ID PDZD4_HUMAN Reviewed; 769 AA. AC Q76G19; B3KXB1; B7ZKY3; Q8NB75; Q9BUH9; Q9P284; DT 01-FEB-2005, integrated into UniProtKB/Swiss-Prot. DT 05-JUL-2004, sequence version 1. DT 27-MAR-2024, entry version 156. DE RecName: Full=PDZ domain-containing protein 4; DE AltName: Full=PDZ domain-containing RING finger protein 4-like protein; GN Name=PDZD4; Synonyms=KIAA1444, PDZK4, PDZRN4L; 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), SUBCELLULAR LOCATION, AND TISSUE RP SPECIFICITY. RX PubMed=15077175; DOI=10.1038/sj.onc.1207710; RA Nagayama S., Iiizumi M., Katagiri T., Toguchida J., Nakamura Y.; RT "Identification of PDZK4, a novel human gene with PDZ domains, that is RT upregulated in synovial sarcomas."; RL Oncogene 23:5551-5557(2004). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). RC TISSUE=Brain; 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 [3] 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 [4] 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 [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND NUCLEOTIDE SEQUENCE RP [LARGE SCALE MRNA] OF 535-769 (ISOFORM 1). 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 project: RT the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [6] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 132-547 (ISOFORM 1/2). RC TISSUE=Brain; RX PubMed=10819331; DOI=10.1093/dnares/7.2.143; RA Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.; RT "Prediction of the coding sequences of unidentified human genes. XVII. The RT complete sequences of 100 new cDNA clones from brain which code for large RT proteins in vitro."; RL DNA Res. 7:143-150(2000). RN [7] RP IDENTIFICATION. RX PubMed=15138636; RA Katoh M., Katoh M.; RT "Identification and characterization of human PDZRN4L gene and mouse RT Pdzrn4l gene in silico."; RL Int. J. Mol. Med. 13:923-927(2004). RN [8] RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-236 AND SER-454, AND RP IDENTIFICATION BY 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 [9] RP VARIANT [LARGE SCALE ANALYSIS] CYS-39. RX PubMed=16959974; DOI=10.1126/science.1133427; RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V., RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., RA Velculescu V.E.; RT "The consensus coding sequences of human breast and colorectal cancers."; RL Science 314:268-274(2006). CC -!- SUBCELLULAR LOCATION: Cytoplasm, cell cortex CC {ECO:0000269|PubMed:15077175}. Note=Mainly localized under the plasma CC membrane. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=2; CC Name=1; CC IsoId=Q76G19-1; Sequence=Displayed; CC Name=2; CC IsoId=Q76G19-2; Sequence=VSP_054521; CC -!- TISSUE SPECIFICITY: Brain-specific. Expressed in fetal and adult brain. CC Up-regulated in synovial carcinomas. {ECO:0000269|PubMed:15077175}. CC -!- SEQUENCE CAUTION: CC Sequence=BAC03666.1; Type=Erroneous initiation; 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; AB103478; BAD16631.1; -; mRNA. DR EMBL; AK091444; BAC03666.1; ALT_INIT; mRNA. DR EMBL; AK127016; BAG54423.1; -; mRNA. DR EMBL; U52111; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; CH471172; EAW72805.1; -; Genomic_DNA. DR EMBL; BC002606; AAH02606.2; -; mRNA. DR EMBL; BC080584; AAH80584.1; -; mRNA. DR EMBL; BC143459; AAI43460.1; -; mRNA. DR EMBL; AB040877; BAA95968.1; -; mRNA. DR CCDS; CCDS14732.1; -. [Q76G19-1] DR CCDS; CCDS78517.1; -. [Q76G19-2] DR RefSeq; NP_001290441.1; NM_001303512.1. DR RefSeq; NP_001290442.1; NM_001303513.1. DR RefSeq; NP_001290443.1; NM_001303514.1. [Q76G19-2] DR RefSeq; NP_001290444.1; NM_001303515.1. DR RefSeq; NP_001290445.1; NM_001303516.1. DR RefSeq; NP_115901.2; NM_032512.3. [Q76G19-1] DR AlphaFoldDB; Q76G19; -. DR SMR; Q76G19; -. DR BioGRID; 121646; 18. DR IntAct; Q76G19; 6. DR MINT; Q76G19; -. DR STRING; 9606.ENSP00000377355; -. DR iPTMnet; Q76G19; -. DR PhosphoSitePlus; Q76G19; -. DR BioMuta; PDZD4; -. DR DMDM; 62288846; -. DR EPD; Q76G19; -. DR jPOST; Q76G19; -. DR MassIVE; Q76G19; -. DR PaxDb; 9606-ENSP00000164640; -. DR PeptideAtlas; Q76G19; -. DR ProteomicsDB; 