Q92734 (TFG_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein TFG

Alternative name(s):
TRK-fused gene protein

Gene names

Name:

TFG

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	400 AA.
Sequence status	Complete.
Protein existence	Evidence 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.14

Ontologies

Keywords
Coding sequence diversity	Chromosomal rearrangement Polymorphism
Disease	Disease mutation Neurodegeneration Neuropathy Proto-oncogene
Domain	Coiled coil
PTM	Acetylation Phosphoprotein
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	cell death Inferred from electronic annotation. Source: UniProtKB-KW positive regulation of I-kappaB kinase/NF-kappaB cascade Inferred from mutant phenotype PubMed 12761501. Source: UniProtKB
Cellular_component	cytoplasm Non-traceable author statement Ref.8. Source: UniProtKB
Molecular_function	signal transducer activity Inferred from mutant phenotype PubMed 12761501. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
PLSCR1	O15162	2	EBI-357061,EBI-740019

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 400	400	Protein TFG		PRO_0000072500
Regions
	Coiled coil	97 – 124	28	Potential
Sites
	Site	193 – 194	2	Breakpoint for translocation to form TRK-T3
Amino acid modifications
	Modified residue	1	1	N-acetylmethionine Ref.9
	Modified residue	197	1	Phosphoserine Ref.10 Ref.11
Natural variations
	Natural variant	43	1	V → F. Corresponds to variant rs15245 [ dbSNP | Ensembl ].		VAR_059731
	Natural variant	149	1	A → S in a colorectal cancer sample; somatic mutation. Ref.13		VAR_035668
	Natural variant	211	1	A → V. Corresponds to variant rs430945 [ dbSNP | Ensembl ].		VAR_054322
	Natural variant	285	1	P → L in HMSNP; results in mislocalization and TARDBP-inclusion-body formation in cultured cells. Ref.14		VAR_068917
	Natural variant	364	1	T → P. Corresponds to variant rs6772054 [ dbSNP | Ensembl ].		VAR_054323
Experimental info
	Sequence conflict	13	1	I → V in CAA69264. Ref.1
	Sequence conflict	13	1	I → V in CAA59936. Ref.8

Sequences

	Sequence		Length	Mass (Da)
	Q92734 [UniParc]. Last modified February 10, 2009. Version 2. Checksum: D8A559D0F7314D1F	FASTA	400	43,448
	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

References

	« Hide 'large scale' referencesShow '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]. 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. , 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]. 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].
[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].
[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. , 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. , 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]. 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, 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, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[11]	"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, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[12]	"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].
[13]	"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. , 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.
[14]	"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. , 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.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

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. BC001483 mRNA. Translation: AAH01483.1. BC009241 mRNA. Translation: AAH09241.1. BC023599 mRNA. Translation: AAH23599.1. X85960 mRNA. Translation: CAA59936.1. Different termination.
IPI	IPI00294619.
RefSeq	NP_001007566.1. NM_001007565.2. NP_001182407.1. NM_001195478.1. NP_001182408.1. NM_001195479.1. NP_006061.2. NM_006070.5.
UniGene	Hs.518123.
3D structure databases
ProteinModelPortal	Q92734.
SMR	Q92734. Positions 9-89.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q92734. 20 interactions.
MINT	MINT-1156489.
STRING	9606.ENSP00000240851.
PTM databases
PhosphoSite	Q92734.
Polymorphism databases
DMDM	223634676.
Proteomic databases
PaxDb	Q92734.
PRIDE	Q92734.
Protocols and materials databases
DNASU	10342.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000240851; ENSP00000240851; ENSG00000114354. ENST00000490574; ENSP00000419960; ENSG00000114354.
GeneID	10342.
KEGG	hsa:10342.
UCSC	uc003due.3. human.
Organism-specific databases
CTD	10342.
GeneCards	GC03P100428.
H-InvDB	HIX0003505.
HGNC	HGNC:11758. TFG.
HPA	HPA019473.
MIM	188550. phenotype. 602498. gene. 604484. phenotype.
neXtProt	NX_Q92734.
Orphanet	146. Papillary or follicular thyroid carcinoma.
PharmGKB	PA36473.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG85275.
HOGENOM	HOG000132915.
HOVERGEN	HBG009087.
InParanoid	Q92734.
KO	K09292.
OMA	YTTQTSQ.
OrthoDB	EOG40K80D.
PhylomeDB	Q92734.
Gene expression databases
ArrayExpress	Q92734.
Bgee	Q92734.
CleanEx	HS_TFG.
Genevestigator	Q92734.
GermOnline	ENSG00000114354. Homo sapiens.
Family and domain databases
InterPro	IPR000270. OPR_PB1. [Graphical view]
Pfam	PF00564. PB1. 1 hit. [Graphical view]
SMART	SM00666. PB1. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	TFG. human.
GenomeRNAi	10342.
NextBio	18907.
SOURCE	Search...

Entry information

Entry name

TFG_HUMAN

Accession

Primary (citable) accession number: Q92734
Secondary accession number(s): D3DN49, Q15656, Q969I2

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 2, 2004
Last sequence update:	February 10, 2009
Last modified:	May 1, 2013
This is version 110 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.