Q9UGC7 (RF1ML_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Peptide chain release factor 1-like, mitochondrial

Alternative name(s):
Mitochondrial translational release factor 1-like
mtRF1a

Gene names

Name:	MTRF1L
Synonyms:	MTRF1A

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	380 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Mitochondrial peptide chain release factor that directs the termination of translation in response to the peptide chain termination codons UAA and UAG. Ref.5
Subcellular location	Mitochondrion Ref.5.
Tissue specificity	Expressed in skeletal muscle (at protein level). Ref.5
Post-translational modification	Methylation of glutamine in the GGQ triplet is conserved from bacteria to mammals By similarity. Ref.6
Sequence similarities	Belongs to the prokaryotic/mitochondrial release factor family.

Ontologies

Keywords
Biological process	Protein biosynthesis
Cellular component	Mitochondrion
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Coiled coil Transit peptide
PTM	Methylation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	mitochondrion Inferred from direct assay. Source: LIFEdb
Molecular_function	translation release factor activity, codon specific Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9UGC7-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9UGC7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     269-271: GVV → DWK
     272-380: Missing.

Isoform 3 (identifier: Q9UGC7-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-142: Missing.

Isoform 4 (identifier: Q9UGC7-4)

The sequence of this isoform differs from the canonical sequence as follows:
     139-174: Missing.
     269-271: GVV → DWK
     272-380: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Transit peptide	1 – 26	26	Mitochondrion
	Chain	27 – 380	354	Peptide chain release factor 1-like, mitochondrial		PRO_0000330944
Regions
	Coiled coil	63 – 117	55	Potential
Amino acid modifications
	Modified residue	252	1	N5-methylglutamine Ref.6
Natural variations
	Alternative sequence	1 – 142	142	Missing in isoform 3.		VSP_033139
	Alternative sequence	139 – 174	36	Missing in isoform 4.		VSP_033140
	Alternative sequence	269 – 271	3	GVV → DWK in isoform 2 and isoform 4.		VSP_033141
	Alternative sequence	272 – 380	109	Missing in isoform 2 and isoform 4.		VSP_033142
	Natural variant	38	1	T → A. Ref.3 Ref.4 Corresponds to variant rs3818125 [ dbSNP | Ensembl ].		VAR_042725
	Natural variant	76	1	R → Q. Ref.3 Ref.4 Corresponds to variant rs3818123 [ dbSNP | Ensembl ].		VAR_042726
	Natural variant	177	1	L → F. Corresponds to variant rs12660881 [ dbSNP | Ensembl ].		VAR_042727
	Natural variant	214	1	V → I. Corresponds to variant rs3192723 [ dbSNP | Ensembl ].		VAR_042728

