WBSCR16

The RCC1-like repeats assemble into a circular seven-bladed beta propeller structure. Each blade is composed of four antiparallel beta-strands with loops between each strand.

Guanine nucleotide exchange factor (GEF) for mitochondrial dynamin-related GTPase OPA1. Activates OPA1, by exchanging bound GDP for free GTP, and drives OPA1 and MFN1-dependent mitochondrial fusion (PubMed:28746876). Plays an essential role in mitochondrial ribosome biogenesis. As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mitochondrial ribosomal RNA (16S mt-rRNA), controls 16S mt-rRNA abundance and is required for intra-mitochondrial translation of core subunits of the oxidative phosphorylation system (PubMed:27667664).

Isoform 1

Plays an essential role in mitochondrial ribosome biogenesis via its association with GTPases that play a role in the assembly of the large ribosome subunit.

Isoform 3

Plays an essential role in mitochondrial ribosome biogenesis via its association with GTPases that play a role in the assembly of the small ribosome subunit.

WBSCR16 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 WBSCR16 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.

Ubiquitous.

• Mitochondrion membrane
• Isoform 1
• Mitochondrion inner membrane
• Isoform 2
• Mitochondrion inner membrane
• Isoform 3
• Mitochondrion inner membrane

WBSCR16, RCC1L, RCC1-like G exchanging factor-like protein, RCC1-like protein, Williams-Beuren syndrome chromosomal region 16 protein

• entrezGene:81554
• swissprot:Q96I51

Proteins

49997Da