RF1ML_HUMAN
ID RF1ML_HUMAN Reviewed; 380 AA.
AC Q9UGC7; B3KTA0; Q3KR06; Q5TF44; Q5TF50; Q96CC5; Q96EX4; Q96K40;
DT 29-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-2000, sequence version 1.
DT 03-AUG-2022, entry version 147.
DE RecName: Full=Peptide chain release factor 1-like, mitochondrial;
DE AltName: Full=Mitochondrial translational release factor 1-like;
DE AltName: Full=mtRF1a;
DE Flags: Precursor;
GN Name=MTRF1L; Synonyms=MTRF1A;
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] (ISOFORMS 1; 2 AND 3).
RC TISSUE=Tongue;
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=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANTS ALA-38 AND
RP GLN-76.
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 4), AND VARIANTS
RP ALA-38 AND GLN-76.
RC TISSUE=Eye, Muscle, and Skin;
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 FUNCTION, TISSUE SPECIFICITY, AND SUBCELLULAR LOCATION.
RX PubMed=17803939; DOI=10.1016/j.molcel.2007.06.031;
RA Soleimanpour-Lichaei H.R., Kuehl I., Gaisne M., Passos J.F., Wydro M.,
RA Rorbach J., Temperley R., Bonnefoy N., Tate W., Lightowlers R.,
RA Chrzanowska-Lightowlers Z.;
RT "mtRF1a is a human mitochondrial translation release factor decoding the
RT major termination codons UAA and UAG.";
RL Mol. Cell 27:745-757(2007).
RN [6]
RP METHYLATION AT GLN-252 BY HEMK1.
RX PubMed=18541145; DOI=10.1016/j.bbrc.2008.05.176;
RA Ishizawa T., Nozaki Y., Ueda T., Takeuchi N.;
RT "The human mitochondrial translation release factor HMRF1L is methylated in
RT the GGQ motif by the methyltransferase HMPrmC.";
RL Biochem. Biophys. Res. Commun. 373:99-103(2008).
CC -!- FUNCTION: Mitochondrial peptide chain release factor that directs the
CC termination of translation in response to the peptide chain termination
CC codons UAA and UAG. {ECO:0000269|PubMed:17803939}.
CC -!- SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:17803939}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q9UGC7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9UGC7-2; Sequence=VSP_033141, VSP_033142;
CC Name=3;
CC IsoId=Q9UGC7-3; Sequence=VSP_033139;
CC Name=4;
CC IsoId=Q9UGC7-4; Sequence=VSP_033140, VSP_033141, VSP_033142;
CC -!- TISSUE SPECIFICITY: Expressed in skeletal muscle (at protein level).
CC {ECO:0000269|PubMed:17803939}.
CC -!- PTM: Methylation of glutamine in the GGQ triplet is conserved from
CC bacteria to mammals. {ECO:0000250}.
CC -!- SIMILARITY: Belongs to the prokaryotic/mitochondrial release factor
CC family. {ECO:0000305}.
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DR EMBL; AK027684; BAB55295.1; -; mRNA.
DR EMBL; AK095240; BAG53012.1; -; mRNA.
DR EMBL; AK290662; BAF83351.1; -; mRNA.
DR EMBL; AL080276; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471051; EAW47712.1; -; Genomic_DNA.
DR EMBL; BC011873; AAH11873.1; -; mRNA.
DR EMBL; BC014428; AAH14428.1; -; mRNA.
DR EMBL; BC105973; AAI05974.1; -; mRNA.
DR CCDS; CCDS47502.1; -. [Q9UGC7-2]
DR CCDS; CCDS5243.1; -. [Q9UGC7-1]
DR CCDS; CCDS75540.1; -. [Q9UGC7-4]
DR RefSeq; NP_001107656.1; NM_001114184.2. [Q9UGC7-2]
DR RefSeq; NP_001287976.1; NM_001301047.2. [Q9UGC7-4]
DR RefSeq; NP_001288799.1; NM_001301870.1.
DR RefSeq; NP_001288800.1; NM_001301871.1. [Q9UGC7-3]
DR RefSeq; NP_061914.3; NM_019041.6. [Q9UGC7-1]
DR RefSeq; XP_016866448.1; XM_017010959.1.
DR RefSeq; XP_016866449.1; XM_017010960.1.
DR PDB; 7NQH; EM; 3.50 A; BL=20-380.
DR PDBsum; 7NQH; -.
DR AlphaFoldDB; Q9UGC7; -.
DR SMR; Q9UGC7; -.
DR BioGRID; 120010; 240.
DR IntAct; Q9UGC7; 8.
DR STRING; 9606.ENSP00000356202; -.
DR iPTMnet; Q9UGC7; -.
DR PhosphoSitePlus; Q9UGC7; -.
DR BioMuta; MTRF1L; -.
DR DMDM; 74753314; -.
DR EPD; Q9UGC7; -.
DR jPOST; Q9UGC7; -.
DR MassIVE; Q9UGC7; -.
DR MaxQB; Q9UGC7; -.
DR PaxDb; Q9UGC7; -.
DR PeptideAtlas; Q9UGC7; -.
DR PRIDE; Q9UGC7; -.
DR ProteomicsDB; 84207; -. [Q9UGC7-1]
DR ProteomicsDB; 84208; -. [Q9UGC7-2]
DR ProteomicsDB; 84209; -. [Q9UGC7-3]
DR ProteomicsDB; 84210; -. [Q9UGC7-4]
DR Antibodypedia; 33386; 234 antibodies from 15 providers.
