GTF2I

GTF2I
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2D9B, 2DN4, 2ED2, 2EJE
Identifiers
Aliases	GTF2I, BAP135, BTKAP1, DIWS, GTFII-I, IB291, SPIN, TFII-I, WBS, WBSCR6, general transcription factor IIi
External IDs	OMIM: 601679 MGI: 1202722 HomoloGene: 7748 GeneCards: GTF2I
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7q11.23 Start 74,650,231 bp[1] End 74,760,692 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5 G2|5 74.48 cM Start 134,237,834 bp[2] End 134,314,760 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence sural nerve right uterine tube right lobe of thyroid gland left lobe of thyroid gland body of pancreas left adrenal gland skin of abdomen gastric mucosa canal of the cervix Top expressed in utricle spermatocyte molar primitive streak superior surface of tongue medullary collecting duct renal corpuscle retinal pigment epithelium ciliary body spermatid More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding mitogen-activated protein kinase binding DNA-binding transcription factor activity, RNA polymerase II-specific DNA binding DNA-binding transcription factor activity Cellular component neuronal cell body cell projection membrane nucleus cytoplasm nucleoplasm Biological process negative regulation of angiogenesis transcription, DNA-templated transcription initiation from RNA polymerase II promoter regulation of transcription, DNA-templated signal transduction negative regulation of cytosolic calcium ion concentration transition between slow and fast fiber regulation of transcription by RNA polymerase II transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2969 14886 Ensembl ENSG00000263001 ENSMUSG00000060261 UniProt P78347 Q9ESZ8 RefSeq (mRNA) NM_001163636 NM_001280800 NM_001518 NM_032999 NM_033000 NM_033001 NM_001080746 NM_001080747 NM_001080748 NM_001080749 NM_010365 NM_001359062 NM_001359063 NM_001359064 NM_001359065 NM_001359066 NM_001359067 RefSeq (protein) NP_001157108 NP_001267729 NP_001509 NP_127492 NP_127493 NP_127494 NP_001074215 NP_001074216 NP_001074217 NP_001074218 NP_034495 NP_001345991 NP_001345992 NP_001345993 NP_001345994 NP_001345995 NP_001345996 Location (UCSC) Chr 7: 74.65 – 74.76 Mb Chr 5: 134.24 – 134.31 Mb PubMed search [3] [4]
Wikidata
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General transcription factor II-I is a protein that in humans is encoded by the GTF2I gene.^[5][6][7]

Function

This gene encodes a multifunctional phosphoprotein, TFII-I, with roles in transcription and signal transduction. Haploinsuffiency (deletion of one copy) of the GTF2I gene is noted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11.23. It is duplicated in the 7q11.23 duplication syndrome.^[8] The exon(s) encoding 5' UTR has not been fully defined, but this gene is known to contain at least 34 exons, and its alternative splicing generates 4 transcript variants in humans.^[7] A single gain-of-function point mutation in GTF2I is also found in certain Thymomas. Single nucleotide polymorphism (SNP) in GTF2I is correlated to autoimmune disorders.

Interactions

GTF2I has been shown to interact with:

References

Further reading

External links

• GTF2I+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

This page was last edited on 11 December 2023, at 01:36