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Protein

Protein TFG

Gene

TFG

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

Functioni

Plays a role in the normal dynamic function of the endoplasmic reticulum (ER) and its associated microtubules.1 Publication

GO - Molecular functioni

  • identical protein binding Source: IntAct
  • signal transducer activity Source: UniProtKB

GO - Biological processi

  • COPII vesicle coating Source: Reactome
  • positive regulation of I-kappaB kinase/NF-kappaB signaling Source: UniProtKB
Complete GO annotation...

Enzyme and pathway databases

ReactomeiR-HSA-204005. COPII (Coat Protein 2) Mediated Vesicle Transport.
SignaLinkiQ92734.
SIGNORiQ92734.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein TFG
Alternative name(s):
TRK-fused gene protein
Gene namesi
Name:TFG
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:11758. TFG.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • cytosol Source: Reactome
  • extracellular exosome Source: UniProtKB
  • Golgi membrane Source: GOC
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving TFG is found in papillary thyroid carcinomas (PTCs). 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.

Neuropathy, hereditary motor and sensory, Okinawa type (HMSNO)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:604484
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068917285P → L in HMSNO; results in mislocalization and TARDBP-inclusion-body formation in cultured cells. 1 PublicationCorresponds to variant rs207482230dbSNPEnsembl.1
Spastic paraplegia 57, autosomal recessive (SPG57)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA complicated form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations.
See also OMIM:615658
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070986106R → C in SPG57; defective self-assembly into an oligomeric complex. 1 PublicationCorresponds to variant rs587777175dbSNPEnsembl.1

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei193 – 194Breakpoint for translocation to form TRK-T32

Keywords - Diseasei

Disease mutation, Hereditary spastic paraplegia, Neurodegeneration, Neuropathy, Proto-oncogene

Organism-specific databases

DisGeNETi10342.
MalaCardsiTFG.
MIMi604484. phenotype.
615658. phenotype.
OpenTargetsiENSG00000114354.
Orphaneti209916. Extraskeletal myxoid chondrosarcoma.
90117. Hereditary motor and sensory neuropathy, Okinawa type.
146. Papillary or follicular thyroid carcinoma.
320406. Spastic paraplegia-optic atrophy-neuropathy syndrome.
PharmGKBiPA36473.

Polymorphism and mutation databases

BioMutaiTFG.
DMDMi223634676.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000725001 – 400Protein TFGAdd BLAST400

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1 Publication1
Modified residuei50PhosphoserineCombined sources1
Modified residuei197PhosphoserineCombined sources1
Modified residuei385Omega-N-methylarginineCombined sources1
Modified residuei400Omega-N-methylarginineCombined sources1

Keywords - PTMi

Acetylation, Methylation, Phosphoprotein

Proteomic databases

EPDiQ92734.
MaxQBiQ92734.
PaxDbiQ92734.
PeptideAtlasiQ92734.
PRIDEiQ92734.

PTM databases

iPTMnetiQ92734.
PhosphoSitePlusiQ92734.
SwissPalmiQ92734.

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiENSG00000114354.
CleanExiHS_TFG.
ExpressionAtlasiQ92734. baseline and differential.
GenevisibleiQ92734. HS.

Organism-specific databases

HPAiHPA019473.
HPA052206.

Interactioni

Subunit structurei

Self-associates to form an oligomeric complex.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
itself6EBI-357061,EBI-357061
ANXA11Q5T0G83EBI-357061,EBI-10245225
ARHGEF16Q5VV413EBI-357061,EBI-1057448
BOLLQ8N9W64EBI-357061,EBI-998198
CEP55D3DR373EBI-357061,EBI-10173536
CSTF2P332405EBI-357061,EBI-711360
EWSR1Q018443EBI-357061,EBI-739737
HNRNPFP525973EBI-357061,EBI-352986
MAGED1Q9Y5V37EBI-357061,EBI-716006
MAPK1IP1LQ8NDC05EBI-357061,EBI-741424
PEF1Q9UBV83EBI-357061,EBI-724639
PLSCR1O151622EBI-357061,EBI-740019
PRR20CP864794EBI-357061,EBI-10172814
RBPMSQ930623EBI-357061,EBI-740322
SEC24AO954863EBI-357061,EBI-749911
SPG21Q9NZD85EBI-357061,EBI-742688
VPS37CA5D8V63EBI-357061,EBI-2559305

