RFPL2_HUMAN
ID RFPL2_HUMAN Reviewed; 378 AA.
AC O75678;
DT 26-SEP-2001, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2005, sequence version 3.
DT 03-AUG-2022, entry version 186.
DE RecName: Full=Ret finger protein-like 2;
DE AltName: Full=RING finger protein 79;
GN Name=RFPL2; Synonyms=RNF79;
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 3), AND VARIANTS TYR-141; SER-290;
RP GLY-324; CYS-341 AND ILE-348.
RX PubMed=10508838; DOI=10.1101/gr.9.9.803;
RA Seroussi E., Kedra D., Pan H.-Q., Peyrad M., Schwartz C., Scambler P.,
RA Donnai D., Roe B.A., Dumanski J.P.;
RT "Duplications on human chromosome 22 reveal a novel Ret finger protein-like
RT gene family with sense and endogenous antisense transcripts.";
RL Genome Res. 9:803-814(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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 VARIANTS TYR-141;
RP SER-290; GLY-324; CYS-341 AND ILE-348.
RX PubMed=15461802; DOI=10.1186/gb-2004-5-10-r84;
RA Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A.,
RA Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J.,
RA Beare D.M., Dunham I.;
RT "A genome annotation-driven approach to cloning the human ORFeome.";
RL Genome Biol. 5:R84.1-R84.11(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=10591208; DOI=10.1038/990031;
RA Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M.,
RA Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C.,
RA Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E.,
RA Bridgeman A.M., Buck D., Burgess J., Burrill W.D., Burton J., Carder C.,
RA Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G.,
RA Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V.,
RA Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M.,
RA Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A.,
RA Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C.,
RA Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E.,
RA Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F.,
RA Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M.,
RA Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A.,
RA Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D.,
RA Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y.,
RA Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S.,
RA Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E.,
RA Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L.,
RA Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L.,
RA Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N.,
RA Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A.,
RA Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L.,
RA Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P.,
RA Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P.,
RA Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q.,
RA Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J.,
RA Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J.,
RA Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D.,
RA Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T.,
RA Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P.,
RA Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K.,
RA Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R.,
RA Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L.,
RA McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J.,
RA Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E.,
RA Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P.,
RA Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y.,
RA Wright H.;
RT "The DNA sequence of human chromosome 22.";
RL Nature 402:489-495(1999).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
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).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=O75678-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O75678-2; Sequence=VSP_059822, VSP_059823;
CC Name=3;
CC IsoId=O75678-3; Sequence=VSP_038326, VSP_038327;
CC -!- TISSUE SPECIFICITY: Seems to be expressed in prostate and less
CC abundantly in adult brain, fetal liver, and fetal kidney.
CC -!- MISCELLANEOUS: [Isoform 2]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC -!- MISCELLANEOUS: [Isoform 3]: May be due to intron retention.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH51910.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};
CC Sequence=CAA09045.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=CAG30449.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};
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DR EMBL; AJ010231; CAA09045.1; ALT_INIT; mRNA.
DR EMBL; AK055999; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; CR456563; CAG30449.1; ALT_SEQ; mRNA.
DR EMBL; AL008723; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC051910; AAH51910.1; ALT_SEQ; mRNA.
DR EMBL; BC069827; AAH69827.2; -; mRNA.
DR CCDS; CCDS43009.2; -. [O75678-1]
DR RefSeq; NP_001091997.2; NM_001098527.2. [O75678-1]
DR RefSeq; NP_001153017.1; NM_001159545.1.
DR RefSeq; NP_001153018.1; NM_001159546.1.
DR RefSeq; NP_006596.2; NM_006605.3.
DR RefSeq; XP_011528134.1; XM_011529832.1. [O75678-1]
DR RefSeq; XP_016884024.1; XM_017028535.1.
DR RefSeq; XP_016884025.1; XM_017028536.1.
DR AlphaFoldDB; O75678; -.
DR SMR; O75678; -.
DR BioGRID; 115962; 21.
