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Q92734 (TFG_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 121. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein TFG
Alternative name(s):
TRK-fused gene protein
Gene names
Name:TFG
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length400 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Tissue specificity

Ubiquitous.

Involvement in disease

Thyroid papillary carcinoma (TPC) [MIM:188550]: A common tumor of the thyroid that typically arises as an irregular, solid or cystic mass from otherwise normal thyroid tissue. Papillary carcinomas are malignant neoplasm characterized by the formation of numerous, irregular, finger-like projections of fibrous stroma that is covered with a surface layer of neoplastic epithelial cells.
Note: The gene represented in this entry may be involved in disease pathogenesis. A chromosomal aberration involving TFG is found in thyroid papillary carcinomas. Translocation t(1;3)(q21;q11) with NTRK1. The TFG sequence is fused to the 3'-end of NTRK1 generating the TRKT3 (TRK-T3) fusion transcript.

Hereditary motor and sensory neuropathy, proximal type (HMSNP) [MIM:604484]: A neurodegenerative disorder characterized by young adult onset of proximal muscle weakness and atrophy, muscle cramps, and fasciculations, with later onset of distal sensory impairment. The disorder is slowly progressive and clinically resembles amyotrophic lateral sclerosis.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.16

Binary interactions

With

Entry

#Exp.

IntAct

Notes

PLSCR1O151622EBI-357061,EBI-740019

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q92734-1)

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.
Isoform 2 (identifier: Q92734-2)

The sequence of this isoform differs from the canonical sequence as follows:
     237-240: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 400400Protein TFG
PRO_0000072500

Regions

Coiled coil97 – 12428 Potential

Sites

Site193 – 1942Breakpoint for translocation to form TRK-T3

Amino acid modifications

Modified residue11N-acetylmethionine Ref.9 Ref.11 Ref.14
Modified residue1971Phosphoserine Ref.10 Ref.12

Natural variations

Alternative sequence237 – 2404Missing in isoform 2.
VSP_047131
Natural variant431V → F.
Corresponds to variant rs15245 [ dbSNP | Ensembl ].
VAR_059731
Natural variant1491A → S in a colorectal cancer sample; somatic mutation. Ref.15
VAR_035668
Natural variant2111A → V.
Corresponds to variant rs430945 [ dbSNP | Ensembl ].
VAR_054322
Natural variant2851P → L in HMSNP; results in mislocalization and TARDBP-inclusion-body formation in cultured cells. Ref.16
VAR_068917
Natural variant3641T → P.
Corresponds to variant rs6772054 [ dbSNP | Ensembl ].
VAR_054323

Experimental info

Sequence conflict131I → V in CAA69264. Ref.1
Sequence conflict131I → V in CAA59936. Ref.8

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified February 10, 2009. Version 2.
Checksum: D8A559D0F7314D1F

FASTA40043,448
        10         20         30         40         50         60 
MNGQLDLSGK LIIKAQLGED IRRIPIHNED ITYDELVLMM QRVFRGKLLS NDEVTIKYKD 

        70         80         90        100        110        120 
EDGDLITIFD SSDLSFAIQC SRILKLTLFV NGQPRPLESS QVKYLRRELI ELRNKVNRLL 

       130        140        150        160        170        180 
DSLEPPGEPG PSTNIPENDT VDGREEKSAS DSSGKQSTQV MAASMSAFDP LKNQDEINKN 

       190        200        210        220        230        240 
VMSAFGLTDD QVSGPPSAPA EDRSGTPDSI ASSSSAAHPP GVQPQQPPYT GAQTQAGQIE 

       250        260        270        280        290        300 
GQMYQQYQQQ AGYGAQQPQA PPQQPQQYGI QYSASYSQQT GPQQPQQFQG YGQQPTSQAP 

       310        320        330        340        350        360 
APAFSGQPQQ LPAQPPQQYQ ASNYPAQTYT AQTSQPTNYT VAPASQPGMA PSQPGAYQPR 

       370        380        390        400 
PGFTSLPGST MTPPPSGPNP YARNRPPFGQ GYTQPGPGYR 

« Hide

Isoform 2 [UniParc].

Checksum: E4FF3B134949F61C
Show »

