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Aliases for IMPG1 Gene

Aliases for IMPG1 Gene

  • Interphotoreceptor Matrix Proteoglycan 1 2 3 3 5
  • Sialoprotein Associated With Cones And Rods 2 3 4
  • Interphotoreceptor Matrix Proteoglycan Of 150 KDa 3 4
  • IPM150 3 4
  • SPACR 3 4
  • IPM-150 4
  • GP147 3
  • VMD4 3

External Ids for IMPG1 Gene

Previous HGNC Symbols for IMPG1 Gene


Previous GeneCards Identifiers for IMPG1 Gene

  • GC06M076578
  • GC06M076626
  • GC06M076687
  • GC06M073829

Summaries for IMPG1 Gene

Entrez Gene Summary for IMPG1 Gene

  • 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]

GeneCards Summary for IMPG1 Gene

IMPG1 (Interphotoreceptor Matrix Proteoglycan 1) is a Protein Coding gene. Diseases associated with IMPG1 include Macular Dystrophy, Vitelliform, 4 and Macular Dystrophy, Vitelliform, 3. Among its related pathways are ERK Signaling and Integrin Pathway. Gene Ontology (GO) annotations related to this gene include extracellular matrix structural constituent. An important paralog of this gene is IMPG2.

UniProtKB/Swiss-Prot for IMPG1 Gene

  • May interact with hyaluronan which may serve to form a basic macromolecular scaffold comprising the insoluble interphotoreceptor matrix.

Gene Wiki entry for IMPG1 Gene

Additional gene information for IMPG1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IMPG1 Gene

Genomics for IMPG1 Gene

GeneHancer (GH) Regulatory Elements for IMPG1 Gene

Promoters and enhancers for IMPG1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J076072 Promoter 0.6 EPDnew 650.7 +0.0 25 0.1 POLR2A IMPG1 GC06M076073 GC06M076072 ENSG00000200040
GH06J077033 Enhancer 0.6 Ensembl ENCODE 4.1 -961.5 -961455 1.6 JUND POLR2A FOS IMPG1 PIR58750 GC06M077038 LOC105377862
GH06J075934 Promoter/Enhancer 1.2 Ensembl ENCODE 0.1 +137.7 137696 0.9 CTCF MXI1 TFAP4 PKNOX1 MAX ARID4B BACH1 SIN3A RAD21 ZNF335 ENSG00000200040 GC06M076072 GC06M076073 IMPG1
GH06J075993 Enhancer 0.4 ENCODE 0.2 +79.0 78961 0.7 SP1 USF1 ENSG00000200040 IMPG1 GC06M076073 GC06M076072
GH06J075986 Enhancer 0.2 ENCODE 0.2 +85.7 85732 0.7 ENSG00000200040 GC06M076073 IMPG1 GC06M076072
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IMPG1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the IMPG1 gene promoter:
  • FOXO3b
  • FOXO3a
  • FOXO3
  • FAC1
  • FOXL1
  • Nkx2-2
  • Lmo2
  • NF-1
  • NF-1/L
  • POU3F2

Genomic Locations for IMPG1 Gene

Genomic Locations for IMPG1 Gene
151,565 bases
Minus strand
151,564 bases
Minus strand

Genomic View for IMPG1 Gene

Genes around IMPG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IMPG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IMPG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IMPG1 Gene

Proteins for IMPG1 Gene

  • Protein details for IMPG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Interphotoreceptor matrix proteoglycan 1
    Protein Accession:
    Secondary Accessions:
    • A6NNZ6
    • O43686
    • O95094
    • Q68D53
    • Q9BWZ1

    Protein attributes for IMPG1 Gene

    797 amino acids
    Molecular mass:
    89387 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for IMPG1 Gene


neXtProt entry for IMPG1 Gene

Post-translational modifications for IMPG1 Gene

  • The N-terminus is blocked.
  • Highly glycosylated (N- and O-linked carbohydrates and sialic acid).
  • Glycosylation at Asn648, isoforms=630, Asn616, Asn592, Thr442, isoforms=432, Thr421, Thr403, isoforms=215, isoforms=191, isoforms=2143, and isoforms=42
  • Modification sites at PhosphoSitePlus

