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O95965

- ITGBL_HUMAN

UniProt

O95965 - ITGBL_HUMAN

Protein

Integrin beta-like protein 1

Gene

ITGBL1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 129 (01 Oct 2014)
      Sequence version 1 (01 May 1999)
      Previous versions | rss
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    Functioni

    GO - Biological processi

    1. cell adhesion Source: ProtInc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Integrin beta-like protein 1
    Alternative name(s):
    Osteoblast-specific cysteine-rich protein
    Ten integrin EGF-like repeat domain-containing protein
    Gene namesi
    Name:ITGBL1
    Synonyms:OSCP, TIED
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 13

    Organism-specific databases

    HGNCiHGNC:6164. ITGBL1.

    Subcellular locationi

    Secreted Curated

    GO - Cellular componenti

    1. extracellular region Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Secreted

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA29963.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2323Sequence AnalysisAdd
    BLAST
    Chaini24 – 494471Integrin beta-like protein 1PRO_5000054386Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi405 – 4051N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiO95965.
    PaxDbiO95965.
    PRIDEiO95965.

    Expressioni

    Tissue specificityi

    Widely expressed in many tissues, but readily detectable only in aorta.1 Publication

    Gene expression databases

    ArrayExpressiO95965.
    BgeeiO95965.
    CleanExiHS_ITGBL1.
    GenevestigatoriO95965.

    Organism-specific databases

    HPAiHPA005676.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000365351.

    Structurei

    3D structure databases

    ProteinModelPortaliO95965.
    SMRiO95965. Positions 35-486.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati51 – 9545IAdd
    BLAST
    Repeati96 – 14247IIAdd
    BLAST
    Repeati143 – 18442IIIAdd
    BLAST
    Repeati185 – 23046IVAdd
    BLAST
    Repeati231 – 27545VAdd
    BLAST
    Repeati276 – 32651VIAdd
    BLAST
    Repeati327 – 36741VIIAdd
    BLAST
    Repeati368 – 41447VIIIAdd
    BLAST
    Repeati415 – 45440IXAdd
    BLAST
    Repeati455 – 49440XAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni51 – 494444Cysteine-rich tandem repeatsAdd
    BLAST

    Domaini

    Contains ten tandem EGF-like repeats strikingly similar to those found in the cysteine rich 'stalk-like' structure of integrin beta-subunits.

    Keywords - Domaini

    EGF-like domain, Repeat, Signal

    Phylogenomic databases

    eggNOGiNOG305073.
    HOGENOMiHOG000113115.
    HOVERGENiHBG052797.
    InParanoidiO95965.
    OMAiLCQHPRK.
    OrthoDBiEOG7ZWD1H.
    PhylomeDBiO95965.
    TreeFamiTF332636.

    Family and domain databases

    InterProiIPR000742. EG-like_dom.
    IPR013111. EGF_extracell.
    IPR027070. Integrin_b-like_p1.
    IPR015812. Integrin_bsu.
    [Graphical view]
    PANTHERiPTHR10082. PTHR10082. 1 hit.
    PTHR10082:SF3. PTHR10082:SF3. 1 hit.
    PfamiPF07974. EGF_2. 4 hits.
    [Graphical view]
    SMARTiSM00181. EGF. 1 hit.
    [Graphical view]
    PROSITEiPS00022. EGF_1. 5 hits.
    PS01186. EGF_2. 5 hits.
    PS00243. INTEGRIN_BETA. 10 hits.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O95965-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MRPPGFRNFL LLASSLLFAG LSAVPQSFSP SLRSWPGAAC RLSRAESERR    50
    CRAPGQPPGA ALCHGRGRCD CGVCICHVTE PGMFFGPLCE CHEWVCETYD 100
    GSTCAGHGKC DCGKCKCDQG WYGDACQYPT NCDLTKKKSN QMCKNSQDII 150
    CSNAGTCHCG RCKCDNSDGS GLVYGKFCEC DDRECIDDET EEICGGHGKC 200
    YCGNCYCKAG WHGDKCEFQC DITPWESKRR CTSPDGKICS NRGTCVCGEC 250
    TCHDVDPTGD WGDIHGDTCE CDERDCRAVY DRYSDDFCSG HGQCNCGRCD 300
    CKAGWYGKKC EHPQSCTLSA EESIRKCQGS SDLPCSGRGK CECGKCTCYP 350
    PGDRRVYGKT CECDDRRCED LDGVVCGGHG TCSCGRCVCE RGWFGKLCQH 400
    PRKCNMTEEQ SKNLCESADG ILCSGKGSCH CGKCICSAEE WYISGEFCDC 450
    DDRDCDKHDG LICTGNGICS CGNCECWDGW NGNACEIWLG SEYP 494
    Length:494
    Mass (Da):53,921
    Last modified:May 1, 1999 - v1
    Checksum:i72E095D0BD4ECFF3
    GO
    Isoform 2 (identifier: O95965-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-141: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:353
    Mass (Da):38,666
    Checksum:i6C5A19BEBD3C8441
    GO
    Isoform 3 (identifier: O95965-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-105: MRPPGFRNFL...CETYDGSTCA → MNLVAVMGAFNK

