1. Gene
  2. TBL1Y - transducin beta like 1 Y-linked Gene

TBL1Y - transducin beta like 1 Y-linked Gene

中文名称:转导蛋白 β 样 1 Y 连锁

种属: Homo sapiens

同用名: TBL1; DFNY2

基因 ID: 90665 | 基因类型: protein coding

关于 TBL1Y

Cytogenetic location: Yp11.2 Genomic coordinates (GRCh38): Y:6,909,865-7,105,688 (from NCBI)

This gene has 4 transcripts (splice variants), 123 orthologues, 2 paralogues and is associated with 1 phenotype. Low expression observed in reference dataset.

功能概要

该基因编码的蛋白质与含有 WD40 重复序列的蛋白质家族成员具有序列相似性。 WD40 组是一大类蛋白质,似乎具有调节功能。据信,WD40 重复序列介导蛋白质-蛋白质相互作用,该家族成员参与信号转导、RNA 加工、基因调控、囊泡运输、细胞骨架组装,并可能在细胞型分化的控制中发挥作用。该基因与 TBL1X 基因在核苷酸序列和蛋白质序列上高度相似,但 TBL1X 基因位于 X 染色体,该基因位于 Y 染色体。该基因具有编码相同蛋白质的三个可变剪接转录本变异体。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This gene is highly similar to TBL1X gene in nucleotide sequence and protein sequence, but the TBL1X gene is located on chromosome X and this gene is on chromosome Y. This gene has three alternatively spliced transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]

TBL1Y 基因产物(3)

mRNA Protein Name
NM_033284.2 NP_150600.1 F-box-like/WD repeat-containing protein TBL1Y
NM_134258.2 NP_599020.1 F-box-like/WD repeat-containing protein TBL1Y
NM_134259.2 NP_599021.1 F-box-like/WD repeat-containing protein TBL1Y
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
30341416 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
30341416 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

TBL1Y 蛋白结构

LisH

LisH: LisH (6 - 32)

WD40

WD40: WD domain, G-beta repeat (173 - 207)

WD40

WD40: WD domain, G-beta repeat (236 - 262)

WD40

WD40: WD domain, G-beta repeat (269 - 304)

WD40

WD40: WD domain, G-beta repeat (351 - 387)

WD40

WD40: WD domain, G-beta repeat (393 - 438)

WD40

WD40: WD domain, G-beta repeat (442 - 480)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 522 a.a.
蛋白主名 其他名称

F-box-like/WD repeat-containing protein TBL1Y

transducin beta-like 1

TBL1Y 抗体

目录号 产品名 应用 反应物种
HY-P85473 TBL1Y Antibody (YA5165) WB Human, Mouse, Rat, Dog, Pig

关联疾病

疾病名称 别名
Deafness, Y-Linked 2

DFNY2

Y-Linked Deafness 2

Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency

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

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta TBL1Y VGNC VGNC:101432
Mus musculus TBL1Y MGD MGI:1336172