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Aliases for GTF2IRD1 Gene

Aliases for GTF2IRD1 Gene

  • GTF2I Repeat Domain Containing 1 2 3 5
  • Williams-Beuren Syndrome Chromosomal Region 12 Protein 3 4
  • Slow-Muscle-Fiber Enhancer-Binding Protein 3 4
  • Binding Factor For Early Enhancer 2 3
  • General Transcription Factor IIi 3 4
  • USE B1-Binding Protein 3 4
  • WBSCR11 3 4
  • MUSTRD1 3 4
  • WBSCR12 3 4
  • CREAM1 3 4
  • RBAP2 3 4
  • GTF3 3 4
  • Muscle TFII-I Repeat Domain-Containing Protein 1 Alpha 1 3
  • Williams-Beuren Syndrome Chromosomal Region 11 Protein 4
  • Muscle TFII-I Repeat Domain-Containing Protein 1 4
  • Williams-Beuren Syndrome Chromosome Region 11 3
  • GTF2I Repeat Domain-Containing Protein 1 4
  • GTF2I Repeat Domain-Containing 1 2
  • General Transcription Factor 3 3
  • HMusTRD1alpha1 3
  • MusTRD1/BEN 4
  • WBS 3
  • BEN 3

External Ids for GTF2IRD1 Gene

Previous HGNC Symbols for GTF2IRD1 Gene

  • WBSCR11

Previous GeneCards Identifiers for GTF2IRD1 Gene

  • GC07P072508
  • GC07P073266
  • GC07P073280
  • GC07P073312
  • GC07P073506
  • GC07P073868
  • GC07P069747

Summaries for GTF2IRD1 Gene

Entrez Gene Summary for GTF2IRD1 Gene

  • The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene plays a role in craniofacial and cognitive development and mutations have been associated with Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]

GeneCards Summary for GTF2IRD1 Gene

GTF2IRD1 (GTF2I Repeat Domain Containing 1) is a Protein Coding gene. Diseases associated with GTF2IRD1 include williams-beuren syndrome and chromosomal deletion syndrome. Among its related pathways are RNA Polymerase II Transcription Initiation And Promoter Clearance and cGMP-PKG signaling pathway. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding. An important paralog of this gene is GTF2I.

UniProtKB/Swiss-Prot for GTF2IRD1 Gene

  • 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).

Gene Wiki entry for GTF2IRD1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GTF2IRD1 Gene

Genomics for GTF2IRD1 Gene

Regulatory Elements for GTF2IRD1 Gene

Enhancers for GTF2IRD1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GTF2IRD1 on UCSC Golden Path with GeneCards custom track

Promoters for GTF2IRD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GTF2IRD1 on UCSC Golden Path with GeneCards custom track

Genomic Location for GTF2IRD1 Gene

Chromosome:
7
Start:
74,453,790 bp from pter
End:
74,602,605 bp from pter
Size:
148,816 bases
Orientation:
Plus strand

Genomic View for GTF2IRD1 Gene

Genes around GTF2IRD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GTF2IRD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GTF2IRD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GTF2IRD1 Gene

Proteins for GTF2IRD1 Gene

  • Protein details for GTF2IRD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UHL9-GT2D1_HUMAN
    Recommended name:
    General transcription factor II-I repeat domain-containing protein 1
    Protein Accession:
    Q9UHL9
    Secondary Accessions:
    • O95444
    • Q6DSU6
    • Q75MX7
    • Q86UM3
    • Q8WVC4
    • Q9UHK8
    • Q9UI91

    Protein attributes for GTF2IRD1 Gene

    Size:
    959 amino acids
    Molecular mass:
    106057 Da
    Quaternary structure:
    • Interacts with the retinoblastoma protein (RB1) via its C-terminus.

