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Protein

Interphotoreceptor matrix proteoglycan 1

Gene

IMPG1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

  • visual perception Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Receptor

Keywords - Ligandi

Sialic 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

HGNCiHGNC:6055. IMPG1.

Subcellular locationi

GO - Cellular componenti

  • proteinaceous extracellular matrix Source: ProtInc
Complete GO annotation...

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 rs713993047dbSNPEnsembl.1
Natural variantiVAR_072669238L → R in VMD4. 1 PublicationCorresponds to variant rs713993045dbSNPEnsembl.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...)Sequence analysis1
Glycosylationi143N-linked (GlcNAc...)Sequence analysis1
Glycosylationi191N-linked (GlcNAc...)Sequence analysis1
Glycosylationi215N-linked (GlcNAc...)Sequence analysis1
Glycosylationi403O-linked (GalNAc...)Sequence analysis1
Glycosylationi421O-linked (GalNAc...)Sequence analysis1
Glycosylationi432O-linked (GalNAc...)Sequence analysis1
Glycosylationi442O-linked (GalNAc...)Sequence analysis1
Glycosylationi592N-linked (GlcNAc...)Sequence analysis1
Glycosylationi616N-linked (GlcNAc...)Sequence analysis1
Glycosylationi630N-linked (GlcNAc...)Sequence analysis1
Glycosylationi648N-linked (GlcNAc...)Sequence 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.

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.
CleanExiHS_IMPG1.
ExpressionAtlasiQ17R60. baseline and differential.
GenevisibleiQ17R60. HS.

Interactioni

Protein-protein interaction databases

BioGridi109830. 1 interactor.
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

Sequence similaritiesi

Contains 2 SEA domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

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

Family and domain databases

Gene3Di3.30.70.960. 2 hits.
InterProiIPR000742. EGF-like_dom.
IPR000082. SEA_dom.
[Graphical view]
PfamiPF01390. SEA. 2 hits.
[Graphical view]
SMARTiSM00200. SEA. 2 hits.
[Graphical view]
SUPFAMiSSF82671. SSF82671. 2 hits.
PROSITEiPS50024. SEA. 2 hits.
[Graphical view]

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

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_072668154L → P in VMD4. 1 PublicationCorresponds to variant rs713993047dbSNPEnsembl.1
Natural variantiVAR_072669238L → R in VMD4. 1 PublicationCorresponds to variant rs713993045dbSNPEnsembl.1
Natural variantiVAR_051069463G → V.Corresponds to variant rs9443201dbSNPEnsembl.1
Natural variantiVAR_027793518H → D.1 PublicationCorresponds to variant rs3734311dbSNPEnsembl.1
Natural variantiVAR_051070569K → R.Corresponds to variant rs3734312dbSNPEnsembl.1
Natural variantiVAR_072670579L → P Found in a family with benign concentric annular macular dystrophy; unknown pathological significance. 1 Publication1
Natural variantiVAR_027794704R → W.1 PublicationCorresponds to variant rs10943299dbSNPEnsembl.1
Natural variantiVAR_051071711R → H.Corresponds to variant rs3734313dbSNPEnsembl.1
Natural variantiVAR_051072761S → N.Corresponds to variant rs3778005dbSNPEnsembl.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, AL392166 Genomic DNA. Translation: CAC36327.2.
AL392166, AL356962 Genomic DNA. Translation: CAI41298.1.
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

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, AL392166 Genomic DNA. Translation: CAC36327.2.
AL392166, AL356962 Genomic DNA. Translation: CAI41298.1.
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. 1 interactor.
STRINGi9606.ENSP00000358966.

PTM databases

iPTMnetiQ17R60.
PhosphoSitePlusiQ17R60.

Polymorphism and mutation databases

BioMutaiIMPG1.
DMDMi115502232.

Proteomic databases

PaxDbiQ17R60.
PeptideAtlasiQ17R60.
PRIDEiQ17R60.

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.
GeneCardsiIMPG1.
HGNCiHGNC:6055. IMPG1.
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.
OMAiGKSQLQM.
OrthoDBiEOG091G094N.
PhylomeDBiQ17R60.
TreeFamiTF331340.

Miscellaneous databases

GeneWikiiIMPG1.
GenomeRNAii3617.
PROiQ17R60.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000112706.
CleanExiHS_IMPG1.
ExpressionAtlasiQ17R60. baseline and differential.
GenevisibleiQ17R60. HS.

Family and domain databases

Gene3Di3.30.70.960. 2 hits.
InterProiIPR000742. EGF-like_dom.
IPR000082. SEA_dom.
[Graphical view]
PfamiPF01390. SEA. 2 hits.
[Graphical view]
SMARTiSM00200. SEA. 2 hits.
[Graphical view]
SUPFAMiSSF82671. SSF82671. 2 hits.
PROSITEiPS50024. SEA. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiIMPG1_HUMAN
AccessioniPrimary (citable) accession number: Q17R60
Secondary accession number(s): A6NNZ6
, O43686, O95094, Q68D53, Q9BWZ1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: October 3, 2006
Last modified: November 2, 2016
This is version 86 of the entry and version 2 of the sequence. [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 chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.