    Note: No experimental confirmation available.

    Show »
    Length:401
    Mass (Da):43,909
    Checksum:i381A65DB123E0DCE
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti3 – 31P → S in BAF84029. (PubMed:14702039)Curated
    Sequence conflicti453 – 4531R → G in BAF84029. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti154 – 1541A → S.
    Corresponds to variant rs1140605 [ dbSNP | Ensembl ].
    VAR_039542

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 141141Missing in isoform 2. 1 PublicationVSP_054799Add
    BLAST
    Alternative sequencei1 – 105105MRPPG…GSTCA → MNLVAVMGAFNK in isoform 3. 1 PublicationVSP_054800Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF072752 mRNA. Translation: AAD17666.1.
    AK095875 mRNA. Translation: BAG53153.1.
    AK291340 mRNA. Translation: BAF84029.1.
    AK298571 mRNA. Translation: BAG60764.1.
    AE014293 Genomic DNA. Translation: AAN16024.1.
    AL139800, AL160153, AL355807 Genomic DNA. Translation: CAH71455.1.
    AL160153, AL139800, AL355807 Genomic DNA. Translation: CAH73400.1.
    AL355807, AL139800, AL160153 Genomic DNA. Translation: CAI14550.1.
    CH471085 Genomic DNA. Translation: EAX09052.1.
    BC036788 mRNA. Translation: AAH36788.2.
    AL359052 mRNA. Translation: CAB94388.1.
    CCDSiCCDS61361.1. [O95965-3]
    CCDS61362.1. [O95965-2]
    CCDS9499.1. [O95965-1]
    RefSeqiNP_001258683.1. NM_001271754.1. [O95965-2]
    NP_001258684.1. NM_001271755.1.
    NP_001258685.1. NM_001271756.1. [O95965-3]
    NP_004782.1. NM_004791.2. [O95965-1]
    XP_005254157.1. XM_005254100.2. [O95965-1]
    UniGeneiHs.696554.

    Genome annotation databases

    EnsembliENST00000376162; ENSP00000365332; ENSG00000198542. [O95965-3]
    ENST00000376180; ENSP00000365351; ENSG00000198542. [O95965-1]
    ENST00000545560; ENSP00000439903; ENSG00000198542. [O95965-2]
    GeneIDi9358.
    KEGGihsa:9358.
    UCSCiuc001vpb.4. human. [O95965-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF072752 mRNA. Translation: AAD17666.1 .
    AK095875 mRNA. Translation: BAG53153.1 .
    AK291340 mRNA. Translation: BAF84029.1 .
    AK298571 mRNA. Translation: BAG60764.1 .
    AE014293 Genomic DNA. Translation: AAN16024.1 .
    AL139800 , AL160153 , AL355807 Genomic DNA. Translation: CAH71455.1 .
    AL160153 , AL139800 , AL355807 Genomic DNA. Translation: CAH73400.1 .
    AL355807 , AL139800 , AL160153 Genomic DNA. Translation: CAI14550.1 .
    CH471085 Genomic DNA. Translation: EAX09052.1 .
    BC036788 mRNA. Translation: AAH36788.2 .
    AL359052 mRNA. Translation: CAB94388.1 .
    CCDSi CCDS61361.1. [O95965-3 ]
    CCDS61362.1. [O95965-2 ]
    CCDS9499.1. [O95965-1 ]
    RefSeqi NP_001258683.1. NM_001271754.1. [O95965-2 ]
    NP_001258684.1. NM_001271755.1.
    NP_001258685.1. NM_001271756.1. [O95965-3 ]
    NP_004782.1. NM_004791.2. [O95965-1 ]
    XP_005254157.1. XM_005254100.2. [O95965-1 ]
    UniGenei Hs.696554.

    3D structure databases

    ProteinModelPortali O95965.
    SMRi O95965. Positions 35-486.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000365351.

