STIL - STIL centriolar assembly protein Gene

Also Known as SIL; MCPH7

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6491

About STIL

Cytogenetic location: 1p33 Genomic coordinates (GRCh38): 1:47,250,139-47,314,896 (from NCBI)

This gene has 14 transcripts (splice variants), 195 orthologues and is associated with 78 phenotypes. Broad expression in testis (RPKM 3.3), bone marrow (RPKM 3.2) and 21 other tissues.

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]

STIL Products (7)

mRNA	Protein	Name
NM_001048166.1	NP_001041631.1	SCL-interrupting locus protein isoform 1
NM_001282936.1	NP_001269865.1	SCL-interrupting locus protein isoform 2
NM_001282937.1	NP_001269866.1	SCL-interrupting locus protein isoform 3
NM_001282938.1	NP_001269867.1	SCL-interrupting locus protein isoform 4
NM_001282939.1	NP_001269868.1	SCL-interrupting locus protein isoform 5
NM_001377417.1	NP_001364346.1	SCL-interrupting locus protein isoform 4
NM_003035.2	NP_003026.2	SCL-interrupting locus protein isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	22020124	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	22020124	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within centrosome duplication	IDA IDA: Inferred from direct assay	22349705	GOA
acts upstream of or within centrosome duplication	IMP IMP: Inferred from mutant phenotype	22349705	GOA
acts upstream of or within mitotic spindle organization	IMP IMP: Inferred from mutant phenotype	22349705	GOA
involved in positive regulation of G1/S transition of mitotic cell cycle	IDA IDA: Inferred from direct assay	22020124	GOA
involved in positive regulation of centriole replication	IDA IDA: Inferred from direct assay	22020124	GOA
acts upstream of or within protein localization to centrosome	IMP IMP: Inferred from mutant phenotype	22349705	GOA
involved in regulation of centriole replication	IMP IMP: Inferred from mutant phenotype	22020124	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in centriole	IDA IDA: Inferred from direct assay	22020124	GOA
located in centrosome	IDA IDA: Inferred from direct assay	21399614	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	22020124	GOA
part of procentriole replication complex	IPI IPI: Inferred from physical interaction	22020124	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

STIL Protein Structure

STIL_N

0
200
400
600
800
1000
1200
1287 a.a.

Protein Preferred Names	Protein Names
SCL-interrupting locus protein	SCL/TAL1 interrupting locus

STIL Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	STIL	Q15468	SASS6	Homo sapiens	Q6UVJ0	Anti Tag CoIP	22020124
Intra	STIL	Q15468	SASS6	Homo sapiens	Q6UVJ0	BioID	26638075
Intra	STIL	Q15468	CENPJ	Homo sapiens	Q9HC77	Y2H	22020124
Intra	STIL	Q15468	CENPJ	Homo sapiens	Q9HC77	Anti Bait CoIP	22020124
Intra	STIL	Q15468	CENPJ	Homo sapiens	Q9HC77	Anti Tag CoIP	22020124
Intra	STIL	Q15468	CENPJ	Homo sapiens	Q9HC77	Pull Down	22020124
Intra	STIL	Q15468	CENPJ	Homo sapiens	Q9HC77	BioID	26638075

