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Q9UBM4 (OPT_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 124. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Opticin
Alternative name(s):
Oculoglycan
Gene names
Name:OPTC
Synonyms:OPT
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length332 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Binds collagen fibrils By similarity.

Subcellular location

Secretedextracellular spaceextracellular matrix By similarity.

Tissue specificity

Retina, iris, ligament, skin and fetal liver. Ref.4

Post-translational modification

O-glycosylated Probable.

Sequence similarities

Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class III subfamily.

Contains 6 LRR (leucine-rich) repeats.

Contains 1 LRRNT domain.

Ontologies

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1919 By similarity
Chain20 – 332313Opticin
PRO_0000032765

Regions

Domain116 – 15338LRRNT
Repeat154 – 17522LRR 1
Repeat178 – 19922LRR 2
Repeat202 – 22322LRR 3
Repeat248 – 26922LRR 4
Repeat270 – 29021LRR 5
Repeat300 – 32021LRR 6
Compositional bias81 – 11232Ser/Thr-rich
Compositional bias128 – 14013Cys-rich

Amino acid modifications

Modified residue711Sulfotyrosine Potential
Glycosylation3121N-linked (GlcNAc...) Ref.8
Disulfide bond289 ↔ 322 By similarity

Natural variations

Natural variant1821I → T. Ref.4
Corresponds to variant rs139024490 [ dbSNP | Ensembl ].
VAR_055228
Natural variant2291R → C. Ref.4
Corresponds to variant rs150633473 [ dbSNP | Ensembl ].
VAR_055229
Natural variant3251R → W. Ref.4
Corresponds to variant rs56219555 [ dbSNP | Ensembl ].
VAR_055230

Sequences

Sequence LengthMass (Da)Tools
Q9UBM4 [UniParc].

Last modified May 1, 2000. Version 1.
Checksum: 8060B4C46DF41C20

FASTA33237,261
        10         20         30         40         50         60 
MRLLAFLSLL ALVLQETGTA SLPRKERKRR EEQMPREGDS FEVLPLRNDV LNPDNYGEVI 

        70         80         90        100        110        120 
DLSNYEELTD YGDQLPEVKV TSLAPATSIS PAKSTTAPGT PSSNPTMTRP TTAGLLLSSQ 

       130        140        150        160        170        180 
PNHGLPTCLV CVCLGSSVYC DDIDLEDIPP LPRRTAYLYA RFNRISRIRA EDFKGLTKLK 

       190        200        210        220        230        240 
RIDLSNNLIS SIDNDAFRLL HALQDLILPE NQLEALPVLP SGIEFLDVRL NRLQSSGIQP 

       250        260        270        280        290        300 
AAFRAMEKLQ FLYLSDNLLD SIPGPLPLSL RSVHLQNNLI ETMQRDVFCD PEEHKHTRRQ 

       310        320        330 
LEDIRLDGNP INLSLFPSAY FCLPRLPIGR FT 

« Hide

References

« Hide 'large scale' references
[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]"Protein localization in the human eye and genetic screen of opticin."
Friedman J.S., Faucher M., Hiscott P., Biron V.L., Malenfant M., Turcotte P., Raymond V., Walter M.A.
Hum. Mol. Genet. 11:1333-1342(2002) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS1439.1.
RefSeqNP_055174.1. NM_014359.3.
UniGeneHs.632468.

3D structure databases

ProteinModelPortalQ9UBM4.
SMRQ9UBM4. Positions 39-77, 126-315.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActQ9UBM4. 1 interaction.
STRING9606.ENSP00000356191.

PTM databases

PhosphoSiteQ9UBM4.

Polymorphism databases

DMDM8928250.

Proteomic databases

PaxDbQ9UBM4.
PRIDEQ9UBM4.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000367222; ENSP00000356191; ENSG00000188770.
GeneID26254.
KEGGhsa:26254.
UCSCuc001gzu.1. human.

Organism-specific databases

CTD26254.
GeneCardsGC01P203464.
HGNCHGNC:8158. OPTC.
HPAHPA034951.
MIM605127. gene.
neXtProtNX_Q9UBM4.
PharmGKBPA31947.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG267223.
HOGENOMHOG000273909.
HOVERGENHBG006850.
InParanoidQ9UBM4.
KOK08128.
OMAFPSAYFC.
OrthoDBEOG757CXS.
PhylomeDBQ9UBM4.
TreeFamTF351924.

Gene expression databases

ArrayExpressQ9UBM4.
BgeeQ9UBM4.
CleanExHS_OPTC.
GenevestigatorQ9UBM4.

Family and domain databases

InterProIPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
IPR000372. LRR-contain_N.
[Graphical view]
PfamPF13855. LRR_8. 1 hit.
[Graphical view]
SMARTSM00369. LRR_TYP. 1 hit.
SM00013. LRRNT. 1 hit.
[Graphical view]
PROSITEPS51450. LRR. 4 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiOpticin.
GenomeRNAi26254.
NextBio48474.
PROQ9UBM4.
SOURCESearch...

Entry information

Entry nameOPT_HUMAN
AccessionPrimary (citable) accession number: Q9UBM4
Secondary accession number(s): Q5T2G4
Entry history
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: May 1, 2000
Last modified: July 9, 2014
This is version 124 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM