ITGBL_HUMAN
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 03-AUG-2022, entry version 181.
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; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC 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 coding
RT for the protein TIED ('ten beta integrin EGF-like repeat domains') that
RT maps to chromosome band 13q33: a divergent stand-alone integrin stalk
RT 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., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., 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., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA 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., Puech A.,
RA Tahri N., Cohen-Akenine A., Delabrosse S., Lissarrague S., Picard F.-P.,
RA Maurice K., Essioux L., Millasseau P., Grel P., Debailleul V., Simon A.-M.,
RA Caterina D., Dufaure I., Malekzadeh K., Belova M., Luan J.-J., Bouillot M.,
RA Sambucy J.-L., Primas G., Saumier M., Boubkiri N., Martin-Saumier S.,
RA Nasroune M., Peixoto H., Delaye A., Pinchot V., Bastucci M., Guillou S.,
RA Chevillon M., Sainz-Fuertes R., Meguenni S., Aurich-Costa J., Cherif D.,
RA Gimalac A., Van Duijn C., Gauvreau D., Ouellette G., Fortier I.,
RA Raelson J., Sherbatich T., Riazanskay N., Rogaev E., Raeymaekers P.,
RA Aerssens J., 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 the
RT 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., Griffiths-Jones S.,
RA Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P.,
RA Ambrose K.D., Andrews D.T., Ashwell R.I.S., Babbage A.K., Bagguley C.L.,
RA Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P.,
RA Bray-Allen S., 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., Clegg S.C.,
RA Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P.,
RA Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L.,
RA Frankish A.G., Frankland J., French L., Garner P., Garnett J.,
RA Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M.,
RA Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D.,
RA Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D.,
RA Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J.,
RA Martin S., 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., Pelan S.,
RA Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R.,
RA Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W.,
RA Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P.,
RA Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L.,
RA Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R.,
RA 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., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., 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 project:
RT 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 Name=3;
CC IsoId=O95965-3; Sequence=VSP_054800;
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 integrin
CC beta-subunits.
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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 AlphaFoldDB; O95965; -.
DR BioGRID; 114760; 2.
DR IntAct; O95965; 1.
DR MINT; O95965; -.
DR STRING; 9606.ENSP00000365351; -.
DR TCDB; 9.B.87.1.25; the selenoprotein p receptor (selp-receptor) family.
DR GlyGen; O95965; 1 site.
DR iPTMnet; O95965; -.
DR PhosphoSitePlus; O95965; -.
DR BioMuta; ITGBL1; -.
DR jPOST; O95965; -.
DR MassIVE; O95965; -.
DR MaxQB; O95965; -.
DR PaxDb; O95965; -.
DR PeptideAtlas; O95965; -.
DR PRIDE; O95965; -.
DR ProteomicsDB; 3685; -.
DR ProteomicsDB; 4831; -.
DR ProteomicsDB; 51147; -. [O95965-1]
DR TopDownProteomics; O95965-1; -. [O95965-1]
DR Antibodypedia; 1503; 97 antibodies from 21 providers.
DR DNASU; 9358; -.
DR Ensembl; ENST00000376162.7; ENSP00000365332.3; ENSG00000198542.15. [O95965-3]
DR Ensembl; ENST00000376180.8; ENSP00000365351.3; ENSG00000198542.15. [O95965-1]
DR Ensembl; ENST00000545560.6; ENSP00000439903.1; ENSG00000198542.15. [O95965-2]
DR GeneID; 9358; -.
DR KEGG; hsa:9358; -.
DR MANE-Select; ENST00000376180.8; ENSP00000365351.3; NM_004791.3; NP_004782.1.
DR UCSC; uc001vpb.5; human. [O95965-1]
DR CTD; 9358; -.
DR DisGeNET; 9358; -.
DR GeneCards; ITGBL1; -.
DR HGNC; HGNC:6164; ITGBL1.
DR HPA; ENSG00000198542; Low tissue specificity.
DR MIM; 604234; gene.
DR neXtProt; NX_O95965; -.
DR OpenTargets; ENSG00000198542; -.
DR PharmGKB; PA29963; -.
DR VEuPathDB; HostDB:ENSG00000198542; -.
DR eggNOG; KOG1226; Eukaryota.
DR GeneTree; ENSGT00980000198528; -.
DR HOGENOM; CLU_043045_0_0_1; -.
DR InParanoid; O95965; -.
DR OMA; CGNDCKK; -.
DR PhylomeDB; O95965; -.
DR TreeFam; TF332636; -.
DR PathwayCommons; O95965; -.
DR Reactome; R-HSA-8941332; RUNX2 regulates genes involved in cell migration.
DR SignaLink; O95965; -.
DR BioGRID-ORCS; 9358; 7 hits in 1071 CRISPR screens.
DR ChiTaRS; ITGBL1; human.
DR GenomeRNAi; 9358; -.
DR Pharos; O95965; Tbio.
DR PRO; PR:O95965; -.
DR Proteomes; UP000005640; Chromosome 13.
DR RNAct; O95965; protein.
DR Bgee; ENSG00000198542; Expressed in frontal pole and 167 other tissues.
DR ExpressionAtlas; O95965; baseline and differential.
DR Genevisible; O95965; HS.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR GO; GO:0005925; C:focal adhesion; 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; EGF-like domain; Glycoprotein; Reference proteome;
KW Repeat; Secreted; Signal.
FT SIGNAL 1..23
FT /evidence="ECO:0000255"
FT CHAIN 24..494
FT /note="Integrin beta-like protein 1"
FT /id="PRO_5000054386"
FT REPEAT 51..95
FT /note="I"
FT REPEAT 96..142
FT /note="II"
FT REPEAT 143..184
FT /note="III"
FT REPEAT 185..230
FT /note="IV"
FT REPEAT 231..275
FT /note="V"
FT REPEAT 276..326
FT /note="VI"
FT REPEAT 327..367
FT /note="VII"
FT REPEAT 368..414
FT /note="VIII"
FT REPEAT 415..454
FT /note="IX"
FT REPEAT 455..494
FT /note="X"
FT REGION 51..494
FT /note="Cysteine-rich tandem repeats"
FT CARBOHYD 405
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..141
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_054799"
FT VAR_SEQ 1..105
FT /note="MRPPGFRNFLLLASSLLFAGLSAVPQSFSPSLRSWPGAACRLSRAESERRCR
FT APGQPPGAALCHGRGRCDCGVCICHVTEPGMFFGPLCECHEWVCETYDGSTCA -> MN
FT LVAVMGAFNK (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_054800"
FT VARIANT 154
FT /note="A -> S (in dbSNP:rs1140605)"
FT /id="VAR_039542"
FT CONFLICT 3
FT /note="P -> S (in Ref. 2; BAF84029)"
FT /evidence="ECO:0000305"
FT CONFLICT 453
FT /note="R -> G (in Ref. 2; BAF84029)"
FT /evidence="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
