GRD2I_HUMAN
ID GRD2I_HUMAN Reviewed; 1211 AA.
AC A4D2P6;
DT 29-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 29-APR-2008, sequence version 2.
DT 03-AUG-2022, entry version 116.
DE RecName: Full=Delphilin;
DE AltName: Full=Glutamate receptor, ionotropic, delta 2-interacting protein 1;
GN Name=GRID2IP;
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 GENOMIC DNA].
RX PubMed=12853948; DOI=10.1038/nature01782;
RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA Wilson R.K.;
RT "The DNA sequence of human chromosome 7.";
RL Nature 424:157-164(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12690205; DOI=10.1126/science.1083423;
RA Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K.,
RA Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R.,
RA Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A.,
RA Kanematsu E., Gentles S., Christopoulos C.C., Choufani S., Kwasnicka D.,
RA Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S.,
RA Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R.,
RA Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N.,
RA Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E.,
RA Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R.,
RA Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T.,
RA Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W.,
RA Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A.,
RA Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X.,
RA Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E.,
RA Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H.,
RA Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J.,
RA Adams M.D., Tsui L.-C.;
RT "Human chromosome 7: DNA sequence and biology.";
RL Science 300:767-772(2003).
RN [3]
RP GENE STRUCTURE.
RX PubMed=14612983;
RA Katoh M., Katoh M.;
RT "Identification and characterization of human GRID2IP gene and rat Grid2ip
RT gene in silico.";
RL Int. J. Mol. Med. 12:1015-1019(2003).
RN [4]
RP GENE STRUCTURE.
RC TISSUE=Cerebellum;
RX PubMed=16835239; DOI=10.1074/jbc.m602044200;
RA Matsuda K., Matsuda S., Gladding C.M., Yuzaki M.;
RT "Characterization of the delta2 glutamate receptor-binding protein
RT delphilin: splicing variants with differential palmitoylation and an
RT additional PDZ domain.";
RL J. Biol. Chem. 281:25577-25587(2006).
CC -!- FUNCTION: Postsynaptic scaffolding protein at the parallel fiber-
CC Purkinje cell synapse, where it may serve to link GRID2 with actin
CC cytoskeleton and various signaling molecules. {ECO:0000250}.
CC -!- SUBUNIT: Interacts with C-terminus of the glutamate receptor GRID2 via
CC PDZ domain. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Postsynaptic cell membrane {ECO:0000250}.
CC -!- SEQUENCE CAUTION:
CC Sequence=EAL23724.1; Type=Erroneous gene model prediction; Evidence={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; AC072052; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH236963; EAL23724.1; ALT_SEQ; Genomic_DNA.
DR CCDS; CCDS47537.1; -.
DR RefSeq; NP_001138590.1; NM_001145118.1.
DR AlphaFoldDB; A4D2P6; -.
DR SMR; A4D2P6; -.
DR BioGRID; 134314; 7.
DR DIP; DIP-59489N; -.
DR IntAct; A4D2P6; 5.
DR STRING; 9606.ENSP00000397351; -.
DR iPTMnet; A4D2P6; -.
DR PhosphoSitePlus; A4D2P6; -.
DR BioMuta; GRID2IP; -.
DR jPOST; A4D2P6; -.
DR MassIVE; A4D2P6; -.
DR PaxDb; A4D2P6; -.
DR PeptideAtlas; A4D2P6; -.
DR PRIDE; A4D2P6; -.
DR ProteomicsDB; 648; -.
DR Antibodypedia; 49924; 85 antibodies from 17 providers.
DR DNASU; 392862; -.
DR Ensembl; ENST00000457091.3; ENSP00000397351.2; ENSG00000215045.9.
DR GeneID; 392862; -.
DR KEGG; hsa:392862; -.
DR MANE-Select; ENST00000457091.3; ENSP00000397351.2; NM_001145118.2; NP_001138590.1.
DR UCSC; uc011jwx.3; human.
DR CTD; 392862; -.
DR DisGeNET; 392862; -.
DR GeneCards; GRID2IP; -.
DR HGNC; HGNC:18464; GRID2IP.
DR HPA; ENSG00000215045; Tissue enriched (brain).
DR MIM; 610639; gene.
DR neXtProt; NX_A4D2P6; -.
DR OpenTargets; ENSG00000215045; -.
DR PharmGKB; PA134951825; -.
DR VEuPathDB; HostDB:ENSG00000215045; -.
DR eggNOG; KOG1922; Eukaryota.
DR eggNOG; KOG3528; Eukaryota.
DR eggNOG; KOG3589; Eukaryota.
DR GeneTree; ENSGT00940000157625; -.
DR InParanoid; A4D2P6; -.
DR OMA; CENVPPS; -.
DR OrthoDB; 790964at2759; -.
DR PhylomeDB; A4D2P6; -.
DR TreeFam; TF329416; -.
DR PathwayCommons; A4D2P6; -.
DR SignaLink; A4D2P6; -.
DR SIGNOR; A4D2P6; -.
DR BioGRID-ORCS; 392862; 10 hits in 1069 CRISPR screens.
DR ChiTaRS; GRID2IP; human.
DR GenomeRNAi; 392862; -.
DR Pharos; A4D2P6; Tbio.
