Aliases &
Descriptions
for MTRF1L gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase)
About This Section
|
| Aliases & Descriptions |
|---|
| mitochondrial translational release factor 1-like1 2 3 | | mitochondrial release factor 1 like2 | | mtRF1a2 3 | | OTTHUMP000000174582 | | MGC1027482 | | MRF1L2 | | HMRF1L2 | | peptide chain release factor 1-like, mitochondrial2 | | OTTHUMP000000174572 | | MTRF1A3 |
Export aliases for MTRF1L gene to outside databasesPrevious GC identifers: GC06M153264 GC06M153340 GC06M153401 GC06M153351 GC06M153308 |
Summaries
for MTRF1L gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for MTRF1L:
Mitochondrial DNA encodes 13 proteins that play essential roles in the respiratory chain, while all proteins involvedin mitochondrial translation are encoded by nuclear genes that are imported from the cytoplasm. MTRF1L is anuclear-encoded protein that functions as a releasing factor that recognizes termination codons and releasesmitochondrial ribosomes from the synthesized protein (summary by Nozaki et al., 2008 (PubMed 18429816)).(supplied byOMIM)
UniProtKB/Swiss-Prot: RF1ML_HUMAN, Q9UGC7Function: Mitochondrial peptide chain release factor that directs the termination of translation in response to thepeptide chain termination codons UAA and UAG
|
Genomic Views
for MTRF1L gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 60),
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences)
About This Section
|
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the MTRF1L gene promoter:
RORalpha2 POU3F2 POU3F2 (N-Oct-5b) POU3F2 (N-Oct-5a) FOXD1 POU2F1 FOXF2 FOXL1 GATA-1 FOXJ2 (long isoform)
Other transcription factors
Search SABiosciences Chromatin IP Primers for MTRF1L
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for MTRF1L  |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 6q25-q26 Ensembl cytogenetic band: 6q25.2 HGNC cytogenetic band: 6q25-q26MTRF1L Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc gene densities for chromosome 6 GeneLoc Exon Structure GeneLoc location for GC06M150871: view genomic region
(about GC identifiers)
Start:
|
150,871,194 bp from pter |
End:
|
150,886,723 bp from pter |
Size:
|
15,530 bases |
Orientation:
|
minus strand |
1 alternative location:
| Chr6- 153,308,497-153,323,820 |
RefSeq DNA sequence:- NC_000006.11 NT_025741.15
|
Proteins
for MTRF1L gene
(According to
1UniProtKB,
neXtProt,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological, and/or
ProSpec,
Biochemical Assays by
Millipore,
Sigma-Aldrich,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene,
Antibodies by
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals, and/or
Epitomics)
About This Section
|
UniProtKB/Swiss-Prot: RF1ML_HUMAN, Q9UGC7 (See
protein sequence)Recommended Name: Peptide chain release factor 1-like, mitochondrial precursor Size: 380 amino acids; 43600 Da
Subcellular location: Mitochondrion
Secondary accessions: B3KTA0 Q3KR06 Q5TF44 Q5TF50 Q96CC5 Q96EX4 Q96K40Alternative splicing: 4 isoforms: Q9UGC7-1 Q9UGC7-2 Q9UGC7-3 Q9UGC7-4 Explore the universe of human proteins at neXtProt for MTRF1L: NX_Q9UGC7
Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins (2 alternative transcripts):
NP_001107656.1 NP_061914.3
ENSEMBL proteins: ENSP00000415113 ENSP00000356202 ENSP00000414383 ENSP00000356200 ENSP00000356199
Human Recombinant Proteins
2 Gene Ontology (GO) cellular component terms (GO ID links to tree view): About this table
MTRF1L for ontologies About GeneDecksing
Antibodies for MTRF1L:
Assays for MTRF1L: |
Protein
Domains/
Families
for MTRF1L gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
MTRF1L for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9UGC7ProtoNet protein and cluster: Q9UGC7 1 Blocks protein family: IPB000352 Class I peptide chain release factor domain
UniProtKB/Swiss-Prot: RF1ML_HUMAN, Q9UGC7Similarity: Belongs to the prokaryotic/mitochondrial release factor family |
Gene Function
for MTRF1L gene
(According to UniProtKB,
IUBMB,and/or
Genatlas, Animal models from MGI Dec 24 2010,
shRNA from
OriGene,
Sigma-Aldrich,
RNAi from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Clones from Millipore,
Sigma-Aldrich,
OriGene,
GenScript,
Sino Biological,
Cell Lines from GenScript,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene.)
