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Protein

General transcription factor II-I

Gene

GTF2I

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

Functioni

Interacts with the basal transcription machinery by coordinating the formation of a multiprotein complex at the C-FOS promoter, and linking specific signal responsive activator complexes. Promotes the formation of stable high-order complexes of SRF and PHOX1 and interacts cooperatively with PHOX1 to promote serum-inducible transcription of a reporter gene deriven by the C-FOS serum response element (SRE). Acts as a coregulator for USF1 by binding independently two promoter elements, a pyrimidine-rich initiator (Inr) and an upstream E-box. Required for the formation of functional ARID3A DNA-binding complexes and for activation of immunoglobulin heavy-chain transcription upon B-lymphocyte activation.3 Publications

GO - Molecular functioni

  • DNA binding Source: UniProtKB-KW
  • DNA-binding transcription factor activity Source: ProtInc

GO - Biological processi

Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SIGNORiP78347

Names & Taxonomyi

Protein namesi
Recommended name:
General transcription factor II-I
Short name:
GTFII-I
Short name:
TFII-I
Alternative name(s):
Bruton tyrosine kinase-associated protein 135
Short name:
BAP-135
Short name:
BTK-associated protein 135
SRF-Phox1-interacting protein
Short name:
SPIN
Williams-Beuren syndrome chromosomal region 6 protein
Gene namesi
Name:GTF2I
Synonyms:BAP135, WBSCR6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000263001.5
HGNCiHGNC:4659 GTF2I
MIMi601679 gene
neXtProtiNX_P78347

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

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

GTF2I is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of GTF2I may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi248Y → F: Abolishes BTK-mediated transcriptional activation. Abolishes BTK-mediated phosphorylation and impairs BTK-mediated transcriptional activation; when associated with F-398 and F-503. 1 Publication1
Mutagenesisi398Y → F: Abolishes BTK-mediated transcriptional activation. Abolishes BTK-mediated phosphorylation and impairs BTK-mediated transcriptional activation; when associated with F-248 and F-503. 1 Publication1
Mutagenesisi460Y → F: No change on BTK-mediated transcriptional activation. 1 Publication1
Mutagenesisi503Y → F: Impairs BTK-mediated transcriptional activation. Abolishes BTK-mediated phosphorylation and impairs BTK-mediated transcriptional activation; when associated with F-248 and F-398. 1 Publication1

Keywords - Diseasei

Williams-Beuren syndrome

Organism-specific databases

DisGeNETi2969
MalaCardsiGTF2I
OpenTargetsiENSG00000263001
Orphaneti904 Williams syndrome
PharmGKBiPA29045

Polymorphism and mutation databases

BioMutaiGTF2I
DMDMi17865459

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources1 Publication
ChainiPRO_00000838722 – 998General transcription factor II-IAdd BLAST997

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1 Publication1
Modified residuei19PhosphoserineCombined sources1
Cross-linki35Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki86Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki92Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki94Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei103PhosphoserineCombined sources1
Modified residuei130N6-acetyllysine; alternateBy similarity1
Cross-linki130Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Cross-linki140Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki185Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei207PhosphoserineCombined sources1
Modified residuei210PhosphoserineCombined sources1
Modified residuei214PhosphoserineCombined sources1
Cross-linki219Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki221Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources
Cross-linki221Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Modified residuei248Phosphotyrosine; by BTK2 Publications1
Cross-linki326Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki343Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei353N6-acetyllysine; alternateBy similarity1
Cross-linki353Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Cross-linki380Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei398Phosphotyrosine; by BTK1 Publication1
Modified residuei412Phosphoserine; by PKG/PRKG1Combined sources1 Publication1
Cross-linki435Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei450N6-acetyllysine; alternateBy similarity1
Cross-linki450Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Cross-linki456Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki488Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki494Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei503Phosphotyrosine; by BTK1 Publication1
Modified residuei517PhosphoserineCombined sources1
Cross-linki526Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei556PhosphothreonineBy similarity1
Modified residuei558PhosphothreonineCombined sources1
Cross-linki561Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki660Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki664Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei668PhosphoserineCombined sources1
Cross-linki670Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei674PhosphoserineCombined sources1
Cross-linki680Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei715N6-acetyllysine; alternateBy similarity1
Cross-linki715Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Modified residuei722PhosphoserineCombined sources1
Modified residuei784Phosphoserine; by PKG/PRKG1Combined sources1 Publication1
Cross-linki816Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei823PhosphoserineCombined sources1
Cross-linki827Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki861Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki864Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki879Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki891Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki991Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources
Cross-linki991Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Isoform 2 (identifier: P78347-2)
Modified residuei278PhosphoserineCombined sources1
Isoform 4 (identifier: P78347-4)
Modified residuei298PhosphoserineCombined sources1

