Format

Send to:

Choose Destination

TSFM Ts translation elongation factor, mitochondrial [ Homo sapiens (human) ]

Gene ID: 10102, updated on 12-Aug-2018

Summary

Official Symbol
TSFMprovided by HGNC
Official Full Name
Ts translation elongation factor, mitochondrialprovided by HGNC
Primary source
HGNC:HGNC:12367
See related
Ensembl:ENSG00000123297 MIM:604723; Vega:OTTHUMG00000153042
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EFTS; EFTSMT
Summary
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]
Expression
Ubiquitous expression in adrenal (RPKM 18.8), kidney (RPKM 13.0) and 25 other tissues See more
Orthologs

Genomic context

See TSFM in Genome Data Viewer
Location:
12q14.1
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (57782745..57802856)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (58176528..58196639)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene methyltransferase like 1 Neighboring gene EEF1A lysine methyltransferase 3 Neighboring gene advillin Neighboring gene RNA, U6 small nuclear 1083, pseudogene Neighboring gene CTD small phosphatase 2 Neighboring gene microRNA 26a-2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Mitochondrial translation, organism-specific biosystem (from REACTOME)
    Mitochondrial translation, organism-specific biosystemOf the roughly 1000 human mitochondrial proteins only 13 proteins, all of them hydrophobic inner membrane proteins that are components of the oxidative phosphorylation apparatus, are encoded in the m...
  • Mitochondrial translation elongation, organism-specific biosystem (from REACTOME)
    Mitochondrial translation elongation, organism-specific biosystemTranslation elongation proceeds by cycles of aminoacyl-tRNAs binding, peptide bond formation, and displacement of deacylated tRNAs (reviewed in Christian and Spremulli 2012). In each cycle an aminoac...
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
translation elongation factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
mitochondrial translational elongation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of DNA-templated transcription, elongation TAS
Traceable Author Statement
more info
PubMed 
regulation of mitochondrial translation IDA
Inferred from Direct Assay
more info
PubMed 
translational elongation TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
mitochondrial matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
elongation factor Ts, mitochondrial
Names
EF-Ts
EF-TsMt
mitochondrial elongation factor Ts

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016971.1 RefSeqGene

    Range
    5001..25112
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001172695.1NP_001166166.1  elongation factor Ts, mitochondrial isoform 3 precursor

    See identical proteins and their annotated locations for NP_001166166.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two exons in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AK304621, DB448773
    Consensus CDS
    CCDS53811.1
    UniProtKB/Swiss-Prot
    P43897
    Related
    ENSP00000440987.1, OTTHUMP00000281545, ENST00000540550.6, OTTHUMT00000488627
    Conserved Domains (2) summary
    cd14275
    Location:4884
    UBA_EF-Ts; UBA domain found in elongation factor Ts (EF-Ts) from bacteria, chloroplasts and mitochondria of eukaryotes
    pfam00889
    Location:117142
    EF_TS; Elongation factor TS
  2. NM_001172696.1NP_001166167.1  elongation factor Ts, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_001166167.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AK304621, BC022862, DB448773
    Consensus CDS
    CCDS53809.1
    UniProtKB/Swiss-Prot
    P43897
    Related
    ENSP00000313877.8, OTTHUMP00000202980, ENST00000323833.12, OTTHUMT00000329193
    Conserved Domains (3) summary
    COG0264
    Location:43334
    Tsf; Translation elongation factor EF-Ts [Translation, ribosomal structure and biogenesis]
    cd14275
    Location:4884
    UBA_EF-Ts; UBA domain found in elongation factor Ts (EF-Ts) from bacteria, chloroplasts and mitochondria of eukaryotes
    pfam00889
    Location:117334
    EF_TS; Elongation factor TS
  3. NM_001172697.1NP_001166168.1  elongation factor Ts, mitochondrial isoform 4 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 3' UTR and has multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform 4) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AK308981, DB448773
    Consensus CDS
    CCDS53810.1
    UniProtKB/Swiss-Prot
    P43897
    Related
    ENSP00000439342.1, ENST00000543727.5
    Conserved Domains (2) summary
    cd14275
    Location:4884
    UBA_EF-Ts; UBA domain found in elongation factor Ts (EF-Ts) from bacteria, chloroplasts and mitochondria of eukaryotes
    pfam00889
    Location:117142
    EF_TS; Elongation factor TS
  4. NM_005726.5NP_005717.3  elongation factor Ts, mitochondrial isoform 2 precursor

    See identical proteins and their annotated locations for NP_005717.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AF110399, AK304621, DB448773
    Consensus CDS
    CCDS8958.2
    UniProtKB/Swiss-Prot
    P43897
    UniProtKB/TrEMBL
    E5KS95
    Related
    ENSP00000388330.2, OTTHUMP00000202979, ENST00000454289.7, OTTHUMT00000329192
    Conserved Domains (3) summary
    COG0264
    Location:43313
    Tsf; Translation elongation factor EF-Ts [Translation, ribosomal structure and biogenesis]
    cd14275
    Location:4884
    UBA_EF-Ts; UBA domain found in elongation factor Ts (EF-Ts) from bacteria, chloroplasts and mitochondria of eukaryotes
    pfam00889
    Location:117313
    EF_TS; Elongation factor TS

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    57782745..57802856
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center