INTS11
Domain
The HXHXDH motif is essential for the endoribonuclease activity of the CPSF complex.
Function
Catalytic component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes. Mediates the snRNAs 3' cleavage. Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex (PubMed:23904267).
Involvement in disease
Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities
NEDMLOB
An autosomal recessive disorder apparent from infancy or early childhood, and characterized by global developmental delay, intellectual disability, motor and speech impairment, and brain abnormalities. Specifically, brain imaging shows progressive cortical atrophy, cortical gyral simplification, and delayed myelination affecting cerebrum and cerebellum. Ocular defects can include optic atrophy, nystagmus, strabismus, and retinal dystrophy. Disease severity is variable and some patients may die in childhood.
None
The disease may be caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the metallo-beta-lactamase superfamily. RNA-metabolizing metallo-beta-lactamase-like family. INTS11 subfamily.
Cellular localization
- Nucleus
- Cytoplasm
Alternative names
CPSF3L, RC68, INTS11, Integrator complex subunit 11, Int11, Cleavage and polyadenylation-specific factor 3-like protein, Protein related to CPSF subunits of 68 kDa, CPSF3-like protein, RC-68