KNL1 - kinetochore scaffold 1 Gene

中文名称：着丝粒支架 1

种属: Homo sapiens

同用名: D40; CT29; Spc7; CASC5; MCPH4; hKNL-1; AF15Q14; PPP1R55; hSpc105

基因 ID: 57082 | 基因类型: protein coding

关于 KNL1

Cytogenetic location: 15q15.1 Genomic coordinates (GRCh38): 15:40,594,249-40,664,342 (from NCBI)

This gene has 12 transcripts (splice variants), 186 orthologues and is associated with 82 phenotypes. Biased expression in testis (RPKM 14.1), bone marrow (RPKM 2.9) and 6 other tissues.

功能概要

由该基因编码的蛋白质是多蛋白组装的一个组成部分，它是产生着丝粒-微管附着和染色体分离所必需的。编码的蛋白质充当蛋白质的支架，在真核细胞周期中影响纺锤体组装检查点，并且它与至少五种不同的着丝粒蛋白和两种检查点激酶相互作用。在成人中，该基因主要在正常睾丸、各种癌细胞系和来自其他组织的原发性肿瘤中表达，并且在胎儿组织中普遍表达。该基因最初被鉴定为与 t (11;15) (q23;q14) 中的混合谱系白血病 (MLL) 基因的融合伴侣。该基因的突变导致常染色体隐性原发性小头畸形 4 (MCPH4) 。可变剪接导致编码不同异构体的多个转录变体。已经描述了其他剪接变体，但它们的生物学有效性尚未得到证实。[RefSeq 提供，2013 年 1 月]

The protein encoded by this gene is a component of the multiprotein assembly that is required for creation of kinetochore-microtubule attachments and chromosome segregation. The encoded protein functions as a scaffold for proteins that influence the spindle assembly checkpoint during the eukaryotic cell cycle and it interacts with at least five different kinetochore proteins and two checkpoint kinases. In adults, this gene is predominantly expressed in normal testes, various Cancer cell lines and primary tumors from Other tissues and is ubiquitously expressed in fetal tissues. This gene was originally identified as a fusion partner with the mixed-lineage leukemia (MLL) gene in t(11;15)(q23;q14). Mutations in this gene cause autosomal recessive primary microcephaly-4 (MCPH4). Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described but their biological validity has not been confirmed. [provided by RefSeq, Jan 2013]

KNL1 基因产物(2)

mRNA	Protein	Name
NM_144508.5	NP_653091.3	kinetochore scaffold 1 isoform 2
NM_170589.5	NP_733468.3	kinetochore scaffold 1 isoform 1

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 microtubule binding	IDA IDA: 通过直接分析推断	30100357	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	15231748	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in attachment of spindle microtubules to kinetochore	IDA IDA: 通过直接分析推断	17981135	GOA
involved in mitotic sister chromatid segregation	IMP IMP: 通过突变表型推断	19893618	GOA
acts upstream of or within protein localization to kinetochore	IDA IDA: 通过直接分析推断	22331848	GOA
involved in regulation of mitotic cell cycle spindle assembly checkpoint	IMP IMP: 通过突变表型推断	19893618	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of Knl1/Spc105 complex	IDA IDA: 通过直接分析推断	27881301	GOA
located in acrosomal vesicle	IDA IDA: 通过直接分析推断	15579588	GOA
located in kinetochore	IDA IDA: 通过直接分析推断	15371340	GOA
located in nucleus	IDA IDA: 通过直接分析推断	10980622	GOA
part of outer kinetochore	IDA IDA: 通过直接分析推断	24530301	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

蛋白主名

其他名称

kinetochore scaffold 1

ALL1-fused gene from chromosome 15q14 protein

KNL1 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	KNL1	Q8NG31	PPP1CC	Homo sapiens	P36873	Pull Down	20231380
种属内	KNL1	Q8NG31	PPP1CA	Homo sapiens	P62136	Y2H	15231748
种属内	KNL1	Q8NG31	PPP1CA	Homo sapiens	P62136	Pull Down	19389623

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 4, Primary, Autosomal Recessive

MCPH4	Primary Autosomal Recessive Microcephaly 4
Microcephaly, Primary Autosomal Recessive, 4	Microcephaly, Type 4, Primary, Autosomal Recessive

Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly	Mcph
True Microcephaly	Microcephalia Vera
Microcephaly Vera	Microcephaly Primary Hereditary
Microcephaly, Primary, Autosomal Recessive	Primary Microcephaly