Post-translational modificationi

Transiently phosphorylated on tyrosine residues by BTK in response to B-cell receptor stimulation. Phosphorylation on Tyr-248 and Tyr-398, and perhaps, on Tyr-503 contributes to BTK-mediated transcriptional activation.4 Publications
Sumoylated.1 Publication

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiP78347
PaxDbiP78347
PeptideAtlasiP78347
PRIDEiP78347
ProteomicsDBi57578
57579 [P78347-2]
57580 [P78347-3]
57581 [P78347-4]

PTM databases

iPTMnetiP78347
PhosphoSitePlusiP78347
SwissPalmiP78347

Expressioni

Tissue specificityi

Ubiquitous. Isoform 1 is strongly expressed in fetal brain, weakly in adult brain, muscle, and lymphoblasts and is almost undetectable in other adult tissues, while the other isoforms are equally expressed in all adult tissues.

Gene expression databases

BgeeiENSG00000263001 Expressed in 185 organ(s), highest expression level in corpus callosum
CleanExiHS_GTF2I
ExpressionAtlasiP78347 baseline and differential
GenevisibleiP78347 HS

Organism-specific databases

HPAiCAB004595
HPA026638

Interactioni

Subunit structurei

Homodimer (Potential). Interacts with SRF and PHOX1. Binds a pyrimidine-rich initiator (Inr) and a recognition site (E-box) for upstream stimulatory factor 1 (USF1). Associates with the PH domain of Bruton's tyrosine kinase (BTK). May be a component of a BHC histone deacetylase complex that contains HDAC1, HDAC2, HMG20B/BRAF35, KDM1A, RCOR1/CoREST, PHF21A/BHC80, ZMYM2, ZNF217, ZMYM3, GSE1 and GTF2I. Interacts with BTK and ARID3A. Interacts with isoform beta of PRKG1.Curated4 Publications

Binary interactionsi

Protein-protein interaction databases

BioGridi109224, 126 interactors
CORUMiP78347
DIPiDIP-24252N
IntActiP78347, 47 interactors
MINTiP78347
STRINGi9606.ENSP00000322542

Structurei

Secondary structure

1998
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP78347
SMRiP78347
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP78347

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati103 – 197GTF2I-like 1Add BLAST95
Repeati352 – 446GTF2I-like 2Add BLAST95
Repeati457 – 551GTF2I-like 3Add BLAST95
Repeati562 – 656GTF2I-like 4Add BLAST95
Repeati724 – 818GTF2I-like 5Add BLAST95
Repeati859 – 953GTF2I-like 6Add BLAST95

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi320 – 327Nuclear localization signalSequence analysis8

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi692 – 695Poly-Asn4

Sequence similaritiesi

Belongs to the TFII-I family.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410IEPZ Eukaryota
ENOG41100H8 LUCA
GeneTreeiENSGT00530000063863
HOGENOMiHOG000147161
HOVERGENiHBG060917
InParanoidiP78347
KOiK03121
OMAiMPPGVAF
OrthoDBiEOG091G01ZC
PhylomeDBiP78347
TreeFamiTF352524

Family and domain databases

Gene3Di3.90.1460.10, 6 hits
InterProiView protein in InterPro
IPR004212 GTF2I
IPR036647 GTF2I-like_rpt_sf
IPR016659 TF_II-I
IPR026625 TFII-I-rel
PANTHERiPTHR11697 PTHR11697, 3 hits
PfamiView protein in Pfam
PF02946 GTF2I, 6 hits
PIRSFiPIRSF016441 TF_II-I, 1 hit
SUPFAMiSSF117773 SSF117773, 6 hits
PROSITEiView protein in PROSITE
PS51139 GTF2I, 6 hits

