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Protein

Peptide chain release factor 1-like, mitochondrial

Gene

MTRF1L

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Mitochondrial peptide chain release factor that directs the termination of translation in response to the peptide chain termination codons UAA and UAG.1 Publication

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Protein biosynthesis

Enzyme and pathway databases

ReactomeiREACT_268261. Mitochondrial translation termination.

Names & Taxonomyi

Protein namesi
Recommended name:
Peptide chain release factor 1-like, mitochondrial
Alternative name(s):
Mitochondrial translational release factor 1-like
mtRF1a
Gene namesi
Name:MTRF1L
Synonyms:MTRF1A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:21051. MTRF1L.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134870441.

Polymorphism and mutation databases

BioMutaiMTRF1L.
DMDMi74753314.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 2626MitochondrionAdd
BLAST
Chaini27 – 380354Peptide chain release factor 1-like, mitochondrialPRO_0000330944Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei252 – 2521N5-methylglutamine1 Publication

Post-translational modificationi

Methylation of glutamine in the GGQ triplet is conserved from bacteria to mammals.By similarity

Keywords - PTMi

Methylation

Proteomic databases

MaxQBiQ9UGC7.
PaxDbiQ9UGC7.
PRIDEiQ9UGC7.

PTM databases

PhosphoSiteiQ9UGC7.

Expressioni

Tissue specificityi

Expressed in skeletal muscle (at protein level).1 Publication

Gene expression databases

BgeeiQ9UGC7.
CleanExiHS_MTRF1L.
ExpressionAtlasiQ9UGC7. baseline and differential.
GenevisibleiQ9UGC7. HS.

Organism-specific databases

HPAiHPA036367.

Interactioni

Protein-protein interaction databases

BioGridi120010. 4 interactions.
STRINGi9606.ENSP00000356202.

Structurei

3D structure databases

ProteinModelPortaliQ9UGC7.
SMRiQ9UGC7. Positions 76-375.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili63 – 11755Sequence AnalysisAdd
BLAST

Sequence similaritiesi

Keywords - Domaini

Coiled coil, Transit peptide

Phylogenomic databases

eggNOGiCOG0216.
GeneTreeiENSGT00390000011879.
HOVERGENiHBG017071.
InParanoidiQ9UGC7.
KOiK02835.
OMAiFIFTENN.
OrthoDBiEOG7DRJ33.
PhylomeDBiQ9UGC7.
TreeFamiTF313720.

Family and domain databases

Gene3Di3.30.160.20. 1 hit.
InterProiIPR014720. dsRNA-bd_dom.
IPR005139. PCRF.
IPR000352. Pep_chain_release_fac_I_II.
[Graphical view]
PfamiPF03462. PCRF. 1 hit.
PF00472. RF-1. 1 hit.
[Graphical view]
SMARTiSM00937. PCRF. 1 hit.
[Graphical view]
PROSITEiPS00745. RF_PROK_I. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9UGC7-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MRSRVLWGAA RWLWPRRAVG PARRPLSSGS PPLEELFTRG GPLRTFLERQ
60 70 80 90 100
AGSEAHLKVR RPELLAVIKL LNEKERELRE TEHLLHDENE DLRKLAENEI
110 120 130 140 150
TLCQKEITQL KHQIILLLVP SEETDENDLI LEVTAGVGGQ EAMLFTSEIF
160 170 180 190 200
DMYQQYAAFK RWHFETLEYF PSELGGLRHA SASIGGSEAY RHMKFEGGVH
210 220 230 240 250
RVQRVPKTEK QGRVHTSTMT VAILPQPTEI NLVINPKDLR IDTKRASGAG
260 270 280 290 300
GQHVNTTDSA VRIVHLPTGV VSECQQERSQ LKNKELAMTK LRAKLYSMHL
310 320 330 340 350
EEEINKRQNA RKIQIGSKGR SEKIRTYNFP QNRVTDHRIN KTLHDLETFM
360 370 380
QGDYLLDELV QSLKEYADYE SLVEIISQKV
Length:380
Mass (Da):43,600
Last modified:May 1, 2000 - v1
Checksum:i69632427972521C3
GO
Isoform 2 (identifier: Q9UGC7-2) [UniParc]FASTAAdd to basket

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

Show »
Length:271
Mass (Da):30,832
Checksum:iB39FD6515C79633A
GO
Isoform 3 (identifier: Q9UGC7-3) [UniParc]FASTAAdd to basket

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

Show »
Length:238
Mass (Da):27,392
Checksum:iB8C2ACF69435FAFB
GO
Isoform 4 (identifier: Q9UGC7-4) [UniParc]FASTAAdd to basket

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

Show »
Length:235
Mass (Da):26,395
Checksum:i4C89C7FD0C90C2D8
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti38 – 381T → A.2 Publications
Corresponds to variant rs3818125 [ dbSNP | Ensembl ].
VAR_042725
Natural varianti76 – 761R → Q.2 Publications
Corresponds to variant rs3818123 [ dbSNP | Ensembl ].
VAR_042726
Natural varianti177 – 1771L → F.
Corresponds to variant rs12660881 [ dbSNP | Ensembl ].
VAR_042727
Natural varianti214 – 2141V → I.
Corresponds to variant rs3192723 [ dbSNP | Ensembl ].
VAR_042728

