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Aliases for IMPG1 Gene

Aliases for IMPG1 Gene

  • Interphotoreceptor Matrix Proteoglycan 1 2 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

  • SPACR

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. 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

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

Genomics for IMPG1 Gene

Regulatory Elements for IMPG1 Gene

Genomic Location for IMPG1 Gene

Chromosome:
6
Start:
75,921,114 bp from pter
End:
76,072,678 bp from pter
Size:
151,565 bases
Orientation:
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:
    Q17R60-IMPG1_HUMAN
    Recommended name:
    Interphotoreceptor matrix proteoglycan 1
    Protein Accession:
    Q17R60
    Secondary Accessions:
    • A6NNZ6
    • O43686
    • O95094
    • Q68D53
    • Q9BWZ1

    Protein attributes for IMPG1 Gene

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

    Alternative splice isoforms for IMPG1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IMPG1 Gene

Proteomics data for IMPG1 Gene at MOPED

Post-translational modifications for IMPG1 Gene

  • Highly glycosylated (N- and O-linked carbohydrates and sialic acid).
  • The N-terminus is blocked.
  • Glycosylation at Asn 42, Asn 143, Asn 191, Asn 215, Thr 403, Thr 421, Thr 432, Thr 442, Asn 592, Asn 616, Asn 630, and Asn 648
  • 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

Protein Domains for IMPG1 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q17R60

UniProtKB/Swiss-Prot:

IMPG1_HUMAN :
  • Contains 2 SEA domains.
Domain:
  • Contains 2 SEA domains.
genes like me logo Genes that share domains with IMPG1: view

No data available for Gene Families for IMPG1 Gene

Function for IMPG1 Gene

Molecular function for IMPG1 Gene

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

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

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

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for IMPG1 Gene COMPARTMENTS Subcellular localization image for IMPG1 gene
Compartment Confidence
extracellular 5
plasma membrane 3
nucleus 2
cytosol 1
mitochondrion 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for IMPG1 Gene

Pathways & Interactions for IMPG1 Gene

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

Interacting Proteins for IMPG1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000358966%0d%0a9606.ENSP00000296930%0d%0a
Selected Interacting proteins: ENSP00000358966 for IMPG1 Gene via STRING

Symbol External ID(s) Details
NPM1

Gene Ontology (GO) - Biological Process for IMPG1 Gene

None

No data available for SIGNOR curated interactions for IMPG1 Gene

Drugs & Compounds for IMPG1 Gene

No Compound Related Data Available

Transcripts for IMPG1 Gene

Unigene Clusters for IMPG1 Gene

Interphotoreceptor matrix proteoglycan 1:
Representative Sequences:

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

No ASD Table

Relevant External Links for IMPG1 Gene

GeneLoc Exon Structure for
IMPG1
ECgene alternative splicing isoforms for
IMPG1

Expression for IMPG1 Gene

mRNA expression in normal human tissues 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



SOURCE GeneReport for Unigene cluster for IMPG1 Gene Hs.590893

mRNA Expression by UniProt/SwissProt for IMPG1 Gene

Q17R60-IMPG1_HUMAN
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.
genes like me logo Genes that share expression patterns with IMPG1: view

Protein tissue co-expression partners for IMPG1 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for IMPG1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for IMPG1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IMPG1 35
  • 99.08 (n)
  • 97.87 (a)
IMPG1 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 36
  • 70 (a)
OneToMany
IMPG1 36
  • 69 (a)
OneToMany
IMPG1 35
  • 79.21 (n)
  • 70.03 (a)
dog
(Canis familiaris)
Mammalia IMPG1 35
  • 85.7 (n)
  • 77.85 (a)
IMPG1 36
  • 75 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Impg1 16
Impg1 35
  • 77.74 (n)
  • 67.05 (a)
Impg1 36
  • 65 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IMPG1 36
  • 50 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IMPG1 36
  • 50 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Impg1 35
  • 75.86 (n)
  • 65.65 (a)
chicken
(Gallus gallus)
Aves IMPG1 35
  • 64.16 (n)
  • 55.54 (a)
IMPG1 36
  • 42 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IMPG1 36
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia impg1 35
  • 61.45 (n)
  • 54.47 (a)
Str.13905 35
zebrafish
(Danio rerio)
Actinopterygii impg1a 36
  • 21 (a)
OneToMany
impg1b 36
  • 27 (a)
OneToMany
Species with no ortholog for IMPG1:
  • 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

