ID FRPD4_HUMAN Reviewed; 1322 AA.
AC Q14CM0; A8K0X9; O15032;
DT 23-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 22-AUG-2006, sequence version 1.
DT 01-MAY-2013, entry version 61.
DE RecName: Full=FERM and PDZ domain-containing protein 4;
DE AltName: Full=PDZ domain-containing protein 10;
DE AltName: Full=PSD-95-interacting regulator of spine morphogenesis;
DE Short=Preso;
GN Name=FRMPD4; Synonyms=KIAA0316, PDZD10, PDZK10;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=9205841; DOI=10.1093/dnares/4.2.141;
RA Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., Miyajima N.,
RA Tanaka A., Kotani H., Nomura N., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. VII.
RT The complete sequences of 100 new cDNA clones from brain which can
RT code for large proteins in vitro.";
RL DNA Res. 4:141-150(1997).
RN [2]
RP SEQUENCE REVISION.
RA Ohara O., Nagase T., Kikuno R., Nomura N.;
RL Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Amygdala;
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.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA 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.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., 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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
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
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP FUNCTION, INTERACTION WITH DLG1; DLG2; DLG3; DLG4; ARHGEF7 AND
RP PHOSPHATIDYLINOSITOL-4,5-BIPHOSPHATE, DOMAIN FERM, SUBCELLULAR
RP LOCATION, AND MUTAGENESIS OF ARG-102; 1319-GLU--VAL-1322 AND THR-1320.
RX PubMed=19118189; DOI=10.1523/JNEUROSCI.3112-08.2008;
RA Lee H.W., Choi J., Shin H., Kim K., Yang J., Na M., Choi S.Y.,
RA Kang G.B., Eom S.H., Kim H., Kim E.;
RT "Preso, a novel PSD-95-interacting FERM and PDZ domain protein that
RT regulates dendritic spine morphogenesis.";
RL J. Neurosci. 28:14546-14556(2008).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Leukemic T-cell;
RX PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA Rodionov V., Han D.K.;
RT "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT reveals system-wide modulation of protein-protein interactions.";
RL Sci. Signal. 2:RA46-RA46(2009).
CC -!- FUNCTION: Positive regulator of dendritic spine morphogenesis and
CC density. Required for the maintenance of excitatory synaptic
CC transmission. Binds phosphatidylinositol 4,5-bisphosphate.
CC -!- SUBUNIT: Interacts (via C-terminus) with DLG1, DLG2, DLG3 and
CC DLG4/PSD95. Interacts (via N-terminus) with ARHGEF7; the
CC interaction is mediated by the PDZ domain.
CC -!- SUBCELLULAR LOCATION: Cell projection, dendritic spine.
CC -!- DOMAIN: The FERM domain mediates the interaction with
CC phosphatidylinositol 4,5-bisphosphate.
CC -!- SIMILARITY: Contains 1 FERM domain.
CC -!- SIMILARITY: Contains 1 PDZ (DHR) domain.
CC -!- SIMILARITY: Contains 1 WW domain.
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DR EMBL; AB002314; BAA20774.3; -; mRNA.
DR EMBL; AK289694; BAF82383.1; -; mRNA.
DR EMBL; BC113700; AAI13701.1; -; mRNA.
DR EMBL; BC113702; AAI13703.1; -; mRNA.
DR IPI; IPI00187159; -.
DR RefSeq; NP_055543.2; NM_014728.3.
DR UniGene; Hs.657507; -.
DR ProteinModelPortal; Q14CM0; -.
DR IntAct; Q14CM0; 3.
DR MINT; MINT-2795491; -.
DR STRING; 9606.ENSP00000370057; -.
DR PhosphoSite; Q14CM0; -.
DR DMDM; 121948742; -.
DR PaxDb; Q14CM0; -.
DR PRIDE; Q14CM0; -.
DR DNASU; 9758; -.
DR Ensembl; ENST00000380682; ENSP00000370057; ENSG00000169933.
DR GeneID; 9758; -.
DR KEGG; hsa:9758; -.
DR UCSC; uc004cuz.2; human.
DR CTD; 9758; -.
DR GeneCards; GC0XP012066; -.
DR H-InvDB; HIX0016653; -.
DR HGNC; HGNC:29007; FRMPD4.
DR HPA; HPA035580; -.
DR MIM; 300838; gene.
DR neXtProt; NX_Q14CM0; -.
DR PharmGKB; PA134977575; -.
DR eggNOG; NOG237011; -.
DR HOGENOM; HOG000090222; -.
DR HOVERGEN; HBG106593; -.
DR OMA; QETGTEN; -.
DR OrthoDB; EOG461438; -.
DR ChiTaRS; FRMPD4; human.
DR GenomeRNAi; 9758; -.
DR NextBio; 36727; -.
DR Bgee; Q14CM0; -.
DR CleanEx; HS_FRMPD4; -.
DR Genevestigator; Q14CM0; -.
DR GO; GO:0005856; C:cytoskeleton; IEA:InterPro.
DR GO; GO:0043197; C:dendritic spine; IDA:UniProtKB.
DR GO; GO:0005546; F:phosphatidylinositol-4,5-bisphosphate binding; IDA:UniProtKB.
DR GO; GO:0051835; P:positive regulation of synapse structural plasticity; IMP:UniProtKB.
DR Gene3D; 1.20.80.10; -; 1.
DR InterPro; IPR019749; Band_41_domain.
