LONF3_HUMAN
ID LONF3_HUMAN Reviewed; 759 AA.
AC Q496Y0; Q5JPN6; Q8NB00; Q9H647;
DT 20-FEB-2007, integrated into UniProtKB/Swiss-Prot.
DT 13-SEP-2005, sequence version 1.
DT 03-AUG-2022, entry version 149.
DE RecName: Full=LON peptidase N-terminal domain and RING finger protein 3;
DE AltName: Full=RING finger protein 127;
GN Name=LONRF3; Synonyms=RNF127;
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 MRNA] (ISOFORM 3), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 195-759 (ISOFORM 2).
RC TISSUE=Intestine, and Lung;
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 [2]
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
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 VARIANT [LARGE SCALE ANALYSIS] GLY-122.
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 Q496Y0; Q92624: APPBP2; NbExp=3; IntAct=EBI-2690768, EBI-743771;
CC Q496Y0; P78358: CTAG1B; NbExp=3; IntAct=EBI-2690768, EBI-1188472;
CC Q496Y0; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-2690768, EBI-3867333;
CC Q496Y0; P17661: DES; NbExp=3; IntAct=EBI-2690768, EBI-1055572;
CC Q496Y0; Q7Z3S9: NOTCH2NLA; NbExp=3; IntAct=EBI-2690768, EBI-945833;
CC Q496Y0; P35232: PHB; NbExp=2; IntAct=EBI-2690768, EBI-354213;
CC Q496Y0; Q12933: TRAF2; NbExp=3; IntAct=EBI-2690768, EBI-355744;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q496Y0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q496Y0-2; Sequence=VSP_023080;
CC Name=3;
CC IsoId=Q496Y0-3; Sequence=VSP_023081, VSP_023082;
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB15419.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AK026265; BAB15419.1; ALT_INIT; mRNA.
DR EMBL; AK091777; BAC03744.1; -; mRNA.
DR EMBL; AL772284; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC099847; AAH99847.1; -; mRNA.
DR EMBL; BC100671; AAI00672.1; -; mRNA.
DR EMBL; BC103491; AAI03492.1; -; mRNA.
DR CCDS; CCDS14575.1; -. [Q496Y0-2]
DR CCDS; CCDS35374.1; -. [Q496Y0-1]
DR RefSeq; NP_001027026.1; NM_001031855.2. [Q496Y0-1]
DR RefSeq; NP_079054.3; NM_024778.5. [Q496Y0-2]
DR AlphaFoldDB; Q496Y0; -.
DR SMR; Q496Y0; -.
DR BioGRID; 122927; 17.
DR IntAct; Q496Y0; 13.
DR STRING; 9606.ENSP00000360690; -.
DR iPTMnet; Q496Y0; -.
DR PhosphoSitePlus; Q496Y0; -.
DR BioMuta; LONRF3; -.
DR DMDM; 121949074; -.
DR EPD; Q496Y0; -.
DR jPOST; Q496Y0; -.
DR MassIVE; Q496Y0; -.
DR MaxQB; Q496Y0; -.
DR PaxDb; Q496Y0; -.
DR PeptideAtlas; Q496Y0; -.
DR PRIDE; Q496Y0; -.
DR ProteomicsDB; 62000; -. [Q496Y0-1]
DR ProteomicsDB; 62001; -. [Q496Y0-2]
DR ProteomicsDB; 62002; -. [Q496Y0-3]
DR Antibodypedia; 29740; 139 antibodies from 22 providers.
DR DNASU; 79836; -.
DR Ensembl; ENST00000304778.11; ENSP00000307732.7; ENSG00000175556.17. [Q496Y0-2]
DR Ensembl; ENST00000371628.8; ENSP00000360690.3; ENSG00000175556.17. [Q496Y0-1]
DR Ensembl; ENST00000481285.5; ENSP00000435426.1; ENSG00000175556.17. [Q496Y0-3]
DR GeneID; 79836; -.
DR KEGG; hsa:79836; -.
DR MANE-Select; ENST00000371628.8; ENSP00000360690.3; NM_001031855.3; NP_001027026.1.
DR UCSC; uc004eqw.5; human. [Q496Y0-1]
DR CTD; 79836; -.
DR DisGeNET; 79836; -.
DR GeneCards; LONRF3; -.
DR HGNC; HGNC:21152; LONRF3.
DR HPA; ENSG00000175556; Low tissue specificity.
DR neXtProt; NX_Q496Y0; -.
DR OpenTargets; ENSG00000175556; -.
DR PharmGKB; PA134900980; -.
