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Q9UBM4

- OPT_HUMAN

UniProt

Q9UBM4 - OPT_HUMAN

Protein

Opticin

Gene

OPTC

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 125 (01 Oct 2014)
      Sequence version 1 (01 May 2000)
      Previous versions | rss
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    Functioni

    Binds collagen fibrils.By similarity

    GO - Molecular functioni

    1. extracellular matrix structural constituent Source: ProtInc

    GO - Biological processi

    1. negative regulation of angiogenesis Source: Ensembl

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Opticin
    Alternative name(s):
    Oculoglycan
    Gene namesi
    Name:OPTC
    Synonyms:OPT
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:8158. OPTC.

    Subcellular locationi

    GO - Cellular componenti

    1. proteinaceous extracellular matrix Source: ProtInc

    Keywords - Cellular componenti

    Extracellular matrix, Secreted

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA31947.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 1919By similarityAdd
    BLAST
    Chaini20 – 332313OpticinPRO_0000032765Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei71 – 711SulfotyrosineSequence Analysis
    Disulfide bondi289 ↔ 322By similarity
    Glycosylationi312 – 3121N-linked (GlcNAc...)1 Publication

    Post-translational modificationi

    O-glycosylated.1 Publication

    Keywords - PTMi

    Disulfide bond, Glycoprotein, Sulfation

    Proteomic databases

    PaxDbiQ9UBM4.
    PRIDEiQ9UBM4.

    PTM databases

    PhosphoSiteiQ9UBM4.

    Expressioni

    Tissue specificityi

    Retina, iris, ligament, skin and fetal liver.1 Publication

    Gene expression databases

    ArrayExpressiQ9UBM4.
    BgeeiQ9UBM4.
    CleanExiHS_OPTC.
    GenevestigatoriQ9UBM4.

    Organism-specific databases

    HPAiHPA034951.

    Interactioni

    Protein-protein interaction databases

    IntActiQ9UBM4. 1 interaction.
    STRINGi9606.ENSP00000356191.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UBM4.
    SMRiQ9UBM4. Positions 39-77, 126-315.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini116 – 15338LRRNTAdd
    BLAST
    Repeati154 – 17522LRR 1Add
    BLAST
    Repeati178 – 19922LRR 2Add
    BLAST
    Repeati202 – 22322LRR 3Add
    BLAST
    Repeati248 – 26922LRR 4Add
    BLAST
    Repeati270 – 29021LRR 5Add
    BLAST
    Repeati300 – 32021LRR 6Add
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi81 – 11232Ser/Thr-richAdd
    BLAST
    Compositional biasi128 – 14013Cys-richAdd
    BLAST

    Sequence similaritiesi

    Contains 6 LRR (leucine-rich) repeats.Curated
    Contains 1 LRRNT domain.Curated

    Keywords - Domaini

    Leucine-rich repeat, Repeat, Signal

    Phylogenomic databases

    eggNOGiNOG267223.
    HOGENOMiHOG000273909.
    HOVERGENiHBG006850.
    InParanoidiQ9UBM4.
    KOiK08128.
    OMAiFPSAYFC.
    OrthoDBiEOG757CXS.
    PhylomeDBiQ9UBM4.
    TreeFamiTF351924.

    Family and domain databases

    InterProiIPR001611. Leu-rich_rpt.
    IPR003591. Leu-rich_rpt_typical-subtyp.
    IPR000372. LRR-contain_N.
    [Graphical view]
    PfamiPF13855. LRR_8. 1 hit.
    [Graphical view]
    SMARTiSM00369. LRR_TYP. 1 hit.
    SM00013. LRRNT. 1 hit.
    [Graphical view]
    PROSITEiPS51450. LRR. 4 hits.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

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

    Q9UBM4-1 [UniParc]FASTAAdd to Basket

    « Hide

    MRLLAFLSLL ALVLQETGTA SLPRKERKRR EEQMPREGDS FEVLPLRNDV    50
    LNPDNYGEVI DLSNYEELTD YGDQLPEVKV TSLAPATSIS PAKSTTAPGT 100
    PSSNPTMTRP TTAGLLLSSQ PNHGLPTCLV CVCLGSSVYC DDIDLEDIPP 150
    LPRRTAYLYA RFNRISRIRA EDFKGLTKLK RIDLSNNLIS SIDNDAFRLL 200
    HALQDLILPE NQLEALPVLP SGIEFLDVRL NRLQSSGIQP AAFRAMEKLQ 250
    FLYLSDNLLD SIPGPLPLSL RSVHLQNNLI ETMQRDVFCD PEEHKHTRRQ 300
    LEDIRLDGNP INLSLFPSAY FCLPRLPIGR FT 332
    Length:332
    Mass (Da):37,261
    Last modified:May 1, 2000 - v1
    Checksum:i8060B4C46DF41C20
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti182 – 1821I → T.1 Publication
    Corresponds to variant rs139024490 [ dbSNP | Ensembl ].
    VAR_055228
    Natural varianti229 – 2291R → C.1 Publication
    Corresponds to variant rs150633473 [ dbSNP | Ensembl ].
    VAR_055229
    Natural varianti325 – 3251R → W.1 Publication
    Corresponds to variant rs56219555 [ dbSNP | Ensembl ].
    VAR_055230

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ133790 mRNA. Translation: CAB53459.1.
    AF161702 mRNA. Translation: AAD45900.1.
    AY077681 mRNA. Translation: AAL78286.1.
    AL391817 Genomic DNA. Translation: CAI17035.1.
    CH471067 Genomic DNA. Translation: EAW91482.1.
    BC074942 mRNA. Translation: AAH74942.1.
    BC074943 mRNA. Translation: AAH74943.1.
    CCDSiCCDS1439.1.
    RefSeqiNP_055174.1. NM_014359.3.
    UniGeneiHs.632468.

