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Protein

Interphotoreceptor matrix proteoglycan 1

Gene

IMPG1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

May interact with hyaluronan which may serve to form a basic macromolecular scaffold comprising the insoluble interphotoreceptor matrix.1 Publication

GO - Molecular functioni

  • extracellular matrix structural constituent Source: ProtInc

GO - Biological processi

Keywordsi

Molecular functionReceptor
LigandSialic acid

Names & Taxonomyi

Protein namesi
Recommended name:
Interphotoreceptor matrix proteoglycan 1
Alternative name(s):
Interphotoreceptor matrix proteoglycan of 150 kDa
Short name:
IPM-150
Sialoprotein associated with cones and rods
Gene namesi
Name:IMPG1Imported
Synonyms:IPM150Imported, SPACR1 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000112706.11
HGNCiHGNC:6055 IMPG1
MIMi602870 gene
neXtProtiNX_Q17R60

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Macular dystrophy, vitelliform, 4 (VMD4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of macular dystrophy, a retinal disease in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea. Vitelliform macular dystrophies are characterized by yellow, lipofuscin-containing deposits, usually localized at the center of the macula. VMD4 features include late-onset moderate visual impairment, small satellite drusen-like lesions in the foveal area, and preservation of retinal pigment epithelium reflectivity.
See also OMIM:616151
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_072668154L → P in VMD4. 1 PublicationCorresponds to variant dbSNP:rs713993047EnsemblClinVar.1
Natural variantiVAR_072669238L → R in VMD4. 1 PublicationCorresponds to variant dbSNP:rs713993045EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi3617
MalaCardsiIMPG1
MIMi616151 phenotype
OpenTargetsiENSG00000112706
Orphaneti99000 Adult-onset foveomacular vitelliform dystrophy
PharmGKBiPA29865

Polymorphism and mutation databases

BioMutaiIMPG1
DMDMi115502232

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 20Sequence analysisAdd BLAST20
ChainiPRO_000025223821 – 797Interphotoreceptor matrix proteoglycan 1Sequence analysisAdd BLAST777

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi42N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi143N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi191N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi215N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi403O-linked (GalNAc...) threonineSequence analysis1
Glycosylationi421O-linked (GalNAc...) threonineSequence analysis1
Glycosylationi432O-linked (GalNAc...) threonineSequence analysis1
Glycosylationi442O-linked (GalNAc...) threonineSequence analysis1
Glycosylationi592N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi616N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi630N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi648N-linked (GlcNAc...) asparagineSequence analysis1

Post-translational modificationi

The N-terminus is blocked.1 Publication
Highly glycosylated (N- and O-linked carbohydrates and sialic acid).1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ17R60
PeptideAtlasiQ17R60
PRIDEiQ17R60
ProteomicsDBi61136

PTM databases

iPTMnetiQ17R60
PhosphoSitePlusiQ17R60

Expressioni

Tissue specificityi

Abundantly expressed in retina where it is specifically expressed by cone and rod photoreceptor cells. Localizes to cone and rod photoreceptor cells surrounding the interphotoreceptor matrix of the retina.3 Publications

Gene expression databases

BgeeiENSG00000112706 Expressed in 87 organ(s), highest expression level in caudate nucleus
CleanExiHS_IMPG1
ExpressionAtlasiQ17R60 baseline and differential
GenevisibleiQ17R60 HS

Organism-specific databases

HPAiHPA027142
HPA030332
HPA030333

Interactioni

Protein-protein interaction databases

BioGridi109830, 2 interactors
STRINGi9606.ENSP00000358966

Structurei

3D structure databases

ProteinModelPortaliQ17R60
SMRiQ17R60
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini232 – 354SEA 1PROSITE-ProRule annotationAdd BLAST123
Domaini571 – 684SEA 2PROSITE-ProRule annotationAdd BLAST114

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

eggNOGiENOG410IH0G Eukaryota
ENOG410Y9FF LUCA
GeneTreeiENSGT00530000063503
HOGENOMiHOG000113063
HOVERGENiHBG081793
InParanoidiQ17R60
KOiK19016
OMAiEIHVLGF
OrthoDBiEOG091G094N
PhylomeDBiQ17R60
TreeFamiTF331340

Family and domain databases

Gene3Di3.30.70.960, 2 hits
InterProiView protein in InterPro
IPR000742 EGF-like_dom
IPR039861 IMPG
IPR000082 SEA_dom
IPR036364 SEA_dom_sf
PANTHERiPTHR12199 PTHR12199, 1 hit
PfamiView protein in Pfam
PF01390 SEA, 2 hits
SMARTiView protein in SMART
SM00200 SEA, 2 hits
SUPFAMiSSF82671 SSF82671, 2 hits
PROSITEiView protein in PROSITE
PS50024 SEA, 2 hits

