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UniProtKB - P43897 (EFTS_HUMAN)

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Protein

Elongation factor Ts, mitochondrial

Gene

TSFM

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Associates with the EF-Tu.GDP complex and induces the exchange of GDP to GTP. It remains bound to the aminoacyl-tRNA.EF-Tu.GTP complex up to the GTP hydrolysis stage on the ribosome.UniRule annotation1 Publication

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

  • mitochondrial translational elongation Source: GO_Central
  • regulation of DNA-templated transcription, elongation Source: ProtInc
  • regulation of mitochondrial translation Source: UniProtKB
  • translational elongation Source: ProtInc
View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionElongation factor
Biological processProtein biosynthesis

Enzyme and pathway databases

ReactomeiR-HSA-5389840 Mitochondrial translation elongation

Names & Taxonomyi

Protein namesi
Recommended name:
Elongation factor Ts, mitochondrialUniRule annotation
Short name:
EF-TsUniRule annotation
Short name:
EF-TsMtUniRule annotation
Gene namesi
Name:TSFMUniRule annotation
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000123297.17
HGNCiHGNC:12367 TSFM
MIMi604723 gene
neXtProtiNX_P43897

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Combined oxidative phosphorylation deficiency 3 (COXPD3)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA mitochondrial disease resulting in severe metabolic acidosis with encephalomyopathy or with hypertrophic cardiomyopathy. Patients show a severe defect in mitochondrial translation leading to a failure to assemble adequate amounts of three of the oxidative phosphorylation complexes.
See also OMIM:610505
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077697240C → S in COXPD3; decreased protein abundance; decreased mitochondrial translation products; patient fibroblast phenotype can be rescued by coexpression with wild-type TSFM. 1 PublicationCorresponds to variant dbSNP:rs750799705Ensembl.1
Natural variantiVAR_068973312R → W in COXPD3. 2 PublicationsCorresponds to variant dbSNP:rs121909485Ensembl.1

Keywords - Diseasei

Cardiomyopathy, Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNETi10102
MalaCardsiTSFM
MIMi610505 phenotype
OpenTargetsiENSG00000123297
Orphaneti168566 Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3
PharmGKBiPA37037

Polymorphism and mutation databases

BioMutaiTSFM
DMDMi12644268

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 45MitochondrionUniRule annotationAdd BLAST45
ChainiPRO_000000746846 – 325Elongation factor Ts, mitochondrialAdd BLAST280

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei76N6-succinyllysineBy similarity1
Modified residuei133N6-succinyllysineBy similarity1
Modified residuei192N6-succinyllysineBy similarity1
Modified residuei270PhosphoserineCombined sources1
Modified residuei324PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiP43897
MaxQBiP43897
PeptideAtlasiP43897
PRIDEiP43897
ProteomicsDBi55655
55656 [P43897-2]
55657 [P43897-3]

PTM databases

iPTMnetiP43897
PhosphoSitePlusiP43897

Expressioni

Tissue specificityi

Expressed in all tissues, with the highest levels of expression in skeletal muscle, liver and kidney.

Gene expression databases

BgeeiENSG00000123297
CleanExiHS_TSFM
ExpressionAtlasiP43897 baseline and differential
GenevisibleiP43897 HS

Organism-specific databases

HPAiHPA006204

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi115409, 29 interactors
IntActiP43897, 21 interactors
MINTiP43897

Structurei

Secondary structure

1325
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi48 – 57Combined sources10
Helixi61 – 71Combined sources11
Helixi75 – 89Combined sources15
Beta strandi92 – 94Combined sources3

3D structure databases

ProteinModelPortaliP43897
SMRiP43897
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP43897

Family & Domainsi

Sequence similaritiesi

Belongs to the EF-Ts family.UniRule annotation

Keywords - Domaini

Transit peptide

Phylogenomic databases

GeneTreeiENSGT00390000016293
HOGENOMiHOG000220988
HOVERGENiHBG005571
InParanoidiP43897
KOiK02357
OMAiGYTFANC
OrthoDBiEOG091G0E11
PhylomeDBiP43897
TreeFamiTF314154

Family and domain databases

Gene3Di3.30.479.20, 4 hits
HAMAPiMF_00050 EF_Ts, 1 hit
InterProiView protein in InterPro
IPR036402 EF-Ts_dimer_sf
IPR001816 Transl_elong_EFTs/EF1B
IPR014039 Transl_elong_EFTs/EF1B_dimer
IPR018101 Transl_elong_Ts_CS
IPR009060 UBA-like_sf
PANTHERiPTHR11741 PTHR11741, 1 hit
PfamiView protein in Pfam
PF00889 EF_TS, 1 hit
SUPFAMiSSF46934 SSF46934, 1 hit
SSF54713 SSF54713, 2 hits
PROSITEiView protein in PROSITE
PS01126 EF_TS_1, 1 hit
PS01127 EF_TS_2, 1 hit

