PZRN4_HUMAN
ID PZRN4_HUMAN Reviewed; 1036 AA.
AC Q6ZMN7; Q52LY3; Q52LY4; Q6N052; Q8IUU1; Q9NTP7;
DT 01-FEB-2005, integrated into UniProtKB/Swiss-Prot.
DT 17-OCT-2006, sequence version 3.
DT 03-AUG-2022, entry version 159.
DE RecName: Full=PDZ domain-containing RING finger protein 4;
DE AltName: Full=Ligand of Numb protein X 4;
DE AltName: Full=SEMACAP3-like protein;
GN Name=PDZRN4; Synonyms=LNX4, SEMCAP3L;
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=16541075; DOI=10.1038/nature04569;
RA Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y.,
RA Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C.,
RA Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C.,
RA Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R.,
RA Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E.,
RA Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y.,
RA Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G.,
RA Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H.,
RA Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S.,
RA Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M.,
RA Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H.,
RA Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q.,
RA Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V.,
RA Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E.,
RA Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K.,
RA Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D.,
RA Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R.,
RA David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E.,
RA D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N.,
RA Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N.,
RA Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R.,
RA Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S.,
RA LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H.,
RA Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P.,
RA Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G.,
RA Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E.,
RA Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S.,
RA Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O.,
RA Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J.,
RA Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A.,
RA Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M.,
RA Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I.,
RA Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A.,
RA Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y.,
RA Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A.,
RA Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F.,
RA Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L.,
RA Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G.,
RA Gibbs R.A.;
RT "The finished DNA sequence of human chromosome 12.";
RL Nature 440:346-351(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
RC TISSUE=Mammary gland;
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 MRNA] (ISOFORM 2), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 450-1036 (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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 368-1036.
RC TISSUE=Liver;
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 884-1036.
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [6]
RP IDENTIFICATION, AND ALTERNATIVE SPLICING (ISOFORMS 1 AND 2).
RX PubMed=15010864;
RA Katoh M., Katoh M.;
RT "Identification and characterization of PDZRN3 and PDZRN4 genes in
RT silico.";
RL Int. J. Mol. Med. 13:607-613(2004).
RN [7]
RP VARIANT [LARGE SCALE ANALYSIS] ARG-784.
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 -!- INTERACTION:
CC Q6ZMN7-2; Q13148: TARDBP; NbExp=3; IntAct=EBI-25984441, EBI-372899;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q6ZMN7-1; Sequence=Displayed;
CC Name=2; Synonyms=PDZRN4S;
CC IsoId=Q6ZMN7-2; Sequence=VSP_012611, VSP_012612;
CC Name=4;
CC IsoId=Q6ZMN7-4; Sequence=VSP_012614, VSP_012615;
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DR EMBL; AC090531; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC021651; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AK131554; BAD18688.1; -; mRNA.
DR EMBL; BC040922; AAH40922.1; -; mRNA.
DR EMBL; BC093744; AAH93744.1; -; mRNA.
DR EMBL; BC093746; AAH93746.2; -; mRNA.
DR EMBL; BX640695; CAE45818.2; -; mRNA.
DR EMBL; AL133067; CAB61390.3; -; mRNA.
DR CCDS; CCDS53777.1; -. [Q6ZMN7-1]
DR CCDS; CCDS8739.1; -. [Q6ZMN7-2]
DR PIR; T42667; T42667.
DR RefSeq; NP_001158067.1; NM_001164595.1. [Q6ZMN7-1]
DR RefSeq; NP_037509.3; NM_013377.3. [Q6ZMN7-2]
DR AlphaFoldDB; Q6ZMN7; -.
DR BioGRID; 118988; 6.
DR IntAct; Q6ZMN7; 3.
DR STRING; 9606.ENSP00000384197; -.
DR iPTMnet; Q6ZMN7; -.
DR PhosphoSitePlus; Q6ZMN7; -.
DR BioMuta; PDZRN4; -.