Cross: Cross-species interaction Intra: Intraspecies interaction

STIL Antibodies

Cat. No.	상품명	신청	Reactivity
HY-P87088	STIL/SIL Antibody (YA6781)	WB	Human

Related Diseases

Diseases	Alias
Microcephaly 7, Primary, Autosomal Recessive	MCPH7 Primary Autosomal Recessive Microcephaly 7 Microcephaly, Primary Autosomal Recessive, 7
Precursor T-Cell Acute Lymphoblastic Leukemia	T-All Precursor T-Cell Acute Lymphoblastic Leukemia/Lymphoma Precursor T-Cell Acute Lymphocytic Leukemia Precursor T-Cell Acute Lymphocytic Leukemia/Lymphoma Precursor T-Cell Lymphoblastic Leukemia-Lymphoma Adult T-Cell Lymphoma/Leukemia
Primary Autosomal Recessive Microcephaly	Autosomal Recessive Primary Microcephaly Mcph True Microcephaly Microcephalia Vera Microcephaly Vera Microcephaly Primary Hereditary Microcephaly, Primary, Autosomal Recessive Primary Microcephaly
Lobar Holoprosencephaly
Septopreoptic Holoprosencephaly	Septopreoptic Hpe
Midline Interhemispheric Variant Of Holoprosencephaly	Mih Mih Type Hpe Mihf Mihv Middle Interhemispheric Fusion Variant Middle Interhemispheric Variant Of Holoprosencephaly Syntelencephaly
Alobar Holoprosencephaly
Semilobar Holoprosencephaly
Childhood T-Cell Acute Lymphoblastic Leukemia	T-Cell Childhood Acute Lymphoblastic Leukemia Childhood Precursor T-Lymphoblastic Lymphoma/Leukemia T-Cell Childhood Acute Lymphocytic Leukemia Childhood T Lymphoblastic Leukemia/Lymphoma
Primary Microcephaly	True Microcephaly Microcephaly, Primary
Microcephaly 9, Primary, Autosomal Recessive	MCPH9 Primary Autosomal Recessive Microcephaly 9 Microcephaly, Type 9, Primary, Autosomal Recessive
Microcephaly 14, Primary, Autosomal Recessive	MCPH14 Primary Autosomal Recessive Microcephaly 14 Microcephaly, Type 14, Primary, Autosomal Recessive
Microcephaly 5, Primary, Autosomal Recessive	MCPH5 Primary Autosomal Recessive Microcephaly 5 Microcephaly Primary Autosomal Recessive 5 With Simplified Gyral Pattern Microcephaly, Primary Autosomal Recessive, 5
Non-Syndromic X-Linked Intellectual Disability 99	Mrx99 X-Linked Mental Retardation 99
T-Cell Acute Lymphoblastic Leukemia	T-Cell Leukemia Acute T Cell Leukemia Precursor T Lymphoblastic Leukemia Precursor T-Lymphoblastic Lymphoma/Leukemia T Acute Lymphoblastic Leukemia T-Cell Acute Lymphocytic Leukaemia T-Cell Lymphoblastic Leukemia/Lymphoma Leukemia T-Cell Leukemia, T-Cell Leukemia, Acute, Lymphoblastic, T-Cell Leukemia, T-Cell Acute Lymphoblastic Leukemia, Acute T-Cell Precursor T-Cell Lymphoblastic Leukemia-Lymphoma Precursor T-Cell Lymphoblastic Lymphoma Precursor T Cell Lymphoblastic Leukemia/Lymphoblastic Lymphoma
Holoprosencephaly	Holoprosencephaly Sequence Hpe Hpe - [Holoprosencephaly]
Microcephaly 17, Primary, Autosomal Recessive	MCPH17 Primary Autosomal Recessive Microcephaly 17
Microcephaly 12, Primary, Autosomal Recessive	MCPH12 Primary Autosomal Recessive Microcephaly 12 Microcephaly, Type 12, Primary, Autosomal Recessive
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Female-Restricted Syndromic X-Linked Intellectual Disability 99	X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability Intellectual Disability, X-Linked 99, Syndromic, Female-Restricted Female-Restricted Syndromic X-Linked Mental Retardation 99 Mrxs99f X-Linked Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability Syndrome Limited To Females
Ovarian Endometrioid Adenofibroma
