Human Gene TUFM (ENST00000313511.8_7) from GENCODE V47lift37

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Description: Tu translation elongation factor, mitochondrial, transcript variant 1 (from RefSeq NM_003321.5)
Gencode Transcript: ENST00000313511.8_7
Gencode Gene: ENSG00000178952.11_10
Transcript (Including UTRs)
Position: hg19 chr16:28,853,732-28,857,669 Size: 3,938 Total Exon Count: 10 Strand: -
Coding Region
Position: hg19 chr16:28,854,296-28,857,590 Size: 3,295 Coding Exon Count: 10

Page Index	Sequence and Links	UniProtKB Comments	Primers	MalaCards	CTD
Gene Alleles	RNA-Seq Expression	Microarray Expression	RNA Structure	Protein Structure	Other Species
GO Annotations	mRNA Descriptions	Pathways	Other Names	Model Information	Methods

Data last updated at UCSC: 2024-08-22 23:36:26

Sequence and Links to Tools and Databases

Genomic Sequence (chr16:28,853,732-28,857,669)			mRNA (may differ from genome)		Protein (455 aa)
Gene Sorter	Genome Browser	Other Species FASTA	VisiGene	Gene interactions	Table Schema
AlphaFold	BioGPS	Ensembl	Entrez Gene	ExonPrimer	GeneCards
HGNC	Malacards	MGI	OMIM	PubMed	Reactome
UniProtKB	Wikipedia	BioGrid CRISPR DB

Comments and Description Text from UniProtKB


	ID: EFTU_HUMAN DESCRIPTION: RecName: Full=Elongation factor Tu, mitochondrial; Short=EF-Tu; AltName: Full=P43; Flags: Precursor; FUNCTION: This protein promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis. SUBCELLULAR LOCATION: Mitochondrion. DISEASE: 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 decreased mitochondrial protein synthesis, and combined deficiency of mtDNA-related mitochondrial respiratory chain complexes. SIMILARITY: Belongs to the GTP-binding elongation factor family. EF-Tu/EF-1A subfamily. SEQUENCE CAUTION: Sequence=AAC60647.1; Type=Erroneous initiation; Sequence=AAH01633.2; Type=Erroneous initiation; Sequence=AAH10041.2; Type=Erroneous initiation;

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

MalaCards Disease Associations


	MalaCards Gene Search: TUFM Diseases sorted by gene-association score: combined oxidative phosphorylation deficiency 4* (1680) * = Manually curated disease association

Comparative Toxicogenomics Database (CTD)


	The following chemicals interact with this gene D016572 Cyclosporine D004317 Doxorubicin C547126 AZM551248 D000082 Acetaminophen D000171 Acrolein D001564 Benzo(a)pyrene D019256 Cadmium Chloride D002330 Carmustine D002994 Clofibrate D002995 Clofibric Acid more ... click here to view the complete list

Common Gene Haplotype Alleles


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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)


	Highest median expression: 104.57 RPKM in Adrenal Gland Total median expression: 3329.45 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

Region	Fold Energy	Bases	Energy/Base	Display As
5' UTR	-32.40	79	-0.410	Picture	PostScript	Text
3' UTR	-195.40	564	-0.346	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
IPR000795 - ProtSyn_GTP-bd
IPR009001 - Transl_elong_EF1A/Init_IF2_C
IPR004161 - Transl_elong_EFTu/EF1A_2
IPR004541 - Transl_elong_EFTu/EF1A_bac/org
IPR004160 - Transl_elong_EFTu/EF1A_C
IPR009000 - Transl_elong_init/rib_B-barrel

Pfam Domains:
PF00009 - Elongation factor Tu GTP binding domain
PF03143 - Elongation factor Tu C-terminal domain
PF03144 - Elongation factor Tu domain 2

SCOP Domains:
50447 - Translation proteins
50465 - EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain
52540 - P-loop containing nucleoside triphosphate hydrolases

ModBase Predicted Comparative 3D Structure on P49411


Front	Top	Side

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.

