• Gene id: 6491

Gene Summary

• Gene Symbol: STIL   Gene   UCSC   Ensembl
• Aliases: MCPH7, SIL
• Gene name: STIL centriolar assembly protein
• Alternate names: SCL-interrupting locus protein, SCL/TAL1 interrupting locus, TAL-1-interrupting locus protein,
• Gene location: 1p33 (47314895: 47250138)     Exons: 22     NC_000001.11
• Gene summary(Entrez): 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 prot
• OMIM: 605882

Protein Summary

• Protein general information: Q15468  
  • Name: SCL interrupting locus protein (TAL 1 interrupting locus protein)
  • Length: 1287  
  • Mass: 142955
  • Tissue specificity: Expressed in all hematopoietic tissues and cell lines. Highly expressed in a variety of tumors characterized by increased mitotic activity with highest expression in lung cancer. {ECO
• Sequence:

  MEPIYPFARPQMNTRFPSSRMVPFHFPPSKCALWNPTPTGDFIYLHLSYYRNPKLVVTEKTIRLAYRHAKQNKKN
  SSCFLLGSLTADEDEEGVTLTVDRFDPGREVPECLEITPTASLPGDFLIPCKVHTQELCSREMIVHSVDDFSSAL
  KALQCHICSKDSLDCGKLLSLRVHITSRESLDSVEFDLHWAAVTLANNFKCTPVKPIPIIPTALARNLSSNLNIS
  QVQGTYKYGYLTMDETRKLLLLLESDPKVYSLPLVGIWLSGITHIYSPQVWACCLRYIFNSSVQERVFSESGNFI
  IVLYSMTHKEPEFYECFPCDGKIPDFRFQLLTSKETLHLFKNVEPPDKNPIRCELSAESQNAETEFFSKASKNFS
  IKRSSQKLSSGKMPIHDHDSGVEDEDFSPRPIPSPHPVSQKISKIQPSVPELSLVLDGNFIESNPLPTPLEMVNN
  ENPPLINHLEHLKPLQPQLYDEKHSPEVEAGEPSLRGIPNQLNQDKPALLRHCKVRQPPAYKKGNPHTRNSIKPS
  SHNGPSHDIFEKLQTVSAGNVQNEEYPIRPSTLNSRQSSLAPQSQPHDFVFSPHNSGRPMELQIPTPPLPSYCST
  NVCRCCQHHSHIQYSPLNSWQGANTVGSIQDVQSEALQKHSLFHPSGCPALYCNAFCSSSSPIALRPQGDMGSCS
  PHSNIEPSPVARPPSHMDLCNPQPCTVCMHTPKTESDNGMMGLSPDAYRFLTEQDRQLRLLQAQIQRLLEAQSLM
  PCSPKTTAVEDTVQAGRQMELVSVEAQSSPGLHMRKGVSIAVSTGASLFWNAAGEDQEPDSQMKQDDTKISSEDM
  NFSVDINNEVTSLPGSASSLKAVDIPSFEESNIAVEEEFNQPLSVSNSSLVVRKEPDVPVFFPSGQLAESVSMCL
  QTGPTGGASNNSETSEEPKIEHVMQPLLHQPSDNQKIYQDLLGQVNHLLNSSSKETEQPSTKAVIISHECTRTQN
  VYHTKKKTHHSRLVDKDCVLNATLKQLRSLGVKIDSPTKVKKNAHNVDHASVLACISPEAVISGLNCMSFANVGM
  SGLSPNGVDLSMEANAIALKYLNENQLSQLSVTRSNQNNCDPFSLLHINTDRSTVGLSLISPNNMSFATKKYMKR
  YGLLQSSDNSEDEEEPPDNADSKSEYLLNQNLRSIPEQLGGQKEPSKNDHEIINCSNCESVGTNADTPVLRNITN
  EVLQTKAKQQLTEKPAFLVKNLKPSPAVNLRTGKAEFTQHPEKENEGDITIFPESLQPSETLKQMNSMNSVGTFL
  DVKRLRQLPKLF

• Structural information:
  • Interpro: IPR026123  
  • PDB: 4YYP 5LHW 5LHZ
  • PDBsum: 4YYP 5LHW 5LHZ
  • DIP: 60580
  • STRING: ENSP00000360944
• Other Databases: GeneCards:  STIL  Malacards:  STIL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005814	centriole	IBA	cellular component
GO:0007224	smoothened signaling pathway	IBA	biological process
GO:0071539	protein localization to centrosome	IBA	biological process
GO:0005813	centrosome	IBA	cellular component
GO:0007052	mitotic spindle organization	IBA	biological process
GO:0051298	centrosome duplication	IBA	biological process
GO:0005813	centrosome	IDA	cellular component
GO:0005814	centriole	IDA	cellular component
GO:0005814	centriole	IDA	cellular component
GO:0046599	regulation of centriole replication	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0051298	centrosome duplication	IDA	biological process
GO:0005813	centrosome	IDA	cellular component
GO:0005814	centriole	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0051298	centrosome duplication	IMP	biological process
GO:0007052	mitotic spindle organization	IMP	biological process
GO:0071539	protein localization to centrosome	IMP	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001947	heart looping	ISS	biological process
GO:0021915	neural tube development	ISS	biological process
GO:0030903	notochord development	ISS	biological process
GO:0043066	negative regulation of apoptotic process	ISS	biological process
GO:0000578	embryonic axis specification	ISS	biological process
GO:0001701	in utero embryonic development	ISS	biological process
GO:0001843	neural tube closure	ISS	biological process
GO:0007224	smoothened signaling pathway	ISS	biological process
GO:0007368	determination of left/right symmetry	ISS	biological process
GO:0030900	forebrain development	ISS	biological process
GO:0033504	floor plate development	ISS	biological process
GO:0035264	multicellular organism growth	ISS	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005814	centriole	IEA	cellular component

Diseases

Associated diseases	References
Primary microcephaly	KEGG:H00269
Primary microcephaly	KEGG:H00269
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray