This gene encodes a protein which shares sequence similarity with other members of the type II chaperonin family. The encoded protein is a centrosome-shuttling protein and plays an important role in cytokinesis. This protein also interacts with other type II chaperonin members to form a complex known as the BBSome, which involves ciliary membrane biogenesis. This protein is encoded by a downstream open reading frame (dORF). Several upstream open reading frames (uORFs) have been identified, which repress the translation of the dORF, and two of which can encode small mitochondrial membrane proteins. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 6, also known as McKusick-Kaufman syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]
Function:
Acts as a transcriptional coactivator of serum response factor (SRF). Required for skeletal myogenic differentiation.
Subunit:
Interacts with MKL1 and SRF.
Subcellular Location:
Nucleus.
Tissue Specificity:
Widely expressed in adult and fetal tissues.
Similarity:
Belongs to the TCP-1 chaperonin family.
SWISS:
Q9ULH7
Gene ID:
57496
Database links:
Entrez Gene: 57496 Human
Entrez Gene: 239719 Mouse
Entrez Gene: 100362470 Rat
Omim: 609463 Human
SwissProt: Q9ULH7 Human
SwissProt: P59759 Mouse
Unigene: 49143 Human
Unigene: 270643 Mouse
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