GPTC3_HUMAN
ID GPTC3_HUMAN Reviewed; 525 AA.
AC Q96I76; Q5JYH2; Q8NDJ2; Q9H9Z3;
DT 04-JAN-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 135.
DE RecName: Full=G patch domain-containing protein 3;
GN Name=GPATCH3; Synonyms=GPATC3;
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 [LARGE SCALE MRNA].
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 [5]
RP FUNCTION, AND INTERACTION WITH MAVS.
RX PubMed=28414768; DOI=10.1371/journal.ppat.1006328;
RA Nie Y., Ran Y., Zhang H.Y., Huang Z.F., Pan Z.Y., Wang S.Y., Wang Y.Y.;
RT "GPATCH3 negatively regulates RLR-mediated innate antiviral responses by
RT disrupting the assembly of VISA signalosome.";
RL PLoS Pathog. 13:E1006328-E1006328(2017).
RN [6]
RP FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, POSSIBLE INVOLVEMENT IN
RP CONGENITAL GLAUCOMA, VARIANTS MET-23; CYS-137; SER-234 AND GLU-475, AND
RP CHARACTERIZATION OF VARIANTS SER-234 AND GLU-475.
RX PubMed=28397860; DOI=10.1038/srep46175;
RA Ferre-Fernandez J.J., Aroca-Aguilar J.D., Medina-Trillo C.,
RA Bonet-Fernandez J.M., Mendez-Hernandez C.D., Morales-Fernandez L.,
RA Corton M., Cabanero-Valera M.J., Gut M., Tonda R., Ayuso C.,
RA Coca-Prados M., Garcia-Feijoo J., Escribano J.;
RT "Whole-exome sequencing of congenital glaucoma patients reveals
RT hypermorphic variants in GPATCH3, a new gene involved in ocular and
RT craniofacial development.";
RL Sci. Rep. 7:46175-46175(2017).
CC -!- FUNCTION: Involved in transcriptional regulation. It is able to
CC activate transcription from the CXCR4 promoter and therefore it might
CC control neural crest cell migration involved in ocular and craniofacial
CC development (PubMed:28397860). Is a negative regulator of immune
CC antiviral response, acting via down-regulation of RIG-I-like receptors
CC signaling and inhibition of type I interferon production. The control
CC mechanism involves interaction with mitochondrial MAVS and inhibition
CC of MAVS assembly with downstream proteins implicated in antiviral
CC response, such as TBK1 and TRAF6 (PubMed:28414768).
CC {ECO:0000269|PubMed:28397860, ECO:0000269|PubMed:28414768}.
CC -!- SUBUNIT: Interacts with mitochondrial MAVS; the interaction is markedly
CC increased upon viral infection. {ECO:0000269|PubMed:28414768}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:28397860}. Cytoplasm
CC {ECO:0000269|PubMed:28397860}.
CC -!- TISSUE SPECIFICITY: Expressed in ocular tissues including retinal
CC pigment epithelium, cornea, ciliary muscle and non-pigmented ciliary
CC epithelium. Also expressed in optic nerve, cartilage, skin and lymph
CC node. {ECO:0000269|PubMed:28397860}.
CC -!- DISEASE: Note=GPATCH3 variants may be involved in the pathogenesis of
CC congenital glaucoma, an ocular disease characterized by marked increase
CC of intraocular pressure at birth or early childhood, large ocular
CC globes (buphthalmos) and corneal edema. It results from developmental
CC defects of the trabecular meshwork and anterior chamber angle of the
CC eye that prevent adequate drainage of aqueous humor.
CC {ECO:0000269|PubMed:28397860}.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAD38742.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AK022517; BAB14074.1; -; mRNA.
DR EMBL; AL833886; CAD38742.1; ALT_INIT; mRNA.
DR EMBL; AL356390; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL034380; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC007767; AAH07767.1; -; mRNA.
DR CCDS; CCDS290.1; -.
DR RefSeq; NP_071361.2; NM_022078.2.
DR AlphaFoldDB; Q96I76; -.
DR BioGRID; 121982; 4.
DR IntAct; Q96I76; 2.
DR STRING; 9606.ENSP00000354645; -.
DR iPTMnet; Q96I76; -.
DR PhosphoSitePlus; Q96I76; -.
DR BioMuta; GPATCH3; -.
DR DMDM; 57012858; -.
DR EPD; Q96I76; -.
DR MassIVE; Q96I76; -.
DR MaxQB; Q96I76; -.
DR PaxDb; Q96I76; -.
DR PeptideAtlas; Q96I76; -.
DR PRIDE; Q96I76; -.
DR ProteomicsDB; 76815; -.
DR TopDownProteomics; Q96I76; -.
DR Antibodypedia; 35286; 34 antibodies from 13 providers.
DR DNASU; 63906; -.
DR Ensembl; ENST00000361720.10; ENSP00000354645.5; ENSG00000198746.13.
DR GeneID; 63906; -.
DR KEGG; hsa:63906; -.
DR MANE-Select; ENST00000361720.10; ENSP00000354645.5; NM_022078.3; NP_071361.2.
DR UCSC; uc001bne.4; human.
DR CTD; 63906; -.
DR DisGeNET; 63906; -.
DR GeneCards; GPATCH3; -.
DR HGNC; HGNC:25720; GPATCH3.