DR DMDM; 116242741; -.
DR jPOST; Q6ZMN7; -.
DR MassIVE; Q6ZMN7; -.
DR PaxDb; Q6ZMN7; -.
DR PeptideAtlas; Q6ZMN7; -.
DR PRIDE; Q6ZMN7; -.
DR ProteomicsDB; 67892; -. [Q6ZMN7-1]
DR ProteomicsDB; 67893; -. [Q6ZMN7-2]
DR ProteomicsDB; 67894; -. [Q6ZMN7-4]
DR Antibodypedia; 25032; 50 antibodies from 14 providers.
DR DNASU; 29951; -.
DR Ensembl; ENST00000298919.7; ENSP00000298919.7; ENSG00000165966.16. [Q6ZMN7-4]
DR Ensembl; ENST00000402685.7; ENSP00000384197.2; ENSG00000165966.16. [Q6ZMN7-1]
DR Ensembl; ENST00000539469.6; ENSP00000439990.2; ENSG00000165966.16. [Q6ZMN7-2]
DR GeneID; 29951; -.
DR KEGG; hsa:29951; -.
DR MANE-Select; ENST00000402685.7; ENSP00000384197.2; NM_001164595.2; NP_001158067.1.
DR UCSC; uc001rmq.5; human. [Q6ZMN7-1]
DR CTD; 29951; -.
DR DisGeNET; 29951; -.
DR GeneCards; PDZRN4; -.
DR HGNC; HGNC:30552; PDZRN4.
DR HPA; ENSG00000165966; Tissue enhanced (seminal).
DR MIM; 609730; gene.
DR neXtProt; NX_Q6ZMN7; -.
DR OpenTargets; ENSG00000165966; -.
DR PharmGKB; PA134974780; -.
DR VEuPathDB; HostDB:ENSG00000165966; -.
DR eggNOG; KOG0297; Eukaryota.
DR eggNOG; KOG0312; Eukaryota.
DR GeneTree; ENSGT00950000183062; -.
DR HOGENOM; CLU_011096_0_0_1; -.
DR InParanoid; Q6ZMN7; -.
DR OMA; TMEQDYY; -.
DR OrthoDB; 631580at2759; -.
DR PhylomeDB; Q6ZMN7; -.
DR TreeFam; TF315909; -.
DR PathwayCommons; Q6ZMN7; -.
DR SignaLink; Q6ZMN7; -.
DR BioGRID-ORCS; 29951; 5 hits in 1108 CRISPR screens.
DR ChiTaRS; PDZRN4; human.
DR GenomeRNAi; 29951; -.
DR Pharos; Q6ZMN7; Tdark.
DR PRO; PR:Q6ZMN7; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q6ZMN7; protein.
DR Bgee; ENSG00000165966; Expressed in cauda epididymis and 145 other tissues.
DR ExpressionAtlas; Q6ZMN7; baseline and differential.
DR Genevisible; Q6ZMN7; HS.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR Gene3D; 2.30.42.10; -; 2.
DR Gene3D; 3.30.40.10; -; 1.
DR InterPro; IPR001478; PDZ.
DR InterPro; IPR036034; PDZ_sf.
DR InterPro; IPR001841; Znf_RING.
DR InterPro; IPR013083; Znf_RING/FYVE/PHD.
DR InterPro; IPR017907; Znf_RING_CS.
DR Pfam; PF00595; PDZ; 2.
DR SMART; SM00228; PDZ; 2.
DR SMART; SM00184; RING; 1.
DR SUPFAM; SSF50156; SSF50156; 2.
DR PROSITE; PS50106; PDZ; 2.
DR PROSITE; PS00518; ZF_RING_1; 1.
DR PROSITE; PS50089; ZF_RING_2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Metal-binding; Reference proteome;
KW Repeat; Zinc; Zinc-finger.
