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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: -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

Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processTranscription, Transcription regulation

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

EuPathDBiHostDB:ENSG00000006704.10
HGNCiHGNC:4661 GTF2IRD1
MIMi604318 gene
neXtProtiNX_Q9UHL9

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

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-linki27Glycyl 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
Cross-linki184Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
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-linki238Glycyl 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-linki294Glycyl 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-linki439Glycyl 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-linki567Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki579Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki588Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki622Glycyl 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-linki732Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki772Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki774Glycyl 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
Cross-linki893Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Isoform 2 (identifier: Q9UHL9-2)
Cross-linki638Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki648Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei654PhosphoserineCombined sources1
Cross-linki669Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Isoform 3 (identifier: Q9UHL9-3)
Cross-linki670Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki680Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei686PhosphoserineCombined sources1
Cross-linki701Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

PaxDbiQ9UHL9
PeptideAtlasiQ9UHL9
PRIDEiQ9UHL9
ProteomicsDBi84377
84378 [Q9UHL9-2]
84379 [Q9UHL9-3]

PTM databases

CarbonylDBiQ9UHL9
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 Expressed in 208 organ(s), highest expression level in adenohypophysis
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

Binary interactionsi

Protein-protein interaction databases

BioGridi114939, 82 interactors
IntActiQ9UHL9, 58 interactors
STRINGi9606.ENSP00000397566

Structurei

Secondary structure

1959
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

Keywords - Domaini

Repeat

Phylogenomic databases

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

Family and domain databases

Gene3Di3.90.1460.10, 5 hits
InterProiView protein in InterPro
IPR004212 GTF2I
IPR036647 GTF2I-like_rpt_sf
IPR016659 TF_II-I
PfamiView protein in Pfam
PF02946 GTF2I, 5 hits
PIRSFiPIRSF016441 TF_II-I, 1 hit
SUPFAMiSSF117773 SSF117773, 5 hits
PROSITEiView protein in PROSITE
PS51139 GTF2I, 5 hits

Sequences (3+)i

Sequence statusi: Complete.

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

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.iShow all

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

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PFE2E9PFE2_HUMAN
General transcription factor II-I r...
GTF2IRD1
960Annotation score:
H7C4Q8H7C4Q8_HUMAN
General transcription factor II-I r...
GTF2IRD1
275Annotation score:

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 → V3 PublicationsCorresponds to variant dbSNP:rs2301895Ensembl.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

Similar proteinsi

Entry informationi

Entry nameiGT2D1_HUMAN
AccessioniPrimary (citable) accession number: Q9UHL9
Secondary accession number(s): O95444
, Q6DSU6, Q75MX7, Q86UM3, Q8WVC4, Q9UHK8, Q9UI91
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 27, 2002
Last sequence update: May 1, 2000
Last modified: September 12, 2018
This is version 173 of the entry and version 1 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, Reference proteome
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Main funding by: National Institutes of Health

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