Human Gene MTRF1 (uc001uyc.1)
  Description: Homo sapiens mitochondrial translational release factor 1 (MTRF1), nuclear gene encoding mitochondrial protein, mRNA.
RefSeq Summary (NM_004294): The protein encoded by this gene was determined by in silico methods to be a mitochondrial protein with similarity to the peptide chain release factors (RFs) discovered in bacteria and yeast. The peptide chain release factors direct the termination of translation in response to the peptide chain termination codons. Initially thought to have a role in the termination of mitochondria protein synthesis, a recent publication found no mitochondrial translation release functionality. Multiple alternatively spliced transcript variants have been suggested by mRNA and EST data; however, their full-length natures are not clear. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr13:41,808,026-41,835,506 Size: 27,481 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg19 chr13:41,808,027-41,835,043 Size: 27,017 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr13:41,808,026-41,835,506)mRNA (may differ from genome)Protein (329 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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neXtProtOMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RF1M_HUMAN
DESCRIPTION: RecName: Full=Peptide chain release factor 1, mitochondrial; Short=MRF-1; Short=MtRF-1; Flags: Precursor;
FUNCTION: Mitochondrial peptide chain release factor that directs the termination of translation in response to the peptide chain non-cognate termination stop codons AGG and AGA.
SUBCELLULAR LOCATION: Mitochondrion.
PTM: Methylation of glutamine in the GGQ triplet is conserved from bacteria to mammals (By similarity).
SIMILARITY: Belongs to the prokaryotic/mitochondrial release factor family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): MTRF1
CDC HuGE Published Literature: MTRF1

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6.60 RPKM in Testis
Total median expression: 133.89 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -156.70463-0.338 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005139 - PCRF
IPR000352 - Pep_chain_release_fac_I_II

Pfam Domains:
PF00472 - RF-1 domain
PF03462 - PCRF domain

SCOP Domains:
101288 - L27 domain
75620 - Release factor (Pfam 00472)

ModBase Predicted Comparative 3D Structure on O75570
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003747 translation release factor activity

Biological Process:
GO:0006412 translation
GO:0006415 translational termination
GO:0006449 regulation of translational termination

Cellular Component:
GO:0005739 mitochondrion


-  Descriptions from all associated GenBank mRNAs
  BC042196 - Homo sapiens mitochondrial translational release factor 1, mRNA (cDNA clone MGC:47721 IMAGE:5198308), complete cds.
AF072934 - Homo sapiens translational release factor 1 mRNA, nuclear gene encoding mitochondrial protein, complete cds.
BC065496 - Homo sapiens mitochondrial translational release factor 1, mRNA (cDNA clone IMAGE:5209394), partial cds.
AK055086 - Homo sapiens cDNA FLJ30524 fis, clone BRAWH2000926, highly similar to Peptide chain release factor 1, mitochondrial precursor.
AK294343 - Homo sapiens cDNA FLJ55831 complete cds, highly similar to Peptide chain release factor 1, mitochondrial precursor.
BC038427 - Homo sapiens cDNA clone IMAGE:4818961, containing frame-shift errors.
BC027731 - Homo sapiens mitochondrial translational release factor 1, mRNA (cDNA clone IMAGE:5020282), complete cds.
KJ902000 - Synthetic construct Homo sapiens clone ccsbBroadEn_11394 MTRF1 gene, encodes complete protein.
CU693290 - Synthetic construct Homo sapiens gateway clone IMAGE:100021832 5' read MTRF1 mRNA.
JD466379 - Sequence 447403 from Patent EP1572962.
JD156714 - Sequence 137738 from Patent EP1572962.
JD312194 - Sequence 293218 from Patent EP1572962.
JD379740 - Sequence 360764 from Patent EP1572962.
JD435496 - Sequence 416520 from Patent EP1572962.
JD480516 - Sequence 461540 from Patent EP1572962.
JD342282 - Sequence 323306 from Patent EP1572962.
JD522096 - Sequence 503120 from Patent EP1572962.
JD268329 - Sequence 249353 from Patent EP1572962.
JD322271 - Sequence 303295 from Patent EP1572962.
JD155498 - Sequence 136522 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: BC038427, NM_004294, NP_004285, O75570, Q5T6Y5, Q8IUQ6, RF1M_HUMAN
UCSC ID: uc001uyc.1
RefSeq Accession: NM_004294
Protein: O75570 (aka RF1M_HUMAN)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: BC038427.1
exon count: 6CDS single in 3' UTR: no RNA size: 2522
ORF size: 987CDS single in intron: no Alignment % ID: 99.80
txCdsPredict score: 1913.00frame shift in genome: no % Coverage: 57.49
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: no retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 455# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.