OPTC
Opticin
Also known as: OPT_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9UBM4
- Gene
- OPTC
- Ensembl
- ENSG00000188770
- Chromosome
- 1
- Canonical length
- 332 aa
- Protein class
- Predicted secreted proteins
- Secretome location
- Secreted in other tissues
- Quaternary structure
- Homodimer
OverviewNCBI Gene
Opticin belongs to class III of the small leucine-rich repeat protein (SLRP) family. Members of this family are typically associated with the extracellular matrix. Opticin is present in significant quantities in the vitreous of the eye and also localizes to the cornea, iris, ciliary body, optic nerve, choroid, retina, and fetal liver. Opticin may noncovalently bind collagen fibrils and regulate fibril morphology, spacing, and organization. The opticin gene is mapped to a region of chromosome 1 that is associated with the inherited eye diseases age-related macular degeneration (AMD) and posterior column ataxia with retinosa pigmentosa (AXPC1). [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
332 residues, UniProt reviewed canonical sequence.
>Q9UBM4|OPTC
1 MRLLAFLSLL ALVLQETGTA SLPRKERKRR EEQMPREGDS FEVLPLRNDV LNPDNYGEVI
61 DLSNYEELTD YGDQLPEVKV TSLAPATSIS PAKSTTAPGT PSSNPTMTRP TTAGLLLSSQ
121 PNHGLPTCLV CVCLGSSVYC DDIDLEDIPP LPRRTAYLYA RFNRISRIRA EDFKGLTKLK
181 RIDLSNNLIS SIDNDAFRLL HALQDLILPE NQLEALPVLP SGIEFLDVRL NRLQSSGIQP
241 AAFRAMEKLQ FLYLSDNLLD SIPGPLPLSL RSVHLQNNLI ETMQRDVFCD PEEHKHTRRQ
301 LEDIRLDGNP INLSLFPSAY FCLPRLPIGR FTLocalizationUniProt · AlphaFold · HPA
Whether an antibody against OPTC can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Secreted
- Secreted
- Yes
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.44
- Highest tissue expression
- 0.6 nTPM
Expression across tissuesHPA
Tissue
- retina: 0.6 nTPM
- testis: 0.4 nTPM
- colon: 0.2 nTPM
- endometrium: 0.2 nTPM
- epididymis: 0.2 nTPM
- cerebral cortex: 0.1 nTPM
Single-cell type
- epicardial cells: 21 nCPM
- retinal bipolar cells: 4 nCPM
- cardiomyocytes: 3.2 nCPM
- endometrial glandular cells: 3 nCPM
- lacrimal acinar cells: 2.7 nCPM
- schwann cells: 2.2 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- pons: 1.8 nTPM
- medulla oblongata: 1.7 nTPM
- midbrain: 1.5 nTPM
- thalamus: 1.4 nTPM
- amygdala: 1.2 nTPM
- basal ganglia: 1.2 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.81
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.53
- DepMap mean gene effect
- -0.04
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- angiogenesis
- articular cartilage development
- bone development
- collagen fibril organization
- negative regulation of angiogenesis
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads OPTC as an antibody target. Whether an autoantibody or antibody against OPTC could matter depends on whether native OPTC is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
OPTC is annotated as secreted, so native OPTC circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.
Annotation status
The present source text does not explicitly label OPTC as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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