IMPG1 - interphotoreceptor matrix proteoglycan 1 Gene
Also Known as RP91; VMD4; GP147; SPACR; IPM150
Species: Homo sapiens
About IMPG1
This gene has 4 transcripts (splice variants), 263 orthologues, 1 paralogue and is associated with 6 phenotypes. Low expression observed in reference dataset.
Summary
This gene encodes a protein that is a major component of the retinal interphotoreceptor matrix. The encoded protein is a proteoglycan that is thought to play a role in maintaining viability of photoreceptor cells and in adhesion of the neural retina to the retinal pigment epithelium. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
IMPG1 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001282368.2 | NP_001269297.1 | interphotoreceptor matrix proteoglycan 1 isoform 2 precursor |
| NM_001563.4 | NP_001554.2 | interphotoreceptor matrix proteoglycan 1 isoform 1 precursor |
IMPG1 Protein Structure
SEA: SEA domain (233 - 335)
SEA: SEA domain (574 - 674)
- 0
- 200
- 400
- 600
- 797 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
interphotoreceptor matrix proteoglycan 1 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Macular Dystrophy, Vitelliform, 4 |
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| Retinitis Pigmentosa 91 |
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| Vitelliform Macular Dystrophy |
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| Macular Dystrophy, Vitelliform, 3 |
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| Macular Dystrophy, Vitelliform, 2 |
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| Isolated Macular Dystrophy |
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| Retinitis Pigmentosa |
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| Cone-Rod Dystrophy 2 |
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| Macular Dystrophy, Concentric Annular |
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| Retinal Disease |
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| Kahrizi Syndrome |
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| Fundus Dystrophy |
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| Cone-Rod Dystrophy 3 |
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| Bestrophinopathy, Autosomal Recessive |
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| Nasal Cavity Squamous Cell Carcinoma |
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| Cone-Rod Dystrophy 7 |
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| Vitreoretinochoroidopathy |
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| Basal Laminar Drusen |
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| Macular Degeneration, Age-Related, 1 |
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| Stargardt Disease |
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| Congenital Stationary Night Blindness |
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| Leber Plus Disease |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | IMPG1 | VGNC | VGNC:104405 |
| Mus musculus | IMPG1 | MGD | MGI:1926876 |
| Canis familiaris | IMPG1 | VGNC | VGNC:42012 |
| Rattus norvegicus | IMPG1 | RGD | RGD:620499 |
| Felis catus | IMPG1 | VGNC | VGNC:67799 |
| Others | IMPG1 | NCBI |