SCL/TAL1-Interrupting Locus

Alternative Names

  • STIL
  • SCL-Interrupting Locus
  • SIL
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OMIM Number

181590

NCBI Gene ID

6491

Uniprot ID

Q15468

Length

64,758 bases

No. of Exons

22

No. of isoforms

2

Protein Name

SCL-interrupting locus protein

Molecular Mass

142955 Da

Amino Acid Count

1287

Genomic Location

chr1:47,250,138-47,314,895

Gene Map Locus
1p33

Description

This gene encodes a cytoplasmic protein implicated in regulation of the mitotic spindle checkpoint, a regulatory pathway that monitors chromosome segregation during cell division to ensure the proper distribution of chromosomes to daughter cells. The protein is phosphorylated in mitosis and in response to activation of the spindle checkpoint, and disappears when cells transition to G1 phase. It interacts with a mitotic regulator, and its expression is required to efficiently activate the spindle checkpoint. It is proposed to regulate Cdc2 kinase activity during spindle checkpoint arrest. Chromosomal deletions that fuse this gene and the adjacent locus commonly occur in T cell leukemias, and are thought to arise through illegitimate V-(D)-J recombination events. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001048166.1:c.3552_3553delSaudi ArabiaNC_000001.11:g.47251452_47251453delPathogenicMicrocephaly 7, Primary, Autosomal RecessiveNG_012126.1:g.67697_67698del; NM_001048166.1:c.3552_3553del; NP_001041631.1:p.Cys1184_Glu1185delinsTer746522203
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