PDZD4_HUMAN
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 03-AUG-2022, entry version 147.
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};
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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; 16.
DR IntAct; Q76G19; 6.
DR MINT; Q76G19; -.
DR STRING; 9606.ENSP00000164640; -.
DR iPTMnet; Q76G19; -.
DR PhosphoSitePlus; Q76G19; -.
DR BioMuta; PDZD4; -.
DR DMDM; 62288846; -.
DR EPD; Q76G19; -.
DR jPOST; Q76G19; -.
DR MassIVE; Q76G19; -.
DR PaxDb; Q76G19; -.
DR PeptideAtlas; Q76G19; -.
DR PRIDE; Q76G19; -.
DR ProteomicsDB; 68669; -. [Q76G19-1]
DR ProteomicsDB; 7201; -.
DR Antibodypedia; 578; 114 antibodies from 18 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 CTD; 57595; -.
DR DisGeNET; 57595; -.
DR GeneCards; PDZD4; -.
DR HGNC; HGNC:21167; PDZD4.
DR HPA; ENSG00000067840; Group enriched (brain, choroid plexus, pituitary gland).
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; 631580at2759; -.
DR PhylomeDB; Q76G19; -.
DR TreeFam; TF315909; -.
DR PathwayCommons; Q76G19; -.
DR SignaLink; Q76G19; -.
DR BioGRID-ORCS; 57595; 16 hits in 689 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 143 other tissues.
DR ExpressionAtlas; Q76G19; baseline and differential.
DR Genevisible; Q76G19; HS.
DR GO; GO:0005938; C:cell cortex; IEA:UniProtKB-SubCell.
DR Gene3D; 2.30.42.10; -; 1.
DR InterPro; IPR001478; PDZ.
DR InterPro; IPR036034; PDZ_sf.
DR Pfam; PF00595; PDZ; 1.
DR SMART; SM00228; PDZ; 1.
DR SUPFAM; SSF50156; SSF50156; 1.
DR PROSITE; PS50106; PDZ; 1.
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