About This Section
|
UniProtKB/Swiss-Prot: RF1ML_HUMAN, Q9UGC7Function: Mitochondrial peptide chain release factor that directs the termination of translation in response to thepeptide chain termination codons UAA and UAG
2 Gene Ontology (GO) molecular function terms (GO ID links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003747 | translation release factor activity |
-- | -- | | GO:0016149 | translation release factor activity, codon specific |
IEA | -- |
About this table
MTRF1L for ontologies About GeneDecksing
|
Pathways & Interactions
for MTRF1L gene
(Pathways according to
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
PCR Arrays from
SABiosciences,
Proteins Network according to
SABiosciences,
Sigma-Aldrich,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene).
About This Section
|
SABiosciences Custom Pathway-Focused PCR Arrays for MTRF1L
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MTRF1L
1 Gene Ontology (GO) biological process term (GO ID links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006415 | translational termination |
IEA | -- |
About this table
MTRF1L for ontologies About GeneDecksing
|
Drugs & Compounds
for MTRF1L gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
 Browse Tocris compounds for MTRF1L
|
Transcripts
for MTRF1L gene(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Tagged/untagged cDNA clones from
OriGene,
Sigma-Aldrich,
GenScript,
Primers from
OriGene and/or
SABiosciences)
About This Section
|
REFSEQ mRNAs for MTRF1L gene (2 alternative transcripts): NM_001114184.1 NM_019041.5 Additional cDNA sequence: AK001037.1 AK027684.1 AK095240.1 AK225321.1 AK225970.1 AK290662.1 AK297671.1 AL049992.1 BC011873.2 BC014428.1 BC105973.1 CR607255.1 CR616466.1 22 DOTS entries: DT.97841761 DT.92428057 DT.100790932 DT.95174220 DT.95174222 DT.121396156 DT.100790930 DT.75153380 DT.205990 DT.95174221 DT.95118787 DT.121269434 DT.91952549 DT.99968141 DT.100790928 DT.75109609 DT.75110081 DT.121396047 DT.121396114 DT.91649607 DT.95133838 DT.95174223 24/206 AceView cDNA sequences (see all 206): CB129686 AI479199 AL523127 AW295335 AI333479 AI474350 CK903839 AI873974 BE155591 CB995736 AI434611 AK001037 BX423351 AI915742 BM556141 AW611867 BM994815 AI803987 AA282019 AI800244 CR616466 BC014428 BM838509 F35597
 highest scoring ESTs for MTRF1L:AK027684 AK095240 BC011873 BC014428 BG327831 BG482319 BM846401 BF304854 BM050698 BU859484 Unigene Cluster for MTRF1L: Mitochondrial translational release factor 1-like Hs.225836 [show with all ESTs]Unigene Representative Sequence: NM_019041
GeneLoc Exon Structure
11 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000482526 ENST00000464135(uc003qpj.3) ENST00000448966 ENST00000367233(uc003qpi.3 uc011efa.1)
ENST00000461949 ENST00000414771 ENST00000367231(uc003qpl.3) ENST00000485283
ENST00000485512 ENST00000463251 ENST00000367230(uc003qpk.3)
|
Expression
for MTRF1L gene
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 228 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Primers from
OriGene and/or
SABiosciences
)
About This Section
| MTRF1L expression in normal and diseased human tissues
1 / 2 / 3 9 probe-sets matching MTRF1L gene
Affymetrix
probe-set |
Array |
GeneAnnot data |
GeneNote data |
GeneTide data |
| # genes |
Sensitivity |
Specificity |
Correlation |
Length |
Gb_Accession |
Consensus |
Uniqueness |
Score |
Rank |
| 64910_at2, 3
|
U95-C |
1 |
1.00 |
1.00 |
0.95 |
1.10 |
AL042218 |
0.60 |
0.75 |
0.68 |
1 |
| 51109_at2, 3
|
U95-C |
1 |
1.00 |
1.00 |
0.41 |
0.92 |
AA761553 |
0.20 |
0.50 |
0.38 |
1 |
| 58450_s_at2, 3
|
U95-B |
1 |
1.00 |
1.00 |
0.90 |
1.14 |
AI479199 |
0.80 |
0.80 |
0.80 |
1 |
| 58701_g_at2, 3
|
U95-B |
3 |
1.00 |
0.93 |
0.91 |
0.91 |
AI382073 |
0.20 |
1.00 |
0.72 |
1 |
| 58699_at2, 3
|
U95-B |
2 |
1.00 |
0.81 |
0.96 |
0.95 |
AI382073 |
0.20 |
1.00 |
0.72 |
1 |
| 225215_s_at2, 3
|
U133-B |
1 |
1.00 |
1.00 |
-- |
-- |
BF665339 |
0.40 |
0.50 |
0.45 |
1 |
| 225206_s_at2, 3
|
U133-B |
1 |
1.00 |
1.00 |
-- |
-- |
AI479199 |
0.80 |
0.80 |
0.80 |
1 |
| 225215_s_at2
|
U133Plus2 |
1 |
1.00 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 225206_s_at2