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 1, 2000. Version 1. Checksum: 69632427972521C3	FASTA	380	43,600
	10 20 30 40 50 60 MRSRVLWGAA RWLWPRRAVG PARRPLSSGS PPLEELFTRG GPLRTFLERQ AGSEAHLKVR 70 80 90 100 110 120 RPELLAVIKL LNEKERELRE TEHLLHDENE DLRKLAENEI TLCQKEITQL KHQIILLLVP 130 140 150 160 170 180 SEETDENDLI LEVTAGVGGQ EAMLFTSEIF DMYQQYAAFK RWHFETLEYF PSELGGLRHA 190 200 210 220 230 240 SASIGGSEAY RHMKFEGGVH RVQRVPKTEK QGRVHTSTMT VAILPQPTEI NLVINPKDLR 250 260 270 280 290 300 IDTKRASGAG GQHVNTTDSA VRIVHLPTGV VSECQQERSQ LKNKELAMTK LRAKLYSMHL 310 320 330 340 350 360 EEEINKRQNA RKIQIGSKGR SEKIRTYNFP QNRVTDHRIN KTLHDLETFM QGDYLLDELV 370 380 QSLKEYADYE SLVEIISQKV
	Isoform 2 [UniParc]. Checksum: B39FD6515C79633A	FASTA	271	30,832
	10 20 30 40 50 60 MRSRVLWGAA RWLWPRRAVG PARRPLSSGS PPLEELFTRG GPLRTFLERQ AGSEAHLKVR 70 80 90 100 110 120 RPELLAVIKL LNEKERELRE TEHLLHDENE DLRKLAENEI TLCQKEITQL KHQIILLLVP 130 140 150 160 170 180 SEETDENDLI LEVTAGVGGQ EAMLFTSEIF DMYQQYAAFK RWHFETLEYF PSELGGLRHA 190 200 210 220 230 240 SASIGGSEAY RHMKFEGGVH RVQRVPKTEK QGRVHTSTMT VAILPQPTEI NLVINPKDLR 250 260 270 IDTKRASGAG GQHVNTTDSA VRIVHLPTDW K
	Isoform 3 [UniParc]. Checksum: B8C2ACF69435FAFB	FASTA	238	27,392
	10 20 30 40 50 60 MLFTSEIFDM YQQYAAFKRW HFETLEYFPS ELGGLRHASA SIGGSEAYRH MKFEGGVHRV 70 80 90 100 110 120 QRVPKTEKQG RVHTSTMTVA ILPQPTEINL VINPKDLRID TKRASGAGGQ HVNTTDSAVR 130 140 150 160 170 180 IVHLPTGVVS ECQQERSQLK NKELAMTKLR AKLYSMHLEE EINKRQNARK IQIGSKGRSE 190 200 210 220 230 KIRTYNFPQN RVTDHRINKT LHDLETFMQG DYLLDELVQS LKEYADYESL VEIISQKV
	Isoform 4 [UniParc]. Checksum: 4C89C7FD0C90C2D8	FASTA	235	26,395
	10 20 30 40 50 60 MRSRVLWGAA RWLWPRRAVG PARRPLSSGS PPLEELFTRG GPLRTFLERQ AGSEAHLKVR 70 80 90 100 110 120 RPELLAVIKL LNEKERELRE TEHLLHDENE DLRKLAENEI TLCQKEITQL KHQIILLLVP 130 140 150 160 170 180 SEETDENDLI LEVTAGVGGG LRHASASIGG SEAYRHMKFE GGVHRVQRVP KTEKQGRVHT 190 200 210 220 230 STMTVAILPQ PTEINLVINP KDLRIDTKRA SGAGGQHVNT TDSAVRIVHL PTDWK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3). Tissue: Tongue.
[2]	"The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S. Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS ALA-38 AND GLN-76.
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 4), VARIANTS ALA-38 AND GLN-76. Tissue: Eye, Muscle and Skin.
[5]	"mtRF1a is a human mitochondrial translation release factor decoding the major termination codons UAA and UAG." Soleimanpour-Lichaei H.R., Kuehl I., Gaisne M., Passos J.F., Wydro M., Rorbach J., Temperley R., Bonnefoy N., Tate W., Lightowlers R., Chrzanowska-Lightowlers Z. Mol. Cell 27:745-757(2007) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
[6]	"The human mitochondrial translation release factor HMRF1L is methylated in the GGQ motif by the methyltransferase HMPrmC." Ishizawa T., Nozaki Y., Ueda T., Takeuchi N. Biochem. Biophys. Res. Commun. 373:99-103(2008) [PubMed] [Europe PMC] [Abstract] Cited for: METHYLATION AT GLN-252 BY HEMK1.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK027684 mRNA. Translation: BAB55295.1. AK095240 mRNA. Translation: BAG53012.1. AK290662 mRNA. Translation: BAF83351.1. AL080276 Genomic DNA. Translation: CAB65994.1. AL080276 Genomic DNA. Translation: CAI18897.1. AL080276 Genomic DNA. Translation: CAI18898.1. AL080276 Genomic DNA. Translation: CAI18899.1. CH471051 Genomic DNA. Translation: EAW47712.1. BC011873 mRNA. Translation: AAH11873.1. BC014428 mRNA. Translation: AAH14428.1. BC105973 mRNA. Translation: AAI05974.1.
IPI	IPI00295737. IPI00477207. IPI00513970. IPI00890825.
RefSeq	NP_001107656.1. NM_001114184.1. NP_061914.3. NM_019041.5.
UniGene	Hs.225836.
3D structure databases
HSSP	HSSP built from PDB template 1RQ0 based on UniProtKB Q9X183.
ProteinModelPortal	Q9UGC7.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000356202.
PTM databases
PhosphoSite	Q9UGC7.
Polymorphism databases
DMDM	74753314.
Proteomic databases
PaxDb	Q9UGC7.
PRIDE	Q9UGC7.
Protocols and materials databases
DNASU	54516.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000367230; ENSP00000356199; ENSG00000112031. ENST00000367231; ENSP00000356200; ENSG00000112031. ENST00000367233; ENSP00000356202; ENSG00000112031. ENST00000414771; ENSP00000414383; ENSG00000112031.
GeneID	54516.
KEGG	hsa:54516.
UCSC	uc003qpi.4. human. uc003qpk.4. human. uc003qpl.4. human.
Organism-specific databases
CTD	54516.
GeneCards	GC06M153308.
H-InvDB	HIX0006308.
HGNC	HGNC:21051. MTRF1L.
HPA	HPA036367.
MIM	613542. gene.
neXtProt	NX_Q9UGC7.
PharmGKB	PA134870441.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0216.
HOVERGEN	HBG017071.
InParanoid	Q9UGC7.
KO	K02835.
OMA	YSMKLEE.
OrthoDB	EOG49W2G0.
PhylomeDB	Q9UGC7.
Gene expression databases
ArrayExpress	Q9UGC7.
Bgee	Q9UGC7.
CleanEx	HS_MTRF1L.
Genevestigator	Q9UGC7.
Family and domain databases
Gene3D	3.30.160.20. 1 hit.
InterPro	IPR014720. dsRNA-bd-like_dom. IPR005139. PCRF. IPR000352. Pep_chain_release_fac_I_II. [Graphical view]
Pfam	PF03462. PCRF. 1 hit. PF00472. RF-1. 1 hit. [Graphical view]
SMART	SM00937. PCRF. 1 hit. [Graphical view]
PROSITE	PS00745. RF_PROK_I. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	54516.
NextBio	56904.
SOURCE	Search...

Entry information

Entry name

RF1ML_HUMAN

Accession

Primary (citable) accession number: Q9UGC7
Secondary accession number(s): B3KTA0 , Q3KR06, Q5TF44, Q5TF50, Q96CC5, Q96EX4, Q96K40

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 29, 2008
Last sequence update:	May 1, 2000
Last modified:	May 1, 2013
This is version 82 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.