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  3. MCPH1 - microcephalin 1 Gene

MCPH1 - microcephalin 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：小脑磷脂 1

种属: Homo sapiens

同用名: MCT; BRIT1

基因 ID: 79648 | 基因类型: protein coding

关于 MCPH1

Cytogenetic location: 8p23.1 Genomic coordinates (GRCh38): 8:6,406,627-6,648,508 (from NCBI)

This gene has 39 transcripts (splice variants), 1 gene allele, 203 orthologues and is associated with 3 phenotypes. Ubiquitous expression in bone marrow (RPKM 1.3), testis (RPKM 1.1) and 25 other tissues.

功能概要

该基因编码一种 DNA 损伤反应蛋白。编码的蛋白质可能通过维持细胞周期蛋白依赖性激酶 1 的抑制性磷酸化而在 G2/M 检查点停滞中发挥作用。该基因的突变与原发性常染色体隐性小头畸形 1 和过早染色体浓缩综合征有关。已经描述了选择性剪接的转录物变体。[RefSeq 提供，2010 年 2 月]

This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]

MCPH1 基因产物(10)

mRNA Protein Name
NM_001172574.2 NP_001166045.2 microcephalin isoform 2
NM_001172575.2 NP_001166046.1 microcephalin isoform 3
NM_001322042.2 NP_001308971.2 microcephalin isoform 4
NM_001322043.2 NP_001308972.2 microcephalin isoform 5
NM_001322045.2 NP_001308974.2 microcephalin isoform 6
NM_001363979.1 NP_001350908.1 microcephalin isoform 7
NM_001363980.2 NP_001350909.1 microcephalin isoform 8
NM_001410916.1 NP_001397845.1 microcephalin isoform 9
NM_001410917.1 NP_001397846.1 microcephalin isoform 10
NM_024596.5 NP_078872.3 microcephalin isoform 1
基因本体论
  • 分子功能
  • 生物过程
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
18660752 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
18660752 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
12837246 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

MCPH1 蛋白结构

PTCB-BRCT

PTCB-BRCT: twin BRCT domain (9 - 75)

Microcephalin

Microcephalin: Microcephalin protein (225 - 608)

BRCT

BRCT: BRCA1 C Terminus (BRCT) domain (670 - 714)

  • 0
  • 200
  • 400
  • 600
  • 835 a.a.
蛋白主名 其他名称

microcephalin

BRCT-repeat inhibitor of TERT expression 1

MCPH1 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
Intra MCPH1 Q8NEM0 MCPH1 Homo sapiens Q8NEM0
Anti Tag CoIP
18660752
Intra MCPH1 Q8NEM0 TERF2 Homo sapiens Q15554
Pull Down
19287395
Intra MCPH1 Q8NEM0 E2F2 Homo sapiens Q14209
Anti Tag CoIP
18660752
Intra MCPH1 Q8NEM0 E2F1 Homo sapiens Q01094
Pull Down
18660752
Intra MCPH1 Q8NEM0 E2F1 Homo sapiens Q01094
Anti Tag CoIP
18660752
Intra MCPH1 Q8NEM0 KDM1A Homo sapiens O60341
Y2H
23455924
Intra MCPH1 Q8NEM0 E2F1 Homo sapiens Q01094
Anti Bait CoIP
18660752
Intra MCPH1 Q8NEM0 TERF2 Homo sapiens Q15554
BiFC
19287395
Intra MCPH1 Q8NEM0 MCPH1 Homo sapiens Q8NEM0
BiFC
18660752
Intra MCPH1 Q8NEM0 TADA2A Homo sapiens O75478
Y2H Array
21988832
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 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
Lymphatic Malformation 10

LMPHM10

Lymphatic Malformation, Type 10
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
Seckel Syndrome