    Proteomic databases

    MaxQBi O95965.
    PaxDbi O95965.
    PRIDEi O95965.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000376162 ; ENSP00000365332 ; ENSG00000198542 . [O95965-3 ]
    ENST00000376180 ; ENSP00000365351 ; ENSG00000198542 . [O95965-1 ]
    ENST00000545560 ; ENSP00000439903 ; ENSG00000198542 . [O95965-2 ]
    GeneIDi 9358.
    KEGGi hsa:9358.
    UCSCi uc001vpb.4. human. [O95965-1 ]

    Organism-specific databases

    CTDi 9358.
    GeneCardsi GC13P102104.
    H-InvDB HIX0011436.
    HGNCi HGNC:6164. ITGBL1.
    HPAi HPA005676.
    MIMi 604234. gene.
    neXtProti NX_O95965.
    PharmGKBi PA29963.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG305073.
    HOGENOMi HOG000113115.
    HOVERGENi HBG052797.
    InParanoidi O95965.
    OMAi LCQHPRK.
    OrthoDBi EOG7ZWD1H.
    PhylomeDBi O95965.
    TreeFami TF332636.

    Miscellaneous databases

    GenomeRNAii 9358.
    NextBioi 35047.
    PROi O95965.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O95965.
    Bgeei O95965.
    CleanExi HS_ITGBL1.
    Genevestigatori O95965.

    Family and domain databases

    InterProi IPR000742. EG-like_dom.
    IPR013111. EGF_extracell.
    IPR027070. Integrin_b-like_p1.
    IPR015812. Integrin_bsu.
    [Graphical view ]
    PANTHERi PTHR10082. PTHR10082. 1 hit.
    PTHR10082:SF3. PTHR10082:SF3. 1 hit.
    Pfami PF07974. EGF_2. 4 hits.
    [Graphical view ]
    SMARTi SM00181. EGF. 1 hit.
    [Graphical view ]
    PROSITEi PS00022. EGF_1. 5 hits.
    PS01186. EGF_2. 5 hits.
    PS00243. INTEGRIN_BETA. 10 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and characterization of a novel beta integrin-related cDNA coding for the protein TIED ('ten beta integrin EGF-like repeat domains') that maps to chromosome band 13q33: a divergent stand-alone integrin stalk structure."
      Berg R.W., Leung E., Gough S., Morris C., Yao W.P., Wang S.X., Ni J., Krissansen G.W.
      Genomics 56:169-178(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
      Tissue: Umbilical vein.
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3).
      Tissue: Tongue.
    3. "Genetic and physiological data implicating the new human gene G72 and the gene for D-amino acid oxidase in schizophrenia."
      Chumakov I., Blumenfeld M., Guerassimenko O., Cavarec L., Palicio M., Abderrahim H., Bougueleret L., Barry C., Tanaka H., La Rosa P., Puech A., Tahri N., Cohen-Akenine A., Delabrosse S., Lissarrague S., Picard F.-P., Maurice K., Essioux L.
      , Millasseau P., Grel P., Debailleul V., Simon A.-M., Caterina D., Dufaure I., Malekzadeh K., Belova M., Luan J.-J., Bouillot M., Sambucy J.-L., Primas G., Saumier M., Boubkiri N., Martin-Saumier S., Nasroune M., Peixoto H., Delaye A., Pinchot V., Bastucci M., Guillou S., Chevillon M., Sainz-Fuertes R., Meguenni S., Aurich-Costa J., Cherif D., Gimalac A., Van Duijn C., Gauvreau D., Ouellette G., Fortier I., Raelson J., Sherbatich T., Riazanskay N., Rogaev E., Raeymaekers P., Aerssens J., Konings F., Luyten W., Macciardi F., Sham P.C., Straub R.E., Weinberger D.R., Cohen N., Cohen D.
      Proc. Natl. Acad. Sci. U.S.A. 99:13675-13680(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    4. "The DNA sequence and analysis of human chromosome 13."
      Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
      Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain.
    7. The European IMAGE consortium
      Submitted (JUN-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 383-494.

    Entry informationi

    Entry nameiITGBL_HUMAN
    AccessioniPrimary (citable) accession number: O95965
    Secondary accession number(s): A8K5M5
    , B3KTP1, B4DQ02, Q8N172, Q9NPR0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 18, 2008
    Last sequence update: May 1, 1999
    Last modified: October 1, 2014
    This is version 129 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 13
      Human chromosome 13: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

    External Data

    Dasty 3