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  3. TBC1D1 - TBC1 domain family member 1 Gene

TBC1D1 - TBC1 domain family member 1 Gene

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

中文名称：TBC1 域家族成员 1

种属: Homo sapiens

同用名: TBC; TBC1

基因 ID: 23216 | 基因类型: protein coding

关于 TBC1D1

Cytogenetic location: 4p14 Genomic coordinates (GRCh38): 4:37,891,084-38,139,173 (from NCBI)

This gene has 20 transcripts (splice variants), 206 orthologues and 45 paralogues. Ubiquitous expression in endometrium (RPKM 22.4), kidney (RPKM 18.2) and 24 other tissues.

功能概要

TBC1D1 是一个蛋白质家族的创始成员，共有一个 180 到 200 个氨基酸的 TBC 结构域，推测在调节细胞生长和分化中发挥作用。这些蛋白质与 TRE2 (USP6；MIM 604334) 、酵母 Bub2 和 CDC16 (MIM 603461) 具有显着的同源性 (White 等人，2000 [PubMed 10965142]) 。[OMIM 提供，2008 年 3 月]

TBC1D1 is the founding member of a family of proteins sharing a 180- to 200-amino acid TBC domain presumed to have a role in regulating cell growth and differentiation. These proteins share significant homology with TRE2 (USP6; MIM 604334), yeast Bub2, and CDC16 (MIM 603461) (White et al., 2000 [PubMed 10965142]).[supplied by OMIM, Mar 2008]

TBC1D1 基因产物(6)

mRNA Protein Name
NM_001253912.2 NP_001240841.1 TBC1 domain family member 1 isoform 2
NM_001253913.2 NP_001240842.1 TBC1 domain family member 1 isoform 3
NM_001253914.2 NP_001240843.1 TBC1 domain family member 1 isoform 3
NM_001253915.2 NP_001240844.1 TBC1 domain family member 1 isoform 4
NM_001396959.1 NP_001383888.1 TBC1 domain family member 1 isoform 5
NM_015173.4 NP_055988.2 TBC1 domain family member 1 isoform 1
基因本体论
  • 分子功能
  • 生物过程
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
22354992 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
NOT involved in regulation of cilium assembly IMP
IMP: 通过突变表型推断
17646400 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

TBC1D1 蛋白结构

PID

PID: Phosphotyrosine interaction domain (PTB/PID) (286 - 376)

DUF3350

DUF3350: Domain of unknown function (DUF3350) (690 - 745)

RabGAP-TBC

RabGAP-TBC: Rab-GTPase-TBC domain (805 - 1014)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1168 a.a.
蛋白主名 其他名称

TBC1 domain family member 1

TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1

TBC1D1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra TBC1D1 Q86TI0 TNNC2 Homo sapiens P02585
Y2H Prey Pooling
32296183
Intra TBC1D1 Q86TI0 TNNC2 Homo sapiens P02585
Y2H Array
32296183
Intra TBC1D1 Q86TI0 PNKP Homo sapiens Q96T60
Validated Y2H
32296183
Intra TBC1D1 Q86TI0 L3MBTL3 Homo sapiens Q96JM7-2
Validated Y2H
32296183
Intra TBC1D1 Q86TI0 L3MBTL3 Homo sapiens Q96JM7-2
Y2H Array
32296183
Intra TBC1D1 Q86TI0 L3MBTL3 Homo sapiens Q96JM7-2
Y2H Prey Pooling
32296183
Intra TBC1D1 Q86TI0 LZTS1 Homo sapiens Q9Y250
Validated Y2H
32296183
Intra TBC1D1 Q86TI0 LZTS1 Homo sapiens Q9Y250
Y2H Array
32296183
Intra TBC1D1 Q86TI0 LZTS1 Homo sapiens Q9Y250
Y2H Prey Pooling
32296183
Intra TBC1D1 Q86TI0 EFHC2 Homo sapiens Q5JST6
Y2H Prey Pooling
32296183
Intra TBC1D1 Q86TI0 EFHC2 Homo sapiens Q5JST6
Y2H Array
32296183
Intra TBC1D1 Q86TI0 GMCL1 Homo sapiens Q96IK5
Validated Y2H
32296183
Intra TBC1D1 Q86TI0 GMCL1 Homo sapiens Q96IK5
Y2H Array
32296183
Intra TBC1D1 Q86TI0 GMCL1 Homo sapiens Q96IK5
Y2H Prey Pooling
32296183
Intra TBC1D1 Q86TI0 VPS52 Homo sapiens Q8N1B4
Validated Y2H
32296183
Intra TBC1D1 Q86TI0 VPS52 Homo sapiens Q8N1B4
Y2H Array
32296183
Intra TBC1D1 Q86TI0 VPS52 Homo sapiens Q8N1B4
Y2H Prey Pooling
32296183
Intra TBC1D1 Q86TI0 KRT75 Homo sapiens O95678
Y2H Prey Pooling
32296183
Intra TBC1D1 Q86TI0 KRT75 Homo sapiens O95678
Y2H Array
32296183
Intra TBC1D1 Q86TI0 MCRS1 Homo sapiens Q96EZ8
Validated Y2H
32296183
Intra TBC1D1 Q86TI0 HSF2BP Homo sapiens O75031
Y2H Array
32296183
Intra TBC1D1 Q86TI0 HSF2BP Homo sapiens O75031
Y2H Prey Pooling
32296183
Intra TBC1D1 Q86TI0 LNX1 Homo sapiens Q8TBB1
Validated Y2H
32296183
Intra TBC1D1 Q86TI0 CCDC185 Homo sapiens Q8N715
Validated Y2H
32296183
Intra TBC1D1 Q86TI0 FAM50B Homo sapiens Q9Y247
Validated Y2H
32296183
Intra TBC1D1 Q86TI0 SYTL4 Homo sapiens Q96C24
Validated Y2H
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Warburg Micro Syndrome 1

Warburg Micro Syndrome

Micro Syndrome

Warbm

WARBM1

Warburg Sjo Fledelius Syndrome

Warburg-Sjo-Fledelius Syndrome

Micro Syndrome 1

Microcephaly, Microcornea, Congenital Cataract, Intellectual Disability, Optic Atrophy And Hypogenitalism
Colloid Adenoma

Macrofollicular Adenoma
Warburg Micro Syndrome 3

WARBM3

Micro Syndrome 3
Warburg Micro Syndrome 2

WARBM2

Micro Syndrome 2
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-RS14230 TBC1D1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus TBC1D1 VGNC VGNC:35623
Mus musculus TBC1D1 MGD MGI:1889508
Felis catus TBC1D1 VGNC VGNC:107471
Canis familiaris TBC1D1 VGNC VGNC:47129
Macaca mulatta TBC1D1 VGNC VGNC:78103
Rattus norvegicus TBC1D1 RGD RGD:1304562
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