Sequences (5+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: P78347-1) [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
MAQVAMSTLP VEDEESSESR MVVTFLMSAL ESMCKELAKS KAEVACIAVY
60 70 80 90 100
ETDVFVVGTE RGRAFVNTRK DFQKDFVKYC VEEEEKAAEM HKMKSTTQAN
110 120 130 140 150
RMSVDAVEIE TLRKTVEDYF CFCYGKALGK STVVPVPYEK MLRDQSAVVV
160 170 180 190 200
QGLPEGVAFK HPENYDLATL KWILENKAGI SFIIKRPFLE PKKHVGGRVM
210 220 230 240 250
VTDADRSILS PGGSCGPIKV KTEPTEDSGI SLEMAAVTVK EESEDPDYYQ
260 270 280 290 300
YNIQAGPSET DDVDEKQPLS KPLQGSHHSS EGNEGTEMEV PAEDSTQHVP
310 320 330 340 350
SETSEDPEVE VTIEDDDYSP PSKRPKANEL PQPPVPEPAN AGKRKVREFN
360 370 380 390 400
FEKWNARITD LRKQVEELFE RKYAQAIKAK GPVTIPYPLF QSHVEDLYVE
410 420 430 440 450
GLPEGIPFRR PSTYGIPRLE RILLAKERIR FVIKKHELLN STREDLQLDK
460 470 480 490 500
PASGVKEEWY ARITKLRKMV DQLFCKKFAE ALGSTEAKAV PYQKFEAHPN
510 520 530 540 550
DLYVEGLPEN IPFRSPSWYG IPRLEKIIQV GNRIKFVIKR PELLTHSTTE
560 570 580 590 600
VTQPRTNTPV KEDWNVRITK LRKQVEEIFN LKFAQALGLT EAVKVPYPVF
610 620 630 640 650
ESNPEFLYVE GLPEGIPFRS PTWFGIPRLE RIVRGSNKIK FVVKKPELVI
660 670 680 690 700
SYLPPGMASK INTKALQSPK RPRSPGSNSK VPEIEVTVEG PNNNNPQTSA
710 720 730 740 750
VRTPTQTNGS NVPFKPRGRE FSFEAWNAKI TDLKQKVENL FNEKCGEALG
760 770 780 790 800
LKQAVKVPFA LFESFPEDFY VEGLPEGVPF RRPSTFGIPR LEKILRNKAK
810 820 830 840 850
IKFIIKKPEM FETAIKESTS SKSPPRKINS SPNVNTTASG VEDLNIIQVT
860 870 880 890 900
IPDDDNERLS KVEKARQLRE QVNDLFSRKF GEAIGMGFPV KVPYRKITIN
910 920 930 940 950
PGCVVVDGMP PGVSFKAPSY LEISSMRRIL DSAEFIKFTV IRPFPGLVIN
960 970 980 990
NQLVDQSESE GPVIQESAEP SQLEVPATEE IKETDGSSQI KQEPDPTW
Length:998
Mass (Da):112,416
Last modified:December 13, 2001 - v2
Checksum:i4CFA2C19002869B9
GO
Isoform 2 (identifier: P78347-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     255-274: Missing.
     294-314: Missing.

Show »
Length:957
Mass (Da):107,970
Checksum:iE091B620FF633AC8
GO
Isoform 3 (identifier: P78347-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     255-274: Missing.

Show »
Length:978
Mass (Da):110,280
Checksum:i1F006D480F0BE702
GO
Isoform 4 (identifier: P78347-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     294-314: Missing.

Show »
Length:977
Mass (Da):110,106
Checksum:i418D59EC623E6141
GO
Isoform 5 (identifier: P78347-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     255-274: Missing.
     294-294: D → G
     295-998: Missing.