Mouse	Rat	Zebrafish	D. melanogaster	C. elegans	S. cerevisiae
No ortholog	No ortholog	No ortholog	No ortholog	Genome Browser	Genome Browser
Gene Details	Gene Details		Gene Details	Gene Details	Gene Details
Gene Sorter	Gene Sorter		Gene Sorter	Gene Sorter	Gene Sorter
	RGD	Ensembl		WormBase	SGD
				Protein Sequence	Protein Sequence
				Alignment	Alignment

Gene Ontology (GO) Annotations with Structured Vocabulary


	Molecular Function: GO:0000166 nucleotide binding GO:0003723 RNA binding GO:0003746 translation elongation factor activity GO:0003924 GTPase activity GO:0005515 protein binding GO:0005525 GTP binding Biological Process: GO:0006412 translation GO:0006414 translational elongation GO:0045471 response to ethanol Cellular Component: GO:0005622 intracellular GO:0005739 mitochondrion GO:0016020 membrane GO:0042645 mitochondrial nucleoid GO:0043209 myelin sheath GO:0070062 extracellular exosome

Descriptions from all associated GenBank mRNAs


	LF207896 - JP 2014500723-A/15399: Polycomb-Associated Non-Coding RNAs. L38995 - Homo sapiens nuclear-encoded mitochondrial elongation factor Tu mRNA, complete cds. X84694 - H.sapiens mRNA for elongations factor Tu-mitochondrial. BC001633 - Homo sapiens Tu translation elongation factor, mitochondrial, mRNA (cDNA clone MGC:1592 IMAGE:3536952), complete cds. GQ901045 - Homo sapiens clone HEL-T-157 epididymis secretory sperm binding protein mRNA, complete cds. S75463 - P43=mitochondrial elongation factor homolog [human, liver, mRNA, 1644 nt]. BC010041 - Homo sapiens Tu translation elongation factor, mitochondrial, mRNA (cDNA clone MGC:19753 IMAGE:3629164), complete cds. JD560804 - Sequence 541828 from Patent EP1572962. LF208122 - JP 2014500723-A/15625: Polycomb-Associated Non-Coding RNAs. JD110488 - Sequence 91512 from Patent EP1572962. JD345264 - Sequence 326288 from Patent EP1572962. JD414645 - Sequence 395669 from Patent EP1572962. JD234818 - Sequence 215842 from Patent EP1572962. HQ448224 - Synthetic construct Homo sapiens clone IMAGE:100071625; CCSB003693_02 Tu translation elongation factor, mitochondrial (TUFM) gene, encodes complete protein. KJ892332 - Synthetic construct Homo sapiens clone ccsbBroadEn_01726 TUFM gene, encodes complete protein. KR709842 - Synthetic construct Homo sapiens clone CCSBHm_00006726 TUFM (TUFM) mRNA, encodes complete protein. KR712267 - Synthetic construct Homo sapiens clone CCSBHm_00900231 TUFM (TUFM) mRNA, encodes complete protein. LF372542 - JP 2014500723-A/180045: Polycomb-Associated Non-Coding RNAs. LF372543 - JP 2014500723-A/180046: Polycomb-Associated Non-Coding RNAs. LF369943 - JP 2014500723-A/177446: Polycomb-Associated Non-Coding RNAs. LF369942 - JP 2014500723-A/177445: Polycomb-Associated Non-Coding RNAs. HZ409525 - JP 2015528002-A/2122: CHIRAL CONTROL. LG052859 - KR 1020150036642-A/2125: CHIRAL CONTROL. LF372544 - JP 2014500723-A/180047: Polycomb-Associated Non-Coding RNAs. LF369941 - JP 2014500723-A/177444: Polycomb-Associated Non-Coding RNAs. LF372545 - JP 2014500723-A/180048: Polycomb-Associated Non-Coding RNAs. LF369940 - JP 2014500723-A/177443: Polycomb-Associated Non-Coding RNAs. CU674798 - Synthetic construct Homo sapiens gateway clone IMAGE:100017306 5' read TUFM mRNA. LF372546 - JP 2014500723-A/180049: Polycomb-Associated Non-Coding RNAs. LF369939 - JP 2014500723-A/177442: Polycomb-Associated Non-Coding RNAs. LF369938 - JP 2014500723-A/177441: Polycomb-Associated Non-Coding RNAs. LF372547 - JP 2014500723-A/180050: Polycomb-Associated Non-Coding RNAs. LF369937 - JP 2014500723-A/177440: Polycomb-Associated Non-Coding RNAs. LF372549 - JP 2014500723-A/180052: Polycomb-Associated Non-Coding RNAs. LF369935 - JP 2014500723-A/177438: Polycomb-Associated Non-Coding RNAs. MA608119 - JP 2018138019-A/180045: Polycomb-Associated Non-Coding RNAs. MA608120 - JP 2018138019-A/180046: Polycomb-Associated Non-Coding RNAs. MA605520 - JP 2018138019-A/177446: Polycomb-Associated Non-Coding RNAs. MA605519 - JP 2018138019-A/177445: Polycomb-Associated Non-Coding RNAs. MA608121 - JP 2018138019-A/180047: Polycomb-Associated Non-Coding RNAs. MA605518 - JP 2018138019-A/177444: Polycomb-Associated Non-Coding RNAs. MA608122 - JP 2018138019-A/180048: Polycomb-Associated Non-Coding RNAs. MA605517 - JP 2018138019-A/177443: Polycomb-Associated Non-Coding RNAs. MA608123 - JP 2018138019-A/180049: Polycomb-Associated Non-Coding RNAs. MA605516 - JP 2018138019-A/177442: Polycomb-Associated Non-Coding RNAs. MA605515 - JP 2018138019-A/177441: Polycomb-Associated Non-Coding RNAs. MA608124 - JP 2018138019-A/180050: Polycomb-Associated Non-Coding RNAs. MA605514 - JP 2018138019-A/177440: Polycomb-Associated Non-Coding RNAs. MA608126 - JP 2018138019-A/180052: Polycomb-Associated Non-Coding RNAs. MA605512 - JP 2018138019-A/177438: Polycomb-Associated Non-Coding RNAs. MA443473 - JP 2018138019-A/15399: Polycomb-Associated Non-Coding RNAs. MA443699 - JP 2018138019-A/15625: Polycomb-Associated Non-Coding RNAs. MB407871 - WO 2019159884-A/1361: Kit, device, and method for detection of dementia.