FT CHAIN 1..1036
FT /note="PDZ domain-containing RING finger protein 4"
FT /id="PRO_0000055920"
FT DOMAIN 224..314
FT /note="PDZ 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00143"
FT DOMAIN 402..486
FT /note="PDZ 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00143"
FT ZN_FING 18..56
FT /note="RING-type; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00175"
FT REGION 129..161
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 515..590
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 726..819
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 655..689
FT /evidence="ECO:0000255"
FT COMPBIAS 552..570
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 573..590
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 737..800
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 801..819
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..260
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_012614"
FT VAR_SEQ 1..258
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_012611"
FT VAR_SEQ 259..281
FT /note="SKILENGPADRADGLEIHDKIME -> MGCNLCTFQKREEHYKLLYEVSQ
FT (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_012612"
FT VAR_SEQ 261..281
FT /note="ILENGPADRADGLEIHDKIME -> MSGKRQFFLKPLALLTCWPST (in
FT isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_012615"
FT VARIANT 429
FT /note="G -> S (in dbSNP:rs285584)"
FT /id="VAR_020966"
FT VARIANT 784
FT /note="G -> R (in a colorectal cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035951"
FT CONFLICT 650
FT /note="S -> G (in Ref. 1 and 2; BAD18688)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1036 AA; 117103 MW; 26A43A0789CEA6B2 CRC64;
MGFALERFAE AVDPALECKL CGQVLEEPLC TPCGHVFCAS CLLPWAVRRR RCPLQCQPLA
PGELYRVLPL RSLIQKLRVQ CDYRARGCGH SVRLHELEAH VEHCDFGPAR RLRSRGGCAS
GLGGGEVPAR GGCGPTPRAG RGGGARGGPP GGRWGRGRGP GPRVLAWRRR EKALLAQLWA
LQGEVQLTAR RYQEKFTQYM AHVRNFVGDL GGGHRRDGEH KPFTIVLERE NDTLGFNIIG
GRPNQNNQEG TSTEGIYVSK ILENGPADRA DGLEIHDKIM EVNGKDLSKA THEEAVEAFR
NAKEPIVVQV LRRTPLSRPA YGMASEVQLM NASTQTDITF EHIMALAKLR PPTPPVPDIC
PFLLSDSCHS LHPMEHEFYE DNEYISSLPA DADRTEDFEY EEVELCRVSS QEKLGLTVCY
RTDDEEDTGI YVSEVDPNSI AAKDGRIREG DRILQINGED VQNREEAVAL LSNDECKRIV
LLVARPEIQL DEGWLEDERN EFLEELNLEM LEEEHNEAMQ PTANEVEQPK KQEEEEGTTD
TATSSSNNHE KDSGVGRTDE SLRNDESSEQ ENAAEDPNST SLKSKRDLGQ SQDTLGSVEL
QYNESLVSGE YIDSDCIGNP DEDCERFRQL LELKCKIRNH GEYDLYYSSS TIECNQGEQE
GVEHELQLLN EELRNIELEC QNIMQAHRLQ KVTDQYGDIW TLHDGGFRNY NTSIDMQRGK
LDDIMEHPEK SDKDSSSAYN TAESCRSTPL TVDRSPDSSL PRVINLTNKK NLRSTMAATQ
SSSGQSSKES TSTKAKTTEQ GCSAESKEKV LEGSKLPDQE KAVSEHIPYL SPYHSSSYRY
ANIPAHARHY QSYMQLIQQK SAVEYAQSQL SLVSMCKESQ KCSEPKMEWK VKIRSDGTRY
ITKRPVRDRI LKERALKIKE ERSGMTTDDD TMSEMKMGRY WSKEERKQHL VRAKEQRRRR
EFMMRSRLEC LKESPQSGSE GKKEINIIEL SHKKMMKKRN KKILDNWMTI QELMTHGAKS
PDGTRVHNAF LSVTTV
