RL3L_HUMAN
ID RL3L_HUMAN Reviewed; 407 AA.
AC Q92901;
DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
DT 23-JAN-2007, sequence version 3.
DT 03-AUG-2022, entry version 165.
DE RecName: Full=60S ribosomal protein L3-like;
DE AltName: Full=Large ribosomal subunit protein uL3-like;
GN Name=RPL3L;
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].
RC TISSUE=Heart muscle;
RX PubMed=8921388; DOI=10.1006/geno.1996.0538;
RA van Raay T.J., Connors T.D., Klinger K.W., Landes G.M., Burn T.C.;
RT "A novel ribosomal protein L3-like gene (RPL3L) maps to the autosomal
RT dominant polycystic kidney disease gene region.";
RL Genomics 37:172-176(1996).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11157797; DOI=10.1093/hmg/10.4.339;
RA Daniels R.J., Peden J.F., Lloyd C., Horsley S.W., Clark K., Tufarelli C.,
RA Kearney L., Buckle V.J., Doggett N.A., Flint J., Higgs D.R.;
RT "Sequence, structure and pathology of the fully annotated terminal 2 Mb of
RT the short arm of human chromosome 16.";
RL Hum. Mol. Genet. 10:339-352(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=PNS;
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 CMD2D HIS-116, AND INVOLVEMENT IN CMD2D.
RX PubMed=32870709; DOI=10.1161/circgen.120.002969;
RA Al-Hassnan Z.N., Almesned A., Tulbah S., Alakhfash A., Alhadeq F.,
RA Alruwaili N., Alkorashy M., Alhashem A., Alrashdan A., Faqeih E.,
RA Alkhalifi S.M., Al Humaidi Z., Sogaty S., Azhari N., Bakhaider A.M.,
RA Al Asmari A., Awaji A., Albash B., Alhabdan M., Alghamdi M.A.,
RA Alshuaibi W., Al-Hassnan R.Z., Alshenqiti A., Alqahtani A., Shinwari Z.,
RA Rbabeh M., Takroni S., Alomrani A., Albert Brotons D.C., Alqwaee A.M.,
RA Almanea W., Alfadley F.A., Alfayyadh M., Alwadai A.;
RT "Categorized genetic analysis in childhood-onset cardiomyopathy.";
RL Circ. Genom. Precis. Med. 13:504-514(2020).
RN [5]
RP VARIANTS CMD2D ASP-27; TRP-161; MET-189; ASN-308; VAL-308 AND TRP-343, AND
RP INVOLVEMENT IN CMD2D.
RX PubMed=32514796; DOI=10.1007/s00439-020-02188-6;
RA Ganapathi M., Argyriou L., Martinez-Azorin F., Morlot S., Yigit G.,
RA Lee T.M., Auber B., von Gise A., Petrey D.S., Thiele H., Cyganek L.,
RA Sabater-Molina M., Ahimaz P., Cabezas-Herrera J., Sorli-Garcia M.,
RA Zibat A., Siegelin M.D., Burfeind P., Buchovecky C.M., Hasenfuss G.,
RA Honig B., Li Y., Iglesias A.D., Wollnik B.;
RT "Bi-allelic missense disease-causing variants in RPL3L associate neonatal
RT dilated cardiomyopathy with muscle-specific ribosome biogenesis.";
RL Hum. Genet. 139:1443-1454(2020).
CC -!- DISEASE: Cardiomyopathy, dilated 2D (CMD2D) [MIM:619371]: A form of
CC dilated cardiomyopathy, a disorder characterized by ventricular
CC dilation and impaired systolic function, resulting in congestive heart
CC failure and arrhythmia. Patients are at risk of premature death. CMD2D
CC is an autosomal recessive, severe form with neonatal onset.
CC {ECO:0000269|PubMed:32514796, ECO:0000269|PubMed:32870709}. Note=The
CC disease may be caused by variants affecting the gene represented in
CC this entry.
