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    Optc opticin [ Mus musculus (house mouse) ]

    Gene ID: 269120, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Optcprovided by MGI
    Official Full Name
    opticinprovided by MGI
    Primary source
    MGI:MGI:2151113
    See related
    Ensembl:ENSMUSG00000010311 AllianceGenome:MGI:2151113
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Summary
    Involved in collagen fibril organization. Acts upstream of or within negative regulation of angiogenesis. Located in extracellular matrix. Is expressed in ciliary body; ciliary epithelium; cortical plate; and retina. Orthologous to human OPTC (opticin). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in bladder adult (RPKM 16.2), stomach adult (RPKM 3.6) and 7 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Optc in Genome Data Viewer
    Location:
    1 E4; 1 58.02 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (133824937..133837344, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (133897193..133909688, complement)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 41954 Neighboring gene predicted gene 28441 Neighboring gene STARR-seq mESC enhancer starr_02307 Neighboring gene predicted gene, 31515 Neighboring gene proline arginine-rich end leucine-rich repeat Neighboring gene predicted gene 1627

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Analysis of opticin binding to collagen fibrils identifies a single binding site in the gap region and a high specificity towards thin heterotypic fibrils containing collagens II, and XI or V/XI. Hansen U, et al. PLoS One, 2020. PMID 32764753, Free PMC Article
    2. In vivo effect of opticin deficiency in cartilage in a surgically induced mouse model of osteoarthritis. Farrán A, et al. Sci Rep, 2018 Jan 11. PMID 29323130, Free PMC Article
    3. Opticin exerts its anti-angiogenic activity by regulating extracellular matrix adhesiveness. Le Goff MM, et al. J Biol Chem, 2012 Aug 10. PMID 22669977, Free PMC Article
    4. The vitreous glycoprotein opticin inhibits preretinal neovascularization. Le Goff MM, et al. Invest Ophthalmol Vis Sci, 2012 Jan 25. PMID 22159013, Free PMC Article
    5. Protein localization in the human eye and genetic screen of opticin. Friedman JS, et al. Hum Mol Genet, 2002 May 15. PMID 12019215

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Analysis of opticin binding to collagen fibrils identifies a single binding site in the gap region and a high specificity towards thin heterotypic fibrils containing collagens II, and XI or V/XI.
      Title: Analysis of opticin binding to collagen fibrils identifies a single binding site in the gap region and a high specificity towards thin heterotypic fibrils containing collagens II, and XI or V/XI.
    2. opticin binds to collagen and thereby competitively inhibits endothelial cell interactions with collagen via alpha(1)beta(1) and alpha(2)beta(1) integrins, thereby preventing the strong adhesion that is required for proangiogenic signaling via these integrins.
      Title: Opticin exerts its anti-angiogenic activity by regulating extracellular matrix adhesiveness.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (1)  1 citation

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Clone Names

    • MGC117622

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in articular cartilage development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in bone development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in collagen fibril organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in collagen fibril organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular matrix ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in extracellular matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    opticin
    Names
    oculoglycan

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001160420.3 → NP_001153892.2  opticin isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AC131998, AC157924, FQ976559
      Consensus CDS
      CCDS48366.1
      UniProtKB/TrEMBL
      E9PUR1, Q14BF5, Q3U5A9
      Related
      ENSMUSP00000123262.4, ENSMUST00000153617.10

    2. NM_001160421.3 → NP_001153893.2  opticin isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AC131998, AC157924, FQ976559
      Consensus CDS
      CCDS48366.1
      UniProtKB/TrEMBL
      E9PUR1, Q14BF5, Q3U5A9
      Related
      ENSMUSP00000115661.3, ENSMUST00000149380.9

    3. NM_001160422.2 → NP_001153894.2  opticin isoform 4 precursor

      Status: VALIDATED

      Source sequence(s)
      AC131998
      UniProtKB/TrEMBL
      F6Z4X6, Q4KL49
      Related
      ENSMUSP00000117086.3, ENSMUST00000126123.3