Sequences (2+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q17R60-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MYLETRRAIF VFWIFLQVQG TKDISINIYH SETKDIDNPP RNETTESTEK
60 70 80 90 100
MYKMSTMRRI FDLAKHRTKR SAFFPTGVKV CPQESMKQIL DSLQAYYRLR
110 120 130 140 150
VCQEAVWEAY RIFLDRIPDT GEYQDWVSIC QQETFCLFDI GKNFSNSQEH
160 170 180 190 200
LDLLQQRIKQ RSFPDRKDEI SAEKTLGEPG ETIVISTDVA NVSLGPFPLT
210 220 230 240 250
PDDTLLNEIL DNTLNDTKMP TTERETEFAV LEEQRVELSV SLVNQKFKAE
260 270 280 290 300
LADSQSPYYQ ELAGKSQLQM QKIFKKLPGF KKIHVLGFRP KKEKDGSSST
310 320 330 340 350
EMQLTAIFKR HSAEAKSPAS DLLSFDSNKI ESEEVYHGTM EEDKQPEIYL
360 370 380 390 400
TATDLKRLIS KALEEEQSLD VGTIQFTDEI AGSLPAFGPD TQSELPTSFA
410 420 430 440 450
VITEDATLSP ELPPVEPQLE TVDGAEHGLP DTSWSPPAMA STSLSEAPPF
460 470 480 490 500
FMASSIFSLT DQGTTDTMAT DQTMLVPGLT IPTSDYSAIS QLALGISHPP
510 520 530 540 550
ASSDDSRSSA GGEDMVRHLD EMDLSDTPAP SEVPELSEYV SVPDHFLEDT
560 570 580 590 600
TPVSALQYIT TSSMTIAPKG RELVVFFSLR VANMAFSNDL FNKSSLEYRA
610 620 630 640 650
LEQQFTQLLV PYLRSNLTGF KQLEILNFRN GSVIVNSKMK FAKSVPYNLT
660 670 680 690 700
KAVHGVLEDF RSAAAQQLHL EIDSYSLNIE PADQADPCKF LACGEFAQCV
710 720 730 740 750
KNERTEEAEC RCKPGYDSQG SLDGLEPGLC GPGTKECEVL QGKGAPCRLP
760 770 780 790
DHSENQAYKT SVKKFQNQQN NKVISKRNSE LLTVEYEEFN HQDWEGN
Length:797
Mass (Da):89,387
Last modified:October 3, 2006 - v2
Checksum:iD017ED090C78D521
GO
Isoform 2 (identifier: Q17R60-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     23-100: Missing.
     188-225: DVANVSLGPF...DTKMPTTERE → EKNKGKTKPF...LLSSIIYTYY
     226-797: Missing.

Note: No experimental confirmation available.
Show »
Length:147
Mass (Da):17,389
Checksum:i2E719607077AC85C
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WYL3A0A087WYL3_HUMAN
Interphotoreceptor matrix proteogly...
IMPG1
719Annotation score:
Q5JSC4Q5JSC4_HUMAN
Interphotoreceptor matrix proteogly...
IMPG1
158Annotation score:
A0A0R4J2E9A0A0R4J2E9_HUMAN
Interphotoreceptor matrix proteogly...
IMPG1
140Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_072668154L → P in VMD4. 1 PublicationCorresponds to variant dbSNP:rs713993047EnsemblClinVar.1
Natural variantiVAR_072669238L → R in VMD4. 1 PublicationCorresponds to variant dbSNP:rs713993045EnsemblClinVar.1
Natural variantiVAR_051069463G → V. Corresponds to variant dbSNP:rs9443201Ensembl.1
Natural variantiVAR_027793518H → D1 PublicationCorresponds to variant dbSNP:rs3734311Ensembl.1
Natural variantiVAR_051070569K → R. Corresponds to variant dbSNP:rs3734312Ensembl.1
Natural variantiVAR_072670579L → P Found in a family with benign concentric annular macular dystrophy; unknown pathological significance. 1 Publication1
Natural variantiVAR_027794704R → W1 PublicationCorresponds to variant dbSNP:rs10943299Ensembl.1
Natural variantiVAR_051071711R → H. Corresponds to variant dbSNP:rs3734313Ensembl.1
Natural variantiVAR_051072761S → N. Corresponds to variant dbSNP:rs3778005Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_05598123 – 100Missing in isoform 2. 1 PublicationAdd BLAST78
Alternative sequenceiVSP_055982188 – 225DVANV…TTERE → EKNKGKTKPFNILQFGNNHH EHLLPIFCLLSSIIYTYY in isoform 2. 1 PublicationAdd BLAST38
Alternative sequenceiVSP_055983226 – 797Missing in isoform 2. 1 PublicationAdd BLAST572