GO - Molecular functioni

  • identical protein binding Source: IntAct

Protein-protein interaction databases

BioGridi115624. 121 interactors.
IntActiQ92734. 96 interactors.
MINTiMINT-1156489.
STRINGi9606.ENSP00000240851.

Structurei

3D structure databases

ProteinModelPortaliQ92734.
SMRiQ92734.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini10 – 91PB1PROSITE-ProRule annotationAdd BLAST82

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili97 – 124Sequence analysisAdd BLAST28

Sequence similaritiesi

Contains 1 PB1 domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IH8P. Eukaryota.
ENOG410Z8FQ. LUCA.
GeneTreeiENSGT00510000047809.
HOGENOMiHOG000132915.
HOVERGENiHBG009087.
InParanoidiQ92734.
KOiK09292.
OMAiANPYARN.
OrthoDBiEOG091G0O5G.
PhylomeDBiQ92734.
TreeFamiTF318743.

Family and domain databases

InterProiIPR000270. PB1_dom.
IPR033512. TFG.
[Graphical view]
PANTHERiPTHR15335. PTHR15335. 1 hit.
PfamiPF00564. PB1. 1 hit.
[Graphical view]
SMARTiSM00666. PB1. 1 hit.
[Graphical view]
PROSITEiPS51745. PB1. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q92734-1) [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
MNGQLDLSGK LIIKAQLGED IRRIPIHNED ITYDELVLMM QRVFRGKLLS
60 70 80 90 100
NDEVTIKYKD EDGDLITIFD SSDLSFAIQC SRILKLTLFV NGQPRPLESS
110 120 130 140 150
QVKYLRRELI ELRNKVNRLL DSLEPPGEPG PSTNIPENDT VDGREEKSAS
160 170 180 190 200
DSSGKQSTQV MAASMSAFDP LKNQDEINKN VMSAFGLTDD QVSGPPSAPA
210 220 230 240 250
EDRSGTPDSI ASSSSAAHPP GVQPQQPPYT GAQTQAGQIE GQMYQQYQQQ
260 270 280 290 300
AGYGAQQPQA PPQQPQQYGI QYSASYSQQT GPQQPQQFQG YGQQPTSQAP
310 320 330 340 350
APAFSGQPQQ LPAQPPQQYQ ASNYPAQTYT AQTSQPTNYT VAPASQPGMA
360 370 380 390 400
PSQPGAYQPR PGFTSLPGST MTPPPSGPNP YARNRPPFGQ GYTQPGPGYR
Length:400
Mass (Da):43,448
Last modified:February 10, 2009 - v2
Checksum:iD8A559D0F7314D1F
GO
Isoform 2 (identifier: Q92734-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     237-240: Missing.

Note: No experimental confirmation available.
Show »
Length:396
Mass (Da):43,020
Checksum:iE4FF3B134949F61C
GO
Isoform 3 (identifier: Q92734-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     274-284: ASYSQQTGPQQ → GFQSMERFHCK
     285-400: Missing.

Show »
Length:284
Mass (Da):31,349
Checksum:iCCE52A4FFE1C9208
GO
Isoform 4 (identifier: Q92734-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     237-240: Missing.
     274-284: ASYSQQTGPQQ → GFQSMERFHCK
     285-400: Missing.