DR DNASU; 54516; -.
DR Ensembl; ENST00000367230.5; ENSP00000356199.1; ENSG00000112031.16. [Q9UGC7-4]
DR Ensembl; ENST00000367231.9; ENSP00000356200.5; ENSG00000112031.16. [Q9UGC7-2]
DR Ensembl; ENST00000367233.10; ENSP00000356202.5; ENSG00000112031.16. [Q9UGC7-1]
DR GeneID; 54516; -.
DR KEGG; hsa:54516; -.
DR MANE-Select; ENST00000367233.10; ENSP00000356202.5; NM_019041.7; NP_061914.3.
DR UCSC; uc003qpi.5; human. [Q9UGC7-1]
DR CTD; 54516; -.
DR DisGeNET; 54516; -.
DR GeneCards; MTRF1L; -.
DR HGNC; HGNC:21051; MTRF1L.
DR HPA; ENSG00000112031; Low tissue specificity.
DR MIM; 613542; gene.
DR neXtProt; NX_Q9UGC7; -.
DR OpenTargets; ENSG00000112031; -.
DR PharmGKB; PA134870441; -.
DR VEuPathDB; HostDB:ENSG00000112031; -.
DR eggNOG; KOG2726; Eukaryota.
DR GeneTree; ENSGT00940000155683; -.
DR HOGENOM; CLU_036856_0_3_1; -.
DR InParanoid; Q9UGC7; -.
DR OMA; ISDHRVG; -.
DR OrthoDB; 1313171at2759; -.
DR PhylomeDB; Q9UGC7; -.
DR TreeFam; TF313720; -.
DR PathwayCommons; Q9UGC7; -.
DR Reactome; R-HSA-5419276; Mitochondrial translation termination.
DR SignaLink; Q9UGC7; -.
DR BioGRID-ORCS; 54516; 180 hits in 1076 CRISPR screens.
DR ChiTaRS; MTRF1L; human.
DR GeneWiki; MTRF1L; -.
DR GenomeRNAi; 54516; -.
DR Pharos; Q9UGC7; Tbio.
DR PRO; PR:Q9UGC7; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q9UGC7; protein.
DR Bgee; ENSG00000112031; Expressed in left ventricle myocardium and 193 other tissues.
DR ExpressionAtlas; Q9UGC7; baseline and differential.
DR Genevisible; Q9UGC7; HS.
DR GO; GO:0005759; C:mitochondrial matrix; TAS:Reactome.
DR GO; GO:0005739; C:mitochondrion; IDA:LIFEdb.
DR GO; GO:0003747; F:translation release factor activity; IEA:InterPro.
DR GO; GO:0070126; P:mitochondrial translational termination; IBA:GO_Central.
DR InterPro; IPR005139; PCRF.
DR InterPro; IPR000352; Pep_chain_release_fac_I.
DR InterPro; IPR045853; Pep_chain_release_fac_I_sf.
DR Pfam; PF03462; PCRF; 1.
DR Pfam; PF00472; RF-1; 1.
DR SMART; SM00937; PCRF; 1.
DR SUPFAM; SSF75620; SSF75620; 1.
DR PROSITE; PS00745; RF_PROK_I; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Coiled coil; Methylation;
KW Mitochondrion; Protein biosynthesis; Reference proteome; Transit peptide.
FT TRANSIT 1..26
FT /note="Mitochondrion"
FT CHAIN 27..380
FT /note="Peptide chain release factor 1-like, mitochondrial"
FT /id="PRO_0000330944"
FT COILED 63..117
FT /evidence="ECO:0000255"
FT MOD_RES 252
FT /note="N5-methylglutamine"
FT /evidence="ECO:0000269|PubMed:18541145"
FT VAR_SEQ 1..142
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_033139"
FT VAR_SEQ 139..174
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_033140"
FT VAR_SEQ 269..271
FT /note="GVV -> DWK (in isoform 2 and isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_033141"
FT VAR_SEQ 272..380
FT /note="Missing (in isoform 2 and isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_033142"
FT VARIANT 38
FT /note="T -> A (in dbSNP:rs3818125)"
FT /evidence="ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3"
FT /id="VAR_042725"
FT VARIANT 76
FT /note="R -> Q (in dbSNP:rs3818123)"
FT /evidence="ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3"
FT /id="VAR_042726"
FT VARIANT 177
FT /note="L -> F (in dbSNP:rs12660881)"
FT /id="VAR_042727"
FT VARIANT 214
FT /note="V -> I (in dbSNP:rs3192723)"
FT /id="VAR_042728"
SQ SEQUENCE 380 AA; 43600 MW; 69632427972521C3 CRC64;
MRSRVLWGAA RWLWPRRAVG PARRPLSSGS PPLEELFTRG GPLRTFLERQ AGSEAHLKVR
RPELLAVIKL LNEKERELRE TEHLLHDENE DLRKLAENEI TLCQKEITQL KHQIILLLVP
SEETDENDLI LEVTAGVGGQ EAMLFTSEIF DMYQQYAAFK RWHFETLEYF PSELGGLRHA
SASIGGSEAY RHMKFEGGVH RVQRVPKTEK QGRVHTSTMT VAILPQPTEI NLVINPKDLR
IDTKRASGAG GQHVNTTDSA VRIVHLPTGV VSECQQERSQ LKNKELAMTK LRAKLYSMHL
EEEINKRQNA RKIQIGSKGR SEKIRTYNFP QNRVTDHRIN KTLHDLETFM QGDYLLDELV
QSLKEYADYE SLVEIISQKV