Note: No experimental confirmation available.
Show »
Length:274
Mass (Da):30,409
Checksum:iC693096D47E9CDC7
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9J6M0C9J6M0_HUMAN
General transcription factor II-I
GTF2I
106Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti174L → G in AAB48826 (PubMed:9012831).Curated1
Sequence conflicti178A → G in AAB48826 (PubMed:9012831).Curated1
Sequence conflicti481A → R in AAB70791 (PubMed:9384587).Curated1
Sequence conflicti634R → H in AAB48826 (PubMed:9012831).Curated1
Sequence conflicti960E → K in AAB48826 (PubMed:9012831).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_051026174L → V. Corresponds to variant dbSNP:rs1057896Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_003867255 – 274Missing in isoform 2, isoform 3 and isoform 5. 6 PublicationsAdd BLAST20
Alternative sequenceiVSP_003868294 – 314Missing in isoform 2 and isoform 4. 5 PublicationsAdd BLAST21
Alternative sequenceiVSP_055195294D → G in isoform 5. 2 Publications1
Alternative sequenceiVSP_055196295 – 998Missing in isoform 5. 2 PublicationsAdd BLAST704

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF015553 mRNA Translation: AAB70791.1
Y14946 mRNA Translation: CAA75163.1
U77948 mRNA Translation: AAB48826.1
AF035737 mRNA Translation: AAC08312.1
AF038967 mRNA Translation: AAC08313.1
AF038968 mRNA Translation: AAC08314.1
AF038969 mRNA Translation: AAC08315.1
BT007450 mRNA Translation: AAP36118.1
AC005231 Genomic DNA No translation available.
AC083884 Genomic DNA Translation: AAS07460.1
AC083884 Genomic DNA Translation: AAS07461.1
AC083884 Genomic DNA Translation: AAS07462.1
AC083884 Genomic DNA Translation: AAS07463.1
AC083884 Genomic DNA Translation: AAS07464.1
AC004883 Genomic DNA Translation: AAL93085.1
CH471200 Genomic DNA Translation: EAW69598.1
BC004472 mRNA Translation: AAH04472.1
BC070484 mRNA Translation: AAH70484.1
CCDSiCCDS47614.1 [P78347-2]
CCDS5573.1 [P78347-1]
CCDS5574.1 [P78347-3]
CCDS5575.1 [P78347-4]
CCDS64680.1 [P78347-5]
PIRiT03829
T09492
RefSeqiNP_001157108.1, NM_001163636.2
NP_001267729.1, NM_001280800.1 [P78347-5]
NP_001509.3, NM_001518.4 [P78347-2]
NP_127492.1, NM_032999.3 [P78347-1]
NP_127493.1, NM_033000.3 [P78347-3]
NP_127494.1, NM_033001.3 [P78347-4]
UniGeneiHs.647041
Hs.654705
Hs.743231

Genome annotation databases

EnsembliENST00000443166; ENSP00000404240; ENSG00000263001 [P78347-5]
ENST00000573035; ENSP00000460070; ENSG00000263001 [P78347-1]
ENST00000614986; ENSP00000484526; ENSG00000263001 [P78347-3]
ENST00000620879; ENSP00000477837; ENSG00000263001 [P78347-2]
ENST00000621734; ENSP00000482476; ENSG00000263001 [P78347-4]
GeneIDi2969
KEGGihsa:2969
UCSCiuc003uat.5 human [P78347-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF015553 mRNA Translation: AAB70791.1
Y14946 mRNA Translation: CAA75163.1
U77948 mRNA Translation: AAB48826.1
AF035737 mRNA Translation: AAC08312.1
AF038967 mRNA Translation: AAC08313.1
AF038968 mRNA Translation: AAC08314.1
AF038969 mRNA Translation: AAC08315.1
BT007450 mRNA Translation: AAP36118.1
AC005231 Genomic DNA No translation available.
AC083884 Genomic DNA Translation: AAS07460.1
AC083884 Genomic DNA Translation: AAS07461.1
AC083884 Genomic DNA Translation: AAS07462.1
AC083884 Genomic DNA Translation: AAS07463.1
AC083884 Genomic DNA Translation: AAS07464.1
AC004883 Genomic DNA Translation: AAL93085.1
CH471200 Genomic DNA Translation: EAW69598.1
BC004472 mRNA Translation: AAH04472.1
BC070484 mRNA Translation: AAH70484.1
CCDSiCCDS47614.1 [P78347-2]
CCDS5573.1 [P78347-1]
CCDS5574.1 [P78347-3]
CCDS5575.1 [P78347-4]
CCDS64680.1 [P78347-5]
PIRiT03829
T09492
RefSeqiNP_001157108.1, NM_001163636.2
NP_001267729.1, NM_001280800.1 [P78347-5]
NP_001509.3, NM_001518.4 [P78347-2]
NP_127492.1, NM_032999.3 [P78347-1]
NP_127493.1, NM_033000.3 [P78347-3]
NP_127494.1, NM_033001.3 [P78347-4]
UniGeneiHs.647041
Hs.654705
Hs.743231