    Three dimensional structures from OCA and Proteopedia for GTF2IRD1 Gene

    Alternative splice isoforms for GTF2IRD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GTF2IRD1 Gene

Proteomics data for GTF2IRD1 Gene at MOPED

Post-translational modifications for GTF2IRD1 Gene

  • Ubiquitination at Lys 130 and Lys 579
  • Modification sites at PhosphoSitePlus

Other Protein References for GTF2IRD1 Gene

No data available for DME Specific Peptides for GTF2IRD1 Gene

Domains & Families for GTF2IRD1 Gene

Protein Domains for GTF2IRD1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for GTF2IRD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UHL9

UniProtKB/Swiss-Prot:

GT2D1_HUMAN :
  • The N-terminal half may have an activating activity.
  • Belongs to the TFII-I family.
  • Contains 5 GTF2I-like repeats.
Domain:
  • The N-terminal half may have an activating activity.
Family:
  • Belongs to the TFII-I family.
Similarity:
  • Contains 5 GTF2I-like repeats.
genes like me logo Genes that share domains with GTF2IRD1: view

No data available for Gene Families for GTF2IRD1 Gene

Function for GTF2IRD1 Gene

Molecular function for GTF2IRD1 Gene

GENATLAS Biochemistry:
GTF2I repeat domain-containing protein 1,comprising a long and a short isoforms,predominantly expressed in skeletal muscle and more in fetal than in adult,highly homolog to mus TRD1,that binds to an enhancer involved in the regulation of muscle expression. Also highly homolog and tightly linked to GTF2I. Located in the WBSCR and deleted in the syndrome
UniProtKB/Swiss-Prot Function:
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).

Gene Ontology (GO) - Molecular Function for GTF2IRD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IBA --
genes like me logo Genes that share ontologies with GTF2IRD1: view
genes like me logo Genes that share phenotypes with GTF2IRD1: view

Human Phenotype Ontology for GTF2IRD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GTF2IRD1 Gene

MGI Knock Outs for GTF2IRD1:

Animal Model Products

CRISPR Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for GTF2IRD1 Gene

Localization for GTF2IRD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GTF2IRD1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GTF2IRD1 Gene COMPARTMENTS Subcellular localization image for GTF2IRD1 gene
Compartment Confidence
nucleus 4
cytosol 3

No data available for Gene Ontology (GO) - Cellular Components for GTF2IRD1 Gene

Pathways & Interactions for GTF2IRD1 Gene

genes like me logo Genes that share pathways with GTF2IRD1: view

Pathways by source for GTF2IRD1 Gene

Gene Ontology (GO) - Biological Process for GTF2IRD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated NAS 10575229
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with GTF2IRD1: view

No data available for SIGNOR curated interactions for GTF2IRD1 Gene

Drugs & Compounds for GTF2IRD1 Gene

(1) Drugs for GTF2IRD1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with GTF2IRD1: view

Transcripts for GTF2IRD1 Gene

Unigene Clusters for GTF2IRD1 Gene

GTF2I repeat domain containing 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GTF2IRD1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b · 17c ^
SP1: - -
SP2:
SP3: -
SP4: -
SP5:
SP6:
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12:

ExUns: 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for GTF2IRD1 Gene

GeneLoc Exon Structure for
GTF2IRD1
ECgene alternative splicing isoforms for
GTF2IRD1

Expression for GTF2IRD1 Gene

mRNA expression in normal human tissues for GTF2IRD1 Gene

mRNA differential expression in normal tissues according to GTEx for GTF2IRD1 Gene

This gene is overexpressed in Muscle - Skeletal (x6.0).

Protein differential expression in normal tissues from HIPED for GTF2IRD1 Gene

This gene is overexpressed in Neutrophil (34.0), Adipocyte (25.9), and Peripheral blood mononuclear cells (9.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for GTF2IRD1 Gene



SOURCE GeneReport for Unigene cluster for GTF2IRD1 Gene Hs.647056

mRNA Expression by UniProt/SwissProt for GTF2IRD1 Gene

Q9UHL9-GT2D1_HUMAN
Tissue specificity: Highly expressed in adult skeletal muscle, heart, fibroblast, bone and fetal tissues. Expressed at lower levels in all other tissues tested.
genes like me logo Genes that share expression patterns with GTF2IRD1: view

Protein tissue co-expression partners for GTF2IRD1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for GTF2IRD1 Gene

