Basic gene annotations are collected from Uniprot and displayed with links to original sources. A quick link to explore the genomic context with Uniprot Browser is available.
GTF2IRD1 - GTF2I repeat domain containing 1
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).
Uniprot Browser| Entrez ID | EnsEMBL ID | Preferred Name | Uniprot ID |
|---|---|---|---|
| 9569 | ENSG00000006704 | GTF2IRD1 | Q9UHL9 |
Causal Flows are statistically significant links between putative causal events (somatic mutations, copy number variations, chromosomal translocations, etc.) and the activity levels of regulators and regulons. In the causal flow, a mutation may causally activate or deactivate a downstream regulator which then might up- down-regulates a regulonthat contains genes with similar expression profiles and binding sites.
Causal Mechanistic Flows with ENSG00000006704 as Regulator
| ID | Mutation | Role | Regulator | Role | Regulon | # downstream regulons | # diffexp regulons | Drugs |
|---|---|---|---|---|---|---|---|---|
| CMF-03349 | ACRC | up-regulates | GTF2IRD1 | represses | R-3186 | 2 | 1 | Drugs (6) Regulator Drugs (0)Regulon Drugs (6)OPROZOMIB, IXAZOMIB, MARIZOMIB, BORTEZOMIB, IXAZOMIB CITRATE, CARFILZOMIB |
| CMF-10095 | TACR3 | up-regulates | GTF2IRD1 | represses | R-3186 | 2 | 1 | Drugs (6) Regulator Drugs (0)Regulon Drugs (6)OPROZOMIB, IXAZOMIB, MARIZOMIB, BORTEZOMIB, IXAZOMIB CITRATE, CARFILZOMIB |
| CMF-18591 | ZNF569 | up-regulates | GTF2IRD1 | represses | R-3186 | 2 | 1 | Drugs (6) Regulator Drugs (0)Regulon Drugs (6)OPROZOMIB, IXAZOMIB, MARIZOMIB, BORTEZOMIB, IXAZOMIB CITRATE, CARFILZOMIB |
| CMF-21966 | MRGPRE | up-regulates | GTF2IRD1 | represses | R-3186 | 2 | 1 | Drugs (6) Regulator Drugs (0)Regulon Drugs (6)OPROZOMIB, IXAZOMIB, MARIZOMIB, BORTEZOMIB, IXAZOMIB CITRATE, CARFILZOMIB |
| CMF-23326 | CCDC132 | up-regulates | GTF2IRD1 | represses | R-3186 | 2 | 1 | Drugs (6) Regulator Drugs (0)Regulon Drugs (6)OPROZOMIB, IXAZOMIB, MARIZOMIB, BORTEZOMIB, IXAZOMIB CITRATE, CARFILZOMIB |
| CMF-23580 | TP53 | up-regulates | GTF2IRD1 | represses | R-3186 | 2 | 2 | Drugs (6) Regulator Drugs (0)Regulon Drugs (6)OPROZOMIB, IXAZOMIB, MARIZOMIB, BORTEZOMIB, IXAZOMIB CITRATE, CARFILZOMIB |
| CMF-24746 | ADCY9 | down-regulates | GTF2IRD1 | represses | R-3186 | 2 | 1 | Drugs (6) Regulator Drugs (0)Regulon Drugs (6)OPROZOMIB, IXAZOMIB, MARIZOMIB, BORTEZOMIB, IXAZOMIB CITRATE, CARFILZOMIB |
| CMF-25732 | TMC1 | up-regulates | GTF2IRD1 | represses | R-3186 | 2 | 1 | Drugs (6) Regulator Drugs (0)Regulon Drugs (6)OPROZOMIB, IXAZOMIB, MARIZOMIB, BORTEZOMIB, IXAZOMIB CITRATE, CARFILZOMIB |
| CMF-31069 | LRFN2 | up-regulates | GTF2IRD1 | represses | R-3186 | 2 | 2 | Drugs (6) Regulator Drugs (0)Regulon Drugs (6)OPROZOMIB, IXAZOMIB, MARIZOMIB, BORTEZOMIB, IXAZOMIB CITRATE, CARFILZOMIB |