ID ITGBL_HUMAN Reviewed; 494 AA. AC O95965; A8K5M5; B3KTP1; B4DQ02; Q8N172; Q9NPR0; DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot. DT 01-MAY-1999, sequence version 1. DT 13-FEB-2019, entry version 162. DE RecName: Full=Integrin beta-like protein 1; DE AltName: Full=Osteoblast-specific cysteine-rich protein; DE AltName: Full=Ten integrin EGF-like repeat domain-containing protein; DE Flags: Precursor; GN Name=ITGBL1; Synonyms=OSCP, TIED; 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), AND TISSUE SPECIFICITY. RC TISSUE=Umbilical vein; RX PubMed=10051402; DOI=10.1006/geno.1998.5707; RA Berg R.W., Leung E., Gough S., Morris C., Yao W.P., Wang S.X., Ni J., RA Krissansen G.W.; RT "Cloning and characterization of a novel beta integrin-related cDNA RT coding for the protein TIED ('ten beta integrin EGF-like repeat RT domains') that maps to chromosome band 13q33: a divergent stand-alone RT integrin stalk structure."; RL Genomics 56:169-178(1999). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3). RC TISSUE=Tongue; 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 [3] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA]. RX PubMed=12364586; DOI=10.1073/pnas.182412499; RA Chumakov I., Blumenfeld M., Guerassimenko O., Cavarec L., Palicio M., RA Abderrahim H., Bougueleret L., Barry C., Tanaka H., La Rosa P., RA Puech A., Tahri N., Cohen-Akenine A., Delabrosse S., Lissarrague S., RA Picard F.-P., Maurice K., Essioux L., Millasseau P., Grel P., RA Debailleul V., Simon A.-M., Caterina D., Dufaure I., Malekzadeh K., RA Belova M., Luan J.-J., Bouillot M., Sambucy J.-L., Primas G., RA Saumier M., Boubkiri N., Martin-Saumier S., Nasroune M., Peixoto H., RA Delaye A., Pinchot V., Bastucci M., Guillou S., Chevillon M., RA Sainz-Fuertes R., Meguenni S., Aurich-Costa J., Cherif D., Gimalac A., RA Van Duijn C., Gauvreau D., Ouellette G., Fortier I., Raelson J., RA Sherbatich T., Riazanskay N., Rogaev E., Raeymaekers P., Aerssens J., RA Konings F., Luyten W., Macciardi F., Sham P.C., Straub R.E., RA Weinberger D.R., Cohen N., Cohen D.; RT "Genetic and physiological data implicating the new human gene G72 and RT the gene for D-amino acid oxidase in schizophrenia."; RL Proc. Natl. Acad. Sci. U.S.A. 99:13675-13680(2002). RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=15057823; DOI=10.1038/nature02379; RA Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., RA Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., RA Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., RA Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T., RA Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., RA Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., RA Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., RA Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., RA Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., RA Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., RA Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., RA Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., RA Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., RA Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., RA Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., RA