RF1M_HUMAN
ID RF1M_HUMAN Reviewed; 445 AA.
AC O75570; B4DG01; Q5T6Y5; Q8IUQ6;
DT 15-DEC-1998, integrated into UniProtKB/Swiss-Prot.
DT 12-APR-2005, sequence version 2.
DT 03-AUG-2022, entry version 171.
DE RecName: Full=Peptide chain release factor 1, mitochondrial;
DE Short=MRF-1;
DE Short=MtRF-1;
DE Flags: Precursor;
GN Name=MTRF1;
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).
RX PubMed=9838146; DOI=10.1016/s0167-4781(98)00223-1;
RA Zhang Y., Spremulli L.L.;
RT "Identification and cloning of human mitochondrial translational release
RT factor 1 and the ribosome recycling factor.";
RL Biochim. Biophys. Acta 1443:245-250(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Amygdala;
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=15057823; DOI=10.1038/nature02379;
RA Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L.,
RA Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S.,
RA Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P.,
RA Ambrose K.D., Andrews D.T., Ashwell R.I.S., Babbage A.K., Bagguley C.L.,
RA Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P.,
RA Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P.,
RA Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C.,
RA Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P.,
RA Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L.,
RA Frankish A.G., Frankland J., French L., Garner P., Garnett J.,
RA Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M.,
RA Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D.,
RA Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D.,
RA Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S.,
RA Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S.,
RA Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R.,
RA Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W.,
RA Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P.,
RA Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L.,
RA Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R.,
RA Rogers J., Ross M.T.;
RT "The DNA sequence and analysis of human chromosome 13.";
RL Nature 428:522-528(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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 PROBABLE FUNCTION AS A RELEASE FACTOR, 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).
CC -!- FUNCTION: Mitochondrial peptide chain release factor that directs the
CC termination of translation in response to the peptide chain non-cognate
CC termination stop codons AGG and AGA.
CC -!- SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:17803939}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=O75570-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O75570-2; Sequence=VSP_055858, VSP_055859;
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; AF072934; AAD12759.1; -; mRNA.
DR EMBL; AK294343; BAG57612.1; -; mRNA.
DR EMBL; AL354696; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC042196; AAH42196.1; -; mRNA.
DR CCDS; CCDS9378.1; -. [O75570-1]
DR RefSeq; NP_004285.2; NM_004294.2. [O75570-1]
DR RefSeq; XP_005266656.1; XM_005266599.2.
DR RefSeq; XP_006719960.1; XM_006719897.2.
DR RefSeq; XP_006719961.1; XM_006719898.2. [O75570-1]
DR RefSeq; XP_006719963.1; XM_006719900.2. [O75570-1]
DR RefSeq; XP_011533620.1; XM_011535318.2. [O75570-1]
DR RefSeq; XP_011533622.1; XM_011535320.2. [O75570-1]
DR RefSeq; XP_011533623.1; XM_011535321.2. [O75570-1]
DR RefSeq; XP_011533625.1; XM_011535323.2. [O75570-1]
DR RefSeq; XP_011533627.1; XM_011535325.2. [O75570-1]
DR RefSeq; XP_016876351.1; XM_017020862.1.
DR RefSeq; XP_016876352.1; XM_017020863.1.
DR RefSeq; XP_016876353.1; XM_017020864.1.
DR RefSeq; XP_016876354.1; XM_017020865.1. [O75570-1]
DR RefSeq; XP_016876355.1; XM_017020866.1. [O75570-1]
DR RefSeq; XP_016876356.1; XM_017020867.1. [O75570-1]
DR RefSeq; XP_016876357.1; XM_017020868.1. [O75570-1]
DR RefSeq; XP_016876358.1; XM_017020869.1. [O75570-1]
DR RefSeq; XP_016876362.1; XM_017020873.1.
DR RefSeq; XP_016876363.1; XM_017020874.1. [O75570-1]
DR RefSeq; XP_016876364.1; XM_017020875.1. [O75570-1]
DR AlphaFoldDB; O75570; -.
DR SMR; O75570; -.
DR BioGRID; 114978; 243.
DR IntAct; O75570; 3.
DR STRING; 9606.ENSP00000368793; -.
DR iPTMnet; O75570; -.
DR PhosphoSitePlus; O75570; -.
DR SwissPalm; O75570; -.
DR BioMuta; MTRF1; -.
DR EPD; O75570; -.
DR jPOST; O75570; -.
DR MassIVE; O75570; -.
DR MaxQB; O75570; -.
DR PaxDb; O75570; -.
DR PeptideAtlas; O75570; -.
DR PRIDE; O75570; -.
DR ProteomicsDB; 4093; -.
DR ProteomicsDB; 50091; -. [O75570-1]
DR Antibodypedia; 23394; 159 antibodies from 23 providers.
DR DNASU; 9617; -.
DR Ensembl; ENST00000379477.5; ENSP00000368790.1; ENSG00000120662.16. [O75570-1]
DR Ensembl; ENST00000379480.9; ENSP00000368793.3; ENSG00000120662.16. [O75570-1]
DR GeneID; 9617; -.
DR KEGG; hsa:9617; -.
DR MANE-Select; ENST00000379480.9; ENSP00000368793.3; NM_004294.4; NP_004285.2.
DR UCSC; uc001uxx.4; human. [O75570-1]
DR CTD; 9617; -.
