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Q17R60

- IMPG1_HUMAN

UniProt

Q17R60 - IMPG1_HUMAN

Protein

Interphotoreceptor matrix proteoglycan 1

Gene

IMPG1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 67 (01 Oct 2014)
      Sequence version 2 (03 Oct 2006)
      Previous versions | rss
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    Functioni

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

    GO - Molecular functioni

    1. extracellular matrix structural constituent Source: ProtInc

    GO - Biological processi

    1. visual perception Source: ProtInc

    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
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:6055. IMPG1.

    Subcellular locationi

    Secreted Curated

    GO - Cellular componenti

    1. proteinaceous extracellular matrix Source: ProtInc

    Keywords - Cellular componenti

    Secreted

    Pathology & Biotechi

    Organism-specific databases

    Orphaneti99000. Adult-onset foveomacular vitelliform dystrophy.
    PharmGKBiPA29865.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2020Sequence AnalysisAdd
    BLAST
    Chaini21 – 797777Interphotoreceptor matrix proteoglycan 1Sequence AnalysisPRO_0000252238Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi42 – 421N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi143 – 1431N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi191 – 1911N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi215 – 2151N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi403 – 4031O-linked (GalNAc...)Sequence Analysis
    Glycosylationi421 – 4211O-linked (GalNAc...)Sequence Analysis
    Glycosylationi432 – 4321O-linked (GalNAc...)Sequence Analysis
    Glycosylationi442 – 4421O-linked (GalNAc...)Sequence Analysis
    Glycosylationi592 – 5921N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi616 – 6161N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi630 – 6301N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi648 – 6481N-linked (GlcNAc...)Sequence Analysis

    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.
    PRIDEiQ17R60.

    PTM databases

    PhosphoSiteiQ17R60.

    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

    ArrayExpressiQ17R60.
    BgeeiQ17R60.
    CleanExiHS_IMPG1.
    GenevestigatoriQ17R60.

    Interactioni

    Protein-protein interaction databases

    BioGridi109830. 1 interaction.
    STRINGi9606.ENSP00000358966.

    Structurei

    3D structure databases

    ProteinModelPortaliQ17R60.
    SMRiQ17R60. Positions 576-631.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini232 – 354123SEA 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini571 – 684114SEA 2PROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 2 SEA domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, Signal

    Phylogenomic databases

    eggNOGiNOG73774.
    HOGENOMiHOG000113063.
    HOVERGENiHBG081793.
    InParanoidiQ17R60.
    OMAiQMQKVFK.
    OrthoDBiEOG7TXKFR.
    PhylomeDBiQ17R60.
    TreeFamiTF331340.

    Family and domain databases

    Gene3Di3.30.70.960. 2 hits.
    InterProiIPR000742. EG-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. Align

    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

    MYLETRRAIF VFWIFLQVQG TKDISINIYH SETKDIDNPP RNETTESTEK    50
    MYKMSTMRRI FDLAKHRTKR SAFFPTGVKV CPQESMKQIL DSLQAYYRLR 100
    VCQEAVWEAY RIFLDRIPDT GEYQDWVSIC QQETFCLFDI GKNFSNSQEH 150
    LDLLQQRIKQ RSFPDRKDEI SAEKTLGEPG ETIVISTDVA NVSLGPFPLT 200
    PDDTLLNEIL DNTLNDTKMP TTERETEFAV LEEQRVELSV SLVNQKFKAE 250
    LADSQSPYYQ ELAGKSQLQM QKIFKKLPGF KKIHVLGFRP KKEKDGSSST 300
    EMQLTAIFKR HSAEAKSPAS DLLSFDSNKI ESEEVYHGTM EEDKQPEIYL 350
    TATDLKRLIS KALEEEQSLD VGTIQFTDEI AGSLPAFGPD TQSELPTSFA 400
    VITEDATLSP ELPPVEPQLE TVDGAEHGLP DTSWSPPAMA STSLSEAPPF 450
    FMASSIFSLT DQGTTDTMAT DQTMLVPGLT IPTSDYSAIS QLALGISHPP 500
    ASSDDSRSSA GGEDMVRHLD EMDLSDTPAP SEVPELSEYV SVPDHFLEDT 550
    TPVSALQYIT TSSMTIAPKG RELVVFFSLR VANMAFSNDL FNKSSLEYRA 600
    LEQQFTQLLV PYLRSNLTGF KQLEILNFRN GSVIVNSKMK FAKSVPYNLT 650
    KAVHGVLEDF RSAAAQQLHL EIDSYSLNIE PADQADPCKF LACGEFAQCV 700
    KNERTEEAEC RCKPGYDSQG SLDGLEPGLC GPGTKECEVL QGKGAPCRLP 750
    DHSENQAYKT SVKKFQNQQN NKVISKRNSE LLTVEYEEFN HQDWEGN 797
    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)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti463 – 4631G → V.
    Corresponds to variant rs9443201 [ dbSNP | Ensembl ].
    VAR_051069
    Natural varianti518 – 5181H → D.1 Publication
    Corresponds to variant rs3734311 [ dbSNP | Ensembl ].
    VAR_027793
    Natural varianti569 – 5691K → R.
    Corresponds to variant rs3734312 [ dbSNP | Ensembl ].
    VAR_051070
    Natural varianti704 – 7041R → W.1 Publication
    Corresponds to variant rs10943299 [ dbSNP | Ensembl ].
    VAR_027794
    Natural varianti711 – 7111R → H.
    Corresponds to variant rs3734313 [ dbSNP | Ensembl ].
    VAR_051071
    Natural varianti761 – 7611S → N.
    Corresponds to variant rs3778005 [ dbSNP | Ensembl ].
    VAR_051072

