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Q9UGC7

- RF1ML_HUMAN

UniProt

Q9UGC7 - RF1ML_HUMAN

Protein

Peptide chain release factor 1-like, mitochondrial

Gene

MTRF1L

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 94 (01 Oct 2014)
      Sequence version 1 (01 May 2000)
      Previous versions | rss
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    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

    1. translation release factor activity, codon specific Source: InterPro

    Keywords - Biological processi

    Protein biosynthesis

    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: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:21051. MTRF1L.

    Subcellular locationi

    Mitochondrion 1 Publication

    GO - Cellular componenti

    1. mitochondrion Source: LIFEdb

    Keywords - Cellular componenti

    Mitochondrion

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134870441.

    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

    ArrayExpressiQ9UGC7.
    BgeeiQ9UGC7.
    CleanExiHS_MTRF1L.
    GenevestigatoriQ9UGC7.

    Organism-specific databases

    HPAiHPA036367.

    Interactioni

    Protein-protein interaction databases

    BioGridi120010. 1 interaction.
    STRINGi9606.ENSP00000356202.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UGC7.
    SMRiQ9UGC7. Positions 49-378.
    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.
    HOVERGENiHBG017071.
    InParanoidiQ9UGC7.
    KOiK02835.
    OMAiRINKTLH.
    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. Align

    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

    MRSRVLWGAA RWLWPRRAVG PARRPLSSGS PPLEELFTRG GPLRTFLERQ    50
    AGSEAHLKVR RPELLAVIKL LNEKERELRE TEHLLHDENE DLRKLAENEI 100
    TLCQKEITQL KHQIILLLVP SEETDENDLI LEVTAGVGGQ EAMLFTSEIF 150
    DMYQQYAAFK RWHFETLEYF PSELGGLRHA SASIGGSEAY RHMKFEGGVH 200
    RVQRVPKTEK QGRVHTSTMT VAILPQPTEI NLVINPKDLR IDTKRASGAG 250
    GQHVNTTDSA VRIVHLPTGV VSECQQERSQ LKNKELAMTK LRAKLYSMHL 300
    EEEINKRQNA RKIQIGSKGR SEKIRTYNFP QNRVTDHRIN KTLHDLETFM 350
    QGDYLLDELV QSLKEYADYE SLVEIISQKV 380
    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:
    EMBL
    GenBank
    DDBJ
    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]
    RefSeqiNP_001107656.1. NM_001114184.1. [Q9UGC7-2]
    NP_061914.3. NM_019041.5. [Q9UGC7-1]
    XP_005267093.1. XM_005267036.2. [Q9UGC7-3]
    XP_005267094.1. XM_005267037.2. [Q9UGC7-4]
    UniGeneiHs.225836.

    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]

    Polymorphism databases

    DMDMi74753314.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS47502.1. [Q9UGC7-2 ]
    CCDS5243.1. [Q9UGC7-1 ]
    RefSeqi NP_001107656.1. NM_001114184.1. [Q9UGC7-2 ]
    NP_061914.3. NM_019041.5. [Q9UGC7-1 ]
    XP_005267093.1. XM_005267036.2. [Q9UGC7-3 ]
    XP_005267094.1. XM_005267037.2. [Q9UGC7-4 ]
    UniGenei Hs.225836.

    3D structure databases

    ProteinModelPortali Q9UGC7.
    SMRi Q9UGC7. Positions 49-378.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120010. 1 interaction.
    STRINGi 9606.ENSP00000356202.

    PTM databases

    PhosphoSitei Q9UGC7.

    Polymorphism databases

    DMDMi 74753314.

    Proteomic databases

    MaxQBi Q9UGC7.
    PaxDbi Q9UGC7.
    PRIDEi Q9UGC7.

    Protocols and materials databases

    DNASUi 54516.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000367230 ; ENSP00000356199 ; ENSG00000112031 . [Q9UGC7-4 ]
    ENST00000367231 ; ENSP00000356200 ; ENSG00000112031 . [Q9UGC7-2 ]
    ENST00000367233 ; ENSP00000356202 ; ENSG00000112031 . [Q9UGC7-1 ]
    GeneIDi 54516.
    KEGGi hsa:54516.
    UCSCi uc003qpi.4. human. [Q9UGC7-1 ]
    uc003qpk.4. human. [Q9UGC7-4 ]
    uc003qpl.4. human. [Q9UGC7-2 ]

    Organism-specific databases

    CTDi 54516.
    GeneCardsi GC06M153308.
    H-InvDB HIX0006308.
    HGNCi HGNC:21051. MTRF1L.
    HPAi HPA036367.
    MIMi 613542. gene.
    neXtProti NX_Q9UGC7.
    PharmGKBi PA134870441.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0216.
    HOVERGENi HBG017071.
    InParanoidi Q9UGC7.
    KOi K02835.
    OMAi RINKTLH.
    OrthoDBi EOG7DRJ33.
    PhylomeDBi Q9UGC7.
    TreeFami TF313720.

    Miscellaneous databases

    GeneWikii MTRF1L.
    GenomeRNAii 54516.
    NextBioi 56904.
    PROi Q9UGC7.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UGC7.
    Bgeei Q9UGC7.
    CleanExi HS_MTRF1L.
    Genevestigatori Q9UGC7.

    Family and domain databases

    Gene3Di 3.30.160.20. 1 hit.
    InterProi IPR014720. dsRNA-bd_dom.
    IPR005139. PCRF.
    IPR000352. Pep_chain_release_fac_I_II.
    [Graphical view ]
    Pfami PF03462. PCRF. 1 hit.
    PF00472. RF-1. 1 hit.
    [Graphical view ]
    SMARTi SM00937. PCRF. 1 hit.
    [Graphical view ]
    PROSITEi PS00745. RF_PROK_I. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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: October 1, 2014
    This is version 94 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