Orthologs for GTF2IRD1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GTF2IRD1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GTF2IRD1 35
  • 89.95 (n)
  • 94.16 (a)
GTF2IRD1 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GTF2IRD1 35
  • 91.31 (n)
  • 94.97 (a)
GTF2IRD1 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gtf2ird1 35
  • 84.96 (n)
  • 88 (a)
Gtf2ird1 16
Gtf2ird1 36
  • 73 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GTF2IRD1 35
  • 99.54 (n)
  • 99.79 (a)
GTF2IRD1 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gtf2ird1 35
  • 84.84 (n)
  • 88.34 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 82 (a)
OneToMany
-- 36
  • 73 (a)
OneToMany
-- 36
  • 69 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia GTF2IRD1 36
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves GTF2IRD1 35
  • 73.67 (n)
  • 75.37 (a)
GTF2IRD1 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GTF2IRD1 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gtf2ird1 35
  • 63.26 (n)
  • 66.63 (a)
African clawed frog
(Xenopus laevis)
Amphibia WBSCR11 35
zebrafish
(Danio rerio)
Actinopterygii Dr.28012 35
gtf2ird1 35
  • 62.67 (n)
  • 58.86 (a)
gtf2ird1 36
  • 50 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10063 35
Species with no ortholog for GTF2IRD1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GTF2IRD1 Gene

ENSEMBL:
Gene Tree for GTF2IRD1 (if available)
TreeFam:
Gene Tree for GTF2IRD1 (if available)

Paralogs for GTF2IRD1 Gene

Paralogs for GTF2IRD1 Gene

(4) SIMAP similar genes for GTF2IRD1 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for GTF2IRD1 Gene

genes like me logo Genes that share paralogs with GTF2IRD1: view

Variants for GTF2IRD1 Gene

Sequence variations from dbSNP and Humsavar for GTF2IRD1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs2301895 - 74,555,211(-) ATCCA(C/T)GATGG reference, missense
rs1008512 -- 74,532,624(-) CTGAG(C/G)CCTGC intron-variant
rs1017029 -- 74,558,766(-) CATGC(A/G)TGCAG intron-variant
rs6949076 -- 74,547,667(+) CTACC(A/G)ACCTC intron-variant
rs6953789 -- 74,493,643(+) CTCCT(A/G)TGATA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GTF2IRD1 Gene

Variant ID Type Subtype PubMed ID
nsv831032 CNV Loss 17160897
dgv7326n71 CNV Loss 21882294
nsv888378 CNV Gain 21882294
nsv831033 CNV Loss 17160897
nsv888379 CNV Loss 21882294
esv2669330 CNV Deletion 23128226
esv2734670 CNV Deletion 23290073
dgv2100e1 CNV Complex 17122850
esv33268 CNV Gain 17666407

Variation tolerance for GTF2IRD1 Gene

Residual Variation Intolerance Score: 5.32% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.18; 39.47% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GTF2IRD1 Gene

HapMap Linkage Disequilibrium report
GTF2IRD1
Human Gene Mutation Database (HGMD)
GTF2IRD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GTF2IRD1 Gene

Disorders for GTF2IRD1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for GTF2IRD1 Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
williams-beuren syndrome
  • fanconi schlesinger syndrome
chromosomal deletion syndrome
aortic valve disease 1
  • aortic valve disease 2
aortic valve disease 2
  • aortic valve stenosis
chromosomal disease
  • chromosomal disorders
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GT2D1_HUMAN
  • Note=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.

Relevant External Links for GTF2IRD1

Genetic Association Database (GAD)
GTF2IRD1
Human Genome Epidemiology (HuGE) Navigator
GTF2IRD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GTF2IRD1
genes like me logo Genes that share disorders with GTF2IRD1: view

No data available for Genatlas for GTF2IRD1 Gene

Publications for GTF2IRD1 Gene

  1. Identification of a novel slow-muscle-fiber enhancer binding protein, MUSTRD1. (PMID: 9774679) O'Mahoney J.V. … Hardeman E.C. (Mol. Cell. Biol. 1998) 2 3 4 23 67
  2. Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome. (PMID: 10198167) Osborne L.R. … Tsui L.-C. (Genomics 1999) 2 3 23
  3. Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile. (PMID: 19897463) Antonell A. … PAcrez-Jurado L.A. (J. Med. Genet. 2010) 3 23
  4. Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanism. (PMID: 20007321) Palmer S.J. … Hardeman E.C. (J. Biol. Chem. 2010) 3 23
  5. hMusTRD1alpha1 represses MEF2 activation of the troponin I slow enhancer. (PMID: 12857748) Polly P. … Hardeman E.C. (J. Biol. Chem. 2003) 3 23

Products for GTF2IRD1 Gene

Sources for GTF2IRD1 Gene

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