OPTC opticin [Homo sapiens (human)] - Gene

Summary

Official Symbol: OPTCprovided by HGNC
Official Full Name: opticinprovided by HGNC
Primary source: HGNC:HGNC:8158
See related: Ensembl:ENSG00000188770 MIM:605127; AllianceGenome:HGNC:8158
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: OPT
Summary: 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]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 1q32.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (203494153..203508949)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (202757006..202772142)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (203463281..203478077)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

An interplay of microglia and matrix metalloproteinase MMP9 under hypoxic stress regulates the opticin expression in retina.
Title: An interplay of microglia and matrix metalloproteinase MMP9 under hypoxic stress regulates the opticin expression in retina.
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.
VEGF and hypoxia could decrease opticin protein levels in the human retinal pigment epithelium secretome, and that opticin may be an enzymatic substrate for MMP-2.
Title: Opticin production is reduced by hypoxia and VEGF in human retinal pigment epithelium via MMP-2 activation.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Human variation in alcohol response is influenced by variation in neuronal signaling genes.
OPTC and EPYC are unlikely to play a major role in high myopia.
Title: An evaluation of OPTC and EPYC as candidate genes for high myopia.
Observational study of gene-disease association. (HuGE Navigator)
Title: An evaluation of OPTC and EPYC as candidate genes for high myopia.
OPTC is a candidate gene for primary open-angle glaucoma
Title: Evaluation of the OPTC gene in primary open angle glaucoma: functional significance of a silent change.
localization in the human eye and genetic screen of opticin
Title: Protein localization in the human eye and genetic screen of opticin.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of opticin (OPTC) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:489842

NoName (e-PCR)
- UniSTS:482171

NoName (e-PCR)
- UniSTS:480651

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables extracellular matrix structural constituent	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in angiogenesis	IEA Inferred from Electronic Annotation more info
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	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of angiogenesis	IEA Inferred from Electronic Annotation more info

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 region	TAS Traceable Author Statement 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.

Genomic

NG_022886.1 RefSeqGene

Range

5011..19807

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_014359.4 → NP_055174.1 opticin precursor

See identical proteins and their annotated locations for NP_055174.1

Status: REVIEWED

Source sequence(s)

AJ133790, BF724878

Consensus CDS

CCDS1439.1

UniProtKB/Swiss-Prot

Q5T2G4, Q9UBM4

UniProtKB/TrEMBL

Q5T2G3

Related

ENSP00000356191.2, ENST00000367222.7

Conserved Domains (3) summary

sd00033
Location:155 → 178

LRR_RI; leucine-rich repeat [structural motif]

pfam13855
Location:153 → 213

LRR_8; Leucine rich repeat

cl26018
Location:115 → 327

NEL; C-terminal novel E3 ligase, LRR-interacting