| Gene Symbol |
GTF2IRD1
|
| Entrez Gene |
9569
|
| Alt Symbol |
BEN, CREAM1, GTF3, MUSTRD1, RBAP2, WBS, WBSCR11, WBSCR12, hMusTRD1alpha1
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
GTF2I repeat domain containing 1
|
| Other Description |
USE B1-binding protein|Williams-Beuren syndrome chromosome region 11|binding factor for early enhancer|general transcription factor 3|general transcription factor II-I repeat domain-containing protein 1|general transcription factor III|muscle TFII-I repeat domain-containing protein 1 alpha 1|slow-muscle-fiber enhancer-binding protein|williams-Beuren syndrome chromosomal region 12 protein
|
| Swissprots |
Q9UHK8 Q8WVC4 Q9UHL9 Q9UI91 Q86UM3 O95444 Q75MX7 Q6DSU6
|
| Accessions |
AAP21877 AAS00361 AAS00362 EAW69599 EAW69600 EAW69601 Q9UHL9 AB209389 BAD92626 AF089107 AAF21796 AF104923 AAD27668 AF118270 AAD14687 AF151354 AAF19786 AF156489 AAF17358 AK308242 AY648295 AAT68469 BC018136 AAH18136 DQ891171 ABM82097 DQ894354 ABM85280 XM_006716182 XP_006716245 XM_006716183 XP_006716246 XM_011516713 XP_011515015 NM_001199207 NP_001186136 NM_005685 NP_005676 NM_016328 NP_057412
|
| 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). {ECO:0000250}.
|
| Subcellular Location |
Nucleus.
|
| Tissue Specificity |
Highly expressed in adult skeletal muscle, heart, fibroblast, bone and fetal tissues. Expressed at lower levels in all other tissues tested.
|
| Top Pathways |
Herpes simplex infection, cGMP-PKG signaling pathway, Basal transcription factors
|