    Genome annotation databases

    EnsembliENST00000367222; ENSP00000356191; ENSG00000188770.
    GeneIDi26254.
    KEGGihsa:26254.
    UCSCiuc001gzu.1. human.

    Polymorphism databases

    DMDMi8928250.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ133790 mRNA. Translation: CAB53459.1 .
    AF161702 mRNA. Translation: AAD45900.1 .
    AY077681 mRNA. Translation: AAL78286.1 .
    AL391817 Genomic DNA. Translation: CAI17035.1 .
    CH471067 Genomic DNA. Translation: EAW91482.1 .
    BC074942 mRNA. Translation: AAH74942.1 .
    BC074943 mRNA. Translation: AAH74943.1 .
    CCDSi CCDS1439.1.
    RefSeqi NP_055174.1. NM_014359.3.
    UniGenei Hs.632468.

    3D structure databases

    ProteinModelPortali Q9UBM4.
    SMRi Q9UBM4. Positions 39-77, 126-315.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi Q9UBM4. 1 interaction.
    STRINGi 9606.ENSP00000356191.

    PTM databases

    PhosphoSitei Q9UBM4.

    Polymorphism databases

    DMDMi 8928250.

    Proteomic databases

    PaxDbi Q9UBM4.
    PRIDEi Q9UBM4.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000367222 ; ENSP00000356191 ; ENSG00000188770 .
    GeneIDi 26254.
    KEGGi hsa:26254.
    UCSCi uc001gzu.1. human.

    Organism-specific databases

    CTDi 26254.
    GeneCardsi GC01P203464.
    HGNCi HGNC:8158. OPTC.
    HPAi HPA034951.
    MIMi 605127. gene.
    neXtProti NX_Q9UBM4.
    PharmGKBi PA31947.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG267223.
    HOGENOMi HOG000273909.
    HOVERGENi HBG006850.
    InParanoidi Q9UBM4.
    KOi K08128.
    OMAi FPSAYFC.
    OrthoDBi EOG757CXS.
    PhylomeDBi Q9UBM4.
    TreeFami TF351924.

    Miscellaneous databases

    GeneWikii Opticin.
    GenomeRNAii 26254.
    NextBioi 48474.
    PROi Q9UBM4.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UBM4.
    Bgeei Q9UBM4.
    CleanExi HS_OPTC.
    Genevestigatori Q9UBM4.

    Family and domain databases

    InterProi IPR001611. Leu-rich_rpt.
    IPR003591. Leu-rich_rpt_typical-subtyp.
    IPR000372. LRR-contain_N.
    [Graphical view ]
    Pfami PF13855. LRR_8. 1 hit.
    [Graphical view ]
    SMARTi SM00369. LRR_TYP. 1 hit.
    SM00013. LRRNT. 1 hit.
    [Graphical view ]
    PROSITEi PS51450. LRR. 4 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Identification in vitreous and molecular cloning of opticin, a novel member of the family of leucine-rich repeat proteins of the extracellular matrix."
      Reardon A.J., Le Goff M., Briggs M.D., McLeod D., Sheehan J.K., Thornton D.J., Bishop P.N.
      J. Biol. Chem. 275:2123-2129(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Retina.
    2. "Cloning, modeling, and chromosomal localization for a small leucine-rich repeat proteoglycan (SLRP) family member expressed in human eye."
      Hobby P., Wyatt M.K., Gan W., Bernstein S., Tomarev S., Slingsby C., Wistow G.J.
      Mol. Vis. 6:72-78(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Retina.
    3. "Isolation of a novel iris-specific and leucine-rich repeat protein (oculoglycan) using differential selection."
      Friedman J.S., Ducharme R., Raymond V., Walter M.A.
      Invest. Ophthalmol. Vis. Sci. 41:2059-2066(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS THR-182; CYS-229 AND TRP-325, TISSUE SPECIFICITY.
    5. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "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].
    8. "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry."
      Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J., Smith R.D.
      J. Proteome Res. 4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-312.
      Tissue: Plasma.

    Entry informationi

    Entry nameiOPT_HUMAN
    AccessioniPrimary (citable) accession number: Q9UBM4
    Secondary accession number(s): Q5T2G4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 1, 2000
    Last sequence update: May 1, 2000
    Last modified: October 1, 2014
    This is version 125 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 1
      Human chromosome 1: 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
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3