IMPG1 (interphotoreceptor matrix proteoglycan 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3617
Gene name Gene Name - the full gene name approved by the HGNC.
Interphotoreceptor matrix proteoglycan 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IMPG1
Synonyms (NCBI Gene) Gene synonyms aliases
GP147, IPM150, RP91, SPACR, VMD4
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q14.1
Summary Summary of gene provided in NCBI Entrez 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 th
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
602870 6055 ENSG00000112706
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Macular dystrophy Isolated macular dystrophy rs373792616 N/A
retinal dystrophy Retinal dystrophy rs373792616, rs986664547 N/A
Vitelliform Macular Dystrophy Vitelliform macular dystrophy 4, Vitelliform macular dystrophy 2 rs367576664, rs713993046, rs713993045 N/A
Retinitis Pigmentosa retinitis pigmentosa rs1433546528 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Foveomacular Vitelliform Dystrophy adult-onset foveomacular vitelliform dystrophy N/A N/A GenCC
Show/Hide Text Mining Associations (8)
Associations from Text Mining Disease 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