DR IntAct; O75678; 11.
DR STRING; 9606.ENSP00000383096; -.
DR BioMuta; RFPL2; -.
DR jPOST; O75678; -.
DR MassIVE; O75678; -.
DR PaxDb; O75678; -.
DR PRIDE; O75678; -.
DR Antibodypedia; 25209; 117 antibodies from 26 providers.
DR DNASU; 10739; -.
DR Ensembl; ENST00000248983.8; ENSP00000248983.5; ENSG00000128253.16. [O75678-1]
DR Ensembl; ENST00000400237.2; ENSP00000383096.1; ENSG00000128253.16. [O75678-1]
DR Ensembl; ENST00000626996.2; ENSP00000486618.1; ENSG00000128253.16. [O75678-2]
DR Ensembl; ENST00000652607.2; ENSP00000498332.1; ENSG00000128253.16. [O75678-1]
DR GeneID; 10739; -.
DR KEGG; hsa:10739; -.
DR MANE-Select; ENST00000652607.2; ENSP00000498332.1; NM_001394555.1; NP_001381484.1.
DR UCSC; uc003amg.4; human. [O75678-1]
DR CTD; 10739; -.
DR GeneCards; RFPL2; -.
DR HGNC; HGNC:9979; RFPL2.
DR HPA; ENSG00000128253; Group enriched (brain, prostate).
DR MIM; 605969; gene.
DR neXtProt; NX_O75678; -.
DR OpenTargets; ENSG00000128253; -.
DR PharmGKB; PA34348; -.
DR VEuPathDB; HostDB:ENSG00000128253; -.
DR eggNOG; KOG2177; Eukaryota.
DR GeneTree; ENSGT00940000163408; -.
DR HOGENOM; CLU_013137_7_1_1; -.
DR InParanoid; O75678; -.
DR OMA; RIRQNWQ; -.
DR OrthoDB; 1139938at2759; -.
DR PhylomeDB; O75678; -.
DR TreeFam; TF317532; -.
DR PathwayCommons; O75678; -.
DR SignaLink; O75678; -.
DR BioGRID-ORCS; 10739; 43 hits in 1068 CRISPR screens.
DR ChiTaRS; RFPL2; human.
DR GenomeRNAi; 10739; -.
DR Pharos; O75678; Tdark.
DR PRO; PR:O75678; -.
DR Proteomes; UP000005640; Chromosome 22.
DR RNAct; O75678; protein.
DR Bgee; ENSG00000128253; Expressed in buccal mucosa cell and 85 other tissues.
DR ExpressionAtlas; O75678; baseline and differential.
DR Genevisible; O75678; HS.
DR GO; GO:0000785; C:chromatin; IBA:GO_Central.
DR GO; GO:0005654; C:nucleoplasm; IBA:GO_Central.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0004842; F:ubiquitin-protein transferase activity; IBA:GO_Central.
DR GO; GO:0045893; P:positive regulation of transcription, DNA-templated; IBA:GO_Central.
DR CDD; cd15821; SPRY_PRY_RFPL; 1.
DR Gene3D; 2.60.120.920; -; 1.
DR Gene3D; 3.30.40.10; -; 1.
DR InterPro; IPR001870; B30.2/SPRY.
DR InterPro; IPR043136; B30.2/SPRY_sf.
DR InterPro; IPR003879; Butyrophylin_SPRY.
DR InterPro; IPR013320; ConA-like_dom_sf.
DR InterPro; IPR006574; PRY.
DR InterPro; IPR022723; RDM_domain_RFPL.
DR InterPro; IPR038908; RFPL.
DR InterPro; IPR037960; SPRY/PRY_RFPL.
DR InterPro; IPR003877; SPRY_dom.
DR InterPro; IPR013083; Znf_RING/FYVE/PHD.
DR PANTHER; PTHR25462:SF279; PTHR25462:SF279; 1.
