2. Gene
  3. CEP295 - centrosomal protein 295 Gene

CEP295 - centrosomal protein 295 Gene

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

中文名称：中心体蛋白 295

种属: Homo sapiens

同用名: KIAA1731

基因 ID: 85459 | 基因类型: protein coding

关于 CEP295

Cytogenetic location: 11q21 Genomic coordinates (GRCh38): 11:93,661,682-93,730,358 (from NCBI)

This gene has 7 transcripts (splice variants), 151 orthologues and 3 paralogues. Ubiquitous expression in testis (RPKM 2.8), lymph node (RPKM 2.0) and 25 other tissues.

功能概要

启用微管结合活动。参与多个过程，包括中心粒复制；蛋白质乙酰化的正调控；和中心体复制的调节。位于胞质溶胶中；微管细胞骨架；和质膜。 [由基因组资源联盟提供，2022 年 4 月]

Enables microtubule binding activity. Involved in several processes, including centriole replication; positive regulation of protein acetylation; and regulation of centrosome duplication. Located in cytosol; microtubule cytoskeleton; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

CEP295 基因产物(1)

mRNA Protein Name
NM_033395.2 NP_203753.1 centrosomal protein of 295 kDa
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
27185865 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in centriole replication IDA
IDA: 通过直接分析推断
32060285 GOA
involved in positive regulation of centriole elongation IMP
IMP: 通过突变表型推断
27185865 GOA
involved in positive regulation of centrosome duplication IDA
IDA: 通过直接分析推断
25131205 GOA
involved in positive regulation of establishment of protein localization IMP
IMP: 通过突变表型推断
27185865 GOA
involved in positive regulation of protein acetylation IMP
IMP: 通过突变表型推断
27185865 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in centriole IDA
IDA: 通过直接分析推断
25131205 GOA
located in centrosome IDA
IDA: 通过直接分析推断
20844083 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
20844083 GOA
located in cytoskeleton IDA
IDA: 通过直接分析推断
20844083 GOA
located in mitotic spindle microtubule IDA
IDA: 通过直接分析推断
27185865 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

CEP295 蛋白结构

ALMS_motif

ALMS_motif: ALMS motif (2476 - 2599)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2000
  • 2400
  • 2601 a.a.
蛋白主名 其他名称

centrosomal protein of 295 kDa

centriolar protein CEP295

关联疾病

疾病名称 别名
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

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-RS02512 CEP295 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus CEP295 VGNC VGNC:27202
Rattus norvegicus CEP295 RGD RGD:1311723
Felis catus CEP295 VGNC VGNC:60772
Mus musculus CEP295 MGD MGI:2442521
Canis familiaris CEP295 VGNC VGNC:39126
Macaca mulatta CEP295 VGNC VGNC:71135
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