Biochemical and Signaling Pathways


	Reactome (by CSHL, EBI, and GO) Protein P49411 (Reactome details) participates in the following event(s): R-HSA-5389845 TUFM:GTP binds aminoacyl-tRNA R-HSA-5419268 TUFM binds GTP displacing TSFM R-HSA-5419269 TSFM binds TUFM displacing GDP R-HSA-5389842 TUFM hydrolyzes GTP and TUFM:GDP dissociates from 55S ribosome R-HSA-5389848 TUFM:GTP:aminoacyl-tRNA binds 55S ribosome:mRNA:fMet-tRNA R-HSA-5389840 Mitochondrial translation elongation R-HSA-5368287 Mitochondrial translation R-HSA-72766 Translation R-HSA-392499 Metabolism of proteins

Other Names for This Gene


	Alternate Gene Symbols: EFTU_HUMAN, ENST00000313511.1, ENST00000313511.2, ENST00000313511.3, ENST00000313511.4, ENST00000313511.5, ENST00000313511.6, ENST00000313511.7, NM_003321, O15276, P49411, uc317pkt.1, uc317pkt.2 UCSC ID: ENST00000313511.8_7 RefSeq Accession: NM_003321.5 Protein: P49411 (aka EFTU_HUMAN)

Gene Model Information


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Methods, Credits, and Use Restrictions


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