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    STIL SCL/TAL1 interrupting locus [ Homo sapiens (human) ]

    Gene ID: 6491, updated on 15-Jun-2016
    Official Symbol
    STILprovided by HGNC
    Official Full Name
    SCL/TAL1 interrupting locusprovided by HGNC
    Primary source
    HGNC:HGNC:10879
    See related
    Ensembl:ENSG00000123473 HPRD:01627; MIM:181590; Vega:OTTHUMG00000007851
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SIL; MCPH7
    Summary
    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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    1p32
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (47250139..47314787, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (47715811..47779819, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene PDZK1 interacting protein 1 Neighboring gene T-cell acute lymphocytic leukemia 1 Neighboring gene cytidine/uridine monophosphate kinase 1 Neighboring gene long intergenic non-protein coding RNA 1389 Neighboring gene forkhead box E3

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • DKFZp686O09161

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cell proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    centrosome duplication IDA
    Inferred from Direct Assay
    more info
    PubMed 
    centrosome duplication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    determination of left/right symmetry ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    embryonic axis specification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    floor plate development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    forebrain development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    heart looping ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    in utero embryonic development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mitotic spindle organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    multicellular organism growth ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    neural tube closure ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    neural tube development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    notochord development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein localization to centrosome IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    smoothened signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    centriole IDA
    Inferred from Direct Assay
    more info
    PubMed 
    centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    SCL-interrupting locus protein
    Names
    TAL-1-interrupting locus protein

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012126.1 RefSeqGene

      Range
      5001..69009
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001048166.1NP_001041631.1  SCL-interrupting locus protein isoform 1

      See identical proteins and their annotated locations for NP_001041631.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AA897748, AL135960, CR749851, DA754072, DB062487
      Consensus CDS
      CCDS41329.1
      UniProtKB/Swiss-Prot
      Q15468
      Related
      ENSP00000360944, OTTHUMP00000009569, ENST00000371877, OTTHUMT00000021652
      Conserved Domains (1) summary
      pfam15253
      Location:33437
      STIL_N; SCL-interrupting locus protein N-terminus
    2. NM_001282936.1NP_001269865.1  SCL-interrupting locus protein isoform 2

      See identical proteins and their annotated locations for NP_001269865.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate in-frame splice junction in the 3' coding region compared to variant 1, resulting in an isoform (2) that is 1 aa shorter compared to isoform 1.
      Source sequence(s)
      AL135960, AL513322, DB062060, M74558
      Consensus CDS
      CCDS548.1
      UniProtKB/Swiss-Prot
      Q15468
      Related
      ENSP00000353544, OTTHUMP00000009566, ENST00000360380, OTTHUMT00000021649
      Conserved Domains (1) summary
      pfam15253
      Location:33437
      STIL_N; SCL-interrupting locus protein N-terminus
    3. NM_001282937.1NP_001269866.1  SCL-interrupting locus protein isoform 3

      See identical proteins and their annotated locations for NP_001269866.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AL135960, AL513322, BC144089, DB062060, M74558
      Consensus CDS
      CCDS72785.1
      UniProtKB/Swiss-Prot
      Q15468
      UniProtKB/TrEMBL
      B7ZLW5, E9PSF2
      Related
      ENSP00000379523, OTTHUMP00000231597, ENST00000396221, OTTHUMT00000387232
      Conserved Domains (1) summary
      pfam15253
      Location:33437
      STIL_N; SCL-interrupting locus protein N-terminus
    4. NM_001282938.1NP_001269867.1  SCL-interrupting locus protein isoform 4

      See identical proteins and their annotated locations for NP_001269867.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and lacks an alternate in-frame segment compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AL135960, BC126223, BC136432, DB062060, M74558
      Consensus CDS
      CCDS72786.1
      UniProtKB/Swiss-Prot
      Q15468
      UniProtKB/TrEMBL
      A0A0A0MR87
      Related
      ENSP00000337367, ENST00000337817
      Conserved Domains (1) summary
      pfam15253
      Location:33390
      STIL_N; SCL-interrupting locus protein N-terminus
    5. NM_001282939.1NP_001269868.1  SCL-interrupting locus protein isoform 5

      See identical proteins and their annotated locations for NP_001269868.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR, lacks an alternate in-frame segment, and uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (5) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AL135960, AL513322, BC053615, BC126223, DB062060
      UniProtKB/Swiss-Prot
      Q15468
      UniProtKB/TrEMBL
      Q7Z626
      Conserved Domains (1) summary
      pfam15253
      Location:33390
      STIL_N; SCL-interrupting locus protein N-terminus
    6. NM_003035.2NP_003026.2  SCL-interrupting locus protein isoform 2

      See identical proteins and their annotated locations for NP_003026.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction in the 3' coding region compared to variant 1, resulting in an isoform (2) that is 1 aa shorter compared to isoform 1.
      Source sequence(s)
      AA897748, AL135960, DA754072, DB062487, M74558
      Consensus CDS
      CCDS548.1
      UniProtKB/Swiss-Prot
      Q15468
      Conserved Domains (1) summary
      pfam15253
      Location:33437
      STIL_N; SCL-interrupting locus protein N-terminus

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      47250139..47314787 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017002123.1XP_016857612.1  

    2. XM_011542001.2XP_011540303.1  

      Conserved Domains (1) summary
      pfam15253
      Location:33437
      STIL_N; SCL-interrupting locus protein N-terminus
    3. XM_017002124.1XP_016857613.1  

    4. XM_011541996.2XP_011540298.1  

      See identical proteins and their annotated locations for XP_011540298.1

      UniProtKB/TrEMBL
      A0A0A0MR87
      Conserved Domains (1) summary
      pfam15253
      Location:33390
      STIL_N; SCL-interrupting locus protein N-terminus
    5. XM_011541992.2XP_011540294.1  

      See identical proteins and their annotated locations for XP_011540294.1

      UniProtKB/Swiss-Prot
      Q15468
      Conserved Domains (1) summary
      pfam15253
      Location:33437
      STIL_N; SCL-interrupting locus protein N-terminus
    6. XM_011541991.2XP_011540293.1  

      See identical proteins and their annotated locations for XP_011540293.1

      UniProtKB/Swiss-Prot
      Q15468
      Conserved Domains (1) summary
      pfam15253
      Location:33437
      STIL_N; SCL-interrupting locus protein N-terminus
    7. XM_011541998.2XP_011540300.1  

      See identical proteins and their annotated locations for XP_011540300.1

      Conserved Domains (1) summary
      pfam15253
      Location:33390
      STIL_N; SCL-interrupting locus protein N-terminus
    8. XM_011541994.2XP_011540296.1  

      See identical proteins and their annotated locations for XP_011540296.1

      UniProtKB/TrEMBL
      E9PSF2
      Conserved Domains (1) summary
      pfam15253
      Location:33437
      STIL_N; SCL-interrupting locus protein N-terminus
    9. XM_006710834.3XP_006710897.1  

      See identical proteins and their annotated locations for XP_006710897.1

      UniProtKB/Swiss-Prot
      Q15468
      Conserved Domains (1) summary
      pfam15253
      Location:33437
      STIL_N; SCL-interrupting locus protein N-terminus
    10. XM_017002126.1XP_016857615.1  

      Related
      ENSP00000411664, OTTHUMP00000009567, ENST00000447475, OTTHUMT00000021650
    11. XM_017002125.1XP_016857614.1  

    12. XM_017002127.1XP_016857616.1  

    RNA

    1. XR_001737370.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      47832692..47896668 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)