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UniProtKB - P78347 (GTF2I_HUMAN)

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Protein

General transcription factor II-I

Gene

GTF2I

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

Complete GO annotation...

GO - Biological processi

  • negative regulation of angiogenesis Source: MGI
  • negative regulation of cytosolic calcium ion concentration Source: Ensembl
  • signal transduction Source: ProtInc
  • transcription from RNA polymerase II promoter Source: ProtInc
  • transcription initiation from RNA polymerase II promoter Source: ProtInc
  • transition between slow and fast fiber Source: Ensembl
Complete GO annotation...

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:4659. GTF2I.

Subcellular locationi

GO - Cellular componenti

  • cell projection Source: Ensembl
  • cytoplasm Source: GO_Central
  • membrane Source: UniProtKB
  • neuronal cell body Source: Ensembl
  • nucleoplasm Source: HPA
  • nucleus Source: MGI
Complete GO annotation...

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-linki86Glycyl 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
Modified residuei207PhosphoserineCombined sources1
Modified residuei210PhosphoserineCombined sources1
Modified residuei214PhosphoserineCombined sources1
Cross-linki221Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)Combined sources
Cross-linki221Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei248Phosphotyrosine; by BTK2 Publications1
Modified residuei318Phosphotyrosine; by BTK1 Publication1
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
Modified residuei398Phosphotyrosine; by BTK1 Publication1
Modified residuei412Phosphoserine; by PKG/PRKG1Combined sources1 Publication1
Modified residuei450N6-acetyllysineBy similarity1
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
Modified residuei503Phosphotyrosine; by BTK1 Publication1
Modified residuei517PhosphoserineCombined sources1
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
Modified residuei674PhosphoserineCombined sources1
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-linki991Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)Combined sources
Cross-linki991Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined 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.

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

BgeeiENSG00000077809.
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

Show more details

GO - Molecular functioni

Complete GO annotation...

Protein-protein interaction databases

BioGridi109224. 113 interactors.
DIPiDIP-24252N.
IntActiP78347. 43 interactors.
MINTiMINT-1138992.
STRINGi9606.ENSP00000322542.

Structurei

Secondary structure

1998
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi106 – 128Combined sources23
Helixi138 – 143Combined sources6
Beta strandi146 – 152Combined sources7
Helixi167 – 175Combined sources9
Turni176 – 179Combined sources4
Beta strandi181 – 185Combined sources5
Helixi361 – 376Combined sources16
Helixi387 – 392Combined sources6
Turni393 – 396Combined sources4
Beta strandi397 – 401Combined sources5
Turni411 – 413Combined sources3
Helixi416 – 424Combined sources9
Turni426 – 428Combined sources3
Beta strandi430 – 434Combined sources5
Turni437 – 439Combined sources3
Helixi466 – 482Combined sources17
Helixi492 – 497Combined sources6
Turni499 – 501Combined sources3
Beta strandi502 – 506Combined sources5
Turni516 – 518Combined sources3
Helixi521 – 529Combined sources9
Turni530 – 533Combined sources4
Beta strandi535 – 539Combined sources5
Helixi541 – 544Combined sources4
Turni856 – 858Combined sources3
Helixi861 – 883Combined sources23
Helixi894 – 899Combined sources6
Beta strandi901 – 907Combined sources7
Turni918 – 920Combined sources3
Helixi923 – 931Combined sources9
Turni932 – 935Combined sources4
Beta strandi937 – 942Combined sources6

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...

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.
HOVERGENiHBG051856.
InParanoidiP78347.
KOiK03121.
OMAiMPPGVAF.
OrthoDBiEOG091G01ZC.
PhylomeDBiP78347.
TreeFamiTF352524.

Family and domain databases

Gene3Di3.90.1460.10. 6 hits.
InterProiView protein in InterPro
IPR004212. GTF2I.
IPR016659. TF_II-I.
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

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

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

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.

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: June 7, 2017
This is version 179 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. Human chromosome 7
    Human chromosome 7: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families