Primary Microcephaly

True Microcephaly

Microcephaly, Primary

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Leukemia

Leukemias	Leukaemia, Unspecified, Without Mention Of Remission
Aleukemic Leukaemia	Chronic Leukaemia
Subacute Leukaemia	Leukaemia Disorder
Leukaemia Nos

Microcephaly 12, Primary, Autosomal Recessive

MCPH12	Primary Autosomal Recessive Microcephaly 12
Microcephaly, Type 12, Primary, Autosomal Recessive

Mosaic Variegated Aneuploidy Syndrome 2

MVA2	Mosaic Variegated Aneuploidy Syndrome, Type 2

Microcephaly 10, Primary, Autosomal Recessive

MCPH10	Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Primary Autosomal Recessive Microcephaly 10	Microcephalic Primordial Dwarfism, Walsh Type
Microcephaly, Type 10, Primary, Autosomal Recessive

Microcephaly 9, Primary, Autosomal Recessive

MCPH9	Primary Autosomal Recessive Microcephaly 9
Microcephaly, Type 9, Primary, Autosomal Recessive

Zika Virus Congenital Syndrome

Zikv Congenital Infection

Microcephaly 18, Primary, Autosomal Dominant

MCPH18

Primary Autosomal Dominant Microcephaly 18

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

Microcephaly 11, Primary, Autosomal Recessive

MCPH11	Primary Autosomal Recessive Microcephaly 11
Microcephaly, Type 11, Primary, Autosomal Recessive

Mosaic Variegated Aneuploidy Syndrome 1

Mva Syndrome	MVA1
Mosaic Variegated Aneuploidy Syndrome, Type 1	Mosaic Variegated Aneuploidy Syndrome
Congenital Chromosomal Disease

Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities

Microcephaly 15, Primary, Autosomal Recessive	NEDMISBA
Mcph15	Primary Autosomal Recessive Microcephaly 15
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Abnormalities

Microcephaly 13, Primary, Autosomal Recessive

MCPH13	Primary Autosomal Recessive Microcephaly 13
Microcephaly, Type 13, Primary, Autosomal Recessive

Filippi Syndrome

Scott Craniodigital Syndrome With Mental Retardation	Type 1 Syndactyly-Microcephaly-Intellectual Disability Syndrome
FLPIS	Scott Bryant Graham Syndrome
Craniodigital-Intellectual Disability Syndrome	Scott Craniodigital Syndrome
Scott-Bryant-Graham Syndrome	Syndactyly, Type I, With Microcephaly And Mental Retardation
Syndactyly Type I With Microcephaly And Intellectual Disability	Unusual Facial Appearance, Microcephaly, Growth And Intellectual Disability And Syndactyly
Craniodigital Syndrome With Intellectual Disability	Craniodigital Syndrome-Intellectual Disability Syndrome
Craniodigital Syndrome-Intellectual Disability, Scott Type	Intellectual Disability-Craniodigital Syndrome

Mosaic Variegated Aneuploidy Syndrome

Warburton-Anyane-Yeboa Syndrome	Mva Syndrome
Mosaic Variegated Aneuplody Microcephaly Syndrome	Warburton Anyane Yeboa Syndrome

Mirror Movements 1

Congenital Mirror Movement Disorder	Bimanual Synergia
Congenital Mirror Movements	Familial Congenital Controlateral Synkinesia
Familial Congenital Mirror Movements	Hereditary Congenital Controlateral Synkinesia
Hereditary Congenital Mirror Movements	Isolated Congenital Controlateral Synkinesia
Isolated Congenital Mirror Movements	Mirror Movements
MRMV1	Mirror Movements 1 And/Or Agenesis Of The Corpus Callosum
Mirror Movements, Congenital	Bimanual Synkinesis
Cmm	Mirror Movements, Type 1

Seckel Syndrome

Microcephalic Primordial Dwarfism	Bird-Headed Dwarfism
Harper'S Syndrome	Virchow-Seckel Dwarfism
Nanocephalic Dwarfism	Sckl
Seckel-Type Dwarfism

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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-RS07412	KNL1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	KNL1	VGNC	VGNC:104481
Macaca mulatta	KNL1	VGNC	VGNC:84366
Rattus norvegicus	KNL1	RGD	RGD:1307498
Mus musculus	KNL1	MGD	MGI:1923714
Canis familiaris	KNL1	VGNC	VGNC:42496
Bos taurus	KNL1	VGNC	VGNC:106801

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