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Protein

General transcription factor II-I repeat domain-containing protein 1

Gene

GTF2IRD1

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

Functioni

May be a transcription regulator involved in cell-cycle progression and skeletal muscle differentiation. May repress GTF2I transcriptional functions, by preventing its nuclear residency, or by inhibiting its transcriptional activation. May contribute to slow-twitch fiber type specificity during myogenesis and in regenerating muscles. Binds troponin I slow-muscle fiber enhancer (USE B1). Binds specifically and with high affinity to the EFG sequences derived from the early enhancer of HOXC8 (By similarity).By similarity1 Publication

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000006704-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
General transcription factor II-I repeat domain-containing protein 1
Short name:
GTF2I repeat domain-containing protein 1
Alternative name(s):
General transcription factor III
MusTRD1/BEN
Muscle TFII-I repeat domain-containing protein 1
Slow-muscle-fiber enhancer-binding protein
USE B1-binding protein
Williams-Beuren syndrome chromosomal region 11 protein
Williams-Beuren syndrome chromosomal region 12 protein
Gene namesi
Name:GTF2IRD1
Synonyms:CREAM1, GTF3, MUSTRD1, RBAP2, WBSCR11, WBSCR12
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:4661. GTF2IRD1.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: HPA
  • nucleoplasm Source: HPA
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

GTF2IRD1 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 GTF2IRD1 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi898 – 959Missing : Cytoplasmic localization. 1 PublicationAdd BLAST62

Keywords - Diseasei

Williams-Beuren syndrome

Organism-specific databases

DisGeNETi9569.
MalaCardsiGTF2IRD1.
OpenTargetsiENSG00000006704.
Orphaneti904. Williams syndrome.
PharmGKBiPA29047.

Polymorphism and mutation databases

BioMutaiGTF2IRD1.
DMDMi21263630.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000838701 – 959General transcription factor II-I repeat domain-containing protein 1Add BLAST959

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki212Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki225Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki271Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki308Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki337Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki436Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki443Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei448PhosphoserineCombined sources1
Cross-linki579Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki638Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki684Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki724Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki787Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki829Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki889Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Isoform 2 (identifier: Q9UHL9-2)
Modified residuei654PhosphoserineCombined sources1
Isoform 3 (identifier: Q9UHL9-3)
Modified residuei686PhosphoserineCombined sources1

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

PaxDbiQ9UHL9.
PeptideAtlasiQ9UHL9.
PRIDEiQ9UHL9.

PTM databases

iPTMnetiQ9UHL9.
PhosphoSitePlusiQ9UHL9.

Expressioni

Tissue specificityi

Highly expressed in adult skeletal muscle, heart, fibroblast, bone and fetal tissues. Expressed at lower levels in all other tissues tested.

Developmental stagei

Highly expressed in developing and regenerating muscles, at the time of myofiber diversification.

Gene expression databases

BgeeiENSG00000006704.
CleanExiHS_GTF2IRD1.
ExpressionAtlasiQ9UHL9. baseline and differential.
GenevisibleiQ9UHL9. HS.

Organism-specific databases

HPAiHPA044254.

Interactioni

Subunit structurei

Interacts with the retinoblastoma protein (RB1) via its C-terminus.1 Publication

Protein-protein interaction databases

BioGridi114939. 27 interactors.
IntActiQ9UHL9. 12 interactors.
MINTiMINT-1209004.
STRINGi9606.ENSP00000397566.

Structurei

Secondary structure

1959
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi128 – 144Combined sources17
Helixi154 – 159Combined sources6
Turni161 – 163Combined sources3
Beta strandi164 – 168Combined sources5
Turni178 – 180Combined sources3
Helixi183 – 192Combined sources10
Turni193 – 195Combined sources3
Beta strandi197 – 203Combined sources7
Helixi565 – 580Combined sources16
Helixi591 – 596Combined sources6
Turni598 – 600Combined sources3
Beta strandi601 – 605Combined sources5
Turni615 – 617Combined sources3
Helixi620 – 628Combined sources9
Turni629 – 632Combined sources4
Beta strandi634 – 638Combined sources5
Helixi640 – 642Combined sources3
Helixi705 – 721Combined sources17
Helixi731 – 736Combined sources6
Beta strandi738 – 745Combined sources8
Helixi755 – 757Combined sources3
Helixi760 – 769Combined sources10
Turni770 – 772Combined sources3
Beta strandi774 – 777Combined sources4
Helixi802 – 817Combined sources16
Helixi828 – 833Combined sources6
Beta strandi837 – 842Combined sources6
Beta strandi852 – 854Combined sources3
Helixi857 – 864Combined sources8
Turni865 – 869Combined sources5
Beta strandi871 – 876Combined sources6

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2D99NMR-A128-203[»]
2DN5NMR-A802-877[»]
2DZQNMR-A565-650[»]
2DZRNMR-A705-790[»]
ProteinModelPortaliQ9UHL9.
SMRiQ9UHL9.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9UHL9.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati119 – 213GTF2I-like 1Add BLAST95
Repeati342 – 436GTF2I-like 2Add BLAST95
Repeati556 – 650GTF2I-like 3Add BLAST95
Repeati696 – 790GTF2I-like 4Add BLAST95
Repeati793 – 887GTF2I-like 5Add BLAST95

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi898 – 905Nuclear localization signalSequence analysis8

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi906 – 930Ser-richAdd BLAST25

Domaini

The N-terminal half may have an activating activity.

Sequence similaritiesi

Belongs to the TFII-I family.PROSITE-ProRule annotation
Contains 5 GTF2I-like repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410IEPZ. Eukaryota.
ENOG41100H8. LUCA.
GeneTreeiENSGT00530000063863.
HOGENOMiHOG000112829.
HOVERGENiHBG051855.
InParanoidiQ9UHL9.
KOiK03121.
OMAiHFVIKRM.
OrthoDBiEOG091G019P.
PhylomeDBiQ9UHL9.
TreeFamiTF352524.

Family and domain databases

Gene3Di3.90.1460.10. 5 hits.
InterProiIPR004212. GTF2I.
IPR016659. TF_II-I.
[Graphical view]
PfamiPF02946. GTF2I. 5 hits.
[Graphical view]
PIRSFiPIRSF016441. TF_II-I. 1 hit.
SUPFAMiSSF117773. SSF117773. 5 hits.
PROSITEiPS51139. GTF2I. 5 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9UHL9-1) [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
MALLGKRCDV PTNGCGPDRW NSAFTRKDEI ITSLVSALDS MCSALSKLNA
60 70 80 90 100
EVACVAVHDE SAFVVGTEKG RMFLNARKEL QSDFLRFCRG PPWKDPEAEH
110 120 130 140 150
PKKVQRGEGG GRSLPRSSLE HGSDVYLLRK MVEEVFDVLY SEALGRASVV
160 170 180 190 200
PLPYERLLRE PGLLAVQGLP EGLAFRRPAE YDPKALMAIL EHSHRIRFKL
210 220 230 240 250
KRPLEDGGRD SKALVELNGV SLIPKGSRDC GLHGQAPKVP PQDLPPTATS
260 270 280 290 300
SSMASFLYST ALPNHAIREL KQEAPSCPLA PSDLGLSRPM PEPKATGAQD
310 320 330 340 350
FSDCCGQKPT GPGGPLIQNV HASKRILFSI VHDKSEKWDA FIKETEDINT
360 370 380 390 400
LRECVQILFN SRYAEALGLD HMVPVPYRKI ACDPEAVEIV GIPDKIPFKR
410 420 430 440 450
PCTYGVPKLK RILEERHSIH FIIKRMFDER IFTGNKFTKD TTKLEPASPP
460 470 480 490 500
EDTSAEVSRA TVLDLAGNAR SDKGSMSEDC GPGTSGELGG LRPIKIEPED
510 520 530 540 550
LDIIQVTVPD PSPTSEEMTD SMPGHLPSED SGYGMEMLTD KGLSEDARPE
560 570 580 590 600
ERPVEDSHGD VIRPLRKQVE LLFNTRYAKA IGISEPVKVP YSKFLMHPEE
610 620 630 640 650
LFVVGLPEGI SLRRPNCFGI AKLRKILEAS NSIQFVIKRP ELLTEGVKEP
660 670 680 690 700
IMDSQGTASS LGFSPPALPP ERDSGDPLVD ESLKRQGFQE NYDARLSRID
710 720 730 740 750
IANTLREQVQ DLFNKKYGEA LGIKYPVQVP YKRIKSNPGS VIIEGLPPGI
760 770 780 790 800
PFRKPCTFGS QNLERILAVA DKIKFTVTRP FQGLIPKPDE DDANRLGEKV
810 820 830 840 850
ILREQVKELF NEKYGEALGL NRPVLVPYKL IRDSPDAVEV TGLPDDIPFR
860 870 880 890 900
NPNTYDIHRL EKILKAREHV RMVIINQLQP FAEICNDAKV PAKDSSIPKR
910 920 930 940 950
KRKRVSEGNS VSSSSSSSSS SSSNPDSVAS ANQISLVQWP MYMVDYAGLN

