidney and small intestine. Detected at lower levels in brain,
CC placenta, lung and colon mucosa.
CC -!- PTM: N-glycosylated.
CC -!- MISCELLANEOUS: The C-terminal cytoplasmic domain is not required
CC for the stimuation of myogenesis.
CC -!- SIMILARITY: Contains 3 fibronectin type-III domains.
CC -!- SIMILARITY: Contains 4 Ig-like C2-type (immunoglobulin-like)
CC domains.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC11057.1; Type=Erroneous initiation;
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DR EMBL; AY027658; AAK14795.1; -; mRNA.
DR EMBL; AY358328; AAQ88694.1; -; mRNA.
DR EMBL; AK074556; BAC11057.1; ALT_INIT; mRNA.
DR EMBL; AK090455; BAC03436.1; -; mRNA.
DR EMBL; AC026329; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471052; EAW79643.1; -; Genomic_DNA.
DR EMBL; CH471052; EAW79644.1; -; Genomic_DNA.
DR EMBL; CH471052; EAW79646.1; -; Genomic_DNA.
DR EMBL; BC136390; AAI36391.1; -; mRNA.
DR IPI; IPI00465322; -.
DR IPI; IPI00744645; -.
DR IPI; IPI00747930; -.
DR RefSeq; NP_150279.1; NM_033254.2.
DR UniGene; Hs.591318; -.
DR PDB; 3N1G; X-ray; 1.90 A; C/D=710-817.
DR PDB; 3N1M; X-ray; 1.69 A; C=710-817.
DR PDB; 3N1P; X-ray; 2.70 A; C=710-817.
DR PDBsum; 3N1G; -.
DR PDBsum; 3N1M; -.
DR PDBsum; 3N1P; -.
DR ProteinModelPortal; Q9BWV1; -.
DR IntAct; Q9BWV1; 3.
DR STRING; 9606.ENSP00000347546; -.
DR PhosphoSite; Q9BWV1; -.
DR DMDM; 74761309; -.
DR PaxDb; Q9BWV1; -.
DR PRIDE; Q9BWV1; -.
DR Ensembl; ENST00000273395; ENSP00000273395; ENSG00000144857.
DR Ensembl; ENST00000355385; ENSP00000347546; ENSG00000144857.
DR Ensembl; ENST00000495514; ENSP00000418663; ENSG00000144857.
DR GeneID; 91653; -.
DR KEGG; hsa:91653; -.
DR UCSC; uc003dzx.3; human.
DR UCSC; uc003dzz.3; human.
DR CTD; 91653; -.
DR GeneCards; GC03P112929; -.
DR HGNC; HGNC:17173; BOC.
DR HPA; CAB025806; -.
DR MIM; 608708; gene.
DR neXtProt; NX_Q9BWV1; -.
DR PharmGKB; PA143485316; -.
DR eggNOG; NOG150637; -.
DR HOVERGEN; HBG061102; -.
DR OMA; QPDHGRL; -.
DR OrthoDB; EOG44TP75; -.
DR PhylomeDB; Q9BWV1; -.
DR Pathway_Interaction_DB; hedgehog_2pathway; Signaling events mediated by the Hedgehog family.
DR Reactome; REACT_111045; Developmental Biology.
DR EvolutionaryTrace; Q9BWV1; -.
DR GenomeRNAi; 91653; -.
DR NextBio; 77360; -.
DR ArrayExpress; Q9BWV1; -.
DR Bgee; Q9BWV1; -.
DR CleanEx; HS_BOC; -.
DR Genevestigator; Q9BWV1; -.
DR GermOnline; ENSG00000144857; Homo sapiens.
DR GO; GO:0044295; C:axonal growth cone; IEA:Compara.
DR GO; GO:0016021; C:integral to membrane; IEA:UniProtKB-KW.
DR GO; GO:0043025; C:neuronal cell body; IEA:Compara.
DR GO; GO:0005886; C:plasma membrane; TAS:Reactome.
DR GO; GO:0007411; P:axon guidance; IEA:Compara.
DR GO; GO:0007155; P:cell adhesion; IEA:UniProtKB-KW.
DR GO; GO:0042692; P:muscle cell differentiation; TAS:Reactome.
DR GO; GO:0045663; P:positive regulation of myoblast differentiation; ISS:HGNC.
DR GO; GO:0007224; P:smoothened signaling pathway; IEA:Compara.
DR Gene3D; 2.60.40.10; -; 7.
DR InterPro; IPR003961; Fibronectin_type3.
DR InterPro; IPR007110; Ig-like_dom.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR013098; Ig_I-set.
DR InterPro; IPR003599; Ig_sub.
DR InterPro; IPR003598; Ig_sub2.
DR Pfam; PF00041; fn3; 3.
DR Pfam; PF07679; I-set; 3.
DR SMART; SM00060; FN3; 3.
DR SMART; SM00409; IG; 1.
DR SMART; SM00408; IGc2; 3.
DR SUPFAM; SSF49265; FN_III-like; 3.
DR PROSITE; PS50853; FN3; 3.
DR PROSITE; PS50835; IG_LIKE; 4.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Cell adhesion; Cell membrane;
KW Complete proteome; Direct protein sequencing; Disulfide bond;
KW Glycoprotein; Immunoglobulin domain; Membrane; Polymorphism;
KW Reference proteome; Repeat; Signal; Transmembrane;
KW Transmembrane helix.
FT SIGNAL 1 30
FT CHAIN 31 1114 Brother of CDO.
FT /FTId=PRO_0000234052.
