TSFM
Elongation factor Ts, mitochondrial
Also known as: EF-TS, EF-Tsmt, EFTS_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P43897
- Gene
- TSFM
- Ensembl
- ENSG00000123297
- Chromosome
- 12
- Canonical length
- 325 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Mitochondria
OverviewNCBI Gene
This gene encodes a mitochondrial translation elongation factor. The encoded protein is an enzyme that catalyzes the exchange of guanine nucleotides on the translation elongation factor Tu during the elongation step of mitchondrial protein translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-3 syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]
Canonical amino-acid sequenceUniProt
325 residues, UniProt reviewed canonical sequence.
>P43897|TSFM
1 MSLLRSLRVF LVARTGSYPA GSLLRQSPQP RHTFYAGPRL SASASSKELL MKLRRKTGYS
61 FVNCKKALET CGGDLKQAEI WLHKEAQKEG WSKAAKLQGR KTKEGLIGLL QEGNTTVLVE
121 VNCETDFVSR NLKFQLLVQQ VALGTMMHCQ TLKDQPSAYS KGFLNSSELS GLPAGPDREG
181 SLKDQLALAI GKLGENMILK RAAWVKVPSG FYVGSYVHGA MQSPSLHKLV LGKYGALVIC
241 ETSEQKTNLE DVGRRLGQHV VGMAPLSVGS LDDEPGGEAE TKMLSQPYLL DPSITLGQYV
301 QPQGVSVVDF VRFECGEGEE AAETELocalizationUniProt · AlphaFold · HPA
Whether an antibody against TSFM can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.34
- Highest tissue expression
- 60 nTPM
Expression across tissuesHPA
Tissue
- tongue: 60 nTPM
- skeletal muscle: 55 nTPM
- adrenal gland: 49 nTPM
- choroid plexus: 46 nTPM
- heart muscle: 41 nTPM
- liver: 38 nTPM
Single-cell type
- epicardial cells: 107 nCPM
- early spermatids: 63 nCPM
- late spermatids: 39 nCPM
- cardiomyocytes: 29 nCPM
- adipocytes: 18 nCPM
- other brain neurons: 15 nCPM
Immune cell
- MAIT T-cell: 36 nTPM
- NK-cell: 34 nTPM
- naive CD8 T-cell: 32 nTPM
- naive CD4 T-cell: 31 nTPM
- memory CD4 T-cell: 31 nTPM
- T-reg: 31 nTPM
Brain region
- choroid plexus: 34 nTPM
- cerebral cortex: 32 nTPM
- pons: 30 nTPM
- hypothalamus: 29 nTPM
- spinal cord: 29 nTPM
- thalamus: 29 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about TSFM.
Disease | AllUniProt
Conditions TSFM is implicated in, by any mechanism.
- Combined oxidative phosphorylation deficiency 3 (COXPD3) MIM:610505
Disease | GeneticClinVar
88 pathogenic / likely-pathogenic of 573 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- Inborn genetic diseases
- Primary dilated cardiomyopathy
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.45
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.22
- DepMap mean gene effect
- -0.32
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- UBA-like superfamily
- Translation elongation factor EFTs/EF1B
- Translation elongation factor EFTs/EF1B, dimerisation
- Translation elongation factor Ts, conserved site
- Elongation factor Ts, dimerisation domain superfamily
- Elongation factor TS
- Elongation factor Ts, mitochondrial, N-terminal
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of TSFM in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads TSFM as an antibody target. Whether an autoantibody or antibody against TSFM could matter depends on whether native TSFM is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TSFM is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label TSFM as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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