DR PRO; PR:A4D2P6; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; A4D2P6; protein.
DR Bgee; ENSG00000215045; Expressed in right hemisphere of cerebellum and 87 other tissues.
DR ExpressionAtlas; A4D2P6; baseline and differential.
DR GO; GO:0070161; C:anchoring junction; IEA:UniProtKB-KW.
DR GO; GO:0045211; C:postsynaptic membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0060292; P:long-term synaptic depression; IEA:Ensembl.
DR Gene3D; 1.20.58.2220; -; 1.
DR Gene3D; 2.30.42.10; -; 2.
DR InterPro; IPR015425; FH2_Formin.
DR InterPro; IPR042201; FH2_Formin_sf.
DR InterPro; IPR001478; PDZ.
DR InterPro; IPR036034; PDZ_sf.
DR Pfam; PF02181; FH2; 1.
DR Pfam; PF00595; PDZ; 2.
DR SMART; SM00498; FH2; 1.
DR SMART; SM00228; PDZ; 2.
DR SUPFAM; SSF50156; SSF50156; 2.
DR PROSITE; PS51444; FH2; 1.
DR PROSITE; PS50106; PDZ; 2.
PE 3: Inferred from homology;
KW Cell membrane; Membrane; Phosphoprotein; Postsynaptic cell membrane;
KW Reference proteome; Repeat; Synapse.
FT CHAIN 1..1211
FT /note="Delphilin"
FT /id="PRO_0000331624"
FT DOMAIN 3..84
FT /note="PDZ 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00143"
FT DOMAIN 279..356
FT /note="PDZ 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00143"
FT DOMAIN 820..1211
FT /note="FH2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00774"
FT REGION 226..269
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 478..502
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 525..549
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 568..600
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 618..672
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 718..783
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 229..243
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 568..597
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 618..639
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 640..661
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 718..748
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 749..766
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 580
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q0QWG9"
FT MOD_RES 621
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q0QWG9"
FT MOD_RES 652
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q0QWG9"
FT MOD_RES 655
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q0QWG9"
FT VARIANT 20
FT /note="R -> Q (in dbSNP:rs11761490)"
FT /id="VAR_042909"
SQ SEQUENCE 1211 AA; 132276 MW; 44D7B5C97461E2E0 CRC64;
MATTATPATN QGWPEDFGFR LGGSGPCFVL EVAKGSSAHA GGLRPGDQIL EVEGLAVGGL
SRERLVRLAR RCPRVPPSLG VLPAPDGGPG PGSGPAAPTT VLRAPRCGRG LALGRELLRL
AGRKRPDAVH RERRRKAQEF SRKVDEILGD QPTAKEQVFA ALKQFAAEQR VDDLVWTLTL
ALPREACGPL LDNLRIFIPK KHRARFDEVV SQGLLGKLCR ARRAQGAQRL RRSRSEERPE
RLLVSTRASA PPRRPDEPPP RRASLLVGGL AGPGGARRTV RVYKGNKSFG FTLRGHGPVW
IESVLPGSPA DNAALKSGDR ILFLNGLDMR NCSHDKVVSM LQGSGAMPTL VVEEGLVPFA
SDSDSLDSPN PSSALTSLQW VAEILPSSIR VQGRTFSQQL EHLLTPPERY GVCRALESFF
QHRNIDTLIV DVYPVLDTPA KQVLWQFIYQ LLTYEEQELC QEKIACFLGY TAMTAEPEPE
LDLESEPTPE PQPRSSLRAS SMCRRSLRSQ GLEAGLSCGP SECPEMPLPL IPGERQAGDG
TSLPETPNPK MMSAVYAELE SRLNSSFKGK MGTVSKSRAS PPGPSPAVTT GPRTLSGVSW
PSERLLPSPC YHPLCSGGLA SPSSSESHPY ASLDSSRAPS PQPGPGPICP DSPPSPDPTR
PPSRRKLFTF SHPVRSRDTD RFLDVLSEQL GPRVTIVDDF LTPENDYEEM SFHDDQGSFV
TNERSSASDC ISSSEEGSSL TYSSISDHIP PPPLSPPPPP PLPFHDAKPS SRSSDGSRGP
AQALAKPLTQ LSHPVPPPPP PPLPPPVPCA PPMLSRGLGH RRSETSHMSV KRLRWEQVEN
SEGTIWGQLG EDSDYDKLSD MVKYLDLELH FGTQKPAKPV PGPEPFRKKE VVEILSHKKA
YNTSILLAHL KLSPAELRQV LMSMEPRRLE PAHLAQLLLF APDADEEQRY QAFREAPGRL
SEPDQFVLQM LSVPEYKTRL RSLHFQATLQ EKTEEIRGSL ECLRQASLEL KNSRKLAKIL
EFVLAMGNYL NDGQPKTNKT TGFKINFLTE LNSTKTVDGK STFLHILAKS LSQHFPELLG
FAQDLPTVPL AAKVNQRALT SDLADLHGTI SEIQDACQSI SPSSEDKFAM VMSSFLETAQ
PALRALDGLQ REAMEELGKA LAFFGEDSKA TTSEAFFGIF AEFMSKFERA LSDLQAGEGL
RSSGMVSPLA W