VQLPGPLNY
Length:959
Mass (Da):106,057
Last modified:May 1, 2000 - v1
Checksum:i7DA3097879701540
GO
Isoform 2 (identifier: Q9UHL9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     656-670: Missing.

Show »
Length:944
Mass (Da):104,677
Checksum:i57E1190182D1D33F
GO
Isoform 3 (identifier: Q9UHL9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     89-89: R → LSAAQHRAATSQLEGRVVRRVLTVASRALCPTG
     656-670: Missing.

Show »
Length:976
Mass (Da):107,979
Checksum:i674D8406B5D6A618
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti111G → S in AAD14687 (PubMed:9774679).Curated1
Sequence conflicti111G → S in AAD27668 (PubMed:10198167).Curated1
Sequence conflicti378R → Q in AAF21796 (PubMed:10642537).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_013446652M → V.3 PublicationsCorresponds to variant rs2301895dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04342589R → LSAAQHRAATSQLEGRVVRR VLTVASRALCPTG in isoform 3. 1 Publication1
Alternative sequenceiVSP_003873656 – 670Missing in isoform 2 and isoform 3. 4 PublicationsAdd BLAST15

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF118270 mRNA. Translation: AAD14687.2.
AF104923 mRNA. Translation: AAD27668.1.
AF151354 mRNA. Translation: AAF19786.1.
AF156489 mRNA. Translation: AAF17358.1.
AF089107 mRNA. Translation: AAF21796.1.
AY648295 mRNA. Translation: AAT68469.1.
AC004851 Genomic DNA. Translation: AAS00362.1.
AC005015 Genomic DNA. No translation available.
AC005231 Genomic DNA. Translation: AAP21877.1.
BC018136 mRNA. Translation: AAH18136.1.
CCDSiCCDS47613.1. [Q9UHL9-2]
CCDS5571.1. [Q9UHL9-1]
CCDS56492.1. [Q9UHL9-3]
RefSeqiNP_001186136.1. NM_001199207.1. [Q9UHL9-3]
NP_005676.3. NM_005685.3. [Q9UHL9-2]
NP_057412.1. NM_016328.2. [Q9UHL9-1]
XP_016868293.1. XM_017012804.1. [Q9UHL9-2]
UniGeneiHs.647056.