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2D9BNMR-A102-197[»]
2DN4NMR-A361-446[»]
2ED2NMR-A466-551[»]
2EJENMR-A854-954[»]
ProteinModelPortaliP78347
SMRiP78347
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109224, 126 interactors
CORUMiP78347
DIPiDIP-24252N
IntActiP78347, 47 interactors
MINTiP78347
STRINGi9606.ENSP00000322542

PTM databases

iPTMnetiP78347
PhosphoSitePlusiP78347
SwissPalmiP78347

Polymorphism and mutation databases

BioMutaiGTF2I
DMDMi17865459

Proteomic databases

EPDiP78347
PaxDbiP78347
PeptideAtlasiP78347
PRIDEiP78347
ProteomicsDBi57578
57579 [P78347-2]
57580 [P78347-3]
57581 [P78347-4]

Protocols and materials databases

DNASUi2969
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000443166; ENSP00000404240; ENSG00000263001 [P78347-5]
ENST00000573035; ENSP00000460070; ENSG00000263001 [P78347-1]
ENST00000614986; ENSP00000484526; ENSG00000263001 [P78347-3]
ENST00000620879; ENSP00000477837; ENSG00000263001 [P78347-2]
ENST00000621734; ENSP00000482476; ENSG00000263001 [P78347-4]
GeneIDi2969
KEGGihsa:2969
UCSCiuc003uat.5 human [P78347-1]

Organism-specific databases

CTDi2969
DisGeNETi2969
EuPathDBiHostDB:ENSG00000263001.5
GeneCardsiGTF2I
H-InvDBiHIX0023260
HGNCiHGNC:4659 GTF2I
HPAiCAB004595
HPA026638
MalaCardsiGTF2I
MIMi601679 gene
neXtProtiNX_P78347
OpenTargetsiENSG00000263001
Orphaneti904 Williams syndrome
PharmGKBiPA29045
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IEPZ Eukaryota
ENOG41100H8 LUCA
GeneTreeiENSGT00530000063863
HOGENOMiHOG000147161
HOVERGENiHBG060917
InParanoidiP78347
KOiK03121
OMAiMPPGVAF
OrthoDBiEOG091G01ZC
PhylomeDBiP78347
TreeFamiTF352524

Enzyme and pathway databases

SIGNORiP78347

Miscellaneous databases

ChiTaRSiGTF2I human
EvolutionaryTraceiP78347
GeneWikiiGTF2I
GenomeRNAii2969
PROiPR:P78347
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000263001 Expressed in 185 organ(s), highest expression level in corpus callosum
CleanExiHS_GTF2I
ExpressionAtlasiP78347 baseline and differential
GenevisibleiP78347 HS

Family and domain databases

Gene3Di3.90.1460.10, 6 hits
InterProiView protein in InterPro
IPR004212 GTF2I
IPR036647 GTF2I-like_rpt_sf
IPR016659 TF_II-I
IPR026625 TFII-I-rel
PANTHERiPTHR11697 PTHR11697, 3 hits
PfamiView protein in Pfam
PF02946 GTF2I, 6 hits
PIRSFiPIRSF016441 TF_II-I, 1 hit
SUPFAMiSSF117773 SSF117773, 6 hits
PROSITEiView protein in PROSITE
PS51139 GTF2I, 6 hits
ProtoNetiSearch...

Entry informationi

Entry nameiGTF2I_HUMAN
AccessioniPrimary (citable) accession number: P78347
Secondary accession number(s): O14743
, O15359, O43546, O43588, O43589, Q75M85, Q75M86, Q75M87, Q75M88, Q86U51, Q9BSZ4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 13, 2001
Last sequence update: December 13, 2001
Last modified: November 7, 2018
This is version 192 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

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
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