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Q96DP5

- FMT_HUMAN

UniProt

Q96DP5 - FMT_HUMAN

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Protein

Methionyl-tRNA formyltransferase, mitochondrial

Gene

MTFMT

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. methionyl-tRNA formyltransferase activity Source: UniProtKB-EC
Complete GO annotation...

Keywords - Molecular functioni

Transferase

Keywords - Biological processi

Protein biosynthesis

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
ProteomesiUP000005640: Chromosome 15

Organism-specific databases

HGNCiHGNC:29666. MTFMT.

Subcellular locationi

Mitochondrion By similarity

GO - Cellular componenti

  1. mitochondrion Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti125 – 1251S → L in COXPD15. 1 Publication
VAR_069303
Natural varianti209 – 2091S → L in COXPD15; also found in Leigh syndrome. 2 Publications
VAR_069304
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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Keywords - Diseasei

Disease mutation, Leigh syndrome

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini? – 389Methionyl-tRNA formyltransferase, mitochondrialPRO_0000010093
Transit peptidei1 – ?MitochondrionSequence Analysis

Proteomic databases

MaxQBiQ96DP5.
PaxDbiQ96DP5.
PRIDEiQ96DP5.

PTM databases

PhosphoSiteiQ96DP5.

Expressioni

Gene expression databases

BgeeiQ96DP5.
CleanExiHS_MTFMT.
ExpressionAtlasiQ96DP5. baseline and differential.
GenevestigatoriQ96DP5.

Organism-specific databases

HPAiHPA040710.

Interactioni

Protein-protein interaction databases

BioGridi125820. 3 interactions.
STRINGi9606.ENSP00000220058.

Structurei

3D structure databases

ProteinModelPortaliQ96DP5.
SMRiQ96DP5. Positions 49-347.
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

eggNOGiCOG0223.
GeneTreeiENSGT00390000017828.
HOGENOMiHOG000261177.
HOVERGENiHBG031552.
InParanoidiQ96DP5.
KOiK00604.
OMAiKAQAQNE.
OrthoDBiEOG7CZK68.
PhylomeDBiQ96DP5.
TreeFamiTF323405.

Family and domain databases

Gene3Di3.40.50.170. 1 hit.
InterProiIPR005794. Fmt.
IPR005793. Formyl_trans_C.
IPR002376. Formyl_transf_N.
IPR011034. Formyl_transferase_C-like.
IPR015518. Met_tRNA_Form_TA-like.
[Graphical view]
PANTHERiPTHR11138. PTHR11138. 1 hit.
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. Align

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 AAH16630.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
The sequence AAH33687.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
The sequence BAB70984.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti5 – 51V → A.
Corresponds to variant rs2946655 [ dbSNP | Ensembl ].
VAR_059289
Natural varianti125 – 1251S → L in COXPD15. 1 Publication
VAR_069303
Natural varianti209 – 2091S → L in COXPD15; also found in Leigh syndrome. 2 Publications
VAR_069304

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei141 – 1444GILN → SFQF in isoform 2. 1 PublicationVSP_057059
Alternative sequencei145 – 389245Missing in isoform 2. 1 PublicationVSP_057060Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
RefSeqiNP_640335.2. NM_139242.3.
XP_005254215.1. XM_005254158.2.
UniGeneiHs.531615.

Genome annotation databases

EnsembliENST00000220058; ENSP00000220058; ENSG00000103707.
ENST00000558460; ENSP00000452646; ENSG00000103707.
GeneIDi123263.
KEGGihsa:123263.
UCSCiuc002aof.4. human.

Polymorphism databases

DMDMi27923776.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
CCDSi CCDS45280.1.
RefSeqi NP_640335.2. NM_139242.3.
XP_005254215.1. XM_005254158.2.
UniGenei Hs.531615.

3D structure databases

ProteinModelPortali Q96DP5.
SMRi Q96DP5. Positions 49-347.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 125820. 3 interactions.
STRINGi 9606.ENSP00000220058.

Chemistry

DrugBanki DB00116. Tetrahydrofolic acid.

PTM databases

PhosphoSitei Q96DP5.

Polymorphism databases

DMDMi 27923776.

Proteomic databases

MaxQBi Q96DP5.
PaxDbi Q96DP5.
PRIDEi Q96DP5.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000220058 ; ENSP00000220058 ; ENSG00000103707 .
ENST00000558460 ; ENSP00000452646 ; ENSG00000103707 .
GeneIDi 123263.
KEGGi hsa:123263.
UCSCi uc002aof.4. human.

Organism-specific databases

CTDi 123263.
GeneCardsi GC15M065293.
HGNCi HGNC:29666. MTFMT.
HPAi HPA040710.
MIMi 256000. phenotype.
611766. gene.
614947. phenotype.
neXtProti NX_Q96DP5.
Orphaneti 319524. Combined oxidative phosphorylation defect type 15.
2609. Isolated NADH-CoQ reductase deficiency.
PharmGKBi PA142671304.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0223.
GeneTreei ENSGT00390000017828.
HOGENOMi HOG000261177.
HOVERGENi HBG031552.
InParanoidi Q96DP5.
KOi K00604.
OMAi KAQAQNE.
OrthoDBi EOG7CZK68.
PhylomeDBi Q96DP5.
TreeFami TF323405.

Miscellaneous databases

GeneWikii MTFMT.
GenomeRNAii 123263.
NextBioi 81093.
PROi Q96DP5.
SOURCEi Search...

Gene expression databases

Bgeei Q96DP5.
CleanExi HS_MTFMT.
ExpressionAtlasi Q96DP5. baseline and differential.
Genevestigatori Q96DP5.

Family and domain databases

Gene3Di 3.40.50.170. 1 hit.
InterProi IPR005794. Fmt.
IPR005793. Formyl_trans_C.
IPR002376. Formyl_transf_N.
IPR011034. Formyl_transferase_C-like.
IPR015518. Met_tRNA_Form_TA-like.
[Graphical view ]
PANTHERi PTHR11138. PTHR11138. 1 hit.
Pfami PF02911. Formyl_trans_C. 1 hit.
PF00551. Formyl_trans_N. 1 hit.
[Graphical view ]
SUPFAMi SSF50486. SSF50486. 1 hit.
SSF53328. SSF53328. 1 hit.
TIGRFAMsi TIGR00460. fmt. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 11-389 (ISOFORM 1).
    Tissue: Neuroblastoma and Synovium.
  2. "Analysis of the DNA sequence and duplication history of human chromosome 15."
    Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
    , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
    Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Brain and Mammary gland.
  4. Cited for: VARIANTS COXPD15 LEU-125 AND LEU-209.
  5. Cited for: VARIANT LS LEU-209.

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: October 29, 2014
This is version 117 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

External Data

Dasty 3