TSFM Gene
protein-coding GIFtS: 52
GCID: GC12P058176
|
|
Ts translation elongation factor, mitochondrial
| |
Aliases
for TSFM gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Ts Translation Elongation Factor, Mitochondrial1 2 | | Elongation Factor Ts, Mitochondrial2 | | EF-TS1 | | Mitochondrial Elongation Factor Ts2 | | EF-Tsmt1 | | EF-Ts3 | | EFTS2 | | EF-TsMt3 | | EFTSMT2 | | COXPD35 |
Export aliases for TSFM gene to outside databasesPrevious GC identifers: GC12P057778 GC12P058319 GC12P057893 GC12P056462 GC12P058167 GC12P055213 |
Summaries
for TSFM gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for TSFM:
This gene encodes a mitochondrial translation elongation factor. The encoded protein is an enzyme that catalyzes theexchange of guanine nucleotides on the translation elongation factor Tu during the elongation step of mitchondrialprotein translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-3syndrome. Alternate splicing results in multiple transcript variants.(provided by RefSeq, Mar 2010)
UniProtKB/Swiss-Prot: EFTS_HUMAN, P43897Function: Associates with the EF-Tu.GDP complex and induces the exchange of GDP to GTP. It remains bound to theaminoacyl-tRNA.EF-Tu.GTP complex up to the GTP hydrolysis stage on the ribosome (By similarity)
Gene Wiki entry for TSFM
|
Genomic Views
for TSFM 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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000012.11 NC_018923.1 NT_029419.12
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the TSFM gene promoter:
CREB deltaCREB C/EBPalpha
Other transcription factors
Search SABiosciences Chromatin IP Primers for TSFM
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TSFM |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 12q14.1 Ensembl cytogenetic band: 12q14.1 HGNC cytogenetic band: 12q14.1TSFM Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 12 GeneLoc Exon Structure GeneLoc location for GC12P058176: view genomic region
(about GC identifiers)
Start:
|
58,176,372 bp from pter |
End:
|
58,201,854 bp from pter |
Size:
|
25,483 bases |
Orientation:
|
plus strand |
|
Proteins
for TSFM gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: EFTS_HUMAN, P43897 (See
protein sequence)Recommended Name: Elongation factor Ts, mitochondrial precursor Size: 325 amino acids; 35391 Da
Subcellular location: Mitochondrion
1 PDB 3D structure from  and Proteopedia  for TSFM:2CP9 (3D)
Secondary accessions: B4E391 F5H2T7 Q561V7 Q8TBC2 Q9UQK0Alternative splicing: 4 isoforms: P43897-1 P43897-2 P43897-3 P43897-4 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for TSFM: NX_P43897
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P43897
TSFM Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (4 alternative transcripts):
NP_001166166.1 NP_001166167.1 NP_001166168.1 NP_005717.3
ENSEMBL proteins: ENSP00000388330 ENSP00000313877 ENSP00000406339 ENSP00000448575 ENSP00000450041 ENSP00000390679 ENSP00000389162 ENSP00000439342 ENSP00000440987 ENSP00000242983
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
TSFM for ontologies About GeneDecksing
TSFM Antibody Products:
Assay Products for TSFM: |
Protein
Domains /
Families
for TSFM gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
TSFM for domains About GeneDecksing
5 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P43897ProtoNet protein and cluster: P43897 1 Blocks protein family: IPB014039 Translation elongation factor EFTs/EF1B
UniProtKB/Swiss-Prot: EFTS_HUMAN, P43897Similarity: Belongs to the EF-Ts family |
Function
for TSFM gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: EFTS_HUMAN, P43897Function: Associates with the EF-Tu.GDP complex and induces the exchange of GDP to GTP. It remains bound to theaminoacyl-tRNA.EF-Tu.GTP complex up to the GTP hydrolysis stage on the ribosome (By similarity)
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TSFM (see all 4)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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Synthesis Service for TSFM | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TSFM |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TSFM |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003746 | translation elongation factor activity |
IEA | -- |
TSFM for ontologies About GeneDecksing
Animal Models:
3 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Tsfm):
TSFM for phenotypes About GeneDecksing
|
Pathways & Interactions
for TSFM gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TSFM
STRING Interaction
Network Preview (showing 5 interactants - click image to see 15)
5/21 Interacting proteins for TSFM (P438972, 3 ENSP000003883304) via UniProtKB, MINT, STRING, and/or I2D (see all 21)About this table
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table
TSFM for ontologies About GeneDecksing
|
Drugs & Compounds
for TSFM gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
TSFM for compounds About GeneDecksing
 Browse Tocris compounds for TSFM
1 HMDB Compound for TSFM About this table
5 Novoseek chemical compound relationships for TSFM gene About this table
Search CenterWatch for drugs/clinical trials and news about TSFM / EFTS
|
Transcripts
for TSFM gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for TSFM gene (4 alternative transcripts): NM_001172695.1 NM_001172696.1 NM_001172697.1 NM_005726.5 Unigene Cluster for TSFM: Ts translation elongation factor, mitochondrial Hs.632704 [show with all ESTs]Unigene Representative Sequence: NM_00117269611 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000454289(uc001sqh.3 uc001sqi.3 uc010sse.2) ENST00000323833
ENST00000417094 ENST00000550559 ENST00000548851 ENST00000434359 ENST00000457189
ENST00000497617 ENST00000543727(uc021qzq.1) ENST00000540550(uc010ssf.2)
ENST00000350762
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TSFM (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TSFM (see all 4)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 4): TSFM (NM_005726) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TSFM | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TSFM |