DR HPA; ENSG00000198746; Low tissue specificity.
DR MIM; 617486; gene.
DR neXtProt; NX_Q96I76; -.
DR OpenTargets; ENSG00000198746; -.
DR PharmGKB; PA162390065; -.
DR VEuPathDB; HostDB:ENSG00000198746; -.
DR eggNOG; ENOG502QQ66; Eukaryota.
DR GeneTree; ENSGT00390000004191; -.
DR HOGENOM; CLU_025388_0_0_1; -.
DR InParanoid; Q96I76; -.
DR OMA; FPYKTKY; -.
DR OrthoDB; 1238918at2759; -.
DR PhylomeDB; Q96I76; -.
DR TreeFam; TF314766; -.
DR PathwayCommons; Q96I76; -.
DR SignaLink; Q96I76; -.
DR BioGRID-ORCS; 63906; 17 hits in 1078 CRISPR screens.
DR ChiTaRS; GPATCH3; human.
DR GenomeRNAi; 63906; -.
DR Pharos; Q96I76; Tbio.
DR PRO; PR:Q96I76; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q96I76; protein.
DR Bgee; ENSG00000198746; Expressed in granulocyte and 105 other tissues.
DR ExpressionAtlas; Q96I76; baseline and differential.
DR Genevisible; Q96I76; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0003676; F:nucleic acid binding; IEA:InterPro.
DR GO; GO:0039536; P:negative regulation of RIG-I signaling pathway; IMP:UniProtKB.
DR GO; GO:0032480; P:negative regulation of type I interferon production; IMP:UniProtKB.
DR GO; GO:0045893; P:positive regulation of transcription, DNA-templated; IDA:UniProtKB.
DR InterPro; IPR000467; G_patch_dom.
DR InterPro; IPR040341; GPATCH3.
DR PANTHER; PTHR14390; PTHR14390; 1.
DR Pfam; PF01585; G-patch; 1.
DR SMART; SM00443; G_patch; 1.
DR PROSITE; PS50174; G_PATCH; 1.
PE 1: Evidence at protein level;
KW Cytoplasm; Disease variant; Glaucoma; Nucleus; Reference proteome;
KW Transcription; Transcription regulation.
FT CHAIN 1..525
FT /note="G patch domain-containing protein 3"
FT /id="PRO_0000087568"
FT DOMAIN 410..458
FT /note="G-patch"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00092"
FT REGION 264..316
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 278..294
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 295..316
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 23
FT /note="V -> M (found in a patient with primary congenital
FT glaucoma; unknown pathological significance;
FT dbSNP:rs764461662)"
FT /evidence="ECO:0000269|PubMed:28397860"
FT /id="VAR_079015"
FT VARIANT 137
FT /note="R -> C (found in a patient with secondary congenital
FT glaucoma associated with anterior segment dysgenesis and
FT microphthalmia; unknown pathological significance;
FT dbSNP:rs879261101)"
FT /evidence="ECO:0000269|PubMed:28397860"
FT /id="VAR_079016"
FT VARIANT 234
FT /note="N -> S (found in patients with primary congenital
FT glaucoma; unknown pathological significance; slightly
FT increased transactivation activity on CXCR4 promoter; no
FT effect on nuclear localization; dbSNP:rs35243557)"
FT /evidence="ECO:0000269|PubMed:28397860"
FT /id="VAR_051015"
FT VARIANT 475
FT /note="G -> E (found in a patient with primary congenital
FT glaucoma; unknown pathological significance; slightly
FT increased transactivation activity on CXCR4 promoter; no
FT effect on nuclear localization; dbSNP:rs376709877)"
FT /evidence="ECO:0000269|PubMed:28397860"
FT /id="VAR_079017"
FT CONFLICT 154
FT /note="S -> P (in Ref. 1; BAB14074)"
FT /evidence="ECO:0000305"
FT CONFLICT 252
FT /note="Y -> C (in Ref. 1; BAB14074)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 525 AA; 59338 MW; 718CB6E48D4E3AEE CRC64;
MAVPGEAEEE ATVYLVVSGI PSVLRSAHLR SYFSQFREER GGGFLCFHYR HRPERAPPQA
APNSALIPTD PAAEGQLLSQ TSATDVRPLS TRDSTPIQTR TCCCVISVRG LAQAQRLIRM
YSGRRWLDSH GTWLPGRCLI RRLRLPTEAS GLGSFPFKTR KELQSWKAEN EAFTLADLKQ
LPELNPPVLM PRGNVGTPLR VFLELIRACR LPPRIITQLQ LQFPKTGSSR RYGNVPFEYE
DSETVEQEEL VYTAEGEEIP QGTYLADIPA SPCGEPEEEV GKEEEEESHS DEDDDRGEEW
ERHEALHEDV TGQERTTEQL FEEEIELKWE KGGSGLVFYT DAQFWQEEEG DFDEQTADDW
DVDMSVYYDR DGGDKDARDS VQMRLEQRLR DGQEDGSVIE RQVGTFERHT KGIGRKVMER
QGWAEGQGLG CRCSGVPEAL DSDGQHPRCK RGLGYHGEKL QPFGQLKRPR RNGLGLISTI
YDEPLPQDQT ESLLRRQPPT SMKFRTDMAF VRGSSCASDS PSLPD