King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., RA Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., RA Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., RA Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., RA Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., RA Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., RA Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., RA Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., RA Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., RA Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.; RT "The DNA sequence and analysis of human chromosome 13."; RL Nature 428:522-528(2004). RN [5] 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 (JUL-2005) to the EMBL/GenBank/DDBJ databases. RN [6] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). RC TISSUE=Brain; 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 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 383-494. RG The European IMAGE consortium; RL Submitted (JUN-2000) to the EMBL/GenBank/DDBJ databases. CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=3; CC Name=1; CC IsoId=O95965-1; Sequence=Displayed; CC Name=2; CC IsoId=O95965-2; Sequence=VSP_054799; CC Note=No experimental confirmation available.; CC Name=3; CC IsoId=O95965-3; Sequence=VSP_054800; CC Note=No experimental confirmation available.; CC -!- TISSUE SPECIFICITY: Widely expressed in many tissues, but readily CC detectable only in aorta. {ECO:0000269|PubMed:10051402}. CC -!- DOMAIN: Contains ten tandem EGF-like repeats strikingly similar to CC those found in the cysteine rich 'stalk-like' structure of CC integrin beta-subunits. CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC ----------------------------------------------------------------------- DR EMBL; AF072752; AAD17666.1; -; mRNA. DR EMBL; AK095875; BAG53153.1; -; mRNA. DR EMBL; AK291340; BAF84029.1; -; mRNA. DR EMBL; AK298571; BAG60764.1; -; mRNA. DR EMBL; AE014293; AAN16024.1; -; Genomic_DNA. DR EMBL; AL139800; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AL160153; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AL355807; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; CH471085; EAX09052.1; -; Genomic_DNA. DR EMBL; BC036788; AAH36788.2; -; mRNA. DR EMBL; AL359052; CAB94388.1; -; mRNA. DR CCDS; CCDS61361.1; -. [O95965-3] DR CCDS; CCDS61362.1; -. [O95965-2] DR CCDS; CCDS9499.1; -. [O95965-1] DR RefSeq; NP_001258683.1; NM_001271754.1. [O95965-2] DR RefSeq; NP_001258684.1; NM_001271755.1. DR RefSeq; NP_001258685.1; NM_001271756.1. [O95965-3] DR RefSeq; NP_004782.1; NM_004791.2. [O95965-1] DR RefSeq; XP_005254157.1; XM_005254100.4. [O95965-1] DR UniGene; Hs.696554; -. DR ProteinModelPortal; O95965; -. DR SMR; O95965; -. DR STRING; 9606.ENSP00000365351; -. DR iPTMnet; O95965; -. DR PhosphoSitePlus; O95965; -. DR BioMuta; ITGBL1; -. DR jPOST; O95965; -. DR MaxQB; O95965; -. DR PaxDb; O95965; -. DR PeptideAtlas; O95965; -. DR PRIDE; O95965; -. DR ProteomicsDB; 51147; -. DR TopDownProteomics; O95965-1; -. [O95965-1] DR Ensembl; ENST00000376162; ENSP00000365332; ENSG00000198542. [O95965-3] DR Ensembl; ENST00000376180; ENSP00000365351; ENSG00000198542. [O95965-1] DR Ensembl; ENST00000545560; ENSP00000439903; ENSG00000198542. [O95965-2] DR GeneID; 9358; -. DR KEGG; hsa:9358; -. DR UCSC; uc001vpb.5; human. [O95965-1] DR CTD; 9358; -. DR DisGeNET; 9358; -. DR EuPathDB; HostDB:ENSG00000198542.13; -. DR GeneCards; ITGBL1; -. DR H-InvDB; HIX0011436; -. DR HGNC; HGNC:6164; ITGBL1. DR HPA; HPA005676; -. DR MIM; 604234; gene. DR neXtProt; NX_O95965; -. DR