2. Gene
  3. CENPS - centromere protein S Gene

CENPS - centromere protein S Gene

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

中文名称：着丝粒蛋白 S

种属: Homo sapiens

同用名: MHF1; APITD1; CENP-S; FAAP16

基因 ID: 378708 | 基因类型: protein coding

关于 CENPS

Cytogenetic location: 1p36.22 Genomic coordinates (GRCh38): 1:10,430,433-10,442,808 (from NCBI)

This gene has 5 transcripts (splice variants), 171 orthologues and 1 paralogue. Broad expression in testis (RPKM 21.7), kidney (RPKM 12.6) and 24 other tissues.

功能概要

该基因在染色体 1p36 上的神经母细胞瘤肿瘤抑制候选区域中被识别。它包含一个 TFIID-31 结构域，类似于在 TATA 盒结合蛋白相关因子 TAF (II) 31 中发现的结构域，这是 p53 介导的转录激活所必需的。该基因在神经母细胞瘤肿瘤中的表达水平非常低，并显示可减少神经母细胞瘤细胞的细胞生长，表明它可能在细胞死亡途径中发挥作用。该蛋白质是多个复合体的组成部分，包括范可尼贫血 (FA) 核心复合体、APITD1/CENPS 复合体和 CENPA-CAD (远端核小体) 复合体。已知的功能包括参与 FA 核心复合体的染色质关联，以及在外着丝粒的稳定组装中的作用。该基因的可变剪接导致多个转录变体。该基因和下游皮质抑素 (CORT) 基因之间也存在自然发生的通读转录本，如 GeneID:100526739 所示。已在 7 号染色体上鉴定出与 APITD1 相关的假基因。[RefSeq 提供，2010 年 11 月]

This gene was identified in the neuroblastoma tumor suppressor candidate region on chromosome 1p36. It contains a TFIID-31 domain, similar to that found in TATA box-binding protein-associated factor, TAF(II)31, which is required for p53-mediated transcription activation. This gene was expressed at very low levels in neuroblastoma tumors, and was shown to reduce cell growth in neuroblastoma cells, suggesting that it may have a role in a cell death pathway. The protein is a component of multiple complexes, including the Fanconi anemia (FA) core complex, the APITD1/CENPS complex, and the CENPA-CAD (nucleosome distal) complex. Known functions include an involvement with chromatin associations of the FA core complex, and a role in the stable assembly of the outer kinetochore. Alternative splicing of this gene results in multiple transcript variants. Naturally occurring read-through transcripts also exist between this gene and the downstream cortistatin (CORT) gene, as represented in GeneID:100526739. An APITD1-related pseudogene has been identified on chromosome 7. [provided by RefSeq, Nov 2010]

CENPS 基因产物(1)

mRNA Protein Name
NM_199294.3 NP_954988.1 centromere protein S
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 DNA binding IDA
IDA: 通过直接分析推断
20347429 GOA
enables chromatin binding IDA
IDA: 通过直接分析推断
20347429 GOA
contributes to double-stranded DNA binding IDA
IDA: 通过直接分析推断
20347428 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
20347429 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA damage response IDA
IDA: 通过直接分析推断
20347429 GOA
involved in DNA damage response IMP
IMP: 通过突变表型推断
20347428 GOA
involved in DNA repair IDA
IDA: 通过直接分析推断
20347429 GOA
involved in interstrand cross-link repair IDA
IDA: 通过直接分析推断
20347429 GOA
involved in replication fork processing IMP
IMP: 通过突变表型推断
20347428 GOA
involved in resolution of meiotic recombination intermediates IMP
IMP: 通过突变表型推断
20347428 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of FANCM-MHF complex IDA
IDA: 通过直接分析推断
20347428 GOA
part of FANCM-MHF complex IPI
IPI: 通过物理相互作用推断
20347429 GOA
part of Fanconi anaemia nuclear complex IDA
IDA: 通过直接分析推断
20347428 GOA
located in chromatin IDA
IDA: 通过直接分析推断
20347429 GOA
part of inner kinetochore IPI
IPI: 通过物理相互作用推断
36085283 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

CENPS 蛋白结构

CENP-S

CENP-S: CENP-S protein (17 - 92)

  • 0
  • 100
  • 138 a.a.
蛋白主名 其他名称

centromere protein S

FANCM associated histone fold protein 1

关联疾病

疾病名称 别名
Crest Syndrome
Neuroblastoma

Nb

Neuroblastoma, Susceptibility To

Neuroblastomas

Central Neuroblastoma
Dyskinesia Of Esophagus

Esophageal Motility Disorders

Dyskinesia Of Oesophagus

Esophageal Dysmotility

Esophageal Motility Disorder

Oesophageal Dysmotility

Oesophageal Motor Disorder

Esophageal Spasm
Limited Scleroderma

Limited Cutaneous Systemic Sclerosis

Limited Systemic Sclerosis

Systemic Sclerosis Sine Scleroderma

Crest Syndrome

Limited Cutaneous Systemic Scleroderma

Scleroderma, Limited

Systemic Sclerosis, Limited

Progressive Systemic Sclerosis Sine Scleroderma

Scleroderma, Sine

Crest - [Calcinosis, Raynaud Phenomenon, Oesophageal Dysmotility, Sclerodactyly, And Telangiectasia] Syndrome

Crst - [Calcinosis, Raynaud Phenomenon, Sclerodactyly And Telangiectasia] Syndrome
Telangiectasis

Telangiectasia
Aplastic Anemia

Aplastic Anemia, Susceptibility To

Anemia Aplastic

Idiopathic Aplastic Anemia

Secondary Aplastic Anemia

Idiopathic Bone Marrow Failure

Aplastic Anemia Idiopathic

AA

Anemia, Aplastic

Aplastic Anemia, Idiopathic

Erythroid Aplasia

Aa - [Aplastic Anaemia]

Haematopoietic Aplasia

Aleukia Haemorrhagica

Anaemia Due To Decreased Red Cell Production

Aplasia Bone Marrow

Aplastic Bone Marrow

Hypoplastic Anaemia Nos

Myeloid Bone Marrow Aplasia

Pancytopenia

Panhaematopenia

Hypoproliferative Anaemia

Medullary Hypoplasia

Red Blood Cells Hypoplastic Anaemia

Panmyelophthisis

Panhemocytopenia

Refractive Hypoproliferative Anaemia

Toxic Anaemia

Toxic Aplastic Anaemia

Aplastic Anaemia Due To Toxic Cause

Idiopathic Aplastic Anaemia Nos
Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia
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

Clinical Phase
生物活性分子 (1)
目录号 产品名 作用方式
纯度 Phase
HY-10299 GSK-923295 99.82% Phase 1
Pre-clinical Phase
生物活性分子 (8)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-19530 PF-2771 Inhibitor 99.66% 否
HY-121569 Syntelin Inhibitor 98.25% 否
HY-150265 TNH Activator / 否
HY-161897 CENP-E-IN-2 Inhibitor / 否
HY-161898 CENP-E-IN-3 Inhibitor / 否
HY-163288 EZH2/HSP90-IN-29 / 否
HY-RS02490 CENPS Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-110090 UA62784 / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus CENPS RGD RGD:5128728
Mus musculus CENPS MGD MGI:1917178
嗨！很高兴为您提供帮助！

尊敬的 MCE 客户您好，
请您选择所在区域，我们将转接对应客服为您服务！

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

热 A B C F G H J L N Q S T X Y Z