Show »
Length:280
Mass (Da):30,921
Checksum:i15A1AE17A24AD3C9
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti13I → V in CAA69264 (PubMed:9169129).Curated1
Sequence conflicti13I → V in CAA59936 (PubMed:7565764).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070986106R → C in SPG57; defective self-assembly into an oligomeric complex. 1 PublicationCorresponds to variant rs587777175dbSNPEnsembl.1
Natural variantiVAR_035668149A → S in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_054322211A → V.Corresponds to variant rs430945dbSNPEnsembl.1
Natural variantiVAR_068917285P → L in HMSNO; results in mislocalization and TARDBP-inclusion-body formation in cultured cells. 1 PublicationCorresponds to variant rs207482230dbSNPEnsembl.1
Natural variantiVAR_054323364T → P.Corresponds to variant rs6772054dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_047131237 – 240Missing in isoform 2 and isoform 4. Curated4
Alternative sequenceiVSP_057414274 – 284ASYSQQTGPQQ → GFQSMERFHCK in isoform 3 and isoform 4. 1 PublicationAdd BLAST11
Alternative sequenceiVSP_057415285 – 400Missing in isoform 3 and isoform 4. 1 PublicationAdd BLAST116

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y07968 mRNA. Translation: CAA69264.1.
AB731569 mRNA. Translation: BAM48926.1.
AB731570 mRNA. Translation: BAM48927.1.
AK093456 mRNA. Translation: BAG52721.1.
BT007428 mRNA. Translation: AAP36096.1.
CR456781 mRNA. Translation: CAG33062.1.
AC068763 Genomic DNA. No translation available.
KF457659 Genomic DNA. No translation available.
KF457666 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.
CCDSiCCDS2939.1. [Q92734-1]
CCDS56266.1. [Q92734-2]
RefSeqiNP_001007566.1. NM_001007565.2. [Q92734-1]
NP_001182407.1. NM_001195478.1. [Q92734-1]
NP_001182408.1. NM_001195479.1. [Q92734-2]
NP_006061.2. NM_006070.5. [Q92734-1]
XP_005247123.1. XM_005247066.1. [Q92734-2]
XP_006713535.1. XM_006713472.1. [Q92734-1]
XP_006713536.1. XM_006713473.1. [Q92734-1]
XP_011510636.1. XM_011512334.1. [Q92734-1]
XP_016861016.1. XM_017005527.1. [Q92734-2]
XP_016861017.1. XM_017005528.1. [Q92734-2]
XP_016861018.1. XM_017005529.1. [Q92734-2]
XP_016861019.1. XM_017005530.1. [Q92734-2]
UniGeneiHs.518123.

Genome annotation databases

EnsembliENST00000240851; ENSP00000240851; ENSG00000114354. [Q92734-1]
ENST00000418917; ENSP00000397182; ENSG00000114354. [Q92734-2]
ENST00000476228; ENSP00000417952; ENSG00000114354. [Q92734-2]
ENST00000490574; ENSP00000419960; ENSG00000114354. [Q92734-1]
ENST00000615993; ENSP00000479269; ENSG00000114354. [Q92734-3]
ENST00000620299; ENSP00000479981; ENSG00000114354. [Q92734-3]
GeneIDi10342.
KEGGihsa:10342.
UCSCiuc003due.4. human. [Q92734-1]
uc031sau.2. human.

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y07968 mRNA. Translation: CAA69264.1.
AB731569 mRNA. Translation: BAM48926.1.
AB731570 mRNA. Translation: BAM48927.1.
AK093456 mRNA. Translation: BAG52721.1.
BT007428 mRNA. Translation: AAP36096.1.
CR456781 mRNA. Translation: CAG33062.1.
AC068763 Genomic DNA. No translation available.
KF457659 Genomic DNA. No translation available.
KF457666 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.
CCDSiCCDS2939.1. [Q92734-1]
CCDS56266.1. [Q92734-2]
RefSeqiNP_001007566.1. NM_001007565.2. [Q92734-1]
NP_001182407.1. NM_001195478.1. [Q92734-1]
NP_001182408.1. NM_001195479.1. [Q92734-2]
NP_006061.2. NM_006070.5. [Q92734-1]
XP_005247123.1. XM_005247066.1. [Q92734-2]
XP_006713535.1. XM_006713472.1. [Q92734-1]
XP_006713536.1. XM_006713473.1. [Q92734-1]
XP_011510636.1. XM_011512334.1. [Q92734-1]
XP_016861016.1. XM_017005527.1. [Q92734-2]
XP_016861017.1. XM_017005528.1. [Q92734-2]
XP_016861018.1. XM_017005529.1. [Q92734-2]
XP_016861019.1. XM_017005530.1. [Q92734-2]
UniGeneiHs.518123.

