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

Gene ID: 3617, updated on 5-Aug-2018

Summary

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; Vega:OTTHUMG00000015063
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
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

Genomic context

See IMPG1 in Genome Data Viewer
Location:
6q14.1
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (75921114..76072678, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (76631062..76782335, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 155, pseudogene Neighboring gene myosin VI Neighboring gene RNA, 5S ribosomal pseudogene 209 Neighboring gene RNA, U6 small nuclear 248, pseudogene Neighboring gene RNA, U6 small nuclear 261, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Macular dystrophy, vitelliform, 4
MedGen: C4015342 OMIM: 616151 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
extracellular matrix structural constituent TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
visual perception TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
extracellular matrix TAS
Traceable Author Statement
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    5001..156565
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001282368.1NP_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/Swiss-Prot
    Q17R60
    UniProtKB/TrEMBL
    A0A087WYL3
    Related
    ENSP00000481913.1, ENST00000611179.4
    Conserved Domains (1) summary
    pfam01390
    Location:496582
    SEA; SEA domain
  2. NM_001563.3NP_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
    Q17R60
    Related
    ENSP00000358966.3, OTTHUMP00000016767, ENST00000369950.7, OTTHUMT00000041288
    Conserved Domains (1) summary
    pfam01390
    Location:574660
    SEA; SEA domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    75921114..76072678 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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