FT TOPO_DOM 31 855 Extracellular (Potential).
FT TRANSMEM 856 876 Helical; (Potential).
FT TOPO_DOM 877 1114 Cytoplasmic (Potential).
FT DOMAIN 36 123 Ig-like C2-type 1.
FT DOMAIN 129 213 Ig-like C2-type 2.
FT DOMAIN 235 315 Ig-like C2-type 3.
FT DOMAIN 323 409 Ig-like C2-type 4.
FT DOMAIN 471 567 Fibronectin type-III 1.
FT DOMAIN 605 699 Fibronectin type-III 2.
FT DOMAIN 712 809 Fibronectin type-III 3.
FT CARBOHYD 65 65 N-linked (GlcNAc...) (Potential).
FT CARBOHYD 76 76 N-linked (GlcNAc...) (Potential).
FT CARBOHYD 98 98 N-linked (GlcNAc...) (Potential).
FT CARBOHYD 189 189 N-linked (GlcNAc...) (Potential).
FT CARBOHYD 275 275 N-linked (GlcNAc...) (Potential).
FT CARBOHYD 517 517 N-linked (GlcNAc...) (Potential).
FT CARBOHYD 725 725 N-linked (GlcNAc...) (Potential).
FT CARBOHYD 759 759 N-linked (GlcNAc...) (Potential).
FT DISULFID 57 106 By similarity.
FT DISULFID 150 200 By similarity.
FT DISULFID 252 299 By similarity.
FT DISULFID 344 391 By similarity.
FT VAR_SEQ 1 183 Missing (in isoform 2).
FT /FTId=VSP_037603.
FT VAR_SEQ 184 223 NLQIVNASQEDEGMYKCAAYNPVTQEVKTSGSSDRLRVRR
FT -> KTRNGCLIPSPCSLGLPPGHALQDILVHTPSVLALLAP
FT PG (in isoform 2).
FT /FTId=VSP_037604.
FT VAR_SEQ 514 514 K -> KQ (in isoform 3).
FT /FTId=VSP_034684.
FT VARIANT 713 713 V -> M (in a breast cancer sample;
FT somatic mutation).
FT /FTId=VAR_035503.
FT VARIANT 883 883 K -> N (in dbSNP:rs35536878).
FT /FTId=VAR_033600.
FT VARIANT 915 915 Q -> H (in dbSNP:rs3814405).
FT /FTId=VAR_033601.
FT CONFLICT 461 461 Q -> K (in Ref. 2; AAQ88694).
FT STRAND 717 725
FT STRAND 728 734
FT HELIX 737 740
FT STRAND 746 754
FT HELIX 760 762
FT STRAND 764 769
FT STRAND 774 777
FT STRAND 785 794
FT STRAND 805 808
SQ SEQUENCE 1114 AA; 121059 MW; BDA9021D39CFE3BC CRC64;
MLRGTMTAWR GMRPEVTLAC LLLATAGCFA DLNEVPQVTV QPASTVQKPG GTVILGCVVE
PPRMNVTWRL NGKELNGSDD ALGVLITHGT LVITALNNHT VGRYQCVARM PAGAVASVPA
TVTLANLQDF KLDVQHVIEV DEGNTAVIAC HLPESHPKAQ VRYSVKQEWL EASRGNYLIM
PSGNLQIVNA SQEDEGMYKC AAYNPVTQEV KTSGSSDRLR VRRSTAEAAR IIYPPEAQTI
IVTKGQSLIL ECVASGIPPP RVTWAKDGSS VTGYNKTRFL LSNLLIDTTS EEDSGTYRCM
ADNGVGQPGA AVILYNVQVF EPPEVTMELS QLVIPWGQSA KLTCEVRGNP PPSVLWLRNA
VPLISSQRLR LSRRALRVLS MGPEDEGVYQ CMAENEVGSA HAVVQLRTSR PSITPRLWQD
AELATGTPPV SPSKLGNPEQ MLRGQPALPR PPTSVGPASP QCPGEKGQGA PAEAPIILSS
PRTSKTDSYE LVWRPRHEGS GRAPILYYVV KHRKVTNSSD DWTISGIPAN QHRLTLTRLD
PGSLYEVEMA AYNCAGEGQT AMVTFRTGRR PKPEIMASKE QQIQRDDPGA SPQSSSQPDH
GRLSPPEAPD RPTISTASET SVYVTWIPRG NGGFPIQSFR VEYKKLKKVG DWILATSAIP
PSRLSVEITG LEKGTSYKFR VRALNMLGES EPSAPSRPYV VSGYSGRVYE RPVAGPYITF
TDAVNETTIM LKWMYIPASN NNTPIHGFYI YYRPTDSDND SDYKKDMVEG DKYWHSISHL
QPETSYDIKM QCFNEGGESE FSNVMICETK ARKSSGQPGR LPPPTLAPPQ PPLPETIERP
VGTGAMVARS SDLPYLIVGV VLGSIVLIIV TFIPFCLWRA WSKQKHTTDL GFPRSALPPS
CPYTMVPLGG LPGHQASGQP YLSGISGRAC ANGIHMNRGC PSAAVGYPGM KPQQHCPGEL
QQQSDTSSLL RQTHLGNGYD PQSHQITRGP KSSPDEGSFL YTLPDDSTHQ LLQPHHDCCQ
RQEQPAAVGQ SGVRRAPDSP VLEAVWDPPF HSGPPCCLGL VPVEEVDSPD SCQVSGGDWC
PQHPVGAYVG QEPGMQLSPG PLVRVSFETP PLTI
//
