Family

SCL-interrupting locus protein (IPR026123)

Short name: Sil

Family relationships

None.

Description

SIL (also called STIL/TAL1 interrupting locus) is an immediate-early gene that is essential for embryonic development and is implicated in T-cell leukemia-associated translocations [PMID: 12006978, PMID: 8825637]. Sil protein is necessary for proper mitotic spindle organisation in zebrafish and human cells and localizes to the mitotic spindle poles only during metaphase [PMID: 17576815]. Mouse Sil was suggested to play a role as a positive regulator of the sonic hedgehog pathway, acting downstream of PTCH1 [PMID: 11668681]. In human, cell cycle-dependent phosphorylation of Sil is required for its interaction with Pin1, a regulator of mitosis [PMID: 16024801].

Primary microcephaly (MCPH) is an autosomal-recessive congenital disorder characterised by smaller-than-normal brain size and mental retardation. Three different homozygous mutations in SIL were identified in patients from three of the five families linked to the MCPH7 locus; all are predicted to truncate the Sil protein [PMID: 19215732].

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
Pfam
PANTHER