LONF2_HUMAN
ID LONF2_HUMAN Reviewed; 754 AA.
AC Q1L5Z9; B9A006; Q6ZSR4;
DT 20-FEB-2007, integrated into UniProtKB/Swiss-Prot.
DT 30-NOV-2010, sequence version 3.
DT 03-AUG-2022, entry version 133.
DE RecName: Full=LON peptidase N-terminal domain and RING finger protein 2;
DE AltName: Full=Neuroblastoma apoptosis-related protease;
DE AltName: Full=RING finger protein 192;
GN Name=LONRF2; Synonyms=RNF192;
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), AND VARIANT PRO-426.
RA Choi D.K.;
RT "Differential screening of novel gene in apoptotic neuronal cells and its
RT functional study during embryonic development.";
RL Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT PRO-426.
RC TISSUE=Hippocampus;
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=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT PRO-426.
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 [5]
RP VARIANT [LARGE SCALE ANALYSIS] TRP-562.
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 Q1L5Z9; P55212: CASP6; NbExp=3; IntAct=EBI-2510853, EBI-718729;
CC Q1L5Z9; P48643: CCT5; NbExp=3; IntAct=EBI-2510853, EBI-355710;
CC Q1L5Z9; P99999: CYCS; NbExp=3; IntAct=EBI-2510853, EBI-446479;
CC Q1L5Z9; G5E9A7: DMWD; NbExp=3; IntAct=EBI-2510853, EBI-10976677;
CC Q1L5Z9; P22607: FGFR3; NbExp=3; IntAct=EBI-2510853, EBI-348399;
CC Q1L5Z9; P14136: GFAP; NbExp=3; IntAct=EBI-2510853, EBI-744302;
CC Q1L5Z9; Q14957: GRIN2C; NbExp=3; IntAct=EBI-2510853, EBI-8285963;
CC Q1L5Z9; P06396: GSN; NbExp=3; IntAct=EBI-2510853, EBI-351506;
CC Q1L5Z9; O43464: HTRA2; NbExp=3; IntAct=EBI-2510853, EBI-517086;
CC Q1L5Z9; P42858: HTT; NbExp=3; IntAct=EBI-2510853, EBI-466029;
CC Q1L5Z9; Q8WXH2: JPH3; NbExp=3; IntAct=EBI-2510853, EBI-1055254;
CC Q1L5Z9; P13473-2: LAMP2; NbExp=3; IntAct=EBI-2510853, EBI-21591415;
CC Q1L5Z9; D3DTS7: PMP22; NbExp=3; IntAct=EBI-2510853, EBI-25882629;
CC Q1L5Z9; O75400-2: PRPF40A; NbExp=3; IntAct=EBI-2510853, EBI-5280197;
CC Q1L5Z9; Q7Z699: SPRED1; NbExp=3; IntAct=EBI-2510853, EBI-5235340;
CC Q1L5Z9; Q13148: TARDBP; NbExp=3; IntAct=EBI-2510853, EBI-372899;
CC Q1L5Z9; Q86WV8: TSC1; NbExp=3; IntAct=EBI-2510853, EBI-12806590;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q1L5Z9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q1L5Z9-2; Sequence=VSP_023079;
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DR EMBL; DQ020495; AAY84832.1; -; mRNA.
DR EMBL; AK127206; BAC86883.1; -; mRNA.
DR EMBL; AC104782; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC012493; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC101664; AAI01665.1; -; mRNA.
DR EMBL; BC101662; AAI01663.1; -; mRNA.
DR CCDS; CCDS2046.2; -. [Q1L5Z9-1]
DR RefSeq; NP_940863.3; NM_198461.3. [Q1L5Z9-1]
DR AlphaFoldDB; Q1L5Z9; -.
DR SMR; Q1L5Z9; -.
DR BioGRID; 127903; 20.
DR IntAct; Q1L5Z9; 28.
DR STRING; 9606.ENSP00000377086; -.
DR iPTMnet; Q1L5Z9; -.
DR PhosphoSitePlus; Q1L5Z9; -.
DR BioMuta; LONRF2; -.
DR DMDM; 313104224; -.
DR MassIVE; Q1L5Z9; -.
DR MaxQB; Q1L5Z9; -.
DR PaxDb; Q1L5Z9; -.
DR PeptideAtlas; Q1L5Z9; -.
DR PRIDE; Q1L5Z9; -.
DR ProteomicsDB; 61220; -. [Q1L5Z9-1]
DR ProteomicsDB; 61221; -. [Q1L5Z9-2]
DR Antibodypedia; 32852; 91 antibodies from 18 providers.
DR DNASU; 164832; -.
DR Ensembl; ENST00000393437.8; ENSP00000377086.3; ENSG00000170500.13. [Q1L5Z9-1]
DR Ensembl; ENST00000409647.1; ENSP00000386823.1; ENSG00000170500.13. [Q1L5Z9-2]
DR GeneID; 164832; -.
DR KEGG; hsa:164832; -.
DR MANE-Select; ENST00000393437.8; ENSP00000377086.3; NM_198461.4; NP_940863.3.
DR UCSC; uc002tal.4; human. [Q1L5Z9-1]
DR CTD; 164832; -.
DR DisGeNET; 164832; -.
DR GeneCards; LONRF2; -.
DR HGNC; HGNC:24788; LONRF2.
DR HPA; ENSG00000170500; Tissue enhanced (brain, fallopian tube).
DR neXtProt; NX_Q1L5Z9; -.
DR OpenTargets; ENSG00000170500; -.
DR PharmGKB; PA142671540; -.
DR VEuPathDB; HostDB:ENSG00000170500; -.
DR eggNOG; KOG0508; Eukaryota.
