位置:首页 > 蛋白库 > GPC4_HUMAN
GPC4_HUMAN
ID   GPC4_HUMAN              Reviewed;         556 AA.
AC   O75487; B2R6J7; B4E2C0; Q6ZMA6; Q96L43; Q9NU08; Q9UJN1; Q9UPD9;
DT   30-MAY-2000, integrated into UniProtKB/Swiss-Prot.
DT   16-MAY-2003, sequence version 4.
DT   03-AUG-2022, entry version 190.
DE   RecName: Full=Glypican-4;
DE   AltName: Full=K-glypican;
DE   Contains:
DE     RecName: Full=Secreted glypican-4;
DE   Flags: Precursor;
GN   Name=GPC4; ORFNames=UNQ474/PRO937;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANTS ASP-391 AND VAL-442.
RC   TISSUE=Brain;
RX   PubMed=9787072; DOI=10.1006/geno.1998.5465;
RA   Veugelers M., Vermeesch J., Watanabe K., Yamaguchi Y., Marynen P.,
RA   David G.;
RT   "GPC4, the gene for human K-glypican, flanks GPC3 on Xq26: deletion of the
RT   GPC3-GPC4 gene cluster in one family with Simpson-Golabi-Behmel syndrome.";
RL   Genomics 53:1-11(1998).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANT ASP-391.
RA   Pilia G., Mazzarella R., Huber R., Crisponi L., Lindsay S., Ireland M.,
RA   Cao A., Schlessinger D.;
RL   Submitted (MAY-1998) to the EMBL/GenBank/DDBJ databases.
RN   [3]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANTS ASP-391 AND VAL-442.
RA   Zhang B., Feng Z., Zhou Y., Peng X., Yuan J., Qiang B.;
RL   Submitted (AUG-2001) to the EMBL/GenBank/DDBJ databases.
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX   PubMed=12975309; DOI=10.1101/gr.1293003;
RA   Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA   Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA   Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA   Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA   Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA   Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA   Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA   Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT   "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT   identify novel human secreted and transmembrane proteins: a bioinformatics
RT   assessment.";
RL   Genome Res. 13:2265-2270(2003).
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC   TISSUE=Brain, and Trachea;
RX   PubMed=14702039; DOI=10.1038/ng1285;
RA   Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA   Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA   Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA   Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA   Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA   Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA   Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA   Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA   Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA   Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA   Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA   Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA   Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA   Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA   Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA   Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA   Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA   Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA   Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA   Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA   Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA   Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA   Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA   Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA   Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA   Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA   Isogai T., Sugano S.;
RT   "Complete sequencing and characterization of 21,243 full-length human
RT   cDNAs.";
RL   Nat. Genet. 36:40-45(2004).
RN   [6]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15772651; DOI=10.1038/nature03440;
RA   Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA   Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA   Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA   Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA   Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA   Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA   Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA   Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA   Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA   Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA   Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA   Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA   Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA   Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA   Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA   Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA   Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA   Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA   Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA   Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA   Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA   Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA   Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA   Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA   Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA   Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA   Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA   Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA   Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA   Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA   McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA   Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA   Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA   Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA   Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA   Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA   Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA   Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA   Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA   Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA   d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA   Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA   Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA   Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA   Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA   Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA   Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA   Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA   Rogers J., Bentley D.R.;
RT   "The DNA sequence of the human X chromosome.";
RL   Nature 434:325-337(2005).
RN   [7]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA   Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA   Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA   Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA   Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA   Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA   Hunkapiller M.W., Myers E.W., Venter J.C.;
RL   Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN   [8]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC   TISSUE=Skin;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA project:
RT   the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [9]
RP   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-357, AND IDENTIFICATION BY
RP   MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX   PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA   Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T.,
RA   Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.;
RT   "System-wide temporal characterization of the proteome and phosphoproteome
RT   of human embryonic stem cell differentiation.";
RL   Sci. Signal. 4:RS3-RS3(2011).
RN   [10]
RP   VARIANTS ASP-391 AND VAL-442.