CC -!- SIMILARITY: Belongs to the universal ribosomal protein uL3 family.
CC {ECO:0000305}.
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DR EMBL; U65581; AAC50777.1; -; mRNA.
DR EMBL; AE006640; AAK61301.1; -; Genomic_DNA.
DR EMBL; BC050413; AAH50413.1; -; mRNA.
DR CCDS; CCDS10450.1; -.
DR RefSeq; NP_005052.1; NM_005061.2.
DR AlphaFoldDB; Q92901; -.
DR SMR; Q92901; -.
DR BioGRID; 112043; 65.
DR IntAct; Q92901; 6.
DR STRING; 9606.ENSP00000268661; -.
DR iPTMnet; Q92901; -.
DR PhosphoSitePlus; Q92901; -.
DR SwissPalm; Q92901; -.
DR BioMuta; RPL3L; -.
DR DMDM; 2500230; -.
DR EPD; Q92901; -.
DR jPOST; Q92901; -.
DR MassIVE; Q92901; -.
DR MaxQB; Q92901; -.
DR PaxDb; Q92901; -.
DR PeptideAtlas; Q92901; -.
DR PRIDE; Q92901; -.
DR ProteomicsDB; 75583; -.
DR Antibodypedia; 23334; 69 antibodies from 22 providers.
DR DNASU; 6123; -.
DR Ensembl; ENST00000268661.8; ENSP00000268661.7; ENSG00000140986.8.
DR GeneID; 6123; -.
DR KEGG; hsa:6123; -.
DR MANE-Select; ENST00000268661.8; ENSP00000268661.7; NM_005061.3; NP_005052.1.
DR UCSC; uc002cnh.4; human.
DR CTD; 6123; -.
DR DisGeNET; 6123; -.
DR GeneCards; RPL3L; -.
DR HGNC; HGNC:10351; RPL3L.
DR HPA; ENSG00000140986; Group enriched (skeletal muscle, tongue).
DR MIM; 617416; gene.
DR MIM; 619371; phenotype.
DR neXtProt; NX_Q92901; -.
DR OpenTargets; ENSG00000140986; -.
DR PharmGKB; PA34746; -.
DR VEuPathDB; HostDB:ENSG00000140986; -.
DR eggNOG; KOG0746; Eukaryota.
DR GeneTree; ENSGT00390000017606; -.
DR HOGENOM; CLU_033361_1_0_1; -.
DR InParanoid; Q92901; -.
DR OMA; QMKKYCS; -.
DR OrthoDB; 793191at2759; -.
DR PhylomeDB; Q92901; -.
DR TreeFam; TF300555; -.
DR PathwayCommons; Q92901; -.
DR Reactome; R-HSA-156827; L13a-mediated translational silencing of Ceruloplasmin expression.
DR Reactome; R-HSA-156902; Peptide chain elongation.
DR Reactome; R-HSA-1799339; SRP-dependent cotranslational protein targeting to membrane.
DR Reactome; R-HSA-192823; Viral mRNA Translation.
DR Reactome; R-HSA-2408557; Selenocysteine synthesis.
DR Reactome; R-HSA-6791226; Major pathway of rRNA processing in the nucleolus and cytosol.
DR Reactome; R-HSA-72689; Formation of a pool of free 40S subunits.
DR Reactome; R-HSA-72706; GTP hydrolysis and joining of the 60S ribosomal subunit.
DR Reactome; R-HSA-72764; Eukaryotic Translation Termination.
DR Reactome; R-HSA-9010553; Regulation of expression of SLITs and ROBOs.
DR Reactome; R-HSA-9633012; Response of EIF2AK4 (GCN2) to amino acid deficiency.
DR Reactome; R-HSA-975956; Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC).
DR Reactome; R-HSA-975957; Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC).
DR SignaLink; Q92901; -.
DR SIGNOR; Q92901; -.
DR BioGRID-ORCS; 6123; 12 hits in 1074 CRISPR screens.
