2. Gene
  3. CNTRL - centriolin Gene

CNTRL - centriolin Gene

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

中文名称：中心蛋白

种属: Homo sapiens

同用名: FAN; CEP1; CEP110; bA165P4.1

基因 ID: 11064 | 基因类型: protein coding

关于 CNTRL

Cytogenetic location: 9q33.2 Genomic coordinates (GRCh38): 9:121,074,955-121,177,610 (from NCBI)

This gene has 34 transcripts (splice variants), 190 orthologues and is associated with 74 phenotypes. Broad expression in testis (RPKM 22.4), lymph node (RPKM 12.1) and 21 other tissues.

功能概要

该基因编码中心体作为微管组织中心所需的中心体蛋白。基因产物也与中心体成熟有关。一种干细胞骨髓增生性疾病是 8 号和 9 号染色体相互易位的结果，断点与成纤维细胞生长因子受体 1 和中心体蛋白 1 相关。[RefSeq 提供，2008 年 7 月]

This gene encodes a centrosomal protein required for the centrosome to function as a microtubule organizing center. The gene product is also associated with centrosome maturation. One version of stem cell myeloproliferative disorder is the result of a reciprocal translocation between chromosomes 8 and 9, with the breakpoint associated with Fibroblast Growth Factor receptor 1 and centrosomal protein 1. [provided by RefSeq, Jul 2008]

CNTRL 基因产物(7)

mRNA Protein Name
NM_001330762.2 NP_001317691.1 centriolin isoform 2
NM_001369892.1 NP_001356821.1 centriolin isoform 3
NM_001369893.1 NP_001356822.1 centriolin isoform 4
NM_001369894.1 NP_001356823.1 centriolin isoform 5
NM_001369895.1 NP_001356824.1 centriolin isoform 6
NM_001369896.1 NP_001356825.1 centriolin isoform 7
NM_007018.6 NP_008949.4 centriolin isoform 1
基因本体论
  • 分子功能
  • 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
17140400 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of centriolar subdistal appendage IDA
IDA: 通过直接分析推断
23213374 GOA
located in centrosome IDA
IDA: 通过直接分析推断
15337773 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

CNTRL 蛋白结构

LRR_9

LRR_9: Leucine-rich repeat (130 - 275)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2000
  • 2325 a.a.
蛋白主名 其他名称

centriolin

110 kDa centrosomal protein

关联疾病

疾病名称 别名
Cortical Deafness
Auditory Agnosia
Lymphoblastic Lymphoma

Lymphoma, Lymphoblastic

Lymphoma Lymphoblastic

Precursor Cell Lymphoblastic Lymphoma

Precursor Cell Lymphoblastic Leukemia Lymphoma
Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly

Mcph

True Microcephaly

Microcephalia Vera

Microcephaly Vera

Microcephaly Primary Hereditary

Microcephaly, Primary, Autosomal Recessive

Primary Microcephaly
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-RS02938 CNTRL 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 CNTRL VGNC VGNC:52755
Macaca mulatta CNTRL VGNC VGNC:71204
Canis familiaris CNTRL VGNC VGNC:51704
Rattus norvegicus CNTRL RGD RGD:1305317
Mus musculus CNTRL MGD MGI:1889576
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