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Aliases &
Descriptions
for TUFM gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase)
About This Section
User Feedback | | Aliases & Descriptions |
|---|
| Tu translation elongation factor, mitochondrial1 2 | | EF-Tu2 3 | | EFTU1 2 5 | | COXPD42 5 | | EF-TuMT1 2 | | EFTu1 | | P432 3 | | elongation factor Tu, mitochondrial2 |
Search outside databases for aliases for TUFM genePrevious GC identifers: GC16U990059 GC16M029177 GC16M028851 GC16M028891 GC16M028761 |
Summaries
for TUFM gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
User Feedback | Entrez Gene summary for TUFM:
This gene encodes a protein which participates in protein translation in mitochondria. Mutations in this gene have beenassociated with combined oxidative phosphorylation deficiency resulting in lactic acidosis and fatal encephalopathy. Apseudogene has been identified on chromosome 17. (provided by RefSeq)
UniProtKB/Swiss-Prot: EFTU_HUMAN, P49411Function: This protein promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during proteinbiosynthesis
Gene Wiki entry for TUFM |
Genomic Views
for TUFM gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl (release 56),
Regulatory elements and Epigenetics data according to
SABiosciences)
About This Section
User Feedback | Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the TUFM gene upstream (promoter) region  :
Elk-1 c-Rel NRSF form 1 NRSF form 2 AREB6 ER-alpha POU3F2 POU3F2 (N-Oct-5a) POU3F2 (N-Oct-5b) MZF-1
Epigenetics:
SABiosciences Methyl-Profiler DNA Methylation qPCR Primer Assays for TUFM: 
MePH20464-1A
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 16p11.2 Ensembl cytogenetic band: 16p11.2 HGNC cytogenetic band: 16p11.2TUFM 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 16 GeneLoc Exon Structure GeneLoc location for GC16M028853: view genomic region
(about GC identifiers)
Start:
|
28,853,732 bp from pter |
End:
|
28,857,729 bp from pter |
Size:
|
3,998 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000016.9 NT_010393.16
| Proteins
for TUFM gene
(According to
1UniProtKB,
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,
Enzo Life Sciences,
Abnova,
OriGene,
Novus Biologicals, and/or
Sino Biological,
Biochemical Assays by
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 May 2010 and
Entrez Gene,
Antibodies by
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abnova,
OriGene,
Novus Biologicals, and/or
Epitomics)
About This Section
User Feedback | UniProtKB/Swiss-Prot: EFTU_HUMAN, P49411 (See
protein sequence)Recommended Name: Elongation factor Tu, mitochondrial precursor Size: 452 amino acids; 49542 Da
Subcellular location: Mitochondrion
Sequence caution: Sequence=AAC60647.1; Type=Erroneous initiation; Sequence=AAH01633.2; Type=Erroneous initiation;Sequence=AAH10041.2; Type=Erroneous initiation;
Secondary accessions: O15276 Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_003312.3
ENSEMBL proteins: ENSP00000322439
Human Recombinant Proteins
3 Gene Ontology (GO) cellular component terms (GO ID links to tree view): About this table
TUFM for ontologies About GeneDecksing
Antibodies for TUFM:
Assays for TUFM: | Protein
Domains/
Families
for TUFM gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
User Feedback |
TUFM for domains About GeneDecksing
5/6 InterPro domains/families (see all 6
):Graphical View of Domain Structure for InterPro Entry P49411ProtoNet protein and cluster: P49411 1 Blocks protein family: IPB004160 Elongation factor Tu
UniProtKB/Swiss-Prot: EFTU_HUMAN, P49411Similarity: Belongs to the GTP-binding elongation factor family. EF-Tu/EF-1A subfamily | Gene Function
for TUFM gene
(According to MGI May 08 2010, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Millipore,
Abnova,
siRNAs from
Applied Biosystems,
Sigma-Aldrich, Clones from
Millipore,
Sigma-Aldrich,
OriGene,
Sino Biological,
Ontologies according to Gene Ontology Consortium 01 May 2010 via
Entrez Gene.)
About This Section
User Feedback | UniProtKB/Swiss-Prot: EFTU_HUMAN, P49411Function: This protein promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during proteinbiosynthesisGenatlas biochemistry entry for TUFM:mitochondrial elongation factor EF-Tu 5 Gene Ontology (GO) molecular function terms (GO ID links to tree view): About this table
TUFM for ontologies About GeneDecksing
| Pathways & Interactions
for TUFM gene
(Pathways according to
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
Applied Biosystems GeneAssist,
KEGG
and/or UniProtKB,
(map by GeneGo),
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 May 2010 via
Entrez Gene).