FASTA39643,020

References

« Hide 'large scale' references
[1]"Characterization and chromosomal mapping of the human TFG gene involved in thyroid carcinoma."
Mencinger M., Panagopoluos I., Andreasson P., Lassen C., Mitelman F., Aman P.
Genomics 41:327-331(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Pancreas.
[2]"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. expand/collapse author list , 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 1).
Tissue: Testis.
[3]"Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[4]"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[5]"The DNA sequence, annotation and analysis of human chromosome 3."
Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J. expand/collapse author list , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"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 1).
Tissue: Brain, Placenta and Uterus.
[8]"The DNA rearrangement that generates the TRK-T3 oncogene involves a novel gene on chromosome 3 whose product has a potential coiled-coil domain."
Greco A., Mariani C., Miranda C., Lupas A., Pagliardini S., Pomati M., Pierotti M.A.
Mol. Cell. Biol. 15:6118-6127(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-193, CHROMOSOMAL TRANSLOCATION WITH NTRK1.
[9]Bienvenut W.V., Calvo F., Kolch W.
Submitted (FEB-2008) to UniProtKB
Cited for: PROTEIN SEQUENCE OF 1-10; 15-22; 24-42 AND 48-57, ACETYLATION AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY.
Tissue: Cervix carcinoma.
[10]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-197, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[11]"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[12]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-197, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[13]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[14]"Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T., Giglione C.
Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[15]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] SER-149.
[16]"The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement."
Ishiura H., Sako W., Yoshida M., Kawarai T., Tanabe O., Goto J., Takahashi Y., Date H., Mitsui J., Ahsan B., Ichikawa Y., Iwata A., Yoshino H., Izumi Y., Fujita K., Maeda K., Goto S., Koizumi H. expand/collapse author list , Morigaki R., Ikemura M., Yamauchi N., Murayama S., Nicholson G.A., Ito H., Sobue G., Nakagawa M., Kaji R., Tsuji S.
Am. J. Hum. Genet. 91:320-329(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HMSNP LEU-285, CHARACTERIZATION OF VARIANT HMSNP LEU-285.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
Y07968 mRNA. Translation: CAA69264.1.
AK093456 mRNA. Translation: BAG52721.1.
BT007428 mRNA. Translation: AAP36096.1.
CR456781 mRNA. Translation: CAG33062.1.
AC068763 Genomic DNA. No translation available.
CH471052 Genomic DNA. Translation: EAW79813.1.
CH471052 Genomic DNA. Translation: EAW79814.1.
CH471052 Genomic DNA. Translation: EAW79815.1.
CH471052 Genomic DNA. Translation: EAW79816.1.
CH471052 Genomic DNA. Translation: EAW79817.1.
BC001483 mRNA. Translation: AAH01483.1.
BC009241 mRNA. Translation: AAH09241.1.
BC023599 mRNA. Translation: AAH23599.1.
X85960 mRNA. Translation: CAA59936.1. Different termination.
RefSeqNP_001007566.1. NM_001007565.2.
NP_001182407.1. NM_001195478.1.
NP_001182408.1. NM_001195479.1.
NP_006061.2. NM_006070.5.
XP_005247123.1. XM_005247066.1.
UniGeneHs.518123.

3D structure databases

ProteinModelPortalQ92734.
SMRQ92734. Positions 9-89.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115624. 47 interactions.
IntActQ92734. 21 interactions.
MINTMINT-1156489.
STRING9606.ENSP00000240851.

PTM databases

PhosphoSiteQ92734.

Polymorphism databases

DMDM223634676.

Proteomic databases

PaxDbQ92734.
PRIDEQ92734.

Protocols and materials databases

DNASU10342.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000240851; ENSP00000240851; ENSG00000114354. [Q92734-1]
ENST00000418917; ENSP00000397182; ENSG00000114354. [Q92734-2]
ENST00000476228; ENSP00000417952; ENSG00000114354. [Q92734-2]
ENST00000490574; ENSP00000419960; ENSG00000114354. [Q92734-1]
GeneID10342.
KEGGhsa:10342.
UCSCuc003due.3. human. [Q92734-1]

Organism-specific databases

CTD10342.
GeneCardsGC03P100428.
H-InvDBHIX0003505.
HGNCHGNC:11758. TFG.
HPAHPA019473.
HPA052206.
MIM188550. phenotype.
602498. gene.
604484. phenotype.
neXtProtNX_Q92734.
Orphanet209916. Extraskeletal myxoid chondrosarcoma.
90117. Hereditary motor and sensory neuropathy, Okinawa type.
146. Papillary or follicular thyroid carcinoma.
320406. Spastic paraplegia-optic atrophy-neuropathy syndrome.
PharmGKBPA36473.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG85275.
HOGENOMHOG000132915.
HOVERGENHBG009087.
InParanoidQ92734.
KOK09292.
OMAIQYSAGY.
OrthoDBEOG7TXKJH.
PhylomeDBQ92734.
TreeFamTF318743.

Enzyme and pathway databases

SignaLinkQ92734.

Gene expression databases

ArrayExpressQ92734.
BgeeQ92734.
CleanExHS_TFG.
GenevestigatorQ92734.

Family and domain databases

InterProIPR000270. OPR_PB1.
[Graphical view]
PfamPF00564. PB1. 1 hit.
[Graphical view]
SMARTSM00666. PB1. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSTFG. human.
GeneWikiTFG_(gene).
GenomeRNAi10342.
NextBio18907.
PROQ92734.
SOURCESearch...

Entry information

Entry nameTFG_HUMAN
AccessionPrimary (citable) accession number: Q92734
Secondary accession number(s): D3DN49 expand/collapse secondary AC list , G5E9V1, Q15656, Q969I2
Entry history
Integrated into UniProtKB/Swiss-Prot: February 2, 2004
Last sequence update: February 10, 2009
Last modified: April 16, 2014
This is version 121 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM