STIL - STIL centriolar assembly protein Gene

中文名称：STIL 中心粒组装蛋白

种属: Homo sapiens

同用名: SIL; MCPH7

基因 ID: 6491 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的细胞质蛋白与有丝分裂纺锤体检查点的调节有关，这是一种在细胞分裂过程中监测染色体分离以确保染色体正确分配给子细胞的调节途径。该蛋白在有丝分裂和纺锤体检查点激活时磷酸化，并在细胞过渡到 G1 期时消失。它与有丝分裂调节器相互作用，它的表达是有效激活纺锤体检查点所必需的。建议在纺锤体检查点停滞期间调节 Cdc2 激酶活性。融合该基因和相邻基因座的染色体缺失通常发生在 T 细胞白血病中，并且被认为是由非法 V- (D) -J 重组事件引起的。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供，2008 年 7 月]

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 基因产物(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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables identical protein binding	IPI IPI: 通过物理相互作用推断	22020124	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	22020124	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
acts upstream of or within centrosome duplication	IDA IDA: 通过直接分析推断	22349705	GOA
acts upstream of or within centrosome duplication	IMP IMP: 通过突变表型推断	22349705	GOA
acts upstream of or within mitotic spindle organization	IMP IMP: 通过突变表型推断	22349705	GOA
involved in positive regulation of G1/S transition of mitotic cell cycle	IDA IDA: 通过直接分析推断	22020124	GOA
involved in positive regulation of centriole replication	IDA IDA: 通过直接分析推断	22020124	GOA
acts upstream of or within protein localization to centrosome	IMP IMP: 通过突变表型推断	22349705	GOA
involved in regulation of centriole replication	IMP IMP: 通过突变表型推断	22020124	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in centriole	IDA IDA: 通过直接分析推断	22020124	GOA
located in centrosome	IDA IDA: 通过直接分析推断	21399614	GOA
located in cytoplasm	IDA IDA: 通过直接分析推断	22020124	GOA
part of procentriole replication complex	IPI IPI: 通过物理相互作用推断	22020124	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

STIL 蛋白结构

STIL_N

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

蛋白主名

其他名称

SCL-interrupting locus protein

SCL/TAL1 interrupting locus

STIL 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	STIL	Q15468	SASS6	Homo sapiens	Q6UVJ0	Anti Tag CoIP	22020124
种属内	STIL	Q15468	SASS6	Homo sapiens	Q6UVJ0	BioID	26638075
种属内	STIL	Q15468	CENPJ	Homo sapiens	Q9HC77	Y2H	22020124
种属内	STIL	Q15468	CENPJ	Homo sapiens	Q9HC77	Anti Bait CoIP	22020124
种属内	STIL	Q15468	CENPJ	Homo sapiens	Q9HC77	Anti Tag CoIP	22020124
种属内	STIL	Q15468	CENPJ	Homo sapiens	Q9HC77	Pull Down	22020124
种属内	STIL	Q15468	CENPJ	Homo sapiens	Q9HC77	BioID	26638075

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS13912	STIL Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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

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