RX   PubMed=10814714; DOI=10.1093/hmg/9.9.1321;
RA   Veugelers M., Cat B.D., Muyldermans S.Y., Reekmans G., Delande N.,
RA   Frints S., Legius E., Fryns J.-P., Schrander-Stumpel C., Weidle B.,
RA   Magdalena N., David G.;
RT   "Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in
RT   patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-
RT   function mutations in the GPC3 gene.";
RL   Hum. Mol. Genet. 9:1321-1328(2000).
RN   [11]
RP   VARIANT LYS-412.
RX   PubMed=29276006; DOI=10.1016/j.ajhg.2017.10.002;
RG   Baylor-Hopkins Center for Mendelian Genomics;
RA   White J.J., Mazzeu J.F., Coban-Akdemir Z., Bayram Y., Bahrambeigi V.,
RA   Hoischen A., van Bon B.W.M., Gezdirici A., Gulec E.Y., Ramond F.,
RA   Touraine R., Thevenon J., Shinawi M., Beaver E., Heeley J., Hoover-Fong J.,
RA   Durmaz C.D., Karabulut H.G., Marzioglu-Ozdemir E., Cayir A., Duz M.B.,
RA   Seven M., Price S., Ferreira B.M., Vianna-Morgante A.M., Ellard S.,
RA   Parrish A., Stals K., Flores-Daboub J., Jhangiani S.N., Gibbs R.A.,
RA   Brunner H.G., Sutton V.R., Lupski J.R., Carvalho C.M.B.;
RT   "WNT signaling perturbations underlie the genetic heterogeneity of Robinow
RT   syndrome.";
RL   Am. J. Hum. Genet. 102:27-43(2018).
RN   [12]
RP   VARIANTS KPTS 496-GLU--ARG-556 DEL AND 506-GLN--ARG-556 DEL,
RP   CHARACTERIZATION OF VARIANTS KPTS 496-GLU--ARG-556 DEL AND 506-GLN--ARG-556
RP   DEL, AND INVOLVEMENT IN KPTS.
RX   PubMed=30982611; DOI=10.1016/j.ajhg.2019.02.026;
RA   Amor D.J., Stephenson S.E.M., Mustapha M., Mensah M.A., Ockeloen C.W.,
RA   Lee W.S., Tankard R.M., Phelan D.G., Shinawi M., de Brouwer A.P.M.,
RA   Pfundt R., Dowling C., Toler T.L., Sutton V.R., Agolini E., Rinelli M.,
RA   Capolino R., Martinelli D., Zampino G., Dumic M., Reardon W.,
RA   Shaw-Smith C., Leventer R.J., Delatycki M.B., Kleefstra T., Mundlos S.,
RA   Mortier G., Bahlo M., Allen N.J., Lockhart P.J.;
RT   "Pathogenic variants in GPC4 cause Keipert Syndrome.";
RL   Am. J. Hum. Genet. 104:914-924(2019).
CC   -!- FUNCTION: Cell surface proteoglycan that bears heparan sulfate. May be
CC       involved in the development of kidney tubules and of the central
CC       nervous system (By similarity). {ECO:0000250}.
CC   -!- INTERACTION:
CC       O75487; Q9NRD5: PICK1; NbExp=3; IntAct=EBI-3050469, EBI-79165;
CC   -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Lipid-anchor, GPI-
CC       anchor {ECO:0000250}; Extracellular side {ECO:0000250}.
CC   -!- SUBCELLULAR LOCATION: [Secreted glypican-4]: Secreted, extracellular
CC       space {ECO:0000250}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=O75487-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=O75487-2; Sequence=VSP_056570;
CC   -!- DISEASE: Keipert syndrome (KPTS) [MIM:301026]: An X-linked recessive
CC       syndrome characterized by craniofacial and digital abnormalities.
CC       Clinical features include a prominent forehead, a flat midface,
CC       hypertelorism, a broad nose, downturned corners of mouth, and widening
CC       of all distal phalanges. Additional variable features are cognitive
CC       impairment and sensorineural deafness. {ECO:0000269|PubMed:30982611}.