68669; -. [Q76G19-1] DR ProteomicsDB; 7201; -. DR Antibodypedia; 578; 119 antibodies from 19 providers. DR DNASU; 57595; -. DR Ensembl; ENST00000164640.8; ENSP00000164640.4; ENSG00000067840.13. [Q76G19-1] DR Ensembl; ENST00000544474.5; ENSP00000442033.1; ENSG00000067840.13. [Q76G19-2] DR GeneID; 57595; -. DR KEGG; hsa:57595; -. DR UCSC; uc004fiz.2; human. [Q76G19-1] DR AGR; HGNC:21167; -. DR CTD; 57595; -. DR DisGeNET; 57595; -. DR GeneCards; PDZD4; -. DR HGNC; HGNC:21167; PDZD4. DR HPA; ENSG00000067840; Tissue enriched (brain). DR MIM; 300634; gene. DR neXtProt; NX_Q76G19; -. DR OpenTargets; ENSG00000067840; -. DR PharmGKB; PA134896313; -. DR VEuPathDB; HostDB:ENSG00000067840; -. DR eggNOG; KOG0312; Eukaryota. DR GeneTree; ENSGT00950000183062; -. DR HOGENOM; CLU_011096_1_0_1; -. DR InParanoid; Q76G19; -. DR OrthoDB; 2879659at2759; -. DR PhylomeDB; Q76G19; -. DR TreeFam; TF315909; -. DR PathwayCommons; Q76G19; -. DR SignaLink; Q76G19; -. DR BioGRID-ORCS; 57595; 16 hits in 763 CRISPR screens. DR GeneWiki; PDZD4; -. DR GenomeRNAi; 57595; -. DR Pharos; Q76G19; Tbio. DR PRO; PR:Q76G19; -. DR Proteomes; UP000005640; Chromosome X. DR RNAct; Q76G19; Protein. DR Bgee; ENSG00000067840; Expressed in right hemisphere of cerebellum and 144 other cell types or tissues. DR ExpressionAtlas; Q76G19; baseline and differential. DR GO; GO:0005938; C:cell cortex; IEA:UniProtKB-SubCell. DR CDD; cd00992; PDZ_signaling; 1. DR Gene3D; 2.30.42.10; -; 1. DR InterPro; IPR001478; PDZ. DR InterPro; IPR036034; PDZ_sf. DR PANTHER; PTHR15545; PDZ DOMAIN CONTAINING RING FINGER PROTEIN 3, 4; 1. DR PANTHER; PTHR15545:SF4; PDZ DOMAIN-CONTAINING PROTEIN 4; 1. DR Pfam; PF00595; PDZ; 1. DR SMART; SM00228; PDZ; 1. DR SUPFAM; SSF50156; PDZ domain-like; 1. DR PROSITE; PS50106; PDZ; 1. DR Genevisible; Q76G19; HS. PE 1: Evidence at protein level; KW Alternative splicing; Coiled coil; Cytoplasm; Phosphoprotein; KW Reference proteome. FT CHAIN 1..769 FT /note="PDZ domain-containing protein 4" FT /id="PRO_0000055921" FT DOMAIN 130..214 FT /note="PDZ" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00143" FT REGION 221..315 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 445..579 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COILED 389..419 FT /evidence="ECO:0000255" FT COMPBIAS 221..246 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 281..298 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 299..313 FT /note="Polar residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 445..465 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 531..552 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT MOD_RES 236 FT /note="Phosphoserine" FT /evidence="ECO:0007744|PubMed:21406692" FT MOD_RES 454 FT /note="Phosphoserine" FT /evidence="ECO:0007744|PubMed:21406692" FT VAR_SEQ 21..129 FT /note="Missing (in isoform 2)" FT /evidence="ECO:0000303|PubMed:15489334" FT /id="VSP_054521" FT VARIANT 39 FT /note="R -> C (in a breast cancer sample; somatic mutation; FT dbSNP:rs782272149)" FT /evidence="ECO:0000269|PubMed:16959974" FT /id="VAR_035952" FT CONFLICT 374 FT /note="G -> D (in Ref. 2; BAC03666)" FT /evidence="ECO:0000305" SQ SEQUENCE 769 AA; 86171 MW; 9C6788FD289154CD CRC64; MGCNMCVVQK PEEQYKVMLQ VNGKELSKLS QEQTLQALRS SKEPLVIQVL RRSPRLRGDS SCHDLQLVDS GTQTDITFEH IMALGKLRPP TPPMVILEPP PISHEYYDPA EFMEGGPQEA DRLDELEYEE VELYKSSHRD KLGLMVCYRT DDEEDLGIYV GEVNPNSIAA KDGRIREGDR IIQINGVDVQ NREEAVAILS QEENTNISLL VARPESQLAK RWKDSDRDDF LDDFGSENEG ELRARKLKSP PAQQPGNEEE KGAPDAGPGL SNSQELDSGV GRTDESTRNE ESSEHDLLGD EPPSSTNTPG SLRKFGLQGD ALQSRDFHFS MDSLLAEGAG LGGGDVPGLT DEEYERYREL LEIKCHLENG NQLGLLFPRA SGGNSALDVN RNESLGHEMA MLEEELRHLE FKCRNILRAQ KMQQLRERCM KAWLLEEESL YDLAASEPKK HELSDISELP EKSDKDSTSA YNTGESCRST PLLVEPLPES PLRRAMAGNS NLNRTPPGPA VATPAKAAPP PGSPAKFRSL SRDPEAGRRQ HAEERGRRNP KTGLTLERVG PESSPYLSRR HRGQGQEGEH YHSCVQLAPT RGLEELGHGP LSLAGGPRVG GVAAAATEAP RMEWKVKVRS DGTRYVAKRP VRDRLLKARA LKIREERSGM TTDDDAVSEM KMGRYWSKEE RKQHLIRARE QRKRREFMMQ SRLECLREQQ NGDSKPELNI IALSHRKTMK KRNKKILDNW ITIQEMLAHG ARSADGKRVY NPLLSVTTV //