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Microcephalic Osteodysplastic Primordial Dwarfism Type Ii Majewski Osteodysplastic Primordial Dwarfism Type Ii MOPD2 Mopd Ii Osteodysplastic Primordial Dwarfism Type Ii Mopdii Osteodysplastic Primordial Dwarfism Type 2 Osteodysplastic Primordial Dwarfism, Type Ii Pcnt-Related Microcephalic Osteodysplastic Primordial Dwarfism Microcephalic Osteodysplastic Primordial Dwarfism Type 2 Mopd 2 Microcephalic Osteodysplastic Primordial Dwarfism With Tooth Abnormalities Mopd Type Ii Microcephalic Osteodysplastic Primordial Dwarfism 2 Dwarfism, Primordial, Osteodysplastic, Microcephalic Type Ii
Inflammatory Leiomyosarcoma
Zika Virus Congenital Syndrome	Zikv Congenital Infection
Microlissencephaly
Seckel Syndrome	Microcephalic Primordial Dwarfism Bird-Headed Dwarfism Harper'S Syndrome Virchow-Seckel Dwarfism Nanocephalic Dwarfism Sckl Seckel-Type Dwarfism
Lung Cancer	Lung Carcinoma Non-Small Cell Lung Carcinoma Lung Cancer, Susceptibility To Lung Cancer, Protection Against Adenocarcinoma Of Lung, Somatic Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In Nonsmall Cell Lung Cancer Lung Neoplasm Carcinoma Of Lung Lung Non-Small Cell Carcinoma Non-Small Cell Lung Cancer Nsclc Lung Neoplasms Malignant Neoplasm Of Lung Alveolar Cell Carcinoma Nonsmall Cell Lung Cancer, Somatic Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In Nonsmall Cell Lung Cancer, Susceptibility To Lung Cancer, Somatic Lung Cancer, Resistance To Cancer Of Lung Cancer Of Bronchus Cancer Of The Lung Lung Malignancies Lung Malignant Tumors Malignant Lung Tumor Malignant Tumor Of Lung Pulmonary Cancer Pulmonary Carcinoma Pulmonary Neoplasms Respiratory Carcinoma LNCR Adenocarcinoma Of Lung Neoplasm Of Lung Cancer Lung Carcinoma Non-Small Cell Lung Carcinoma, Non-Small-Cell Lung Lung Cancers Lung Carcinomas Cancer, Lung Cancer, Lung, Non-Small Cell Primary Malignant Neoplasm Of Lung Bronchioloalveolar Adenocarcinoma
Isolated Growth Hormone Deficiency, Type Ia	Ighd Ia Primordial Dwarfism Isolated Growth Hormone Deficiency Type Ia Sexual Ateleiotic Dwarfism Pituitary Dwarfism I IGHD1A Illig-Type Growth Hormone Deficiency Growth Hormone Deficiency, Isolated, Type Ia Congenital Ighd Type Ia Congenital Isolated Gh Deficiency Type Ia Congenital Isolated Growth Hormone Deficiency Type Ia Pituitary Dwarfism 1 Growth Hormone Deficiency, Isolated, Autosomal Recessive Autosomal Recessive Isolated Growth Hormone Deficiency Isolated Growth Hormone Deficiency Type 1a Congenital Ighd Congenital Isolated Gh Deficiency Congenital Isolated Growth Hormone Deficiency Growth Hormone Deficiency, Isolated Autosomal Recessive Illig Type Growth Hormone Deficiency Non-Acquired Isolated Growth Hormone Deficiency Growth Hormone Deficiency, Isolated, 1a Growth Hormone Deficiency Isolated Autosomal Recessive Dwarfism, Primordial Dwarfism
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Periventricular Nodular Heterotopia	Periventricular Heterotopia Pvnh Familial Nodular Heterotopia Heterotopia, Periventricular Periventricular Heterotopia, X-Linked

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-RS13912	STIL Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	STIL	VGNC	VGNC:77834
Mus musculus	STIL	MGD	MGI:107477
Rattus norvegicus	STIL	RGD	RGD:1304972
Canis familiaris	STIL	VGNC	VGNC:46900
Felis catus	STIL	VGNC	VGNC:65771
Bos taurus	STIL	VGNC	VGNC:35382
Others	STIL	NCBI