Other Protein References for IMPG1 Gene

No data available for DME Specific Peptides for IMPG1 Gene

Domains & Families for IMPG1 Gene

Gene Families for IMPG1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for IMPG1 Gene


Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with IMPG1: view

No data available for UniProtKB/Swiss-Prot for IMPG1 Gene

Function for IMPG1 Gene

Molecular function for IMPG1 Gene

UniProtKB/Swiss-Prot Function:
May interact with hyaluronan which may serve to form a basic macromolecular scaffold comprising the insoluble interphotoreceptor matrix.
GENATLAS Biochemistry:
interphotoreceptor matrix,not chondroitin 6-sulfate proteoglycan 1

Phenotypes From GWAS Catalog for IMPG1 Gene

Gene Ontology (GO) - Molecular Function for IMPG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent TAS 9691169
genes like me logo Genes that share ontologies with IMPG1: view
genes like me logo Genes that share phenotypes with IMPG1: view

Human Phenotype Ontology for IMPG1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for IMPG1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for IMPG1 Gene

Localization for IMPG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IMPG1 Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IMPG1 gene
Compartment Confidence
extracellular 5
plasma membrane 3
nucleus 2
mitochondrion 1
peroxisome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for IMPG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with IMPG1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for IMPG1 Gene

Pathways & Interactions for IMPG1 Gene

genes like me logo Genes that share pathways with IMPG1: view

Pathways by source for IMPG1 Gene

Interacting Proteins for IMPG1 Gene

Gene Ontology (GO) - Biological Process for IMPG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007601 visual perception TAS 9691169
genes like me logo Genes that share ontologies with IMPG1: view

No data available for SIGNOR curated interactions for IMPG1 Gene

Drugs & Compounds for IMPG1 Gene

No Compound Related Data Available

Transcripts for IMPG1 Gene

mRNA/cDNA for IMPG1 Gene

Unigene Clusters for IMPG1 Gene

Interphotoreceptor matrix proteoglycan 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for IMPG1 Gene

No ASD Table

Relevant External Links for IMPG1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for IMPG1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IMPG1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IMPG1 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x8.4), Brain - Caudate (basal ganglia) (x5.1), and Brain - Putamen (basal ganglia) (x4.5).

Protein differential expression in normal tissues from HIPED for IMPG1 Gene

This gene is overexpressed in Retina (64.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for IMPG1 Gene

Protein tissue co-expression partners for IMPG1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of IMPG1 Gene:


SOURCE GeneReport for Unigene cluster for IMPG1 Gene:


mRNA Expression by UniProt/SwissProt for IMPG1 Gene:

Tissue specificity: Abundantly expressed in retina where it is specifically expressed by cone and rod photoreceptor cells. Localizes to cone and rod photoreceptor cells surrounding the interphotoreceptor matrix of the retina.

Evidence on tissue expression from TISSUES for IMPG1 Gene

  • Eye(4.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IMPG1 Gene

Germ Layers:
  • ectoderm
  • nervous
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
  • peripheral nervous system
genes like me logo Genes that share expression patterns with IMPG1: view

Orthologs for IMPG1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for IMPG1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia IMPG1 34 33
  • 99.08 (n)
(Canis familiaris)
Mammalia IMPG1 34 33
  • 85.7 (n)
(Bos Taurus)
Mammalia IMPG1 34 33
  • 79.21 (n)
-- 34
  • 70 (a)
(Mus musculus)
Mammalia Impg1 16 34 33
  • 77.74 (n)
(Rattus norvegicus)
Mammalia Impg1 33
  • 75.86 (n)
(Ornithorhynchus anatinus)
Mammalia IMPG1 34
  • 50 (a)
(Monodelphis domestica)
Mammalia IMPG1 34
  • 50 (a)
(Gallus gallus)
Aves IMPG1 34 33
  • 64.16 (n)
(Anolis carolinensis)
Reptilia IMPG1 34
  • 67 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia impg1 33
  • 61.45 (n)
Str.13905 33
(Danio rerio)
Actinopterygii impg1b 34
  • 27 (a)
impg1a 34
  • 21 (a)
Species where no ortholog for IMPG1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for IMPG1 Gene