About This Section
User Feedback | SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TUFM
3 Interacting proteins for TUFM (P494111, 2 ENSP000003224393) via UniProtKB, MINT, and/or STRING About this table
1 Gene Ontology (GO) biological process term (GO ID links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006414 | translational elongation |
IDA | 9332382 |
About this table
TUFM for ontologies About GeneDecksing
|
Drugs & Compounds
for TUFM 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
User Feedback |
TUFM for compounds About GeneDecksing
 Browse Tocris compounds for TUFM
10/51  Novoseek chemical compound relationships for TUFM gene (see all 51
)
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| gtp |
55.31 |
42 |
7525272 (4), 1550822 (4), 7957075 (3), 9857203 (2) (see all 28) |
| kirromycin |
52.04 |
18 |
7525272 (5), 2050625 (5), 9066762 (1), 8899707 (1) (see all 10) |
| aminoacyl-trna |
46.95 |
24 |
6386466 (2), 3139078 (2), 16167337 (2), 10801827 (2) (see all 20) |
| pulvomycin |
8.79 |
3 |
7957075 (2), 6890473 (1) |
| ge2270a |
8.40 |
3 |
9016775 (1), 8899707 (1), 12370016 (1) |
| gdp |
8.12 |
7 |
11045624 (2), 8765000 (1), 7781781 (1), 2207145 (1) (see all 6) |
| mant-gdp |
6.49 |
2 |
11045624 (2) |
| aurodox |
5.57 |
2 |
6782099 (1), 12370016 (1) |
| thiostrepton |
4.00 |
2 |
795651 (2) |
| fluorescein thiosemicarbazide |
3.33 |
1 |
6338919 (1) |
About this table
|
Transcripts
for TUFM gene(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 223 Homo sapiens; Apr 2 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
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 and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
microRNA from SABiosciences,
Tagged/untagged cDNA clones from
OriGene,
Primers from
OriGene and/or
SABiosciences,
Expression Assays from Applied Biosystems)
About This Section
User Feedback | Assays:  Applied Biosystems TaqMan® Gene Expression Assays: NM_003321
| Clones: |  | Origene GFP tagged cDNA clones in CMV expression vector: TUFM
Origene Myc/DDK tagged cDNA clones in CMV expression vector: TUFM
Origene untagged cDNA clones in CMV expression vector: TUFM
|
| Primers: | | Origene genome-wide validated SYBR primer pairs: TUFM
| | | SABiosciences RT2 qPCR Primer Assay for TUFM: PPH07824A |
REFSEQ mRNAs for TUFM gene: NM_003321.4 Additional cDNA sequence: BC001633.1 BC010041.2 CR593603.1 CR608035.1 CR609861.1 CR615703.1 CR621980.1 L38995.1 S75463.1 X84694.1 24/33 DOTS entries (see all 33
): DT.102843682 DT.95316969 DT.99992319 DT.40314238 DT.100887032 DT.91865386 DT.120696948 DT.97867088 DT.120698145 DT.100887018 DT.100887041 DT.120697236 DT.100887035 DT.91943661 DT.120695443 DT.97862347 DT.102843715 DT.100887039 DT.87017312 DT.92005964 DT.120695409 DT.100887036 DT.97849808 DT.99991591 24/908 AceView cDNA sequences (see all 908
): AW574771 BM759784 BU856718 CN485026 BX481939 BM770553 BG675740 BU170090 BM982613 AW406807 BX364717 AI417506 BG396674 BU944836 BU543674 L38995 BQ652914 CB144552 BQ648284 CF265069 BM744378 BU174046 BM758862 BQ219050
 highest scoring ESTs for TUFM:AA218531 AA300386 AA312747 AV749488 AW574771 AW575188 BC001633 BC010041 BE254394 BE254798 Unigene Cluster for TUFM: Tu translation elongation factor, mitochondrial Hs.12084 [show with all ESTs]Unigene Representative Sequence: NM_003321
GeneLoc Exon Structure
5/6 Alternative Splicing Database (ASD) splice patterns (SP) for TUFM (see all 6
)
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5a | · | 5b | · | 5c | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | |
| SP2: | | | | | | | | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | - | | - | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
About this scheme
ECgene alternative splicing isoforms for TUFM
1 Ensembl transcript including schematic representation: ENST00000313511
|
Expression
for TUFM 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 223 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems,
Primers from
OriGene and/or
SABiosciences
)
About This Section
User Feedback | TUFM expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for TUFM
1 / 2 / 3 6 probe-sets matching TUFM gene
Affymetrix
probe-set |
Array |
GeneAnnot data |
GeneNote data |
GeneTide data |
| # genes |
Sensitivity |
Specificity |
Correlation |
Length |
Gb_Accession |
Consensus |
Uniqueness |
Score |
Rank |
| 39867_at2, 3
|
U95-A |
1 |
1.00 |
1.00 |
0.85 |
1.05 |
S75463 |
0.80 |
1.00 |
0.91 |
1 |
| 92041_at2, 3
|
U95-D |
1 |
0.69 |
1.00 |
0.92 |
0.95 |
AI143752 |
0.60 |
1.00 |
0.82 |
1 |
| 201113_at2, 3
|
U133-A |
1 |
1.00 |
1.00 |
-- |
-- |
NM_003321 |
0.60 |
1.00 |
0.82 |
1 |
| 238190_at2, 3
|
U133-B |
1 |
0.55 |
1.00 |
-- |
-- |
AI143752 |
0.60 |
1.00 |
0.82 |
1 |
| 201113_at2
|
U133Plus2 |
1 |
