CHAMP1 - chromosome alignment maintaining phosphoprotein 1 Gene

中文名称：染色体比对维持磷蛋白 1

种属: Homo sapiens

同用名: CAMP; CHAMP; MRD40; ZNF828; C13orf8; NEDHILD

基因 ID: 283489 | 基因类型: protein coding

关于 CHAMP1

Cytogenetic location: 13q34 Genomic coordinates (GRCh38): 13:114,314,503-114,327,322 (from NCBI)

This gene has 10 transcripts (splice variants), 109 orthologues and is associated with 3 phenotypes. Ubiquitous expression in lymph node (RPKM 8.7), thyroid (RPKM 6.7) and 25 other tissues.

功能概要

该基因编码一种锌指蛋白，它作为有丝分裂中染色体分离的调节剂发挥作用。编码的蛋白质是染色体在中期板上正确对齐所必需的，并且在维持姐妹动粒与纺锤体相对微管的连接方面发挥作用。该基因的突变与常染色体显性遗传形式的智力障碍有关。[RefSeq 提供，2017 年 7 月]

This gene encodes a zinc finger protein that functions as a regulator of chromosome segregation in mitosis. The encoded protein is required for correct alignment of chromosomes on the metaphase plate, and plays a role in maintaining the attachment of sister kinetochores to microtubules from opposite spindle poles. Mutations in this gene are associated with an autosomal dominant form of intellectual disability. [provided by RefSeq, Jul 2017]

CHAMP1 基因产物(3)

mRNA	Protein	Name
NM_001164144.3	NP_001157616.1	chromosome alignment-maintaining phosphoprotein 1
NM_001164145.3	NP_001157617.1	chromosome alignment-maintaining phosphoprotein 1
NM_032436.4	NP_115812.1	chromosome alignment-maintaining phosphoprotein 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 protein binding	IPI IPI: 通过物理相互作用推断	20850016	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in attachment of mitotic spindle microtubules to kinetochore	IMP IMP: 通过突变表型推断	21063390	GOA
involved in protein localization to kinetochore	IMP IMP: 通过突变表型推断	21063390	GOA
involved in protein localization to microtubule	IMP IMP: 通过突变表型推断	21063390	GOA
involved in sister chromatid biorientation	IMP IMP: 通过突变表型推断	21063390	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in condensed chromosome	IDA IDA: 通过直接分析推断	21063390	GOA
located in kinetochore	IDA IDA: 通过直接分析推断	21063390	GOA
located in nucleus	IDA IDA: 通过直接分析推断	21063390	GOA
located in spindle	IDA IDA: 通过直接分析推断	21063390	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

chromosome alignment-maintaining phosphoprotein 1

zinc finger protein 828

CHAMP1 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	CHAMP1	Q96JM3	MAD2L2	Homo sapiens	Q9UI95	Far-WB	21063390
种属内	CHAMP1	Q96JM3	MAD2L2	Homo sapiens	Q9UI95	Anti Bait CoIP	21063390

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

Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features

NEDHILD	Intellectual Developmental Disorder, Autosomal Dominant 40, Formerly
Mrd40, Formerly	Mental Retardation, Autosomal Dominant 40, Formerly
Intellectual Developmental Disorder, Autosomal Dominant 40	MRD40

Autosomal Dominant Intellectual Disability 40

Intellectual Disability, Autosomal Dominant 40

Autosomal Dominant Non-Syndromic Intellectual Disability

Autosomal Dominant Intellectual Developmental Disorder 40

Autosomal Dominant Non-Syndromic Intellectual Disability 40	Autosomal Dominant Mental Retardation 40
Mrd40	Mental Retardation, Autosomal Dominant 40

Mosaic Variegated Aneuploidy Syndrome 2

MVA2	Mosaic Variegated Aneuploidy Syndrome, Type 2

Mosaic Variegated Aneuploidy Syndrome 1

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

Intellectual Developmental Disorder, Autosomal Dominant 43

MRD43	Autosomal Dominant Non-Syndromic Intellectual Disability 43
Autosomal Dominant Intellectual Developmental Disorder 43	Autosomal Dominant Mental Retardation 43

Macular Dystrophy, Patterned, 2

Patterned Macular Dystrophy 2	MDPT2
Macular Dystrophy, Butterfly-Shaped Pigmentary, 2	Butterfly-Shaped Pigmentary Maculary Dystrophy 2

Intellectual Developmental Disorder, Autosomal Dominant 35

MRD35	Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Autosomal Dominant Non-Syndromic Intellectual Disability 35	Mental Retardation, Autosomal Dominant 35
Autosomal Dominant Intellectual Developmental Disorder 35	Autosomal Dominant Mental Retardation 35
Mental Retardation, Autosomal Dominant, Type 35

Chromosome 10q23 Deletion Syndrome

Ritscher-Schinzel Syndrome 2

RTSC2

Alternating Exotropia

Exotropia

Patterned Macular Dystrophy

Patterned Dystrophy Of Retinal Pigment Epithelium

Mosaic Variegated Aneuploidy Syndrome

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

Primary Autosomal Recessive Microcephaly

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

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-153881	KRAS G12C degrader-1		/	否
HY-RS02596	CHAMP1 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	CHAMP1	MGD	MGI:1196398
Canis familiaris	CHAMP1	VGNC	VGNC:39191
Felis catus	CHAMP1	VGNC	VGNC:82356
Macaca mulatta	CHAMP1	VGNC	VGNC:71061
Rattus norvegicus	CHAMP1	RGD	RGD:1311283
Bos taurus	CHAMP1	VGNC	VGNC:27268

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