DR Pfam; PF13765; PRY; 1.
DR Pfam; PF11002; RDM; 1.
DR Pfam; PF00622; SPRY; 1.
DR PRINTS; PR01407; BUTYPHLNCDUF.
DR SMART; SM00589; PRY; 1.
DR SMART; SM00449; SPRY; 1.
DR SUPFAM; SSF49899; SSF49899; 1.
DR PROSITE; PS50188; B302_SPRY; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Metal-binding; Reference proteome; Zinc; Zinc-finger.
FT CHAIN 1..378
FT /note="Ret finger protein-like 2"
FT /id="PRO_0000056031"
FT DOMAIN 168..362
FT /note="B30.2/SPRY"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00548"
FT ZN_FING 101..143
FT /note="RING-type; degenerate"
FT VAR_SEQ 1..61
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:10508838,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_038326"
FT VAR_SEQ 41..76
FT /note="LIRLEGVEGRDPVGGGNLTNKRPSCAPSPQDLSAQW -> GHGCTLPRSKQL
FT SRLLRLSGKTNVPGVWMRRLPQVH (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15461802,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_059822"
FT VAR_SEQ 62..88
FT /note="RPSCAPSPQDLSAQWKQLEDRGASSRR -> MKRLSLVTTNRLSPHGNFFTL
FT CTFPLA (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:10508838,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_038327"
FT VAR_SEQ 77..378
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15461802,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_059823"
FT VARIANT 119
FT /note="A -> T (in dbSNP:rs8135276)"
FT /id="VAR_060534"
FT VARIANT 141
FT /note="C -> Y (in dbSNP:rs136478)"
FT /evidence="ECO:0000269|PubMed:10508838,
FT ECO:0000269|PubMed:15461802"
FT /id="VAR_060535"
FT VARIANT 215
FT /note="Q -> H (in dbSNP:rs56240743)"
FT /id="VAR_060536"
FT VARIANT 290
FT /note="T -> S (in dbSNP:rs136472)"
FT /evidence="ECO:0000269|PubMed:10508838,
FT ECO:0000269|PubMed:15461802"
FT /id="VAR_060537"
FT VARIANT 324
FT /note="S -> G (in dbSNP:rs136470)"
FT /evidence="ECO:0000269|PubMed:10508838,
FT ECO:0000269|PubMed:15461802"
FT /id="VAR_060538"
FT VARIANT 341
FT /note="R -> C (in dbSNP:rs136468)"
FT /evidence="ECO:0000269|PubMed:10508838,
FT ECO:0000269|PubMed:15461802"
FT /id="VAR_060539"
FT VARIANT 348
FT /note="V -> I (in dbSNP:rs136467)"
FT /evidence="ECO:0000269|PubMed:10508838,
FT ECO:0000269|PubMed:15461802"
FT /id="VAR_060540"
SQ SEQUENCE 378 AA; 42077 MW; 670B38CDE6509BA4 CRC64;
MEVAELGFPE TAVSQSRICL CAVLCGHWDF ADMMVIRSLS LIRLEGVEGR DPVGGGNLTN
KRPSCAPSPQ DLSAQWKQLE DRGASSRRVD MAALFQEASS CPVCSDYLEK PMSLECGCAV
CLKCINSLQK EPHGEDLLCC CSSMVSRKNK IRRNRQLERL ASHIKELEPK LKKILQMNPR
MRKFQVDMTL DANTANNFLL ISDDLRSVRS GRIRQNRQDL AERFDVSVCI LGSPRFTCGR
HCWEVDVGTS TEWDLGVCRE SVHRKGRIQL TTELGFWTVS LRDGGRLSAT TVPLTFLFVD
RKLQRVGIFL DMGMQNVSFF DAESGSHVYT FRSVSAEEPL RPFLAPSVPP NGDQGVLSIC
PLMNSGTTDA PVRPGEAK