Gene Tree for IMPG1 (if available)
Gene Tree for IMPG1 (if available)
Evolutionary constrained regions (ECRs) for IMPG1: view image

Paralogs for IMPG1 Gene

Paralogs for IMPG1 Gene

genes like me logo Genes that share paralogs with IMPG1: view

Variants for IMPG1 Gene

Sequence variations from dbSNP and Humsavar for IMPG1 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs144437882 likely-pathogenic, Macular dystrophy 76,003,929(-) G/A/T coding_sequence_variant, missense_variant
rs367576664 pathogenic, Macular dystrophy, vitelliform, 4 75,950,867(-) G/A coding_sequence_variant, stop_gained
rs713993045 pathogenic, Macular dystrophy, vitelliform, 4, Macular dystrophy, vitelliform, 4 (VMD4) [MIM:616151] 76,018,812(-) A/C coding_sequence_variant, missense_variant
rs713993046 pathogenic, Macular dystrophy, vitelliform, 4 76,018,717(-) C/A splice_donor_variant
rs713993047 pathogenic, Macular dystrophy, vitelliform, 4, Macular dystrophy, vitelliform, 4 (VMD4) [MIM:616151] 76,034,628(-) A/G coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for IMPG1 Gene

Variant ID Type Subtype PubMed ID
esv1003005 CNV deletion 20482838
esv1097945 CNV deletion 17803354
esv1561860 CNV deletion 17803354
esv1934970 CNV deletion 18987734
esv2658811 CNV deletion 23128226
esv2672500 CNV deletion 23128226
esv2674046 CNV deletion 23128226
esv2732315 CNV deletion 23290073
esv2732316 CNV deletion 23290073
esv2732318 CNV deletion 23290073
esv3087005 CNV deletion 24192839
esv3305771 CNV mobile element insertion 20981092
esv3324707 CNV insertion 20981092
esv3422591 CNV insertion 20981092
esv3435436 CNV insertion 20981092
esv3540005 CNV deletion 23714750
esv3576180 CNV gain 25503493
esv3609583 CNV loss 21293372
esv3609584 CNV loss 21293372
esv3609585 CNV loss 21293372
esv3609586 CNV gain 21293372
esv3609587 CNV loss 21293372
esv3609590 CNV loss 21293372
esv5072 CNV loss 18987735
nsv1032961 CNV gain 25217958
nsv1124093 CNV deletion 24896259
nsv518093 CNV loss 19592680
nsv5355 CNV insertion 18451855
nsv956957 CNV deletion 24416366

Variation tolerance for IMPG1 Gene

Residual Variation Intolerance Score: 84% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.64; 86.34% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IMPG1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IMPG1 Gene

Disorders for IMPG1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for IMPG1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search IMPG1 in MalaCards View complete list of genes associated with diseases


  • Macular dystrophy, vitelliform, 4 (VMD4) [MIM:616151]: A form of macular dystrophy, a retinal disease in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea. Vitelliform macular dystrophies are characterized by yellow, lipofuscin-containing deposits, usually localized at the center of the macula. VMD4 features include late-onset moderate visual impairment, small satellite drusen-like lesions in the foveal area, and preservation of retinal pigment epithelium reflectivity. {ECO:0000269 PubMed:23993198}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for IMPG1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with IMPG1: view

No data available for Genatlas for IMPG1 Gene

Publications for IMPG1 Gene

  1. The benign concentric annular macular dystrophy locus maps to 6p12.3-q16. (PMID: 14691150) van Lith-Verhoeven JJ … Cremers FP (Investigative ophthalmology & visual science 2004) 3 4 22 58
  2. Expression and characterization of the IPM 150 gene (IMPG1) product, a novel human photoreceptor cell-associated chondroitin-sulfate proteoglycan. (PMID: 10601738) Kuehn MH … Hageman GS (Matrix biology : journal of the International Society for Matrix Biology 1999) 3 4 22 58
  3. Mutations in IMPG1 cause vitelliform macular dystrophies. (PMID: 23993198) Manes G … Hamel CP (American journal of human genetics 2013) 3 4 58
  4. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PMID: 20201926) Joslyn G … White RL (Alcoholism, clinical and experimental research 2010) 3 44 58
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58

Products for IMPG1 Gene

Sources for IMPG1 Gene

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