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Protein

Methionyl-tRNA formyltransferase, mitochondrial

Gene

MTFMT

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Formylates methionyl-tRNA in mitochondria. A single tRNA(Met) gene gives rise to both an initiator and an elongator species via an unknown mechanism (By similarity).By similarity

Catalytic activityi

10-formyltetrahydrofolate + L-methionyl-tRNA(fMet) = tetrahydrofolate + N-formylmethionyl-tRNA(fMet).

GO - Molecular functioni

Complete GO annotation...

Keywords - Molecular functioni

Transferase

Keywords - Biological processi

Protein biosynthesis

Enzyme and pathway databases

BioCyciZFISH:HS02529-MONOMER.
ReactomeiR-HSA-5368286. Mitochondrial translation initiation.

Names & Taxonomyi

Protein namesi
Recommended name:
Methionyl-tRNA formyltransferase, mitochondrial (EC:2.1.2.9)
Short name:
MtFMT
Gene namesi
Name:MTFMT
Synonyms:FMT, FMT1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

HGNCiHGNC:29666. MTFMT.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Combined oxidative phosphorylation deficiency 15 (COXPD15)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive, mitochondrial, neurologic disorder characterized by features of Leigh syndrome and combined oxidative phosphorylation deficiency. Clinical features include mild global developmental delay, white matter abnormalities, ataxia, incoordination, speech and reading difficulties, T2-weighted hyperintensities in the basal ganglia, corpus callosum, and brainstem.
See also OMIM:614947
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069303125S → L in COXPD15. 1 PublicationCorresponds to variant rs397514614dbSNPEnsembl.1
Natural variantiVAR_069304209S → L in COXPD15; also found in Leigh syndrome. 2 PublicationsCorresponds to variant rs201431517dbSNPEnsembl.1
Leigh syndrome (LS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia.
See also OMIM:256000

Keywords - Diseasei

Disease mutation, Leigh syndrome

Organism-specific databases

DisGeNETi123263.
MalaCardsiMTFMT.
MIMi256000. phenotype.
614947. phenotype.
OpenTargetsiENSG00000103707.
Orphaneti319524. Combined oxidative phosphorylation defect type 15.
2609. Isolated NADH-CoQ reductase deficiency.
PharmGKBiPA142671304.

Chemistry databases

DrugBankiDB00116. Tetrahydrofolic acid.

Polymorphism and mutation databases

BioMutaiMTFMT.
DMDMi27923776.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_0000010093? – 389Methionyl-tRNA formyltransferase, mitochondrial
Transit peptidei1 – ?MitochondrionSequence analysis

Proteomic databases

EPDiQ96DP5.
MaxQBiQ96DP5.
PaxDbiQ96DP5.
PeptideAtlasiQ96DP5.
PRIDEiQ96DP5.

PTM databases

iPTMnetiQ96DP5.
PhosphoSitePlusiQ96DP5.

Expressioni

Gene expression databases

BgeeiENSG00000103707.
CleanExiHS_MTFMT.
ExpressionAtlasiQ96DP5. baseline and differential.
GenevisibleiQ96DP5. HS.

Organism-specific databases

HPAiHPA040710.

Interactioni

Protein-protein interaction databases

BioGridi125820. 7 interactors.
STRINGi9606.ENSP00000220058.

Structurei

3D structure databases

ProteinModelPortaliQ96DP5.
SMRiQ96DP5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domaini

Composed of an N- and a C-terminal domain. The N-terminal domain carries the tetrahydrofolate (THF)-binding site and the C-terminal domain is presumably involved in positioning the Met-tRNA substrate for the formylation reaction.

Sequence similaritiesi

Belongs to the Fmt family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG3082. Eukaryota.
COG0223. LUCA.
GeneTreeiENSGT00390000017828.
HOGENOMiHOG000261177.
HOVERGENiHBG031552.
InParanoidiQ96DP5.
KOiK00604.
OMAiVEGRKPM.
OrthoDBiEOG091G0QUP.
PhylomeDBiQ96DP5.
TreeFamiTF323405.