DR InterPro; IPR014352; FERM/acyl-CoA-bd_prot_3-hlx.
DR InterPro; IPR019748; FERM_central.
DR InterPro; IPR000299; FERM_domain.
DR InterPro; IPR001478; PDZ.
DR InterPro; IPR001202; WW_dom.
DR Pfam; PF00373; FERM_M; 1.
DR Pfam; PF00595; PDZ; 1.
DR SMART; SM00295; B41; 1.
DR SMART; SM00228; PDZ; 1.
DR SUPFAM; SSF47031; FERM_3-hlx; 1.
DR SUPFAM; SSF50156; PDZ; 1.
DR PROSITE; PS00660; FERM_1; FALSE_NEG.
DR PROSITE; PS00661; FERM_2; FALSE_NEG.
DR PROSITE; PS50057; FERM_3; 1.
DR PROSITE; PS50106; PDZ; 1.
DR PROSITE; PS01159; WW_DOMAIN_1; FALSE_NEG.
DR PROSITE; PS50020; WW_DOMAIN_2; 1.
PE 1: Evidence at protein level;
KW Cell projection; Complete proteome; Lipid-binding; Phosphoprotein;
KW Reference proteome.
FT CHAIN 1 1322 FERM and PDZ domain-containing protein 4.
FT /FTId=PRO_0000307132.
FT DOMAIN 33 66 WW.
FT DOMAIN 78 155 PDZ.
FT DOMAIN 204 519 FERM.
FT MOD_RES 1252 1252 Phosphoserine (By similarity).
FT MUTAGEN 102 102 R->A: Abolishes the interaction with
FT ARHGEF7. Mutant overexpression in
FT cultured neurons does not induce a
FT significant increase in spine density
FT contrary to wild type.
FT MUTAGEN 1319 1322 Missing: Abolishes the interaction with
FT DLG1, DLG2, DLG3 and DLG4/PSD95. Reduces
FT protein localization to dendritic spines.
FT MUTAGEN 1320 1320 T->D: Abolishes the interaction with
FT DLG4/PSD95. Reduces protein localization
FT to dendritic spines.
FT CONFLICT 130 130 A -> T (in Ref. 1; BAA20774).
SQ SEQUENCE 1322 AA; 144379 MW; 79B73E41B89E2D08 CRC64;
MDVFSFVKIA KLSSHRTKSS GWPPPSGTWG LSQVPPYGWE MTANRDGRDY FINHMTQAIP
FDDPRLESCQ IIPPAPRKVE MRRDPVLGFG FVAGSEKPVV VRSVTPGGPS EGKLIPGDQI
VMINDEPVSA APRERVIDLV RSCKESILLT VIQPYPSPKS AFISAAKKAR LKSNPVKVRF
SEEVIINGQV SETVKDNSLL FMPNVLKVYL ENGQTKSFRF DCSTSIKDVI LTLQEKLSIK
GIEHFSLMLE QRTEGAGTKL LLLHEQETLT QVTQRPSSHK MRCLFRISFV PKDPIDLLRR
DPVAFEYLYV QSCNDVVQER FGPELKYDIA LRLAALQMYI ATVTTKQTQK ISLKYIEKEW
GLETFLPSAV LQSMKEKNIK KALSHLVKAN QNLVPPGKKL SALQAKVHYL KFLSDLRLYG
GRVFKATLVQ AEKRSEVTLL VGPRYGISHV INTKTNLVAL LADFSHVNRI EMFSEEESLV
RVELHVLDVK PITLLMESSD AMNLACLTAG YYRLLVDSRR SIFNMANKKN TATQETGPEN
KGKHNLLGPD WNCIPQMTTF IGEGEQEAQI TYIDSKQKTV EITDSTMCPK EHRHLYIDNA
YSSDGLNQQL SQPGEAPCEA DYRSLAQRSL LTLSGPETLK KAQESPRGAK VSFIFGDFAL
DDGISPPTLG YETLLDEGPE MLEKQRNLYI GSANDMKGLD LTPEAEGIQF VENSVYANIG
DVKSFQAAEG IEEPLLHDIC YAENTDDAED EDEVSCEEDL VVGEMNQPAI LNLSGSSDDI
IDLTSLPPPE GDDNEDDFLL RSLNMAIAAP PPGFRDSSDE EDSQSQAASF PEDKEKGSSL
QNDEIPVSLI DAVPTSAEGK CEKGLDNAVV STLGALEALS VSEEQQTSDN SGVAILRAYS
PESSSDSGNE TNSSEMTESS ELATAQKQSE NLSRMFLATH EGYHPLAEEQ TEFPASKTPA
GGLPPKSSHA LAARPATDLP PKVVPSKQLL HSDHMEMEPE TMETKSVTDY FSKLHMGSVA
YSCTSKRKSK LADGEGKAPP NGNTTGKKQQ GTKTAEMEEE ASGKFGTVSS RDSQHLSTFN
LERTAFRKDS QRWYVATEGG MAEKSGLEAA TGKTFPRASG LGAREAEGKE EGAPDGETSD
GSGLGQGDRF LTDVTCASSA KDLDNPEDAD SSTCDHPSKL PEADESVARL CDYHLAKRMS
SLQSEGHFSL QSSQGSSVDA GCGTGSSGSA CATPVESPLC PSLGKHLIPD ASGKGVNYIP
SEERAPGLPN HGATFKELHP QTEGMCPRMT VPALHTAINT EPLFGTLRDG CHRLPKIKET
TV
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