DR GenomeRNAi; 6123; -.
DR Pharos; Q92901; Tbio.
DR PRO; PR:Q92901; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; Q92901; protein.
DR Bgee; ENSG00000140986; Expressed in skeletal muscle tissue of rectus abdominis and 103 other tissues.
DR ExpressionAtlas; Q92901; baseline and differential.
DR Genevisible; Q92901; HS.
DR GO; GO:0022625; C:cytosolic large ribosomal subunit; HDA:UniProtKB.
DR GO; GO:0016020; C:membrane; HDA:UniProtKB.
DR GO; GO:0005840; C:ribosome; TAS:ProtInc.
DR GO; GO:0003723; F:RNA binding; IBA:GO_Central.
DR GO; GO:0003735; F:structural constituent of ribosome; IBA:GO_Central.
DR GO; GO:0006412; P:translation; IBA:GO_Central.
DR Gene3D; 4.10.960.10; -; 1.
DR InterPro; IPR045077; L3_arc_euk.
DR InterPro; IPR000597; Ribosomal_L3.
DR InterPro; IPR019926; Ribosomal_L3_CS.
DR InterPro; IPR044892; Ribosomal_L3_dom_3_arc_sf.
DR InterPro; IPR009000; Transl_B-barrel_sf.
DR PANTHER; PTHR11363; PTHR11363; 1.
DR Pfam; PF00297; Ribosomal_L3; 1.
DR SUPFAM; SSF50447; SSF50447; 1.
DR PROSITE; PS00474; RIBOSOMAL_L3; 1.
PE 1: Evidence at protein level;
KW Cardiomyopathy; Disease variant; Reference proteome; Ribonucleoprotein;
KW Ribosomal protein.
FT CHAIN 1..407
FT /note="60S ribosomal protein L3-like"
FT /id="PRO_0000077233"
FT REGION 1..35
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 387..407
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..28
FT /note="Basic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 388..407
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 27
FT /note="G -> D (in CMD2D; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:32514796"
FT /id="VAR_085880"
FT VARIANT 116
FT /note="R -> H (in CMD2D; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:32870709"
FT /id="VAR_085881"
FT VARIANT 161
FT /note="R -> W (in CMD2D; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:32514796"
FT /id="VAR_085882"
FT VARIANT 189
FT /note="T -> M (in CMD2D; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:32514796"
FT /id="VAR_085883"
FT VARIANT 291
FT /note="P -> L (in dbSNP:rs34265469)"
FT /id="VAR_034461"
FT VARIANT 308
FT /note="D -> N (in CMD2D; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:32514796"
FT /id="VAR_085884"
FT VARIANT 308
FT /note="D -> V (in CMD2D; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:32514796"
FT /id="VAR_085885"
FT VARIANT 343
FT /note="R -> W (in CMD2D; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:32514796"
FT /id="VAR_085886"
SQ SEQUENCE 407 AA; 46296 MW; 1965327E225F80D2 CRC64;
MSHRKFSAPR HGHLGFLPHK RSHRHRGKVK TWPRDDPSQP VHLTAFLGYK AGMTHTLREV
HRPGLKISKR EEVEAVTIVE TPPLVVVGVV GYVATPRGLR SFKTIFAEHL SDECRRRFYK
DWHKSKKKAF TKACKRWRDT DGKKQLQKDF AAMKKYCKVI RVIVHTQMKL LPFRQKKAHI
MEIQLNGGTV AEKVAWAQAR LEKQVPVHSV FSQSEVIDVI AVTKGRGVKG VTSRWHTKKL
PRKTHKGLRK VACIGAWHPA RVGCSIARAG QKGYHHRTEL NKKIFRIGRG PHMEDGKLVK
NNASTSYDVT AKSITPLGGF PHYGEVNNDF VMLKGCIAGT KKRVITLRKS LLVHHSRQAV
ENIELKFIDT TSKFGHGRFQ TAQEKRAFMG PQKKHLEKET PETSGDL