DR DisGeNET; 9617; -.
DR GeneCards; MTRF1; -.
DR HGNC; HGNC:7469; MTRF1.
DR HPA; ENSG00000120662; Low tissue specificity.
DR MIM; 604601; gene.
DR neXtProt; NX_O75570; -.
DR OpenTargets; ENSG00000120662; -.
DR PharmGKB; PA31273; -.
DR VEuPathDB; HostDB:ENSG00000120662; -.
DR eggNOG; KOG2726; Eukaryota.
DR GeneTree; ENSGT00940000156877; -.
DR HOGENOM; CLU_036856_0_3_1; -.
DR InParanoid; O75570; -.
DR OMA; CHQDTRM; -.
DR OrthoDB; 1313171at2759; -.
DR PhylomeDB; O75570; -.
DR TreeFam; TF313720; -.
DR PathwayCommons; O75570; -.
DR SignaLink; O75570; -.
DR BioGRID-ORCS; 9617; 46 hits in 1079 CRISPR screens.
DR ChiTaRS; MTRF1; human.
DR GeneWiki; MTRF1; -.
DR GenomeRNAi; 9617; -.
DR Pharos; O75570; Tbio.
DR PRO; PR:O75570; -.
DR Proteomes; UP000005640; Chromosome 13.
DR RNAct; O75570; protein.
DR Bgee; ENSG00000120662; Expressed in body of pancreas and 186 other tissues.
DR ExpressionAtlas; O75570; baseline and differential.
DR Genevisible; O75570; HS.
DR GO; GO:0005739; C:mitochondrion; IBA:GO_Central.
DR GO; GO:0003747; F:translation release factor activity; TAS:ProtInc.
DR GO; GO:0070126; P:mitochondrial translational termination; IBA:GO_Central.
DR GO; GO:0006449; P:regulation of translational termination; TAS:ProtInc.
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 Alternative splicing; Methylation; Mitochondrion; Protein biosynthesis;
KW Reference proteome; Transit peptide.
FT TRANSIT 1..?
FT /note="Mitochondrion"
FT /evidence="ECO:0000255"
FT CHAIN ?..445
FT /note="Peptide chain release factor 1, mitochondrial"
FT /id="PRO_0000030333"
FT MOD_RES 313
FT /note="N5-methylglutamine"
FT /evidence="ECO:0000250"
FT VAR_SEQ 1
FT /note="M -> MGNGEVVLFSDAEM (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_055858"
FT VAR_SEQ 409..445
FT /note="EFLCGGKGLDQLIQRLLQSADEEAIAELLDEHLKSAK -> AQSHSTGGSRD
FT PAHSTFLSLDSVRSPGILIMTSSVRNFYVVGRAWIS (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_055859"
FT VARIANT 2
FT /note="N -> S (in dbSNP:rs9532758)"
FT /id="VAR_024603"
FT VARIANT 324
FT /note="L -> V (in dbSNP:rs9566725)"
FT /id="VAR_034447"
FT VARIANT 407
FT /note="I -> V (in dbSNP:rs9315812)"
FT /id="VAR_051789"
FT CONFLICT 63
FT /note="H -> L (in Ref. 1; AAD12759)"
FT /evidence="ECO:0000305"
FT CONFLICT 71
FT /note="K -> N (in Ref. 1; AAD12759)"
FT /evidence="ECO:0000305"
FT CONFLICT 102
FT /note="N -> S (in Ref. 1; AAD12759)"
FT /evidence="ECO:0000305"
FT CONFLICT 123
FT /note="I -> T (in Ref. 1; AAD12759)"
FT /evidence="ECO:0000305"
FT CONFLICT 134
FT /note="E -> G (in Ref. 1; AAD12759)"
FT /evidence="ECO:0000305"
FT CONFLICT 143
FT /note="Q -> R (in Ref. 1; AAD12759)"
FT /evidence="ECO:0000305"
FT CONFLICT 149
FT /note="Q -> L (in Ref. 1; AAD12759)"
FT /evidence="ECO:0000305"
FT CONFLICT 224
FT /note="L -> P (in Ref. 1; AAD12759)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 445 AA; 52306 MW; 3DC637D90F04C6F7 CRC64;
MNRHLCVWLF RHPSLNGYLQ CHIQLHSHQF RQIHLDTRLQ VFRQNRNCIL HLLSKNWSRR
YCHQDTKMLW KHKALQKYME NLSKEYQTLE QCLQHIPVNE ENRRSLNRRH AELAPLAAIY
QEIQETEQAI EELESMCKSL NKQDEKQLQE LALEERQTID QKINMLYNEL FQSLVPKEKY
DKNDVILEVT AGRTTGGDIC QQFTREIFDM YQNYSCYKHW QFELLNYTPA DYGGLHHAAA
RISGDGVYKH LKYEGGIHRV QRIPEVGLSS RMQRIHTGTM SVIVLPQPDE VDVKLDPKDL
RIDTFRAKGA GGQHVNKTDS AVRLVHIPTG LVVECQQERS QIKNKEIAFR VLRARLYQQI
IEKDKRQQQS ARKLQVGTRA QSERIRTYNF TQDRVSDHRI AYEVRDIKEF LCGGKGLDQL
IQRLLQSADE EAIAELLDEH LKSAK