CC       Note=The disease is caused by variants affecting the gene represented
CC       in this entry.
CC   -!- SIMILARITY: Belongs to the glypican family. {ECO:0000305}.
CC   ---------------------------------------------------------------------------
CC   Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC   Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC   ---------------------------------------------------------------------------
DR   EMBL; AF030186; AAC69991.1; -; mRNA.
DR   EMBL; AF064826; AAC31899.1; -; mRNA.
DR   EMBL; AY358507; AAQ88871.1; -; mRNA.
DR   EMBL; AY052833; AAL11018.1; -; mRNA.
DR   EMBL; AK304207; BAG65082.1; -; mRNA.
DR   EMBL; AK312605; BAG35494.1; -; mRNA.
DR   EMBL; AL034400; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL109623; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471107; EAX11772.1; -; Genomic_DNA.
DR   EMBL; BC017166; AAH17166.1; -; mRNA.
DR   CCDS; CCDS14637.1; -. [O75487-1]
DR   RefSeq; NP_001439.2; NM_001448.2. [O75487-1]
DR   AlphaFoldDB; O75487; -.
DR   SMR; O75487; -.
DR   BioGRID; 108530; 69.
DR   IntAct; O75487; 26.
DR   MINT; O75487; -.
DR   STRING; 9606.ENSP00000359864; -.
DR   GlyGen; O75487; 5 sites, 2 O-linked glycans (1 site).
DR   iPTMnet; O75487; -.
DR   PhosphoSitePlus; O75487; -.
DR   SwissPalm; O75487; -.
DR   BioMuta; GPC4; -.
DR   EPD; O75487; -.
DR   jPOST; O75487; -.
DR   MassIVE; O75487; -.
DR   MaxQB; O75487; -.
DR   PaxDb; O75487; -.
DR   PeptideAtlas; O75487; -.
DR   PRIDE; O75487; -.
DR   ProteomicsDB; 50045; -. [O75487-1]
DR   ProteomicsDB; 5807; -.
DR   Antibodypedia; 30267; 421 antibodies from 30 providers.
DR   DNASU; 2239; -.
DR   Ensembl; ENST00000370828.4; ENSP00000359864.3; ENSG00000076716.9. [O75487-1]
DR   GeneID; 2239; -.
DR   KEGG; hsa:2239; -.
DR   MANE-Select; ENST00000370828.4; ENSP00000359864.3; NM_001448.3; NP_001439.2.
DR   UCSC; uc004exc.2; human. [O75487-1]
DR   CTD; 2239; -.
DR   DisGeNET; 2239; -.
DR   GeneCards; GPC4; -.
DR   GeneReviews; GPC4; -.
DR   HGNC; HGNC:4452; GPC4.
DR   HPA; ENSG00000076716; Low tissue specificity.
DR   MalaCards; GPC4; -.
DR   MIM; 300168; gene.
DR   MIM; 301026; phenotype.
DR   neXtProt; NX_O75487; -.
DR   OpenTargets; ENSG00000076716; -.
DR   Orphanet; 2662; Keipert syndrome.
DR   Orphanet; 373; Simpson-Golabi-Behmel syndrome.
DR   PharmGKB; PA28833; -.
DR   VEuPathDB; HostDB:ENSG00000076716; -.
DR   eggNOG; KOG3821; Eukaryota.
DR   GeneTree; ENSGT01050000244897; -.
DR   HOGENOM; CLU_024658_2_0_1; -.
DR   InParanoid; O75487; -.
DR   OMA; LKNCNEV; -.
DR   OrthoDB; 611422at2759; -.
DR   PhylomeDB; O75487; -.
DR   TreeFam; TF105317; -.
DR   PathwayCommons; O75487; -.
DR   Reactome; R-HSA-1971475; A tetrasaccharide linker sequence is required for GAG synthesis.
DR   Reactome; R-HSA-2022928; HS-GAG biosynthesis.
