GTF2IRD1

Developmental stage

Highly expressed in developing and regenerating muscles, at the time of myofiber diversification.

Domain

The N-terminal half may have an activating activity.

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).

Involvement in disease

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.

Sequence Similarities

Belongs to the TFII-I family.

Tissue Specificity

Highly expressed in adult skeletal muscle, heart, fibroblast, bone and fetal tissues. Expressed at lower levels in all other tissues tested.

Cellular localization

• Nucleus

Alternative names

CREAM1, GTF3, MUSTRD1, RBAP2, WBSCR11, WBSCR12, GTF2IRD1, General transcription factor II-I repeat domain-containing protein 1, GTF2I repeat domain-containing protein 1, 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

Database links

swissprot:Q9UHL9 entrezGene:9569 swissprot:Q6DSU6 omim:604318