Family and domain databases

Gene3Di3.10.25.10. 1 hit.
3.40.50.170. 1 hit.
InterProiIPR005794. Fmt.
IPR005793. Formyl_trans_C.
IPR002376. Formyl_transf_N.
IPR011034. Formyl_transferase_C-like.
[Graphical view]
PfamiPF02911. Formyl_trans_C. 1 hit.
PF00551. Formyl_trans_N. 1 hit.
[Graphical view]
SUPFAMiSSF50486. SSF50486. 1 hit.
SSF53328. SSF53328. 1 hit.
TIGRFAMsiTIGR00460. fmt. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

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

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96DP5-1) [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
MRVLVRRCWG PPLAHGARRG RPSPQWRALA RLGWEDCRDS RVREKPPWRV
60 70 80 90 100
LFFGTDQFAR EALRALHAAR ENKEEELIDK LEVVTMPSPS PKGLPVKQYA
110 120 130 140 150
VQSQLPVYEW PDVGSGEYDV GVVASFGRLL NEALILKFPY GILNVHPSCL
160 170 180 190 200
PRWRGPAPVI HTVLHGDTVT GVTIMQIRPK RFDVGPILKQ ETVPVPPKST
210 220 230 240 250
AKELEAVLSR LGANMLISVL KNLPESLSNG RQQPMEGATY APKISAGTSC
260 270 280 290 300
IKWEEQTSEQ IFRLYRAIGN IIPLQTLWMA NTIKLLDLVE VNSSVLADPK
310 320 330 340 350
LTGQALIPGS VIYHKQSQIL LVYCKDGWIG VRSVMLKKSL TATDFYNGYL
360 370 380
HPWYQKNSQA QPSQCRFQTL RLPTKKKQKK TVAMQQCIE
Length:389
Mass (Da):43,832
Last modified:January 27, 2003 - v2
Checksum:iEBBE92142AB954E0
GO
Isoform 2 (identifier: Q96DP5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     141-144: GILN → SFQF
     145-389: Missing.

Note: No experimental confirmation available.
Show »
Length:144
Mass (Da):16,548
Checksum:i7BB7825B64E39247
GO

Sequence cautioni

The sequence AAH16630 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAH33687 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAB70984 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0592895V → A.Corresponds to variant rs2946655dbSNPEnsembl.1
Natural variantiVAR_069303125S → L in COXPD15. 1 PublicationCorresponds to variant rs397514614dbSNPEnsembl.1
Natural variantiVAR_069304209S → L in COXPD15; also found in Leigh syndrome. 2 PublicationsCorresponds to variant rs201431517dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_057059141 – 144GILN → SFQF in isoform 2. 1 Publication4
Alternative sequenceiVSP_057060145 – 389Missing in isoform 2. 1 PublicationAdd BLAST245

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK055688 mRNA. Translation: BAB70984.1. Different initiation.
AK301390 mRNA. Translation: BAH13470.1.
AC013553 Genomic DNA. No translation available.
AC103691 Genomic DNA. No translation available.
BC016630 mRNA. Translation: AAH16630.2. Different initiation.
BC033687 mRNA. Translation: AAH33687.1. Different initiation.
CCDSiCCDS45280.1. [Q96DP5-1]
RefSeqiNP_640335.2. NM_139242.3. [Q96DP5-1]
UniGeneiHs.531615.