    4. NM_001395557.3 → NP_001382486.2  opticin isoform 4 precursor

      Status: VALIDATED

      Source sequence(s)
      AC131998
      UniProtKB/TrEMBL
      F6Z4X6, Q4KL49

    5. NM_001395558.3 → NP_001382487.2  opticin isoform 1 precursor

      Status: VALIDATED

      Source sequence(s)
      AC131998, AC157924, FQ976559
      UniProtKB/Swiss-Prot
      Q8K3K2, Q91ZZ9, Q920A0
      UniProtKB/TrEMBL
      Q14BF5

    6. NM_001423441.1 → NP_001410370.1  opticin isoform 1 precursor

      Status: VALIDATED

      Source sequence(s)
      AC131998, AC157924, FQ976559
      UniProtKB/Swiss-Prot
      Q8K3K2, Q91ZZ9, Q920A0
      UniProtKB/TrEMBL
      Q14BF5

    7. NM_001423442.1 → NP_001410371.1  opticin isoform 5 precursor

      Status: VALIDATED

      Source sequence(s)
      AC131998, AC157924, FQ976559

    8. NM_001423443.1 → NP_001410372.1  opticin isoform 6 precursor

      Status: VALIDATED

      Source sequence(s)
      AC131998, AC157924, FQ976559

    9. NM_001423444.1 → NP_001410373.1  opticin isoform 4 precursor

      Status: VALIDATED

      Source sequence(s)
      AC131998
      UniProtKB/TrEMBL
      F6Z4X6, Q4KL49

    10. NM_001423445.1 → NP_001410374.1  opticin isoform 7 precursor

      Status: VALIDATED

      Source sequence(s)
      AC131998, AC157924, FQ976559

    11. NM_001423446.1 → NP_001410375.1  opticin isoform 8 precursor

      Status: VALIDATED

      Source sequence(s)
      AC131998

    12. NM_054076.4 → NP_473417.3  opticin isoform 1 precursor

      Status: VALIDATED

      Source sequence(s)
      AC131998, AC157924, FQ976559
      Consensus CDS
      CCDS15299.2
      UniProtKB/Swiss-Prot
      Q8K3K2, Q91ZZ9, Q920A0
      UniProtKB/TrEMBL
      Q14BF5
      Related
      ENSMUSP00000120568.4, ENSMUST00000124051.10

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000067.7 Reference GRCm39 C57BL/6J

      Range
      133824937..133837344 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030254589.2 → XP_030110449.1  opticin isoform X4

      Conserved Domains (3) summary
      PRK15387
      Location:131 → 310
      PRK15387; type III secretion system effector E3 ubiquitin transferase SspH2
      sd00031
      Location:208 → 231
      LRR_1; leucine-rich repeat [structural motif]
      pfam13855
      Location:207 → 288
      LRR_8; Leucine rich repeat

    2. XM_011248028.4 → XP_011246330.1  opticin isoform X3

      Conserved Domains (3) summary
      COG4886
      Location:164 → 355
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00031
      Location:237 → 260
      LRR_1; leucine-rich repeat [structural motif]
      pfam13855
      Location:238 → 295
      LRR_8; Leucine rich repeat

    3. XM_036165400.1 → XP_036021293.1  opticin isoform X1

      Conserved Domains (3) summary
      sd00031
      Location:237 → 260
      LRR_1; leucine-rich repeat [structural motif]
      pfam13855
      Location:238 → 295
      LRR_8; Leucine rich repeat
      cd21340
      Location:221 → 373
      PPP1R42; protein phosphatase 1 regulatory subunit 42

    4. XM_030254587.1 → XP_030110447.1  opticin isoform X2

      UniProtKB/TrEMBL
      G3UVW2
      Conserved Domains (2) summary
      sd00033
      Location:204 → 227
      LRR_RI; leucine-rich repeat [structural motif]
      cd21340
      Location:188 → 360
      PPP1R42; protein phosphatase 1 regulatory subunit 42

    5. XM_036165406.1 → XP_036021299.1  opticin isoform X5

      Conserved Domains (3) summary
      sd00031
      Location:204 → 227
      LRR_1; leucine-rich repeat [structural motif]
      pfam13855
      Location:205 → 262
      LRR_8; Leucine rich repeat
      cd21340
      Location:188 → 325
      PPP1R42; protein phosphatase 1 regulatory subunit 42

    RNA

    1. XR_878322.4 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q920A0.2 GenPept UniProtKB/Swiss-Prot:Q920A0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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