InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MTFMT

Summary

InnateDB Protein

IDBP-16961.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MTFMT

Protein Name

mitochondrial methionyl-tRNA formyltransferase

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000220058

InnateDB Gene

IDBG-16959 (MTFMT)

Protein Structure

UniProt Annotation

Function

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). {ECO:0000250}.

Subcellular Localization

Mitochondrion {ECO:0000250}.

Disease Associations

Combined oxidative phosphorylation deficiency 15 (COXPD15) [MIM:614947]: An 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. {ECO:0000269PubMed:21907147}. Note=The disease is caused by mutations affecting the gene represented in this entry.Leigh syndrome (LS) [MIM:256000]: An 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. {ECO:0000269PubMed:22499348}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	1 [view]
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0004479	methionyl-tRNA formyltransferase activity
GO:0016742	hydroxymethyl-, formyl- and related transferase activity

Biological Process

GO:0006413	translational initiation
GO:0009058	biosynthetic process
GO:0071951	conversion of methionyl-tRNA to N-formyl-methionyl-tRNA

Cellular Component

GO:0005739

mitochondrion

Protein Structure and Domains

PDB ID

InterPro

IPR002376 Formyl transferase, N-terminal
IPR005793 Formyl transferase, C-terminal
IPR005794 Methionyl-tRNA formyltransferase
IPR011034 Formyl transferase, C-terminal-like

PFAM

PF00551
PF02911

PRINTS

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q96DP5

PhosphoSite