Genome annotation databases

EnsembliENST00000220058; ENSP00000220058; ENSG00000103707. [Q96DP5-1]
ENST00000543678; ENSP00000443754; ENSG00000103707. [Q96DP5-2]
ENST00000558460; ENSP00000452646; ENSG00000103707. [Q96DP5-1]
GeneIDi123263.
KEGGihsa:123263.
UCSCiuc002aof.5. human. [Q96DP5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK055688 mRNA. Translation: BAB70984.1. Different initiation.
AK301390 mRNA. Translation: BAH13470.1.
AC013553 Genomic DNA. No translation available.
AC103691 Genomic DNA. No translation available.
BC016630 mRNA. Translation: AAH16630.2. Different initiation.
BC033687 mRNA. Translation: AAH33687.1. Different initiation.
CCDSiCCDS45280.1. [Q96DP5-1]
RefSeqiNP_640335.2. NM_139242.3. [Q96DP5-1]
UniGeneiHs.531615.

3D structure databases

ProteinModelPortaliQ96DP5.
SMRiQ96DP5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125820. 7 interactors.
STRINGi9606.ENSP00000220058.

Chemistry databases

DrugBankiDB00116. Tetrahydrofolic acid.

PTM databases

iPTMnetiQ96DP5.
PhosphoSitePlusiQ96DP5.

Polymorphism and mutation databases

BioMutaiMTFMT.
DMDMi27923776.

Proteomic databases

EPDiQ96DP5.
MaxQBiQ96DP5.
PaxDbiQ96DP5.
PeptideAtlasiQ96DP5.
PRIDEiQ96DP5.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000220058; ENSP00000220058; ENSG00000103707. [Q96DP5-1]
ENST00000543678; ENSP00000443754; ENSG00000103707. [Q96DP5-2]
ENST00000558460; ENSP00000452646; ENSG00000103707. [Q96DP5-1]
GeneIDi123263.
KEGGihsa:123263.
UCSCiuc002aof.5. human. [Q96DP5-1]

Organism-specific databases

CTDi123263.
DisGeNETi123263.
GeneCardsiMTFMT.
HGNCiHGNC:29666. MTFMT.
HPAiHPA040710.
MalaCardsiMTFMT.
MIMi256000. phenotype.
611766. gene.
614947. phenotype.
neXtProtiNX_Q96DP5.
OpenTargetsiENSG00000103707.
Orphaneti319524. Combined oxidative phosphorylation defect type 15.
2609. Isolated NADH-CoQ reductase deficiency.
PharmGKBiPA142671304.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3082. Eukaryota.
COG0223. LUCA.
GeneTreeiENSGT00390000017828.
HOGENOMiHOG000261177.
HOVERGENiHBG031552.
InParanoidiQ96DP5.
KOiK00604.
OMAiVEGRKPM.
OrthoDBiEOG091G0QUP.
PhylomeDBiQ96DP5.
TreeFamiTF323405.

Enzyme and pathway databases

BioCyciZFISH:HS02529-MONOMER.
ReactomeiR-HSA-5368286. Mitochondrial translation initiation.

Miscellaneous databases

GeneWikiiMTFMT.
GenomeRNAii123263.
PROiQ96DP5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000103707.
CleanExiHS_MTFMT.
ExpressionAtlasiQ96DP5. baseline and differential.
GenevisibleiQ96DP5. HS.

Family and domain databases

Gene3Di3.10.25.10. 1 hit.
3.40.50.170. 1 hit.
InterProiIPR005794. Fmt.
IPR005793. Formyl_trans_C.
IPR002376. Formyl_transf_N.
IPR011034. Formyl_transferase_C-like.
[Graphical view]
PfamiPF02911. Formyl_trans_C. 1 hit.
PF00551. Formyl_trans_N. 1 hit.
[Graphical view]
SUPFAMiSSF50486. SSF50486. 1 hit.
SSF53328. SSF53328. 1 hit.
TIGRFAMsiTIGR00460. fmt. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiFMT_HUMAN
AccessioniPrimary (citable) accession number: Q96DP5
Secondary accession number(s): B7Z734
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 27, 2003
Last sequence update: January 27, 2003
Last modified: November 30, 2016
This is version 139 of the entry and version 2 of the sequence. [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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: 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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.