IMPG1 (interphotoreceptor matrix proteoglycan 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 3617
Gene name Interphotoreceptor matrix proteoglycan 1
Gene symbol IMPG1
Synonyms (NCBI Gene)
GP147IPM150RP91SPACRVMD4
Chromosome 6
Chromosome location 6q14.1
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 th
SNPs SNP information provided by dbSNP.
8
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (8)
SNP ID Visualize variation Clinical significance Consequence
rs144437882 G>A,T Likely-pathogenic Coding sequence variant, missense variant
rs200651043 G>A,C Likely-pathogenic Coding sequence variant, stop gained, intron variant, missense variant
rs367576664 G>A Pathogenic Coding sequence variant, stop gained
rs373792616 C>T Likely-pathogenic Coding sequence variant, stop gained
rs713993045 A>C Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
31
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (31)
miRTarBase ID miRNA Experiments Reference
MIRT028838 hsa-miR-26b-5p Microarray 19088304
MIRT722394 hsa-miR-617 HITS-CLIP 19536157
MIRT722392 hsa-miR-5581-3p HITS-CLIP 19536157
MIRT722393 hsa-miR-670-3p HITS-CLIP 19536157
MIRT569378 hsa-miR-378j PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (16)
GO ID Ontology Definition Evidence Reference
GO:0001750 Component Photoreceptor outer segment IEA
GO:0001917 Component Photoreceptor inner segment IEA
GO:0005201 Function Extracellular matrix structural constituent TAS 9691169
GO:0005540 Function Hyaluronic acid binding IEA
GO:0005540 Function Hyaluronic acid binding ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
602870 6055 ENSG00000112706
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q17R60
Protein name Interphotoreceptor matrix proteoglycan 1 (Interphotoreceptor matrix proteoglycan of 150 kDa) (IPM-150) (Sialoprotein associated with cones and rods)
Protein function Chondroitin sulfate-, heparin- and hyaluronan-binding protein (By similarity). May serve to form a basic macromolecular scaffold comprising the insoluble interphotoreceptor matrix (PubMed:9813076). {ECO:0000250|UniProtKB:Q8JIR8, ECO:0000269|PubM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01390 SEA 234 → 324 SEA domain Family
PF01390 SEA 573 → 673 SEA domain Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the retina (at protein level) (PubMed:10601738, PubMed:29777959). In the retina, specifically expressed by cone and rod photoreceptor cells (PubMed:9813076). Localizes to cone and rod photoreceptor cells surrounding the in
Sequence 
MYLETRRAIFVFWIFLQVQGTKDISINIYHSETKDIDNPPRNETTESTEKMYKMSTMRRI
FDLAKHRTKRSAFFPTGVKVCPQESMKQILDSLQAYYRLRVCQEAVWEAYRIFLDRIPDT
GEYQDWVSICQQETFCLFDIGKNFSNSQEHLDLLQQRIKQRSFPDRKDEISAEKTLGEPG
ETIVISTDVANVSLGPFPLTPDDTLLNEILDNTLNDTKMPTTERETEFAVLEEQRVELSV
SLVNQKFKAELADSQSPYYQELAGKSQLQMQKIFKKLPGFKKIHVLGFRPKKEKDGSSST
EMQLTAIFKRHSAEAKSPASDLLSFDSNKIESEEVYHGTMEEDKQPEIYLTATDLKRLIS
KALEEEQSLDVGTIQFTDEIAGSLPAFGPDTQSELPTSFAVITEDATLSPELPPVEPQLE
TVDGAEHGLPDTSWSPPAMASTSLSEAPPFFMASSIFSLTDQGTTDTMATDQTMLVPGLT
IPTSDYSAISQLALGISHPPASSDDSRSSAGGEDMVRHLDEMDLSDTPAPSEVPELSEYV
SVPDHFLEDTTPVSALQYITTSSMTIAPKGRELVVFFSLRVANMAFSNDLFNKSSLEYRA
LEQQFTQLLVPYLRSNLTGFKQLEILNFRNGSVIVNSKMKFAKSVPYNLTKAVHGVLEDF
RSAAAQQLHLEIDSYSLNIEPADQADPCKFLACGEFAQCVKNERTEEAECRCKPGYDSQG
SLDGLEPGLCGPGTKECEVLQGKGAPCRLPDHSENQAYKTSVKKFQNQQNNKVISKRNSE
LLTVEYEEFNHQDWEGN
Sequence length 797
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
148
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (7)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Benign concentric annular macular dystrophy Likely pathogenic; Pathogenic rs770887047, rs775770292 RCV001637979
RCV005363271
IMPG1-related disorder Pathogenic rs367576664 RCV004755779
Isolated macular dystrophy Likely pathogenic; Pathogenic rs373792616 RCV001199479
Retinal dystrophy Pathogenic; Likely pathogenic rs2149482319, rs770887047, rs2481526979, rs373792616, rs986664547 RCV004815582
RCV003891108
RCV003891118
RCV004817781
RCV001074720
Show/Hide Unknown Diseases (13)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs3734312 RCV005914360
Familial cancer of breast Benign; Likely benign rs144453358 RCV005906402
Gastric cancer Conflicting classifications of pathogenicity rs184144177 RCV005909462
Lung cancer Benign; Likely benign rs144453358 RCV005906404
Show/Hide Text Mining Associations (8)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Chorioretinal atrophy progressive bifocal Associate 9719369
Hypertension Associate 19421330
Macular Degeneration Associate 23993198
Macular dystrophy retinal 1 North Carolina type Associate 9719369
Retinal Dystrophies Associate 9719369
Stargardt Disease Associate 9719369
Stargardt disease 3 Associate 9719369
Vitelliform Macular Dystrophy Associate 23993198, 35900727