DR   Reactome; R-HSA-2024096; HS-GAG degradation.
DR   Reactome; R-HSA-3560783; Defective B4GALT7 causes EDS, progeroid type.
DR   Reactome; R-HSA-3560801; Defective B3GAT3 causes JDSSDHD.
DR   Reactome; R-HSA-3656237; Defective EXT2 causes exostoses 2.
DR   Reactome; R-HSA-3656253; Defective EXT1 causes exostoses 1, TRPS2 and CHDS.
DR   Reactome; R-HSA-4420332; Defective B3GALT6 causes EDSP2 and SEMDJL1.
DR   Reactome; R-HSA-9694614; Attachment and Entry.
DR   Reactome; R-HSA-975634; Retinoid metabolism and transport.
DR   SignaLink; O75487; -.
DR   SIGNOR; O75487; -.
DR   BioGRID-ORCS; 2239; 6 hits in 687 CRISPR screens.
DR   ChiTaRS; GPC4; human.
DR   GeneWiki; Glypican_4; -.
DR   GenomeRNAi; 2239; -.
DR   Pharos; O75487; Tbio.
DR   PRO; PR:O75487; -.
DR   Proteomes; UP000005640; Chromosome X.
DR   RNAct; O75487; protein.
DR   Bgee; ENSG00000076716; Expressed in ventricular zone and 153 other tissues.
DR   Genevisible; O75487; HS.
DR   GO; GO:0046658; C:anchored component of plasma membrane; IEA:InterPro.
DR   GO; GO:0009986; C:cell surface; IBA:GO_Central.
DR   GO; GO:0062023; C:collagen-containing extracellular matrix; IEA:InterPro.
DR   GO; GO:0009897; C:external side of plasma membrane; IDA:MGI.
DR   GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
DR   GO; GO:0098978; C:glutamatergic synapse; IEA:Ensembl.
DR   GO; GO:0005796; C:Golgi lumen; TAS:Reactome.
DR   GO; GO:0043202; C:lysosomal lumen; TAS:Reactome.
DR   GO; GO:0005634; C:nucleus; HDA:UniProtKB.
DR   GO; GO:0005886; C:plasma membrane; TAS:Reactome.
DR   GO; GO:0045202; C:synapse; IBA:GO_Central.
DR   GO; GO:1904929; F:coreceptor activity involved in Wnt signaling pathway, planar cell polarity pathway; NAS:ParkinsonsUK-UCL.
DR   GO; GO:0016477; P:cell migration; IBA:GO_Central.
DR   GO; GO:0098696; P:regulation of neurotransmitter receptor localization to postsynaptic specialization membrane; IBA:GO_Central.
DR   GO; GO:1905606; P:regulation of presynapse assembly; IBA:GO_Central.
DR   GO; GO:1905475; P:regulation of protein localization to membrane; IBA:GO_Central.
DR   GO; GO:0009966; P:regulation of signal transduction; IEA:InterPro.
DR   GO; GO:0099560; P:synaptic membrane adhesion; IBA:GO_Central.
DR   GO; GO:0016055; P:Wnt signaling pathway; IMP:UniProtKB.
DR   InterPro; IPR001863; Glypican.
DR   InterPro; IPR031180; Glypican-4.
DR   InterPro; IPR019803; Glypican_CS.
DR   PANTHER; PTHR10822; PTHR10822; 1.
DR   PANTHER; PTHR10822:SF25; PTHR10822:SF25; 1.
DR   Pfam; PF01153; Glypican; 1.
DR   PROSITE; PS01207; GLYPICAN; 1.
PE   1: Evidence at protein level;
KW   Alternative splicing; Cell membrane; Deafness; Disease variant;
KW   Glycoprotein; GPI-anchor; Heparan sulfate; Intellectual disability;
KW   Lipoprotein; Membrane; Phosphoprotein; Proteoglycan; Reference proteome;
KW   Secreted; Signal.