OpenTargets; ENSG00000198542; -. DR PharmGKB; PA29963; -. DR eggNOG; KOG1226; Eukaryota. DR eggNOG; ENOG410XP60; LUCA. DR GeneTree; ENSGT00940000153730; -. DR HOGENOM; HOG000113115; -. DR HOVERGEN; HBG052797; -. DR InParanoid; O95965; -. DR OMA; CQYPTHC; -. DR OrthoDB; 18592at2759; -. DR PhylomeDB; O95965; -. DR TreeFam; TF332636; -. DR Reactome; R-HSA-8941332; RUNX2 regulates genes involved in cell migration. DR GenomeRNAi; 9358; -. DR PRO; PR:O95965; -. DR Proteomes; UP000005640; Chromosome 13. DR Bgee; ENSG00000198542; Expressed in 206 organ(s), highest expression level in tendon. DR ExpressionAtlas; O95965; baseline and differential. DR Genevisible; O95965; HS. DR GO; GO:0009986; C:cell surface; IBA:GO_Central. DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell. DR GO; GO:0005925; C:focal adhesion; IBA:GO_Central. DR GO; GO:0008305; C:integrin complex; IBA:GO_Central. DR GO; GO:0005886; C:plasma membrane; TAS:Reactome. DR GO; GO:0005178; F:integrin binding; IBA:GO_Central. DR GO; GO:0007155; P:cell adhesion; TAS:ProtInc. DR GO; GO:0033627; P:cell adhesion mediated by integrin; IBA:GO_Central. DR GO; GO:0016477; P:cell migration; IBA:GO_Central. DR GO; GO:0007160; P:cell-matrix adhesion; IBA:GO_Central. DR GO; GO:0007229; P:integrin-mediated signaling pathway; IBA:GO_Central. DR InterPro; IPR000742; EGF-like_dom. DR InterPro; IPR013111; EGF_extracell. DR InterPro; IPR027070; Integrin_b-like_p1. DR InterPro; IPR015812; Integrin_bsu. DR PANTHER; PTHR10082; PTHR10082; 1. DR PANTHER; PTHR10082:SF3; PTHR10082:SF3; 1. DR Pfam; PF07974; EGF_2; 4. DR SMART; SM00181; EGF; 6. DR PROSITE; PS00022; EGF_1; 5. DR PROSITE; PS01186; EGF_2; 5. DR PROSITE; PS00243; INTEGRIN_BETA; 10. PE 2: Evidence at transcript level; KW Alternative splicing; Complete proteome; EGF-like domain; KW Glycoprotein; Polymorphism; Reference proteome; Repeat; Secreted; KW Signal. FT SIGNAL 1 23 {ECO:0000255}. FT CHAIN 24 494 Integrin beta-like protein 1. FT /FTId=PRO_5000054386. FT REPEAT 51 95 I. FT REPEAT 96 142 II. FT REPEAT 143 184 III. FT REPEAT 185 230 IV. FT REPEAT 231 275 V. FT REPEAT 276 326 VI. FT REPEAT 327 367 VII. FT REPEAT 368 414 VIII. FT REPEAT 415 454 IX. FT REPEAT 455 494 X. FT REGION 51 494 Cysteine-rich tandem repeats. FT CARBOHYD 405 405 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT VAR_SEQ 1 141 Missing (in isoform 2). FT {ECO:0000303|PubMed:14702039}. FT /FTId=VSP_054799. FT VAR_SEQ 1 105 MRPPGFRNFLLLASSLLFAGLSAVPQSFSPSLRSWPGAACR FT LSRAESERRCRAPGQPPGAALCHGRGRCDCGVCICHVTEPG FT MFFGPLCECHEWVCETYDGSTCA -> MNLVAVMGAFNK FT (in isoform 3). FT {ECO:0000303|PubMed:14702039}. FT /FTId=VSP_054800. FT VARIANT 154 154 A -> S (in dbSNP:rs1140605). FT /FTId=VAR_039542. FT CONFLICT 3 3 P -> S (in Ref. 2; BAF84029). FT {ECO:0000305}. FT CONFLICT 453 453 R -> G (in Ref. 2; BAF84029). FT {ECO:0000305}. SQ SEQUENCE 494 AA; 53921 MW; 72E095D0BD4ECFF3 CRC64; MRPPGFRNFL LLASSLLFAG LSAVPQSFSP SLRSWPGAAC RLSRAESERR CRAPGQPPGA ALCHGRGRCD CGVCICHVTE PGMFFGPLCE CHEWVCETYD GSTCAGHGKC DCGKCKCDQG WYGDACQYPT NCDLTKKKSN QMCKNSQDII CSNAGTCHCG RCKCDNSDGS GLVYGKFCEC DDRECIDDET EEICGGHGKC YCGNCYCKAG WHGDKCEFQC DITPWESKRR CTSPDGKICS NRGTCVCGEC TCHDVDPTGD WGDIHGDTCE CDERDCRAVY DRYSDDFCSG HGQCNCGRCD CKAGWYGKKC EHPQSCTLSA EESIRKCQGS SDLPCSGRGK CECGKCTCYP PGDRRVYGKT CECDDRRCED LDGVVCGGHG TCSCGRCVCE RGWFGKLCQH PRKCNMTEEQ SKNLCESADG ILCSGKGSCH CGKCICSAEE WYISGEFCDC DDRDCDKHDG LICTGNGICS CGNCECWDGW NGNACEIWLG SEYP //