IMPG1
Interphotoreceptor matrix proteoglycan 1
Also known as: GP147, IMPG1_HUMAN, IPM150, SPACR
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q17R60
- Gene
- IMPG1
- Ensembl
- ENSG00000112706
- Chromosome
- 6
- Canonical length
- 797 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted secreted proteins
- Subcellular location
- Plasma membrane,Microtubules,Mid piece,Principal piece,End piece
- Secretome location
- Secreted in other tissues
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
797 residues, UniProt reviewed canonical sequence.
>Q17R60|IMPG1
1 MYLETRRAIF VFWIFLQVQG TKDISINIYH SETKDIDNPP RNETTESTEK MYKMSTMRRI
61 FDLAKHRTKR SAFFPTGVKV CPQESMKQIL DSLQAYYRLR VCQEAVWEAY RIFLDRIPDT
121 GEYQDWVSIC QQETFCLFDI GKNFSNSQEH LDLLQQRIKQ RSFPDRKDEI SAEKTLGEPG
181 ETIVISTDVA NVSLGPFPLT PDDTLLNEIL DNTLNDTKMP TTERETEFAV LEEQRVELSV
241 SLVNQKFKAE LADSQSPYYQ ELAGKSQLQM QKIFKKLPGF KKIHVLGFRP KKEKDGSSST
301 EMQLTAIFKR HSAEAKSPAS DLLSFDSNKI ESEEVYHGTM EEDKQPEIYL TATDLKRLIS
361 KALEEEQSLD VGTIQFTDEI AGSLPAFGPD TQSELPTSFA VITEDATLSP ELPPVEPQLE
421 TVDGAEHGLP DTSWSPPAMA STSLSEAPPF FMASSIFSLT DQGTTDTMAT DQTMLVPGLT
481 IPTSDYSAIS QLALGISHPP ASSDDSRSSA GGEDMVRHLD EMDLSDTPAP SEVPELSEYV
541 SVPDHFLEDT TPVSALQYIT TSSMTIAPKG RELVVFFSLR VANMAFSNDL FNKSSLEYRA
601 LEQQFTQLLV PYLRSNLTGF KQLEILNFRN GSVIVNSKMK FAKSVPYNLT KAVHGVLEDF
661 RSAAAQQLHL EIDSYSLNIE PADQADPCKF LACGEFAQCV KNERTEEAEC RCKPGYDSQG
721 SLDGLEPGLC GPGTKECEVL QGKGAPCRLP DHSENQAYKT SVKKFQNQQN NKVISKRNSE
781 LLTVEYEEFN HQDWEGNLocalizationUniProt · AlphaFold · HPA
Whether an antibody against IMPG1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Secreted
- Secreted
- Yes
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.53
- Highest tissue expression
- 621 nTPM
Expression across tissuesHPA
Tissue
- retina: 621 nTPM
- basal ganglia: 6.6 nTPM
- pancreas: 1.7 nTPM
- cerebral cortex: 1.3 nTPM
- skin: 1.3 nTPM
- duodenum: 0.9 nTPM
Single-cell type
- rod photoreceptor cells: 1,299 nCPM
- cone photoreceptor cells: 1,054 nCPM
- retinal ganglion cells: 50 nCPM
- müller glia: 24 nCPM
- retinal bipolar cells: 22 nCPM
- epididymal clear cells: 18 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- basal ganglia: 6.8 nTPM
- white matter: 5 nTPM
- cerebral cortex: 4.7 nTPM
- cerebellum: 3.9 nTPM
- choroid plexus: 3.6 nTPM
- medulla oblongata: 3.2 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about IMPG1.
Disease | AllUniProt
Conditions IMPG1 is implicated in, by any mechanism.
- Macular dystrophy, vitelliform, 4 (VMD4) MIM:616151
- Retinitis pigmentosa 91 (RP91) MIM:153870
Disease | GeneticClinVar
69 pathogenic / likely-pathogenic of 791 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Vitelliform macular dystrophy 4
- Retinal dystrophy
- IMPG1-related disorder
- Retinitis pigmentosa
- Benign concentric annular macular dystrophy
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.35
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.94
- DepMap mean gene effect
- 0.1
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
- chondroitin sulfate binding
- extracellular matrix structural constituent
- heparin binding
- hyaluronic acid binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads IMPG1 as an antibody target. Whether an autoantibody or antibody against IMPG1 could matter depends on whether native IMPG1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
IMPG1 is annotated as secreted, so native IMPG1 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.
Annotation status
The present source text does not explicitly label IMPG1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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