ASPM - assembly factor for spindle microtubules Gene

中文名称：纺锤体微管的装配因子

种属: Homo sapiens

同用名: ASP; MCPH5; Calmbp1

基因 ID: 259266 | 基因类型: protein coding

关于 ASPM

Cytogenetic location: 1q31.3 Genomic coordinates (GRCh38): 1:197,084,127-197,146,669 (from NCBI)

This gene has 8 transcripts (splice variants), 198 orthologues, 7 paralogues and is associated with 3 phenotypes. Broad expression in bone marrow (RPKM 4.7), lymph node (RPKM 3.5) and 14 other tissues.

功能概要

该基因是黑腹果蝇“异常纺锤体”基因 (asp) 的人类直系同源基因，它对于胚胎成神经细胞的正常有丝分裂纺锤体功能至关重要。对小鼠的研究也表明该基因在有丝分裂纺锤体调节中的作用，在调节神经发生中具有优先作用。该基因的突变与原发性小头畸形 5 型相关。已发现该基因编码不同亚型的多个转录变体。[RefSeq 提供，2011 年 5 月]

This gene is the human ortholog of the Drosophila melanogaster 'abnormal spindle' gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts. Studies in mouse also suggest a role of this gene in mitotic spindle regulation, with a preferential role in regulating neurogenesis. Mutations in this gene are associated with microcephaly primary type 5. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]

ASPM 基因产物(2)

mRNA	Protein	Name
NM_001206846.2	NP_001193775.1	abnormal spindle-like microcephaly-associated protein isoform 2
NM_018136.5	NP_060606.3	abnormal spindle-like microcephaly-associated protein isoform 1

基因本体论

生物过程
细胞组分

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in spindle localization	IMP IMP: 通过突变表型推断	21044324	GOA
involved in spindle organization	IMP IMP: 通过突变表型推断	21044324	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in microtubule minus-end	IDA IDA: 通过直接分析推断	21044324	GOA
located in mitotic spindle pole	IDA IDA: 通过直接分析推断	15972725	GOA
located in nucleus	IDA IDA: 通过直接分析推断	21044324	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

ASPM 蛋白结构

CAMSAP_CH

0
600
1200
1800
2400
3000
3477 a.a.

蛋白主名

其他名称

abnormal spindle-like microcephaly-associated protein

abnormal spindle microtubule assembly

关联疾病

疾病名称

别名

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

Primary Autosomal Recessive Microcephaly

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

Microcephaly

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

Microcephaly 1, Primary, Autosomal Recessive

MCPH1	Premature Chromosome Condensation Syndrome
Pcc Syndrome	Primary Autosomal Recessive Microcephaly 1
Microcephaly, Primary Autosomal Recessive, 1	Premature Chromosome Condensation With Microcephaly And Mental Retardation
Microcephaly Vera	True Microcephaly
Microcephaly, Type 1, Primary, Autosomal Recessive	Autosomal Recessive Primary Microcephaly

Fetal Akinesia Deformation Sequence 1

Fetal Akinesia Deformation Sequence	Fads
Fetal Akinesia Sequence	FADS1
Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia	Pena-Shokeir Syndrome Type 1
Fetal Akinesia Deformation Sequence Syndrome	Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome
Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia	Pena-Shokeir Syndrome, Type I
Foetal Akinesia Deformation Sequence Syndrome	Foetal Akinesia Sequence
Fetal Akinesia Deformation Sequence Syndrome 1	Pena-Shokeir Syndrome, Type 1
Pena Shokeir Syndrome, Type 1	Akinesia, Fetal, Deformation Sequence
Akinesia, Fetal, Deformation Sequence, Type 1	Pena-Shokeir Syndrome Type I

Lissencephaly

Pachygyria	Broad Gyri Of Cerebrum
Large Gyri Of Cerebrum	Macrogyria

Distal Arthrogryposis

Arthrogryposis Multiplex Congenita	Arthrogryposis
Congenital Multiple Arthrogryposis	Congenital Arthromyodysplasia
Fibrous Ankylosis Of Multiple Joints	Guerin-Stern Syndrome
Guérin-Stern Syndrome	Myodystrophia Fetalis Deformans
Otto Syndrome	Rocher-Sheldon Syndrome
Rossi Syndrome	Amc
Multiple Congenital Arthrogryposis	Arthrogryposis Syndrome
Arthrogryposis, Distal	Distal Arthrogryposis Syndrome
Freeman-Sheldon Syndrome	Arthrogryposis, Distal, Type 2b
Congenital Multiplex Arthrogryposis	Amyoplasia Congenita
Congenital Amyoplasia	Amc - [Arthrogryposis Multiplex Congenita]

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Primary Microcephaly

True Microcephaly

Microcephaly, Primary

Microcephaly 17, Primary, Autosomal Recessive

MCPH17

Primary Autosomal Recessive Microcephaly 17

Seckel Syndrome 4

SCKL4

Seckel Syndrome, Type 4

Microcephaly, Autosomal Dominant

Autosomal Dominant Microcephaly	Microcephaly Autosomal Dominant
Autosomal Dominant Primary Microcephaly	Microcephaly With Autosomal Dominant Inheritance

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

Microcephaly 18, Primary, Autosomal Dominant

MCPH18

Primary Autosomal Dominant Microcephaly 18

Microcephaly 9, Primary, Autosomal Recessive

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

Microcephaly 13, Primary, Autosomal Recessive

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

Microlissencephaly

Angelman Syndrome

AS	Happy Puppet Syndrome
Happy Puppet Syndrome, Formerly	Puppetlike Syndrome

Uterine Adnexa Cancer

Physical Disorder

Physical Illness

Seckel Syndrome

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

Periventricular Nodular Heterotopia

Periventricular Heterotopia	Pvnh
Familial Nodular Heterotopia	Heterotopia, Periventricular
Periventricular Heterotopia, X-Linked

Band Heterotopia

Subcortical Band Heterotopia	Double Cortex Syndrome
Subcortical Laminar Heterotopia	Double Cortex
Band Heterotopia Of Brain	BH
Heco	Heterotopic Cortex
Familial Band Heterotopia	Dc
Dc Syndrome	Heterotopia, Subcortical Band
Sbh	Sclh
Bhy

Miller-Dieker Lissencephaly Syndrome

Miller-Dieker Syndrome	Mds
MDLS	Miller Dieker Syndrome
Classical Lissencephaly Syndrome	Lissencephaly Due To 17p13.3 Deletion
Monosomy 17p13.3	Telomeric Deletion 17p
Classical Lissencephaly

Chromosome 2q35 Duplication Syndrome

Syndactyly	Syndactyly Type 1
Sdty1	Zygodactyly
Syndactyly, Type I	Sd1
Syndactyly, Type 1, With Or Without Craniosynostosis	Symphalangism
Non-Syndromic Syndactyly	Symphalangy
Webbing Of Digits	Syndactyly, Type 1

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

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-RS01104	ASPM Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	ASPM	MGD	MGI:1334448
Rattus norvegicus	ASPM	RGD	RGD:1307111
Felis catus	ASPM	VGNC	VGNC:59978
Canis familiaris	ASPM	VGNC	VGNC:38189
Macaca mulatta	ASPM	VGNC	VGNC:70099
Bos taurus	ASPM	VGNC	VGNC:109384

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