1.00 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 238190_at2
|
U133Plus2 |
1 |
0.55 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
About this table
TUFM for expression About GeneDecksing
Data from
Genenote
(Publications) and GNF BioGPS
About these images
About these images
CGAP SAGE TAG: GCATAGGCTG
SOURCE GeneReport for Unigene cluster: Hs.12084
Expression variation in blood from EXPOLDB for TUFM | Primers: | | Origene genome-wide validated SYBR primer pairs: TUFM 
| | | SABiosciences RT2 qPCR Primer Assay for TUFM: PPH07824A |
|
Orthologs
for TUFM gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI May 08 2010,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
User Feedback |
Orthologs for TUFM gene from 5/25 species (see all 25
)
About this table Species with no ortholog for TUFM
ENSEMBL Gene Tree for TUFM | Paralogs
for TUFM gene(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
User Feedback | Paralogs for TUFM gene
- EEFSEC2
TUFM for paralogs About GeneDecksing
Pseudogenes
- 1 related pseudogene
|
Genomic Variants
for TUFM 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,
Genotyping Reagents from
Applied Biosystems)
About This Section
User Feedback |
HapMap Linkage Disequilibrium images for TUFM (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for TUFM
1 CNV: 3999 |
Disorders & Mutations
for TUFM gene
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
LSDB, HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
User Feedback |
TUFM for disorders About GeneDecksing
OMIM: 602389 disorders: 610678 UniProtKB/Swiss-Prot: EFTU_HUMAN, P49411
Defects in TUFM are the cause of combined oxidative phosphorylation deficiency type 4 (COXPD4) [MIM:610678].COXPD4 is characterized by neonatal lactic acidosis, rapidly progressive encephalopathy, severely decreasedmitochondrial protein synthesis, and combined deficiency of mtDNA-related mitochondrial respiratory chain complexes
10 Novoseek disease relationships for TUFM gene
About this table
1 PharmGKB disease relationship for TUFM geneAbout this table
Human Gene Mutation Database: TUFM
|
Medical News
for TUFM gene(Possibly Related Articles in
Doctor's Guide)
About This Section
User Feedback | -- |
Publications
for TUFM gene (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
User Feedback | 10/81 PubMed articles for TUFM gene (see all 81
):- The human mitochondrial elongation factor Tu (EF-Tu) gene: cDNA sequence, genomic localization, genomic structure, and identification of a pseudogene. (PubMed id 9332382)2, 3, 4 Ling M....Robinson B.H. (1997)
- Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. (PubMed id 17160893)1, 3, 4 Valente L....Zeviani M. (2007)
- Chromosomal locations of three human nuclear genes (RPSM12, TUFM, and AFG3L1) specifying putative components of the mitochondrial gene expression apparatus. (PubMed id 9545647)1, 2, 3 Shah Z.H....Jacobs H.T. (1998)
- A mitochondrial elongation factor-like protein is over-expressed in tumours and differentially expressed in normal tissues. (PubMed id 7828719)1, 3, 4 Wells J.... Koshy R. (1995)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)3, 4 Gevaert K.... Vandekerckhove J. (2003)
- Cloning, sequence analysis and expression of mammalian mitochondrial protein synthesis elongation factor Tu. (PubMed id 8547323)3, 4 Woriax V.L.... Spremulli L.L. (1995)
- 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, 3 Antonicka H....Shoubridge E.A. (2006)
- Lysine acetylation targets protein complexes and co-regulates major cellular functions. (PubMed id 19608861)4 Choudhary C.... Mann M. (2009)
- The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2. (PubMed id 18753147)3 Sasarman F....Shoubridge E.A. (2008)
|
Search for TUFM gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
User Feedback |
|
Genome Databases showing TUFM gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
User Feedback |
| Other Databases showing TUFM gene
(According to HUGE)
About This Section
User Feedback | -- |
Specialized Databases showing TUFM 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
User Feedback |
| About This Section
User Feedback | Patent Information for TUFM gene:
Search GeneIP for patents involving TUFM
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
| Services
for TUFM gene(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Novus Biologicals,
Epitomics, Sigma-Aldrich, R&D Systems, SABiosciences, Millipore, Abnova,
Clones available from OriGene, Sigma-Aldrich, Sino Biological, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience)
About This Section
User Feedback | 
Products for TUFM:
 | |
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| |  | Search Tocris compounds for TUFM |
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