Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q9UGC7

- RF1ML_HUMAN

UniProt

Q9UGC7 - RF1ML_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

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

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
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiQ9UGC7.
CleanExiHS_MTRF1L.
ExpressionAtlasiQ9UGC7. baseline and differential.
GenevestigatoriQ9UGC7.

Organism-specific databases

HPAiHPA036367.

Interactioni

Protein-protein interaction databases

BioGridi120010. 3 interactions.
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.
GeneTreeiENSGT00390000011879.
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

        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:
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]
CCDS75540.1. [Q9UGC7-4]
RefSeqiNP_001107656.1. NM_001114184.1. [Q9UGC7-2]
NP_061914.3. NM_019041.5. [Q9UGC7-1]
XP_005267093.1. XM_005267036.2. [Q9UGC7-3]
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 ]
CCDS75540.1. [Q9UGC7-4 ]
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 ]
UniGenei Hs.225836.

3D structure databases

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

Protein-protein interaction databases

BioGridi 120010. 3 interactions.
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.
GeneTreei ENSGT00390000011879.
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

Bgeei Q9UGC7.
CleanExi HS_MTRF1L.
ExpressionAtlasi Q9UGC7. baseline and differential.
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

« 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: October 29, 2014
This is version 95 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