DR VEuPathDB; HostDB:ENSG00000175556; -.
DR eggNOG; KOG1124; Eukaryota.
DR eggNOG; KOG4159; Eukaryota.
DR GeneTree; ENSGT00440000033329; -.
DR InParanoid; Q496Y0; -.
DR OMA; RLMPHWS; -.
DR OrthoDB; 458276at2759; -.
DR PhylomeDB; Q496Y0; -.
DR TreeFam; TF327043; -.
DR PathwayCommons; Q496Y0; -.
DR SignaLink; Q496Y0; -.
DR BioGRID-ORCS; 79836; 14 hits in 741 CRISPR screens.
DR GenomeRNAi; 79836; -.
DR Pharos; Q496Y0; Tdark.
DR PRO; PR:Q496Y0; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q496Y0; protein.
DR Bgee; ENSG00000175556; Expressed in gastrocnemius and 107 other tissues.
DR ExpressionAtlas; Q496Y0; baseline and differential.
DR Genevisible; Q496Y0; 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; -; 1.
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; 4.
DR SUPFAM; SSF48452; SSF48452; 1.
DR SUPFAM; SSF88697; SSF88697; 1.
DR PROSITE; PS51787; LON_N; 1.
DR PROSITE; PS50005; TPR; 3.
DR PROSITE; PS50293; TPR_REGION; 1.
DR PROSITE; PS00518; ZF_RING_1; 2.
DR PROSITE; PS50089; ZF_RING_2; 2.
PE 1: Evidence at protein level;
KW Alternative splicing; Metal-binding; Reference proteome; Repeat;
KW TPR repeat; Zinc; Zinc-finger.
FT CHAIN 1..759
FT /note="LON peptidase N-terminal domain and RING finger
FT protein 3"
FT /id="PRO_0000277671"
FT REPEAT 67..100
FT /note="TPR 1"
FT REPEAT 243..276
FT /note="TPR 2"
FT REPEAT 278..310
FT /note="TPR 3"
FT REPEAT 312..344
FT /note="TPR 4"
FT DOMAIN 553..753
FT /note="Lon N-terminal"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01123"
FT ZN_FING 158..196
FT /note="RING-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00175"
FT ZN_FING 467..505
FT /note="RING-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00175"
FT REGION 1..69
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 360..454
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 55..69
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 383..405
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 313..353
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_023080"
FT VAR_SEQ 605..610
FT /note="FAEYGC -> HCLLCN (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_023081"
FT VAR_SEQ 611..759
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_023082"
FT VARIANT 122
FT /note="A -> G (in a breast cancer sample; somatic mutation;
FT dbSNP:rs61730253)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035954"
SQ SEQUENCE 759 AA; 84490 MW; 364C5624DF440296 CRC64;
MESVRIEQML SLPAEVSSDN LESAERGASA AQVDMGPHPK VAAEGPAPLP TREPEQEQSP
GTSTPESKVL LTQADALASR GRIREALEVY RQLSERQQLV AEQLEQLVRC LAEKVPQGEA
LAPAPPDEGS TASGTVAAEE TGAAAAAAAT EVWDGFKCRK CHGFLSDPVS LSCGHTFCKL
CLERGRAADR RCALCGVKLS ALMVATGRAR GARRAGQQPP PPLRVNVVLS GLLGKLFPGP
ARASQLRHEG NRLYRERQVE AALLKYNEAV KLAPNDHLLY SNRSQIYFTL ESHENALHDA
EIACKLRPMG FKAHFRKAQA LATLGKVEEA LREFLYCVSL DGKNKRARCE AQRDNLELPH
CSSQEEAAAR GDGSSLMDPA KVKGDGQQHH MKDQEEEEEK WDATSPKAAS SKTGKCQEKK
RKHCQIESQE ETGMPNKASK QDPPTDQGDK PALSLPLASF DASDLECALC MRLFYEPVTT
PCGHTFCLKC LERCLDHNAK CPLCKDGLSQ CLASRKYSKN VIMEELIAKF LPEELKERRK
LYEEEMEELS NLNKNVPIFV CTMAYPTVPC PLHIFEPCYR LMIRRCIETG TRQFGMCLGD
PVKGFAEYGC ILEIRNVQFF ADGRSVVDSI GKRRFRVLHQ SQRDGYNTAD IEYIEDQKVQ
GEDCAELMGL HNCVYQQASL WFHSLKLSLK NRILNHFGPM PEKDADPQMN PNGPAWCWWM
LAVLPLESRA QLPFLAMRSL KDRLNGIRRV LAFISRNQN