Sequences (4)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P43897-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSLLRSLRVF LVARTGSYPA GSLLRQSPQP RHTFYAGPRL SASASSKELL 
        60         70         80         90        100
MKLRRKTGYS FVNCKKALET CGGDLKQAEI WLHKEAQKEG WSKAAKLQGR 
       110        120        130        140        150
KTKEGLIGLL QEGNTTVLVE VNCETDFVSR NLKFQLLVQQ VALGTMMHCQ 
       160        170        180        190        200
TLKDQPSAYS KGFLNSSELS GLPAGPDREG SLKDQLALAI GKLGENMILK 
       210        220        230        240        250
RAAWVKVPSG FYVGSYVHGA MQSPSLHKLV LGKYGALVIC ETSEQKTNLE 
       260        270        280        290        300
DVGRRLGQHV VGMAPLSVGS LDDEPGGEAE TKMLSQPYLL DPSITLGQYV 
       310        320 
QPQGVSVVDF VRFECGEGEE AAETE
Length:325
Mass (Da):35,391
Last modified:January 11, 2001 - v2
Checksum:i671645764A9CB31C
GO
Isoform 2 (identifier: P43897-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     161-161: K → KVQWLTPVNLALWEAEAGGSLE

Note: No experimental confirmation available.
Show »
Length:346
Mass (Da):37,656
Checksum:i15E85F6DF0FE8714
GO
Isoform 3 (identifier: P43897-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     162-167: GFLNSS → ENWEKT
     168-325: Missing.

Note: No experimental confirmation available.
Show »
Length:167
Mass (Da):18,748
Checksum:i32E5D247199AF171
GO
Isoform 4 (identifier: P43897-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     192-215: KLGENMILKRAAWVKVPSGFYVGS → LPFQIGAVSELQLPESNFLQNTSS
     216-325: Missing.

Note: No experimental confirmation available.
Show »
Length:215
Mass (Da):23,557
Checksum:i018E9C1CD7458EBD
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti32 – 34HTF → ARV in AAC37577 (PubMed:7615523).Curated3
Sequence conflicti196N → T in AAH93068 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077697240C → S in COXPD3; decreased protein abundance; decreased mitochondrial translation products; patient fibroblast phenotype can be rescued by coexpression with wild-type TSFM. 1 PublicationCorresponds to variant dbSNP:rs750799705Ensembl.1
Natural variantiVAR_068973312R → W in COXPD3. 2 PublicationsCorresponds to variant dbSNP:rs121909485Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_001364161K → KVQWLTPVNLALWEAEAGGS LE in isoform 2. 1 Publication1
Alternative sequenceiVSP_043517162 – 167GFLNSS → ENWEKT in isoform 3. 1 Publication6
Alternative sequenceiVSP_043518168 – 325Missing in isoform 3. 1 PublicationAdd BLAST158
Alternative sequenceiVSP_045283192 – 215KLGEN…FYVGS → LPFQIGAVSELQLPESNFLQ NTSS in isoform 4. 1 PublicationAdd BLAST24
Alternative sequenceiVSP_045284216 – 325Missing in isoform 4. 1 PublicationAdd BLAST110

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF110399 mRNA Translation: AAD20224.1
AK304621 mRNA Translation: BAG65403.1
AK308981 mRNA No translation available.
AC025165 Genomic DNA No translation available.
CH471054 Genomic DNA Translation: EAW97075.1
BC022862 mRNA Translation: AAH22862.1
BC093068 mRNA Translation: AAH93068.1
L37936 mRNA Translation: AAC37577.1
CCDSiCCDS53809.1 [P43897-2]
CCDS53810.1 [P43897-4]
CCDS53811.1 [P43897-3]
CCDS8958.2 [P43897-1]
PIRiI84606
RefSeqiNP_001166166.1, NM_001172695.1 [P43897-3]
NP_001166167.1, NM_001172696.1 [P43897-2]
NP_001166168.1, NM_001172697.1 [P43897-4]
NP_005717.3, NM_005726.5 [P43897-1]
UniGeneiHs.632704

Genome annotation databases

EnsembliENST00000323833; ENSP00000313877; ENSG00000123297 [P43897-2]
ENST00000454289; ENSP00000388330; ENSG00000123297 [P43897-1]
ENST00000540550; ENSP00000440987; ENSG00000123297 [P43897-3]
ENST00000543727; ENSP00000439342; ENSG00000123297 [P43897-4]
GeneIDi10102
KEGGihsa:10102
UCSCiuc001sqh.4 human [P43897-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiEFTS_HUMAN
AccessioniPrimary (citable) accession number: P43897
Secondary accession number(s): B4E391
, F5H2T7, Q561V7, Q8TBC2, Q9UQK0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: January 11, 2001
Last modified: July 18, 2018
This is version 180 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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