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Protein

Protein TFG

Gene

TFG

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

Functioni

Plays a role in the normal dynamic function of the endoplasmic reticulum (ER) and its associated microtubules (PubMed:23479643, PubMed:27813252).2 Publications

GO - Molecular functioni

  • identical protein binding Source: IntAct

GO - Biological processi

  • COPII vesicle coating Source: Reactome
  • ER to Golgi vesicle-mediated transport Source: UniProtKB
  • positive regulation of I-kappaB kinase/NF-kappaB signaling Source: UniProtKB

Enzyme and pathway databases

ReactomeiR-HSA-204005 COPII-mediated vesicle transport
SignaLinkiQ92734
SIGNORiQ92734

Protein family/group databases

MoonDBiQ92734 Predicted

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

EuPathDBiHostDB:ENSG00000114354.12
HGNCiHGNC:11758 TFG
MIMi602498 gene
neXtProtiNX_Q92734

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Endoplasmic reticulum

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.1 Publication
Neuropathy, hereditary motor and sensory, Okinawa type (HMSNO)2 Publications
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; does not affect interaction with PDCD6. 2 PublicationsCorresponds to variant dbSNP:rs207482230EnsemblClinVar.1
Spastic paraplegia 57, autosomal recessive (SPG57)3 Publications
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; impaired interaction with PDCD6; causes mitochondrial fragmentation. 3 PublicationsCorresponds to variant dbSNP:rs587777175EnsemblClinVar.1
Natural variantiVAR_078075106R → H in SPG57; causes mitochondrial fragmentation. 1 PublicationCorresponds to variant dbSNP:rs376971794Ensembl.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
Orphaneti435819 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation
431329 Autosomal recessive spastic paraplegia type 57
146 Differentiated thyroid carcinoma
209916 Extraskeletal myxoid chondrosarcoma
90117 Hereditary motor and sensory neuropathy, Okinawa type
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
ProteomicsDBi75430

PTM databases

iPTMnetiQ92734
PhosphoSitePlusiQ92734
SwissPalmiQ92734

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiENSG00000114354 Expressed in 221 organ(s), highest expression level in secondary oocyte
CleanExiHS_TFG
ExpressionAtlasiQ92734 baseline and differential
GenevisibleiQ92734 HS

Organism-specific databases

HPAiHPA019473
HPA052206

Interactioni

Subunit structurei

Self-associates to form an oligomeric complex (PubMed:23479643). Interacts with PDCD6; promoting localization and polymerization of TFG at endoplasmic reticulum exit site.2 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi115624, 126 interactors
IntActiQ92734, 134 interactors
MINTiQ92734
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

Keywords - Domaini

Coiled coil

Phylogenomic databases

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

Family and domain databases

CDDicd06401 PB1_TFG, 1 hit
InterProiView protein in InterPro
IPR000270 PB1_dom
IPR034857 PB1_TFG
IPR033512 TFG
PANTHERiPTHR15335 PTHR15335, 1 hit
PfamiView protein in Pfam
PF00564 PB1, 1 hit
SMARTiView protein in SMART
SM00666 PB1, 1 hit
PROSITEiView protein in PROSITE
PS51745 PB1, 1 hit

Sequences (4+)i

Sequence statusi: Complete.

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

This entry has 4 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JTY3C9JTY3_HUMAN
Protein TFG
TFG
128Annotation score:
C9JJP5C9JJP5_HUMAN
Protein TFG
TFG
181Annotation score:
C9JUE0C9JUE0_HUMAN
Protein TFG
TFG
157Annotation score:

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; impaired interaction with PDCD6; causes mitochondrial fragmentation. 3 PublicationsCorresponds to variant dbSNP:rs587777175EnsemblClinVar.1
Natural variantiVAR_078075106R → H in SPG57; causes mitochondrial fragmentation. 1 PublicationCorresponds to variant dbSNP:rs376971794Ensembl.1
Natural variantiVAR_035668149A → S in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_054322211A → V. Corresponds to variant dbSNP:rs430945Ensembl.1
Natural variantiVAR_068917285P → L in HMSNO; does not affect interaction with PDCD6. 2 PublicationsCorresponds to variant dbSNP:rs207482230EnsemblClinVar.1
Natural variantiVAR_054323364T → P. Corresponds to variant dbSNP:rs6772054EnsemblClinVar.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
XP_011510636.1, XM_011512334.1 [Q92734-1]
XP_016861016.1, XM_017005527.1 [Q92734-2]
XP_016861017.1, XM_017005528.1
XP_016861018.1, XM_017005529.1
XP_016861019.1, XM_017005530.1
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

Similar proteinsi

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
XP_011510636.1, XM_011512334.1 [Q92734-1]
XP_016861016.1, XM_017005527.1 [Q92734-2]
XP_016861017.1, XM_017005528.1
XP_016861018.1, XM_017005529.1
XP_016861019.1, XM_017005530.1
UniGeneiHs.518123

3D structure databases

ProteinModelPortaliQ92734
SMRiQ92734
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115624, 126 interactors
IntActiQ92734, 134 interactors
MINTiQ92734
STRINGi9606.ENSP00000240851

Protein family/group databases

MoonDBiQ92734 Predicted

PTM databases

iPTMnetiQ92734
PhosphoSitePlusiQ92734
SwissPalmiQ92734

Polymorphism and mutation databases

BioMutaiTFG
DMDMi223634676

Proteomic databases

EPDiQ92734
MaxQBiQ92734
PaxDbiQ92734
PeptideAtlasiQ92734
PRIDEiQ92734
ProteomicsDBi75430

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
EuPathDBiHostDB:ENSG00000114354.12
GeneCardsiTFG
H-InvDBiHIX0003505
HGNCiHGNC:11758 TFG
HPAiHPA019473
HPA052206
MalaCardsiTFG
MIMi602498 gene
604484 phenotype
615658 phenotype
neXtProtiNX_Q92734
OpenTargetsiENSG00000114354
Orphaneti435819 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation
431329 Autosomal recessive spastic paraplegia type 57
146 Differentiated thyroid carcinoma
209916 Extraskeletal myxoid chondrosarcoma
90117 Hereditary motor and sensory neuropathy, Okinawa type
PharmGKBiPA36473
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

ReactomeiR-HSA-204005 COPII-mediated vesicle transport
SignaLinkiQ92734
SIGNORiQ92734

Miscellaneous databases

ChiTaRSiTFG human
GeneWikiiTFG_(gene)
GenomeRNAii10342
PROiPR:Q92734
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000114354 Expressed in 221 organ(s), highest expression level in secondary oocyte
CleanExiHS_TFG
ExpressionAtlasiQ92734 baseline and differential
GenevisibleiQ92734 HS

Family and domain databases

CDDicd06401 PB1_TFG, 1 hit
InterProiView protein in InterPro
IPR000270 PB1_dom
IPR034857 PB1_TFG
IPR033512 TFG
PANTHERiPTHR15335 PTHR15335, 1 hit
PfamiView protein in Pfam
PF00564 PB1, 1 hit
SMARTiView protein in SMART
SM00666 PB1, 1 hit
PROSITEiView protein in PROSITE
PS51745 PB1, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTFG_HUMAN
AccessioniPrimary (citable) accession number: Q92734
Secondary accession number(s): D3DN49
, G5E9V1, K0J5S8, K0J6K2, Q15656, Q969I2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 2, 2004
Last sequence update: February 10, 2009
Last modified: November 7, 2018
This is version 169 of the entry and version 2 of the sequence. See 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
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