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Q9UBM4

- OPT_HUMAN

UniProt

Q9UBM4 - OPT_HUMAN

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Protein

Opticin

Gene

OPTC

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

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
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiQ9UBM4.
CleanExiHS_OPTC.
ExpressionAtlasiQ9UBM4. baseline.
GenevestigatoriQ9UBM4.

Organism-specific databases

HPAiHPA034951.

Interactioni

Protein-protein interaction databases

IntActiQ9UBM4. 1 interaction.
STRINGi9606.ENSP00000356191.

Structurei

3D structure databases

ProteinModelPortaliQ9UBM4.
SMRiQ9UBM4. Positions 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.
GeneTreeiENSGT00730000110781.
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

        10         20         30         40         50
MRLLAFLSLL ALVLQETGTA SLPRKERKRR EEQMPREGDS FEVLPLRNDV
60 70 80 90 100
LNPDNYGEVI DLSNYEELTD YGDQLPEVKV TSLAPATSIS PAKSTTAPGT
110 120 130 140 150
PSSNPTMTRP TTAGLLLSSQ PNHGLPTCLV CVCLGSSVYC DDIDLEDIPP
160 170 180 190 200
LPRRTAYLYA RFNRISRIRA EDFKGLTKLK RIDLSNNLIS SIDNDAFRLL
210 220 230 240 250
HALQDLILPE NQLEALPVLP SGIEFLDVRL NRLQSSGIQP AAFRAMEKLQ
260 270 280 290 300
FLYLSDNLLD SIPGPLPLSL RSVHLQNNLI ETMQRDVFCD PEEHKHTRRQ
310 320 330
LEDIRLDGNP INLSLFPSAY FCLPRLPIGR FT
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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 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.
GeneTreei ENSGT00730000110781.
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

Bgeei Q9UBM4.
CleanExi HS_OPTC.
ExpressionAtlasi Q9UBM4. baseline.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 127 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