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF017776
, AF017760, AF017761, AF017762, AF017763, AF017764, AF017765, AF017766, AF017767, AF017768, AF017769, AF017770, AF017771, AF017772, AF017773, AF017774, AF017775 Genomic DNA Translation: AAC68835.1
AF047492 mRNA Translation: AAC03789.2
CR749572 mRNA Translation: CAH18367.1
AL356962 Genomic DNA No translation available.
AL392166 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW48726.1
BC117450 mRNA Translation: AAI17451.1
BC117452 mRNA Translation: AAI17453.1
CCDSiCCDS4985.1 [Q17R60-1]
RefSeqiNP_001269297.1, NM_001282368.1
NP_001554.2, NM_001563.3 [Q17R60-1]
UniGeneiHs.590893

Genome annotation databases

EnsembliENST00000369950; ENSP00000358966; ENSG00000112706 [Q17R60-1]
GeneIDi3617
KEGGihsa:3617
UCSCiuc003pik.3 human [Q17R60-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF017776
, AF017760, AF017761, AF017762, AF017763, AF017764, AF017765, AF017766, AF017767, AF017768, AF017769, AF017770, AF017771, AF017772, AF017773, AF017774, AF017775 Genomic DNA Translation: AAC68835.1
AF047492 mRNA Translation: AAC03789.2
CR749572 mRNA Translation: CAH18367.1
AL356962 Genomic DNA No translation available.
AL392166 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW48726.1
BC117450 mRNA Translation: AAI17451.1
BC117452 mRNA Translation: AAI17453.1
CCDSiCCDS4985.1 [Q17R60-1]
RefSeqiNP_001269297.1, NM_001282368.1
NP_001554.2, NM_001563.3 [Q17R60-1]
UniGeneiHs.590893

3D structure databases

ProteinModelPortaliQ17R60
SMRiQ17R60
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109830, 2 interactors
STRINGi9606.ENSP00000358966

PTM databases

iPTMnetiQ17R60
PhosphoSitePlusiQ17R60

Polymorphism and mutation databases

BioMutaiIMPG1
DMDMi115502232

Proteomic databases

PaxDbiQ17R60
PeptideAtlasiQ17R60
PRIDEiQ17R60
ProteomicsDBi61136

Protocols and materials databases

DNASUi3617
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000369950; ENSP00000358966; ENSG00000112706 [Q17R60-1]
GeneIDi3617
KEGGihsa:3617
UCSCiuc003pik.3 human [Q17R60-1]

Organism-specific databases

CTDi3617
DisGeNETi3617
EuPathDBiHostDB:ENSG00000112706.11
GeneCardsiIMPG1
HGNCiHGNC:6055 IMPG1
HPAiHPA027142
HPA030332
HPA030333
MalaCardsiIMPG1
MIMi602870 gene
616151 phenotype
neXtProtiNX_Q17R60
OpenTargetsiENSG00000112706
Orphaneti99000 Adult-onset foveomacular vitelliform dystrophy
PharmGKBiPA29865
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IH0G Eukaryota
ENOG410Y9FF LUCA
GeneTreeiENSGT00530000063503
HOGENOMiHOG000113063
HOVERGENiHBG081793
InParanoidiQ17R60
KOiK19016
OMAiEIHVLGF
OrthoDBiEOG091G094N
PhylomeDBiQ17R60
TreeFamiTF331340

Miscellaneous databases

ChiTaRSiIMPG1 human
GeneWikiiIMPG1
GenomeRNAii3617
PROiPR:Q17R60
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000112706 Expressed in 87 organ(s), highest expression level in caudate nucleus
CleanExiHS_IMPG1
ExpressionAtlasiQ17R60 baseline and differential
GenevisibleiQ17R60 HS

Family and domain databases

Gene3Di3.30.70.960, 2 hits
InterProiView protein in InterPro
IPR000742 EGF-like_dom
IPR039861 IMPG
IPR000082 SEA_dom
IPR036364 SEA_dom_sf
PANTHERiPTHR12199 PTHR12199, 1 hit
PfamiView protein in Pfam
PF01390 SEA, 2 hits
SMARTiView protein in SMART
SM00200 SEA, 2 hits
SUPFAMiSSF82671 SSF82671, 2 hits
PROSITEiView protein in PROSITE
PS50024 SEA, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiIMPG1_HUMAN
AccessioniPrimary (citable) accession number: Q17R60
Secondary accession number(s): A6NNZ6
, O43686, O95094, Q68D53, Q9BWZ1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: October 3, 2006
Last modified: November 7, 2018
This is version 98 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
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