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei23 – 10078Missing in isoform 2. 1 PublicationVSP_055981Add
    BLAST
    Alternative sequencei188 – 22538DVANV…TTERE → EKNKGKTKPFNILQFGNNHH EHLLPIFCLLSSIIYTYY in isoform 2. 1 PublicationVSP_055982Add
    BLAST
    Alternative sequencei226 – 797572Missing in isoform 2. 1 PublicationVSP_055983Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.
    RefSeqiNP_001269297.1. NM_001282368.1.
    NP_001554.2. NM_001563.3.
    UniGeneiHs.590893.

    Genome annotation databases

    EnsembliENST00000369950; ENSP00000358966; ENSG00000112706.
    ENST00000369963; ENSP00000358980; ENSG00000112706.
    GeneIDi3617.
    KEGGihsa:3617.
    UCSCiuc003pik.1. human.

    Polymorphism databases

    DMDMi115502232.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS4985.1.
    RefSeqi NP_001269297.1. NM_001282368.1.
    NP_001554.2. NM_001563.3.
    UniGenei Hs.590893.

    3D structure databases

    ProteinModelPortali Q17R60.
    SMRi Q17R60. Positions 576-631.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109830. 1 interaction.
    STRINGi 9606.ENSP00000358966.

    PTM databases

    PhosphoSitei Q17R60.

    Polymorphism databases

    DMDMi 115502232.

    Proteomic databases

    PaxDbi Q17R60.
    PRIDEi Q17R60.

    Protocols and materials databases

    DNASUi 3617.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000369950 ; ENSP00000358966 ; ENSG00000112706 .
    ENST00000369963 ; ENSP00000358980 ; ENSG00000112706 .
    GeneIDi 3617.
    KEGGi hsa:3617.
    UCSCi uc003pik.1. human.

    Organism-specific databases

    CTDi 3617.
    GeneCardsi GC06M076687.
    HGNCi HGNC:6055. IMPG1.
    MIMi 602870. gene.
    neXtProti NX_Q17R60.
    Orphaneti 99000. Adult-onset foveomacular vitelliform dystrophy.
    PharmGKBi PA29865.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG73774.
    HOGENOMi HOG000113063.
    HOVERGENi HBG081793.
    InParanoidi Q17R60.
    OMAi QMQKVFK.
    OrthoDBi EOG7TXKFR.
    PhylomeDBi Q17R60.
    TreeFami TF331340.

    Miscellaneous databases

    GeneWikii IMPG1.
    GenomeRNAii 3617.
    NextBioi 14149.
    PROi Q17R60.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q17R60.
    Bgeei Q17R60.
    CleanExi HS_IMPG1.
    Genevestigatori Q17R60.

    Family and domain databases

    Gene3Di 3.30.70.960. 2 hits.
    InterProi IPR000742. EG-like_dom.
    IPR000082. SEA_dom.
    [Graphical view ]
    Pfami PF01390. SEA. 2 hits.
    [Graphical view ]
    SMARTi SM00200. SEA. 2 hits.
    [Graphical view ]
    SUPFAMi SSF82671. SSF82671. 2 hits.
    PROSITEi PS50024. SEA. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Genomic organization and chromosomal localization of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene: a candidate for 6q-linked retinopathies."
      Felbor U., Gehrig A., Sauer C.G., Marquardt A., Koehler M., Schmid M., Weber B.H.F.
      Cytogenet. Cell Genet. 81:12-17(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    2. "Expression and characterization of the IPM 150 gene (IMPG1) product, a novel human photoreceptor cell-associated chondroitin-sulfate proteoglycan."
      Kuehn M.H., Hageman G.S.
      Matrix Biol. 18:509-518(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PROTEIN SEQUENCE OF 71-90, TISSUE SPECIFICITY.
      Tissue: RetinaImported.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Retina.
    4. "The DNA sequence and analysis of human chromosome 6."
      Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
      Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS ASP-518 AND TRP-704.
      Tissue: BrainImported.
    7. "SPACR, a novel interphotoreceptor matrix glycoprotein in human retina that interacts with hyaluronan."
      Acharya S., Rodriguez I.R., Moreira E.F., Midura R.J., Misono K., Todres E., Hollyfield J.G.
      J. Biol. Chem. 273:31599-31606(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 71-79; 101-111; 249-265 AND 622-629, FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, IDENTIFICATION BY MASS SPECTROMETRY.
    8. "Characterization of SPACR, a sialoprotein associated with cones and rods present in the interphotoreceptor matrix of the human retina: immunological and lectin binding analysis."
      Acharya S., Rayborn M.E., Hollyfield J.G.
      Glycobiology 8:997-1006(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, GLYCOSYLATION.

    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: October 1, 2014
    This is version 67 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

    External Data

    Dasty 3