|
U133Plus2 |
1 |
1.00 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
About this table
MTRF1L for expression About GeneDecksing
Data from
Genenote
(Publications) and GNF BioGPS
About these images
About these images
CGAP SAGE TAG: GTGAAGTCAG
SOURCE GeneReport for Unigene cluster: Hs.225836
Expression variation in blood from EXPOLDB for MTRF1L UniProtKB/Swiss-Prot: RF1ML_HUMAN, Q9UGC7Tissue specificity: Expressed in skeletal muscle (at protein level)
SABiosciences Custom PCR Arrays for MTRF1L
|
Orthologs
for MTRF1L gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Dec 24 2010,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for MTRF1L gene from 5/20 species (see all 20)
About this table Species with no ortholog for MTRF1L
ENSEMBL Gene Tree for MTRF1L (if available) |
Paralogs
for MTRF1L gene(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
| Paralogs for MTRF1L gene
- MTRF12
MTRF1L for paralogs About GeneDecksing
|
Genomic Variants
for MTRF1L gene(SNPs according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Chr 6 pos | Sequence | Recs | AA
Chg | Type | More | Recs | Allele
freq | Pop | Total
sample | More |
|---|
About this tableHapMap Linkage Disequilibrium images for MTRF1L (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for MTRF1L
3 CNVs: 94116 81659 94117 | | QIAGEN SeqTarget long-range PCR primers for resequencing MTRF1L |
|
Disorders & Mutations
for MTRF1L gene
(in which this Gene is Involved, According to
OMIM, UniProtKB,
PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
LSDB, HGMD, GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
MTRF1L for disorders About GeneDecksing
OMIM: 613542
Human Genome Epidemiology (HuGE) Navigator: MTRF1L (2 documents)
Export disorders and mutations for MTRF1L gene to outside databases
|
Medical News
for MTRF1L gene(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications
for MTRF1L gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6UniProtKB/TrEMBL, and/or
7Novoseek)
About This Section
|
10/16 PubMed articles for MTRF1L gene, integrated from 7 sources (see all 16):
(articles sorted by number of sources associating them with MTRF1L)- mtRF1a is a human mitochondrial translation release factor decoding the major termination codons UAA and UAG. (PubMed id 17803939)1, 2 Soleimanpour-Lichaei H.R....Chrzanowska-Lightowlers Z. (2007)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Mutations in C12orf65 in patients with encephalomyopa thy and a mitochondrial translation defect. (PubMed id 20598281)1 Antonicka H....Shoubridge E.A. (2010)
- Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
- HMRF1L is a human mitochondrial translation release factor involved in the decoding of the termination codons UAA and UAG. (PubMed id 18429816)1 Nozaki Y....Takeuchi N. (2008)
- The human mitochondrial translation release factor HMRF1L is methylated in the GGQ motif by the methyltransferase HMPrmC. (PubMed id 18541145)1 Ishizawa T....Takeuchi N. (2008)
- Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PubMed id 18978678)1 Vieira A.R....Marazita M.L. (2008)
- Global proteomic profiling of phosphopeptides using electron transfer dissociation tandem mass spectrometry. (PubMed id 17287340)2 Molina H.... Pandey A. (2007)
- hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
- Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
|
External Searches for MTRF1L gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing MTRF1L gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing MTRF1L gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing MTRF1L gene(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
|
About This Section
| Patent Information for MTRF1L gene:
Search GeneIP for patents involving MTRF1L
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for MTRF1L gene(Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or
Enzo Life Sciences)
About This Section
|
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| |  | Search Tocris compounds for MTRF1L |
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