Genome annotation databases

EnsembliENST00000265755; ENSP00000265755; ENSG00000006704. [Q9UHL9-1]
ENST00000424337; ENSP00000408477; ENSG00000006704. [Q9UHL9-2]
ENST00000455841; ENSP00000397566; ENSG00000006704. [Q9UHL9-3]
GeneIDi9569.
KEGGihsa:9569.
UCSCiuc032zrv.2. human. [Q9UHL9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF118270 mRNA. Translation: AAD14687.2.
AF104923 mRNA. Translation: AAD27668.1.
AF151354 mRNA. Translation: AAF19786.1.
AF156489 mRNA. Translation: AAF17358.1.
AF089107 mRNA. Translation: AAF21796.1.
AY648295 mRNA. Translation: AAT68469.1.
AC004851 Genomic DNA. Translation: AAS00362.1.
AC005015 Genomic DNA. No translation available.
AC005231 Genomic DNA. Translation: AAP21877.1.
BC018136 mRNA. Translation: AAH18136.1.
CCDSiCCDS47613.1. [Q9UHL9-2]
CCDS5571.1. [Q9UHL9-1]
CCDS56492.1. [Q9UHL9-3]
RefSeqiNP_001186136.1. NM_001199207.1. [Q9UHL9-3]
NP_005676.3. NM_005685.3. [Q9UHL9-2]
NP_057412.1. NM_016328.2. [Q9UHL9-1]
XP_016868293.1. XM_017012804.1. [Q9UHL9-2]
UniGeneiHs.647056.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2D99NMR-A128-203[»]
2DN5NMR-A802-877[»]
2DZQNMR-A565-650[»]
2DZRNMR-A705-790[»]
ProteinModelPortaliQ9UHL9.
SMRiQ9UHL9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114939. 27 interactors.
IntActiQ9UHL9. 12 interactors.
MINTiMINT-1209004.
STRINGi9606.ENSP00000397566.

PTM databases

iPTMnetiQ9UHL9.
PhosphoSitePlusiQ9UHL9.

Polymorphism and mutation databases

BioMutaiGTF2IRD1.
DMDMi21263630.

Proteomic databases

PaxDbiQ9UHL9.
PeptideAtlasiQ9UHL9.
PRIDEiQ9UHL9.

Protocols and materials databases

DNASUi9569.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000265755; ENSP00000265755; ENSG00000006704. [Q9UHL9-1]
ENST00000424337; ENSP00000408477; ENSG00000006704. [Q9UHL9-2]
ENST00000455841; ENSP00000397566; ENSG00000006704. [Q9UHL9-3]
GeneIDi9569.
KEGGihsa:9569.
UCSCiuc032zrv.2. human. [Q9UHL9-1]

Organism-specific databases

CTDi9569.
DisGeNETi9569.
GeneCardsiGTF2IRD1.
HGNCiHGNC:4661. GTF2IRD1.
HPAiHPA044254.
MalaCardsiGTF2IRD1.
MIMi604318. gene.
neXtProtiNX_Q9UHL9.
OpenTargetsiENSG00000006704.
Orphaneti904. Williams syndrome.
PharmGKBiPA29047.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IEPZ. Eukaryota.
ENOG41100H8. LUCA.
GeneTreeiENSGT00530000063863.
HOGENOMiHOG000112829.
HOVERGENiHBG051855.
InParanoidiQ9UHL9.
KOiK03121.
OMAiHFVIKRM.
OrthoDBiEOG091G019P.
PhylomeDBiQ9UHL9.
TreeFamiTF352524.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000006704-MONOMER.

Miscellaneous databases

EvolutionaryTraceiQ9UHL9.
GeneWikiiGTF2IRD1.
GenomeRNAii9569.
PROiQ9UHL9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000006704.
CleanExiHS_GTF2IRD1.
ExpressionAtlasiQ9UHL9. baseline and differential.
GenevisibleiQ9UHL9. HS.

Family and domain databases

Gene3Di3.90.1460.10. 5 hits.
InterProiIPR004212. GTF2I.
IPR016659. TF_II-I.
[Graphical view]
PfamiPF02946. GTF2I. 5 hits.
[Graphical view]
PIRSFiPIRSF016441. TF_II-I. 1 hit.
SUPFAMiSSF117773. SSF117773. 5 hits.
PROSITEiPS51139. GTF2I. 5 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiGT2D1_HUMAN
AccessioniPrimary (citable) accession number: Q9UHL9
Secondary accession number(s): O95444
, Q6DSU6, Q75MX7, Q86UM3, Q8WVC4, Q9UHK8, Q9UI91
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 27, 2002
Last sequence update: May 1, 2000
Last modified: November 30, 2016
This is version 159 of the entry and version 1 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

3D-structure, Complete proteome, 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

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.