FT   SIGNAL          1..18
FT                   /evidence="ECO:0000255"
FT   CHAIN           19..529
FT                   /note="Glypican-4"
FT                   /id="PRO_0000012315"
FT   CHAIN           19..?
FT                   /note="Secreted glypican-4"
FT                   /id="PRO_0000333847"
FT   PROPEP          530..556
FT                   /note="Removed in mature form"
FT                   /evidence="ECO:0000255"
FT                   /id="PRO_0000012316"
FT   MOD_RES         357
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0007744|PubMed:21406692"
FT   LIPID           529
FT                   /note="GPI-anchor amidated serine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        494
FT                   /note="O-linked (Xyl...) (glycosaminoglycan) serine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        498
FT                   /note="O-linked (Xyl...) (glycosaminoglycan) serine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        500
FT                   /note="O-linked (Xyl...) (glycosaminoglycan) serine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        514
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   VAR_SEQ         1..70
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_056570"
FT   VARIANT         391
FT                   /note="E -> D (in dbSNP:rs1129980)"
FT                   /evidence="ECO:0000269|PubMed:10814714,
FT                   ECO:0000269|PubMed:9787072, ECO:0000269|Ref.2,
FT                   ECO:0000269|Ref.3"
FT                   /id="VAR_016191"
FT   VARIANT         412
FT                   /note="R -> K (found in a patient with features of Robinow
FT                   syndrome; unknown pathological significance;
FT                   dbSNP:rs1556022962)"
FT                   /evidence="ECO:0000269|PubMed:29276006"
FT                   /id="VAR_083241"
FT   VARIANT         442
FT                   /note="A -> V (in dbSNP:rs1048369)"
FT                   /evidence="ECO:0000269|PubMed:10814714,
FT                   ECO:0000269|PubMed:9787072, ECO:0000269|Ref.3"
FT                   /id="VAR_016192"
FT   VARIANT         496..556
FT                   /note="Missing (in KPTS; increased proteasomal
FT                   degradation)"
FT                   /evidence="ECO:0000269|PubMed:30982611"
FT                   /id="VAR_082622"
FT   VARIANT         506..556
FT                   /note="Missing (in KPTS; increased proteasomal
FT                   degradation)"
FT                   /evidence="ECO:0000269|PubMed:30982611"
FT                   /id="VAR_082623"
SQ   SEQUENCE   556 AA;  62412 MW;  827E07FAA0BD8188 CRC64;
     MARFGLPALL CTLAVLSAAL LAAELKSKSC SEVRRLYVSK GFNKNDAPLH EINGDHLKIC
     PQGSTCCSQE MEEKYSLQSK DDFKSVVSEQ CNHLQAVFAS RYKKFDEFFK ELLENAEKSL
     NDMFVKTYGH LYMQNSELFK DLFVELKRYY VVGNVNLEEM LNDFWARLLE RMFRLVNSQY
     HFTDEYLECV SKYTEQLKPF GDVPRKLKLQ VTRAFVAART FAQGLAVAGD VVSKVSVVNP
     TAQCTHALLK MIYCSHCRGL VTVKPCYNYC SNIMRGCLAN QGDLDFEWNN FIDAMLMVAE
     RLEGPFNIES VMDPIDVKIS DAIMNMQDNS VQVSQKVFQG CGPPKPLPAG RISRSISESA
     FSARFRPHHP EERPTTAAGT SLDRLVTDVK EKLKQAKKFW SSLPSNVCND ERMAAGNGNE
     DDCWNGKGKS RYLFAVTGNG LANQGNNPEV QVDTSKPDIL ILRQIMALRV MTSKMKNAYN
     GNDVDFFDIS DESSGEGSGS GCEYQQCPSE FDYNATDHAG KSANEKADSA GVRPGAQAYL
     LTVFCILFLV MQREWR
 
 
维奥蛋白资源库 - 中文蛋白资源 CopyRight © 2010-2024