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 142142Missing in isoform 3. 1 PublicationVSP_033139Add
BLAST
Alternative sequencei139 – 17436Missing in isoform 4. 1 PublicationVSP_033140Add
BLAST
Alternative sequencei269 – 2713GVV → DWK in isoform 2 and isoform 4. 2 PublicationsVSP_033141
Alternative sequencei272 – 380109Missing in isoform 2 and isoform 4. 2 PublicationsVSP_033142Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS47502.1. [Q9UGC7-2]
CCDS5243.1. [Q9UGC7-1]
CCDS75540.1. [Q9UGC7-4]
RefSeqiNP_001107656.1. NM_001114184.2. [Q9UGC7-2]
NP_001287976.1. NM_001301047.2. [Q9UGC7-4]
NP_001288799.1. NM_001301870.1.
NP_001288800.1. NM_001301871.1. [Q9UGC7-3]
NP_061914.3. NM_019041.6. [Q9UGC7-1]
UniGeneiHs.225836.
Hs.304818.
Hs.732132.

Genome annotation databases

EnsembliENST00000367230; ENSP00000356199; ENSG00000112031. [Q9UGC7-4]
ENST00000367231; ENSP00000356200; ENSG00000112031. [Q9UGC7-2]
ENST00000367233; ENSP00000356202; ENSG00000112031. [Q9UGC7-1]
GeneIDi54516.
KEGGihsa:54516.
UCSCiuc003qpi.4. human. [Q9UGC7-1]
uc003qpk.4. human. [Q9UGC7-4]
uc003qpl.4. human. [Q9UGC7-2]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS47502.1. [Q9UGC7-2]
CCDS5243.1. [Q9UGC7-1]
CCDS75540.1. [Q9UGC7-4]
RefSeqiNP_001107656.1. NM_001114184.2. [Q9UGC7-2]
NP_001287976.1. NM_001301047.2. [Q9UGC7-4]
NP_001288799.1. NM_001301870.1.
NP_001288800.1. NM_001301871.1. [Q9UGC7-3]
NP_061914.3. NM_019041.6. [Q9UGC7-1]
UniGeneiHs.225836.
Hs.304818.
Hs.732132.

3D structure databases

ProteinModelPortaliQ9UGC7.
SMRiQ9UGC7. Positions 76-375.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120010. 4 interactions.
STRINGi9606.ENSP00000356202.

PTM databases

PhosphoSiteiQ9UGC7.

Polymorphism and mutation databases

BioMutaiMTRF1L.
DMDMi74753314.

Proteomic databases

MaxQBiQ9UGC7.
PaxDbiQ9UGC7.
PRIDEiQ9UGC7.

Protocols and materials databases

DNASUi54516.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000367230; ENSP00000356199; ENSG00000112031. [Q9UGC7-4]
ENST00000367231; ENSP00000356200; ENSG00000112031. [Q9UGC7-2]
ENST00000367233; ENSP00000356202; ENSG00000112031. [Q9UGC7-1]
GeneIDi54516.
KEGGihsa:54516.
UCSCiuc003qpi.4. human. [Q9UGC7-1]
uc003qpk.4. human. [Q9UGC7-4]
uc003qpl.4. human. [Q9UGC7-2]

Organism-specific databases

CTDi54516.
GeneCardsiGC06M153308.
H-InvDBHIX0006308.
HGNCiHGNC:21051. MTRF1L.
HPAiHPA036367.
MIMi613542. gene.
neXtProtiNX_Q9UGC7.
PharmGKBiPA134870441.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG0216.
GeneTreeiENSGT00390000011879.
HOVERGENiHBG017071.
InParanoidiQ9UGC7.
KOiK02835.
OMAiFIFTENN.
OrthoDBiEOG7DRJ33.
PhylomeDBiQ9UGC7.
TreeFamiTF313720.

Enzyme and pathway databases

ReactomeiREACT_268261. Mitochondrial translation termination.

Miscellaneous databases

GeneWikiiMTRF1L.
GenomeRNAii54516.
NextBioi56904.
PROiQ9UGC7.
SOURCEiSearch...

Gene expression databases

BgeeiQ9UGC7.
CleanExiHS_MTRF1L.
ExpressionAtlasiQ9UGC7. baseline and differential.
GenevisibleiQ9UGC7. HS.

Family and domain databases

Gene3Di3.30.160.20. 1 hit.
InterProiIPR014720. dsRNA-bd_dom.
IPR005139. PCRF.
IPR000352. Pep_chain_release_fac_I_II.
[Graphical view]
PfamiPF03462. PCRF. 1 hit.
PF00472. RF-1. 1 hit.
[Graphical view]
SMARTiSM00937. PCRF. 1 hit.
[Graphical view]
PROSITEiPS00745. RF_PROK_I. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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. 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.

Entry informationi

Entry nameiRF1ML_HUMAN
AccessioniPrimary (citable) accession number: Q9UGC7
Secondary accession number(s): B3KTA0
, Q3KR06, Q5TF44, Q5TF50, Q96CC5, Q96EX4, Q96K40
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 29, 2008
Last sequence update: May 1, 2000
Last modified: June 24, 2015
This is version 102 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.