2. Gene
  3. CBLL1 - Cbl proto-oncogene like 1 Gene

CBLL1 - Cbl proto-oncogene like 1 Gene

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

中文名称：Cbl 原癌基因样 1

种属: Homo sapiens

同用名: HAKAI; RNF188

基因 ID: 79872 | 基因类型: protein coding

关于 CBLL1

Cytogenetic location: 7q22.3 Genomic coordinates (GRCh38): 7:107,744,142-107,761,667 (from NCBI)

This gene has 9 transcripts (splice variants), 191 orthologues and 1 paralogue. Ubiquitous expression in colon (RPKM 9.2), testis (RPKM 4.9) and 25 other tissues.

功能概要

该基因编码 E-钙粘蛋白复合物的 E3 泛素连接酶，并介导其在溶酶体中的泛素化、内吞作用和降解。编码的蛋白质包含一个环指结构域，也被认为在控制细胞增殖方面发挥作用。已在 X 染色体上鉴定出一个相关的假基因。可变剪接导致非编码转录本变体。[RefSeq 提供，2011 年 8 月]

This gene encodes an E3 ubiquitin-ligase for the E-cadherin complex and mediates its ubiquitination, endocytosis, and degradation in the lysosomes. The encoded protein contains a RING-finger domain and is also thought to have a role in control of cell proliferation. A related pseudogene has been identified on chromosome X. Alternative splicing results in a non-coding transcript variant. [provided by RefSeq, Aug 2011]

CBLL1 基因产物(2)

mRNA Protein Name
NM_001284291.2 NP_001271220.1 E3 ubiquitin-protein ligase Hakai isoform 2
NM_024814.4 NP_079090.2 E3 ubiquitin-protein ligase Hakai isoform 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
11836526 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cell-cell adhesion IDA
IDA: 通过直接分析推断
11836526 GOA
involved in mRNA processing IMP
IMP: 通过突变表型推断
29507755 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of RNA N6-methyladenosine methyltransferase complex IDA
IDA: 通过直接分析推断
29507755 GOA
part of RNA N6-methyladenosine methyltransferase complex IPI
IPI: 通过物理相互作用推断
29507755 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

E3 ubiquitin-protein ligase Hakai

Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1

关联疾病

疾病名称 别名
Wilms Tumor 1

Nephroblastoma

Wilms Tumor

WT1

Wilms' Tumor

Bilateral Wilms Tumor

Wilms Tumor, Type 1

Wilms Tumor, Somatic

Adult Nephroblastoma

Wt1 Disorder

Renal Embryonic Tumor

Adult Kidney Wilms Tumor

Childhood Kidney Wilms Tumor

Nonanaplastic Kidney Wilms Tumor
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 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS02000 CBLL1 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS20871 Cbll1 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS27388 Cbll1 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus CBLL1 RGD RGD:1310703
Felis catus CBLL1 VGNC VGNC:80016
Bos taurus CBLL1 VGNC VGNC:53630
Mus musculus CBLL1 MGD MGI:2144842
Canis familiaris CBLL1 VGNC VGNC:56086
Macaca mulatta CBLL1 VGNC VGNC:70597
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