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STIL STIL centriolar assembly protein [ Homo sapiens (human) ]

Gene ID: 6491, updated on 19-Mar-2019

Summary

Official Symbol
STILprovided by HGNC
Official Full Name
STIL centriolar assembly proteinprovided by HGNC
Primary source
HGNC:HGNC:10879
See related
Ensembl:ENSG00000123473 MIM:181590
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]
Expression
Broad expression in testis (RPKM 3.3), bone marrow (RPKM 3.2) and 21 other tissues See more
Orthologs

Genomic context

See STIL in Genome Data Viewer
Location:
1p33
Exon count:
22
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 TAL bHLH transcription factor 1, erythroid differentiation factor Neighboring gene cytidine/uridine monophosphate kinase 1 Neighboring gene long intergenic non-protein coding RNA 1389 Neighboring gene forkhead box E3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp686O09161

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein localization to centrosome IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of centriole replication IMP
Inferred from Mutant Phenotype
more info
PubMed 
smoothened signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
smoothened signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
centriole IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
centriole IDA
Inferred from Direct Assay
more info
PubMed 
centrosome IBA
Inferred from Biological aspect of Ancestor
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
 

General protein information

Preferred Names
SCL-interrupting locus protein
Names
SCL/TAL1 interrupting locus
TAL-1-interrupting locus protein

NCBI Reference Sequences (RefSeq)

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
    ENSP00000360944.3, ENST00000371877.7
    Conserved Domains (1) summary
    pfam15253
    Location:33435
    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
    ENSP00000353544.3, ENST00000360380.7
    Conserved Domains (1) summary
    pfam15253
    Location:33435
    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
    ENSP00000379523.2, ENST00000396221.6
    Conserved Domains (1) summary
    pfam15253
    Location:33435
    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
    ENSP00000337367.6, ENST00000337817.9
    Conserved Domains (1) summary
    pfam15253
    Location:33388
    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:33388
    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:33435
    STIL_N; SCL-interrupting locus protein N-terminus

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017002123.1XP_016857612.1  SCL-interrupting locus protein isoform X4

  2. XM_011542001.2XP_011540303.1  SCL-interrupting locus protein isoform X7

    Conserved Domains (1) summary
    pfam15253
    Location:33435
    STIL_N; SCL-interrupting locus protein N-terminus
  3. XM_017002124.1XP_016857613.1  SCL-interrupting locus protein isoform X6

  4. XM_011541996.2XP_011540298.1  SCL-interrupting locus protein isoform X3

    See identical proteins and their annotated locations for XP_011540298.1

    UniProtKB/TrEMBL
    A0A0A0MR87
    Conserved Domains (1) summary
    pfam15253
    Location:33388
    STIL_N; SCL-interrupting locus protein N-terminus
  5. XM_011541992.2XP_011540294.1  SCL-interrupting locus protein isoform X1

    See identical proteins and their annotated locations for XP_011540294.1

    UniProtKB/Swiss-Prot
    Q15468
    Conserved Domains (1) summary
    pfam15253
    Location:33435
    STIL_N; SCL-interrupting locus protein N-terminus
  6. XM_011541991.2XP_011540293.1  SCL-interrupting locus protein isoform X1

    See identical proteins and their annotated locations for XP_011540293.1

    UniProtKB/Swiss-Prot
    Q15468
    Conserved Domains (1) summary
    pfam15253
    Location:33435
    STIL_N; SCL-interrupting locus protein N-terminus
  7. XM_011541998.2XP_011540300.1  SCL-interrupting locus protein isoform X5

    See identical proteins and their annotated locations for XP_011540300.1

    Conserved Domains (1) summary
    pfam15253
    Location:33388
    STIL_N; SCL-interrupting locus protein N-terminus
  8. XM_011541994.2XP_011540296.1  SCL-interrupting locus protein isoform X2

    See identical proteins and their annotated locations for XP_011540296.1

    UniProtKB/TrEMBL
    E9PSF2
    Conserved Domains (1) summary
    pfam15253
    Location:33435
    STIL_N; SCL-interrupting locus protein N-terminus
  9. XM_006710834.3XP_006710897.1  SCL-interrupting locus protein isoform X1

    See identical proteins and their annotated locations for XP_006710897.1

    UniProtKB/Swiss-Prot
    Q15468
    Conserved Domains (1) summary
    pfam15253
    Location:33435
    STIL_N; SCL-interrupting locus protein N-terminus
  10. XM_017002126.1XP_016857615.1  SCL-interrupting locus protein isoform X9

    Related
    ENSP00000411664.2, ENST00000447475.6
  11. XM_017002125.1XP_016857614.1  SCL-interrupting locus protein isoform X8

  12. XM_017002127.1XP_016857616.1  SCL-interrupting locus protein isoform X10

RNA

  1. XR_001737370.1 RNA Sequence

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