DR eggNOG; KOG1124; Eukaryota.
DR eggNOG; KOG4159; Eukaryota.
DR GeneTree; ENSGT00440000033329; -.
DR HOGENOM; CLU_013989_1_2_1; -.
DR InParanoid; Q1L5Z9; -.
DR OMA; DVFRNTN; -.
DR OrthoDB; 458276at2759; -.
DR PhylomeDB; Q1L5Z9; -.
DR TreeFam; TF327043; -.
DR PathwayCommons; Q1L5Z9; -.
DR SignaLink; Q1L5Z9; -.
DR BioGRID-ORCS; 164832; 15 hits in 1113 CRISPR screens.
DR ChiTaRS; LONRF2; human.
DR GenomeRNAi; 164832; -.
DR Pharos; Q1L5Z9; Tdark.
DR PRO; PR:Q1L5Z9; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q1L5Z9; protein.
DR Bgee; ENSG00000170500; Expressed in corpus epididymis and 167 other tissues.
DR Genevisible; Q1L5Z9; HS.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProt.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0061630; F:ubiquitin protein ligase activity; IBA:GO_Central.
DR Gene3D; 1.25.40.10; -; 2.
DR Gene3D; 2.30.130.40; -; 1.
DR Gene3D; 3.30.40.10; -; 2.
DR InterPro; IPR003111; Lon_prtase_N.
DR InterPro; IPR046336; Lon_prtase_N_sf.
DR InterPro; IPR015947; PUA-like_sf.
DR InterPro; IPR011990; TPR-like_helical_dom_sf.
DR InterPro; IPR019734; TPR_repeat.
DR InterPro; IPR027370; Znf-RING_LisH.
DR InterPro; IPR001841; Znf_RING.
DR InterPro; IPR013083; Znf_RING/FYVE/PHD.
DR InterPro; IPR017907; Znf_RING_CS.
DR Pfam; PF02190; LON_substr_bdg; 1.
DR Pfam; PF13445; zf-RING_UBOX; 1.
DR SMART; SM00464; LON; 1.
DR SMART; SM00184; RING; 2.
DR SMART; SM00028; TPR; 3.
DR SUPFAM; SSF48452; SSF48452; 1.
DR SUPFAM; SSF88697; SSF88697; 1.
DR PROSITE; PS51787; LON_N; 1.
DR PROSITE; PS50293; TPR_REGION; 1.
DR PROSITE; PS00518; ZF_RING_1; 1.
DR PROSITE; PS50089; ZF_RING_2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Metal-binding; Reference proteome; Repeat;
KW TPR repeat; Zinc; Zinc-finger.
FT CHAIN 1..754
FT /note="LON peptidase N-terminal domain and RING finger
FT protein 2"
FT /id="PRO_0000277670"
FT REPEAT 23..58
FT /note="TPR 1"
FT REPEAT 59..91
FT /note="TPR 2"
FT REPEAT 197..230
FT /note="TPR 3"
FT REPEAT 231..264
FT /note="TPR 4"
FT REPEAT 266..298
FT /note="TPR 5"
FT REPEAT 447..483
FT /note="TPR 6"
FT DOMAIN 535..735
FT /note="Lon N-terminal"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01123"
FT ZN_FING 449..487
FT /note="RING-type"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00175"
FT REGION 112..136
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 398..439
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 402..416
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 425..439
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..243
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_023079"
FT VARIANT 183
FT /note="L -> P (in dbSNP:rs4851287)"
FT /id="VAR_030590"
FT VARIANT 426
FT /note="L -> P (in dbSNP:rs4851287)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1"
FT /id="VAR_054639"
FT VARIANT 562
FT /note="R -> W (in a colorectal cancer sample; somatic
FT mutation; dbSNP:rs773205136)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035953"
FT CONFLICT 648
FT /note="E -> Q (in Ref. 1; AAY84832)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 754 AA; 83654 MW; 688EE74DCF7893D3 CRC64;
MSPEPVPPPP PPQCPGCDRA EPIAQRLEEG DEAFRAGDYE MAAELFRSML AGLAQPDRGL
CLRLGDALAR AGRLPEALGA FRGAARLGAL RPEELEELAG GLVRAVGLRD RPLSAENPGG
EPEAPGEGGP APEPRAPRDL LGCPRCRRLL HKPVTLPCGL TVCKRCVEPG PARPQVRRVN
VVLSGLLEKC FPAECRLRRL AGQARSLQRQ QQPEAALLRC DQALELAPDD NSLLLLRAEL
YLTMKNYEQA LQDASAACQN EPLLIKGHQV KAQALSGLGR SKEVLKEFLY CLALNPECNS
VKKEAQKVMC EVLFSATANV HENLTSSIQS RLKAQGHSHM NAQALLEEGD AGSSENSSEK
SDMLGNTNSS VLYFILGLHF EEDKKALESI LPTAPSAGLK RQFPDDVEDA PDLNAPGKIP
KKDLSLQRSP NSETEESQGL SLDVTDFECA LCMRLLFEPV TTPCGHTFCL KCLERCLDHA
PHCPLCKDKL SELLASRNFN ITVLAEELIF RYLPDELSDR KRIYDEEMSE LSNLTRDVPI
FVCAMAFPTV PCPLHVFEPR YRLMIRRCME TGTKRFGMCL SAEHAGLSEY GCMLEIKDVR
TFPDGSSVVD AIGISRFRVL SHRHRDGYNT ADIEYLEDEK VEGPEYEELA ALHDSVHQQS
VSWFASLQDR MKEQILSHFG VMPDREPEPQ SNPSGPAWSW WILAVLPLER KAQLAILGMT
SLKERLLAIR RILVIITRKM NSRQELANAR ERNN