ENSEMBL:
Gene Tree for IMPG1 (if available)
TreeFam:
Gene Tree for IMPG1 (if available)

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 Sequence Context AA Info Type
rs3734311 - 75,950,834(-) TCAGA(C/G)ACCTA reference, missense
rs10943299 - 75,931,086(+) AGTCC(A/G)TTCGT reference, missense
rs9443201 - 75,950,998(+) TGGTG(A/C)CTTGA reference, missense
rs3734312 - 75,950,680(-) CCCCA(A/G)GGGCC reference, missense
rs3734313 - 75,931,064(-) GTGTC(A/G)CTGCA reference, missense

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

Variant ID Type Subtype PubMed ID
esv1561860 CNV Deletion 17803354
esv270048 CNV Insertion 20981092
esv2674046 CNV Deletion 23128226
nsv5355 CNV Insertion 18451855
esv2658811 CNV Deletion 23128226
esv2672500 CNV Deletion 23128226
esv271179 CNV Insertion 20981092
nsv518093 CNV Loss 19592680
esv2732315 CNV Deletion 23290073
esv1934970 CNV Deletion 18987734
esv5072 CNV Deletion 18987735
esv2732316 CNV Deletion 23290073
esv1003005 CNV Deletion 20482838
esv1097945 CNV Deletion 17803354
esv2732318 CNV Deletion 23290073

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)

Relevant External Links for IMPG1 Gene

HapMap Linkage Disequilibrium report
IMPG1
Human Gene Mutation Database (HGMD)
IMPG1

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

Disorders for IMPG1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for IMPG1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
macular dystrophy, vitelliform, 4
  • vitelliform macular dystrophy type 4
macular dystrophy, vitelliform, 3
  • adult-onset vitelliform macular dystrophy
macular dystrophy, vitelliform, 5
  • vmd5
north carolina macular dystrophy
  • caped
benign concentric annular macular dystrophy
- elite association - COSMIC cancer census association via MalaCards
Search IMPG1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

IMPG1_HUMAN
  • 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.

Relevant External Links for IMPG1

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

No data available for Genatlas for IMPG1 Gene

Publications for IMPG1 Gene

  1. Expression and characterization of the IPM 150 gene (IMPG1) product, a novel human photoreceptor cell-associated chondroitin-sulfate proteoglycan. (PMID: 10601738) Kuehn M.H. … Hageman G.S. (Matrix Biol. 1999) 3 4 23 67
  2. Molecular genetic analysis of two functional candidate genes in the autosomal recessive retinitis pigmentosa, RP25, locus. (PMID: 16354621) Abd El-Aziz M.M. … Bhattacharya S.S. (Curr. Eye Res. 2005) 3 23
  3. The benign concentric annular macular dystrophy locus maps to 6p12.3-q16. (PMID: 14691150) van Lith-Verhoeven J.J. … Cremers F.P. (Invest. Ophthalmol. Vis. Sci. 2004) 3 23
  4. Frequency and Clinical Pattern of Vitelliform Macular Dystrophy Caused by Mutations of Interphotoreceptor Matrix IMPG1 and IMPG2 Genes. (PMID: 25085631) Meunier I. … Hamel C.P. (Ophthalmology 2014) 3
  5. Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. (PMID: 25231870) Perry J.R. … Ong K.K. (Nature 2014) 3

Products for IMPG1 Gene

Sources for IMPG1 Gene

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