3D structure databases

ProteinModelPortaliQ92734.
SMRiQ92734.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115624. 121 interactors.
IntActiQ92734. 96 interactors.
MINTiMINT-1156489.
STRINGi9606.ENSP00000240851.

PTM databases

iPTMnetiQ92734.
PhosphoSitePlusiQ92734.
SwissPalmiQ92734.

Polymorphism and mutation databases

BioMutaiTFG.
DMDMi223634676.

Proteomic databases

EPDiQ92734.
MaxQBiQ92734.
PaxDbiQ92734.
PeptideAtlasiQ92734.
PRIDEiQ92734.

Protocols and materials databases

DNASUi10342.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000240851; ENSP00000240851; ENSG00000114354. [Q92734-1]
ENST00000418917; ENSP00000397182; ENSG00000114354. [Q92734-2]
ENST00000476228; ENSP00000417952; ENSG00000114354. [Q92734-2]
ENST00000490574; ENSP00000419960; ENSG00000114354. [Q92734-1]
ENST00000615993; ENSP00000479269; ENSG00000114354. [Q92734-3]
ENST00000620299; ENSP00000479981; ENSG00000114354. [Q92734-3]
GeneIDi10342.
KEGGihsa:10342.
UCSCiuc003due.4. human. [Q92734-1]
uc031sau.2. human.

Organism-specific databases

CTDi10342.
DisGeNETi10342.
GeneCardsiTFG.
H-InvDBHIX0003505.
HGNCiHGNC:11758. TFG.
HPAiHPA019473.
HPA052206.
MalaCardsiTFG.
MIMi602498. gene.
604484. phenotype.
615658. phenotype.
neXtProtiNX_Q92734.
OpenTargetsiENSG00000114354.
Orphaneti209916. Extraskeletal myxoid chondrosarcoma.
90117. Hereditary motor and sensory neuropathy, Okinawa type.
146. Papillary or follicular thyroid carcinoma.
320406. Spastic paraplegia-optic atrophy-neuropathy syndrome.
PharmGKBiPA36473.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IH8P. Eukaryota.
ENOG410Z8FQ. LUCA.
GeneTreeiENSGT00510000047809.
HOGENOMiHOG000132915.
HOVERGENiHBG009087.
InParanoidiQ92734.
KOiK09292.
OMAiANPYARN.
OrthoDBiEOG091G0O5G.
PhylomeDBiQ92734.
TreeFamiTF318743.

Enzyme and pathway databases

ReactomeiR-HSA-204005. COPII (Coat Protein 2) Mediated Vesicle Transport.
SignaLinkiQ92734.
SIGNORiQ92734.

Miscellaneous databases

ChiTaRSiTFG. human.
GeneWikiiTFG_(gene).
GenomeRNAii10342.
PROiQ92734.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000114354.
CleanExiHS_TFG.
ExpressionAtlasiQ92734. baseline and differential.
GenevisibleiQ92734. HS.

Family and domain databases

InterProiIPR000270. PB1_dom.
IPR033512. TFG.
[Graphical view]
PANTHERiPTHR15335. PTHR15335. 1 hit.
PfamiPF00564. PB1. 1 hit.
[Graphical view]
SMARTiSM00666. PB1. 1 hit.
[Graphical view]
PROSITEiPS51745. PB1. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTFG_HUMAN
AccessioniPrimary (citable) accession number: Q92734
Secondary accession number(s): D3DN49
, G5E9V1, K0J5S8, K0J6K2, Q15656, Q969I2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 2, 2004
Last sequence update: February 10, 2009
Last modified: November 30, 2016
This is version 150 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: 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.