Additional cDNA sequence: AF110399.1 AK295323.1 AK304621.1 AK308981.1 AK313453.1 BC022862.1 BC093068.1 L37936.1 16 DOTS entries: DT.112342 DT.100787388 DT.102841113 DT.100787386 DT.91714740 DT.100787387 DT.121200918 DT.100787389 DT.100787390 DT.121200921 DT.443182 DT.121200899 DT.121200947 DT.437665 DT.92352317 DT.95128382 24/276 AceView cDNA sequences (see all 276): NM_015433 BE252419 CK823940 BM699533 CA311578 CA447783 AI421785 AI807755 AI359125 AU143121 CD109202 AU122778 CR622683 BX386668 BM511747 BU521157 BU618940 AI418647 CD367293 BQ644756 CR592271 AI633093 BQ923269 BU618769
GeneLoc Exon Structure
5 Alternative Splicing Database (ASD) splice patterns (SP) for TSFM About this scheme
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | · | 8c |
|---|
|
| SP1: | | | | | | | | | - | | - | | | | - | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | - | | - | | | | - | | | | | | - | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | |
| SP4: | | | | | | | | | | | - | | | | - | | | | | | - | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | - | | | | | | - | | | | | | | | | |
ECgene alternative splicing isoforms for TSFM
|
Expression
for TSFM gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| TSFM expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGTAAAATTA
About this image
See TSFM Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TSFM
SOURCE GeneReport for Unigene cluster: Hs.632704
UniProtKB/Swiss-Prot: EFTS_HUMAN, P43897Tissue specificity: Expressed in all tissues, with the highest levels of expression in skeletal muscle, liver andkidney
SABiosciences Custom PCR Arrays for TSFM
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TSFM
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TSFM |
Orthologs
for TSFM gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the last universal common ancestor (LUCA).
Orthologs for TSFM gene from 9/28 species (see all 28) About this table
ENSEMBL Gene Tree for TSFM (if available)
TreeFam Gene Tree for TSFM (if available) |
Paralogs
for TSFM gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for TSFM gene
- ENSG000002579212
TSFM for paralogs About GeneDecksing
|
Genomic Variants
for TSFM gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 12 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for TSFM (58176372 - 58201854 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for TSFM: --
Human Gene Mutation Database (HGMD): TSFM
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TSFM |
|
Disorders
/ Diseases
for TSFM gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
TSFM for disorders About GeneDecksing
OMIM gene information: 604723
OMIM disorders: 610505
UniProtKB/Swiss-Prot: EFTS_HUMAN, P43897
Defects in TSFM are the cause of combined oxidative phosphorylation deficiency type 3 (COXPD3) [MIM:610505].Defects in the mitochondrial oxidative phosphorylation system result in devastating, mainly multisystem, diseases.COXPD3 symptoms include severe metabolic acidosis with encephalomyopathy or with hypertrophic cardiomyopathy. Patientsshow a severe defect in mitochondrial translation leading to a failure to assemble adequate amounts of three of theoxidative phosphorylation complexes
12  diseases for TSFM: About MalaCardscombined oxidative phosphorylation deficiency combined oxidative phosphorylation deficiency 3 atypical lipomatous tumor scrub typhus
mitochondrial encephalomyopathy q fever encephalomyopathy typhus
pneumonia tuberculosis malaria mycobacterium tuberculosis
Human Genome Epidemiology (HuGE) Navigator: TSFM (1 document)
Export disorders for TSFM gene to outside databases
|
Publications
for TSFM gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for TSFM gene, integrated from 9 sources (see all 48):
(articles sorted by number of sources associating them with TSFM) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Cloning and expression of mitochondrial translational elongation factor Ts from bovine and human liver. (PubMed id 7615523)1, 2, 3, 9 Xin H.... Spremulli L.L. (1995)
- Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs. (PubMed id 17033963)1, 2, 9 Smeitink J.A.M....Shoubridge E.A. (2006)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1. (PubMed id 16632485)1, 9 Antonicka H....Shoubridge E.A. (2006)
- A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
- Mutation in the mitochondrial translation elongation f actor EFTs results in severe infantile liver failure. (PubMed id 21741925)1 Vedrenne V....Rotig A. (2012)
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
- A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
- Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
|
External Searches for TSFM gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing TSFM gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing TSFM gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing TSFM gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for TSFM | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TSFM |
|
| | |
About This Section
| Patent Information for TSFM gene:
Search GeneIP for patents involving TSFM
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for TSFM gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat TSFM | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TSFM | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TSFM | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TSFM | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TSFM | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TSFM |
| |
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| |  |  |  |  | | | | |
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 | | | TSFM Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TSFM |
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| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TSFM |
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