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Q9UGC7 (RF1ML_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 91. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Peptide chain release factor 1-like, mitochondrial
Alternative name(s):
Mitochondrial translational release factor 1-like
mtRF1a
Gene names
Name:MTRF1L
Synonyms:MTRF1A
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length380 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence 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 processProtein biosynthesis
   Cellular componentMitochondrion
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainCoiled coil
Transit peptide
   PTMMethylation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentmitochondrion

Inferred from direct assay. Source: LIFEdb

   Molecular_functiontranslation 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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – 2626Mitochondrion
Chain27 – 380354Peptide chain release factor 1-like, mitochondrial
PRO_0000330944

Regions

Coiled coil63 – 11755 Potential

Amino acid modifications

Modified residue2521N5-methylglutamine Ref.6

Natural variations

Alternative sequence1 – 142142Missing in isoform 3.
VSP_033139
Alternative sequence139 – 17436Missing in isoform 4.
VSP_033140
Alternative sequence269 – 2713GVV → DWK in isoform 2 and isoform 4.
VSP_033141
Alternative sequence272 – 380109Missing in isoform 2 and isoform 4.
VSP_033142
Natural variant381T → A. Ref.3 Ref.4
Corresponds to variant rs3818125 [ dbSNP | Ensembl ].
VAR_042725
Natural variant761R → Q. Ref.3 Ref.4
Corresponds to variant rs3818123 [ dbSNP | Ensembl ].
VAR_042726
Natural variant1771L → F.
Corresponds to variant rs12660881 [ dbSNP | Ensembl ].
VAR_042727
Natural variant2141V → I.
Corresponds to variant rs3192723 [ dbSNP | Ensembl ].
VAR_042728

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 1, 2000. Version 1.
Checksum: 69632427972521C3

FASTA38043,600
        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 

« Hide

Isoform 2 [UniParc].

Checksum: B39FD6515C79633A
Show »

FASTA27130,832
Isoform 3 [UniParc].

Checksum: B8C2ACF69435FAFB
Show »

FASTA23827,392
Isoform 4 [UniParc].

Checksum: 4C89C7FD0C90C2D8
Show »

FASTA23526,395

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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. expand/collapse author list , 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.
RefSeqNP_001107656.1. NM_001114184.1.
NP_061914.3. NM_019041.5.
XP_005267093.1. XM_005267036.2.
XP_005267094.1. XM_005267037.2.
UniGeneHs.225836.

3D structure databases

ProteinModelPortalQ9UGC7.
SMRQ9UGC7. Positions 49-378.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120010. 1 interaction.
STRING9606.ENSP00000356202.

PTM databases

PhosphoSiteQ9UGC7.

Polymorphism databases

DMDM74753314.

Proteomic databases

PaxDbQ9UGC7.
PRIDEQ9UGC7.

Protocols and materials databases

DNASU54516.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000367230; ENSP00000356199; ENSG00000112031. [Q9UGC7-4]
ENST00000367231; ENSP00000356200; ENSG00000112031. [Q9UGC7-2]
ENST00000367233; ENSP00000356202; ENSG00000112031. [Q9UGC7-1]
GeneID54516.
KEGGhsa:54516.
UCSCuc003qpi.4. human. [Q9UGC7-1]
uc003qpk.4. human. [Q9UGC7-4]
uc003qpl.4. human. [Q9UGC7-2]

Organism-specific databases

CTD54516.
GeneCardsGC06M153308.
H-InvDBHIX0006308.
HGNCHGNC:21051. MTRF1L.
HPAHPA036367.
MIM613542. gene.
neXtProtNX_Q9UGC7.
PharmGKBPA134870441.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0216.
HOVERGENHBG017071.
InParanoidQ9UGC7.
KOK02835.
OMAENEITSC.
OrthoDBEOG7DRJ33.
PhylomeDBQ9UGC7.
TreeFamTF313720.

Gene expression databases

ArrayExpressQ9UGC7.
BgeeQ9UGC7.
CleanExHS_MTRF1L.
GenevestigatorQ9UGC7.

Family and domain databases

Gene3D3.30.160.20. 1 hit.
InterProIPR014720. dsRNA-bd_dom.
IPR005139. PCRF.
IPR000352. Pep_chain_release_fac_I_II.
[Graphical view]
PfamPF03462. PCRF. 1 hit.
PF00472. RF-1. 1 hit.
[Graphical view]
SMARTSM00937. PCRF. 1 hit.
[Graphical view]
PROSITEPS00745. RF_PROK_I. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiMTRF1L.
GenomeRNAi54516.
NextBio56904.
PROQ9UGC7.
SOURCESearch...

Entry information

Entry nameRF1ML_HUMAN
AccessionPrimary (citable) accession number: Q9UGC7
Secondary accession number(s): B3KTA0 expand/collapse secondary AC list , Q3KR06, Q5TF44, Q5TF50, Q96CC5, Q96EX4, Q96K40
Entry history
Integrated into UniProtKB/Swiss-Prot: April 29, 2008
Last sequence update: May 1, 2000
Last modified: April 16, 2014
This is version 91 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM