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    IMPG1 interphotoreceptor matrix proteoglycan 1 [ Homo sapiens (human) ]

    Gene ID: 3617, updated on 5-Mar-2024

    Summary

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    Official Symbol
    IMPG1provided by HGNC
    Official Full Name
    interphotoreceptor matrix proteoglycan 1provided by HGNC
    Primary source
    HGNC:HGNC:6055
    See related
    Ensembl:ENSG00000112706 MIM:602870; AllianceGenome:HGNC:6055
    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
    RP91; VMD4; GP147; SPACR; IPM150
    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]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    6q14.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (75921114..76072662, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (77097995..77249656, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (76630831..76782379, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene myosin VI Neighboring gene small nucleolar RNA U13 Neighboring gene RNA, 5S ribosomal pseudogene 209 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:76644683-76645294 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:76646103-76646604 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:76646605-76647104 Neighboring gene NANOG hESC enhancer GRCh37_chr6:76696520-76697063 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:76702869-76703559 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:76820442-76820982 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:76820983-76821521 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:76829469-76830098 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:76830099-76830727 Neighboring gene RNA, U6 small nuclear 248, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr6:77011078-77011263 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:77088669-77089170 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:77132408-77132991 Neighboring gene NANOG hESC enhancer GRCh37_chr6:77135272-77135773 Neighboring gene RNA, U6 small nuclear 261, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: 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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    Related articles in PubMed

    1. Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa. Olivier G, et al. J Med Genet, 2021 Aug. PMID 32817297
    2. Mutations in IMPG1 cause vitelliform macular dystrophies. Manes G, et al. Am J Hum Genet, 2013 Sep 5. PMID 23993198, Free PMC Article
    3. The benign concentric annular macular dystrophy locus maps to 6p12.3-q16. van Lith-Verhoeven JJ, et al. Invest Ophthalmol Vis Sci, 2004 Jan. PMID 14691150
    4. Expression and characterization of the IPM 150 gene (IMPG1) product, a novel human photoreceptor cell-associated chondroitin-sulfate proteoglycan. Kuehn MH, et al. Matrix Biol, 1999 Oct. PMID 10601738
    5. SPACR, a novel interphotoreceptor matrix glycoprotein in human retina that interacts with hyaluronan. Acharya S, et al. J Biol Chem, 1998 Nov 20. PMID 9813076

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa.
      Title: Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa.
    2. Extracellular matrix component expression in human pluripotent stem cell-derived retinal organoids recapitulates retinogenesis in vivo and reveals an important role for IMPG1 and CD44 in the development of photoreceptors and interphotoreceptor matrix.
      Title: Extracellular matrix component expression in human pluripotent stem cell-derived retinal organoids recapitulates retinogenesis in vivo and reveals an important role for IMPG1 and CD44 in the development of photoreceptors and interphotoreceptor matrix.
    3. IMPG1 and IMPG2 are new causal genes of vitelliform dystrophy, involved in 8% of our families.
      Title: Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes.
    4. IMPG1 mutations cause both autosomal-dominant and -recessive forms of vitelliform macular dystrophies.
      Title: Mutations in IMPG1 cause vitelliform macular dystrophies.
    5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    6. 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.
    7. A Leu579Pro mutation in the IMPG1 gene may play a causal role in benign concentric annular macular dystrophy (BCAMD).
      Title: The benign concentric annular macular dystrophy locus maps to 6p12.3-q16.
    8. Our results indicate that neither EEF1A1 nor IMPG1 could be responsible for RP25 in the studied families due to absence of any pathogenic variants.
      Title: Molecular genetic analysis of two functional candidate genes in the autosomal recessive retinitis pigmentosa, RP25, locus.
    9. The gene product of IMPG1 (designated IPM 150) is a member of a group of neuronal proteoglycans and/ or glycoproteins suspected to be essential in retinal adhesion and photoreceptor cell survival.
      Title: Expression and characterization of the IPM 150 gene (IMPG1) product, a novel human photoreceptor cell-associated chondroitin-sulfate proteoglycan.
    Submit: New GeneRIF Correction

    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

    Associated conditions

    Description Tests
    Benign concentric annular macular dystrophy
    MedGen: C5561925 OMIM: 153870 GeneReviews: Not available
    		Compare labs
    Vitelliform macular dystrophy 4
    MedGen: C4015342 OMIM: 616151 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables chondroitin sulfate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables extracellular matrix structural constituent TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables heparin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables hyaluronic acid binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in extracellular matrix organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in visual perception IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular matrix TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in interphotoreceptor matrix IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in photoreceptor inner segment IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in photoreceptor outer segment IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    interphotoreceptor matrix proteoglycan 1
    Names
    interphotoreceptor matrix proteoglycan of 150 kDa
    sialoprotein associated with cones and rods

    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

    1. NG_041812.1 RefSeqGene

      Range
      5017..156565
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001282368.2 → NP_001269297.1  interphotoreceptor matrix proteoglycan 1 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks one in-frame alternate exon compared to variant 1. The encoded isoform (2) is shorter compared to isoform 1.
      Source sequence(s)
      AF047492, AL356962, AL392166, BU728582, CA391789
      Consensus CDS
      CCDS75483.1
      UniProtKB/TrEMBL
      A0A087WYL3
      Related
      ENSP00000481913.1, ENST00000611179.4
      Conserved Domains (1) summary
      pfam01390
      Location:496 → 582
      SEA; SEA domain

    2. NM_001563.4 → NP_001554.2  interphotoreceptor matrix proteoglycan 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001554.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AF047492, AL356962, AL392166, BU728582
      Consensus CDS
      CCDS4985.1
      UniProtKB/Swiss-Prot
      A6NNZ6, O43686, O95094, Q17R60, Q68D53, Q9BWZ1
      Related
      ENSP00000358966.3, ENST00000369950.8
      Conserved Domains (1) summary
      pfam01390
      Location:574 → 660
      SEA; SEA domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      75921114..76072662 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      77097995..77249656 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q17R60.2 GenPept UniProtKB/Swiss-Prot:Q17R60

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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