Microcephalic Primordial Dwarfism

Bird-Headed Dwarfism

Harper'S Syndrome

Virchow-Seckel Dwarfism

Nanocephalic Dwarfism

Sckl

Seckel-Type Dwarfism
Microcephaly 12, Primary, Autosomal Recessive

MCPH12

Primary Autosomal Recessive Microcephaly 12

Microcephaly, Type 12, 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
Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder
Microcephaly 18, Primary, Autosomal Dominant

MCPH18

Primary Autosomal Dominant Microcephaly 18
Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder
Microcephaly 11, Primary, Autosomal Recessive

MCPH11

Primary Autosomal Recessive Microcephaly 11

Microcephaly, Type 11, Primary, Autosomal Recessive
Ataxia-Telangiectasia

Ataxia Telangiectasia

Louis-Bar Syndrome

AT

At1

Ataxia-Telangiectasia Syndrome

Ataxia - Telangiectasia Variant

Boder-Sedgwick Syndrome

Louis Bar Syndrome

Cerebello-Oculocutaneous Telangiectasia

Immunodeficiency With Ataxia Telangiectasia

A-T

Ataxia Telangiectasia Syndrome

Atm

Telangiectasia, Cerebello-Oculocutaneous

Ataxia-Telangiectasia Variant
Microcephaly 17, Primary, Autosomal Recessive

MCPH17

Primary Autosomal Recessive Microcephaly 17
Microcephaly 13, Primary, Autosomal Recessive

MCPH13

Primary Autosomal Recessive Microcephaly 13

Microcephaly, Type 13, Primary, Autosomal Recessive
Microcephaly 9, Primary, Autosomal Recessive

MCPH9

Primary Autosomal Recessive Microcephaly 9

Microcephaly, Type 9, Primary, Autosomal Recessive
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 14, Primary, Autosomal Recessive

MCPH14

Primary Autosomal Recessive Microcephaly 14

Microcephaly, Type 14, Primary, Autosomal Recessive
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
Seckel Syndrome 5

SCKL5

Seckel Syndrome, Type 5
Seckel Syndrome 4

SCKL4

Seckel Syndrome, Type 4
Tympanosclerosis

Ts - [Tympanosclerosis]

Tympanic Membrane Sclerosis
Tympanic Membrane Disease

Disorder Of Tympanic Membrane
Seckel Syndrome 2

SCKL2

Seckel-Type Dwarfism 2

Microcephalic Primordial Dwarfism 2

Bird-Headed Dwarfism 2

Seckel Syndrome, Type 2
Physical Disorder

Physical Illness
Cerebral Palsy

Infantile Cerebral Palsy

Mixed Cerebral Palsy

Palsy Cerebral

Palsy, Cerebral

Cerebral Palsy, Mixed
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
Autosomal Recessive Intellectual Developmental Disorder

Mental Retardation, Autosomal Recessive

Autosomal Recessive Mental Retardation

Autosomal Recessive Non-Syndromic Mental Retardation

Autosomal Recessive Non-Syndromic Intellectual Disability
Periventricular Nodular Heterotopia

Periventricular Heterotopia

Pvnh

Familial Nodular Heterotopia

Heterotopia, Periventricular

Periventricular Heterotopia, X-Linked
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
Williams-Beuren Syndrome

Williams Syndrome

WBS

Wms

Deletion 7q11.23

Monosomy 7q11.23

Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

Fanconi Schlesinger Syndrome

Beuren Syndrome

Elfin Facies Syndrome

Elfin Facies With Hypercalcemia

Hypercalcemia-Supravalvar Aortic Stenosis

Ws
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS08247 MCPH1 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 MCPH1 VGNC VGNC:107346
Canis familiaris MCPH1 VGNC VGNC:43091
Mus musculus MCPH1 MGD MGI:2443308
Bos taurus MCPH1 VGNC VGNC:31321
Rattus norvegicus MCPH1 RGD RGD:1560642
Macaca mulatta MCPH1 VGNC VGNC:74687
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