2. Gene
  3. TBC1D7 - TBC1 domain family member 7 Gene

TBC1D7 - TBC1 domain family member 7 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 7

种属: Homo sapiens

同用名: TBC7; MGCPH; PIG51

基因 ID: 51256 | 基因类型: protein coding

关于 TBC1D7

Cytogenetic location: 6p24.1 Genomic coordinates (GRCh38): 6:13,304,951-13,328,537 (from NCBI)

This gene has 21 transcripts (splice variants), 202 orthologues and is associated with 2 phenotypes. Ubiquitous expression in heart (RPKM 3.4), testis (RPKM 2.6) and 25 other tissues.

功能概要

该基因编码含有 TBC 结构域的蛋白质家族成员。编码的蛋白质作为结节性硬化症 TSC1-TSC2 复合物的一个亚基起作用，在细胞生长和分化的调节中发挥作用。该基因的突变与常染色体隐性巨脑畸形有关。可变剪接导致多个转录本变体。自然发生的通读转录发生在该基因座和下游 LOC100130357 之间。[RefSeq 提供，2016 年 1 月]

This gene encodes a member of the TBC-domain containing protein family. The encoded protein functions as a subunit of the tuberous sclerosis TSC1-TSC2 complex which plays a role in the regulation of cellular growth and differentiation. Mutations in this gene have been associated with autosomal recessive megalencephaly. Alternative splicing results in multiple transcript variants. Naturally occurring readthrough transcription occurs between this locus and downstream LOC100130357. [provided by RefSeq, Jan 2016]

TBC1D7 基因产物(7)

mRNA Protein Name
NM_001143964.4 NP_001137436.1 TBC1 domain family member 7 isoform a
NM_001143965.4 NP_001137437.1 TBC1 domain family member 7 isoform a
NM_001143966.4 NP_001137438.1 TBC1 domain family member 7 isoform b
NM_001258457.3 NP_001245386.1 TBC1 domain family member 7 isoform c
NM_001318805.2 NP_001305734.1 TBC1 domain family member 7 isoform a
NM_001318806.2 NP_001305735.1 TBC1 domain family member 7 isoform d
NM_016495.6 NP_057579.1 TBC1 domain family member 7 isoform a
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 GTPase activator activity IDA
IDA: 通过直接分析推断
17646400 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
17658474 GOA
enables small GTPase binding IPI
IPI: 通过物理相互作用推断
17646400 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in activation of GTPase activity IMP
IMP: 通过突变表型推断
22795129 GOA
involved in cellular response to starvation IDA
IDA: 通过直接分析推断
24529379 GOA
involved in negative regulation of TOR signaling IDA
IDA: 通过直接分析推断
22795129 GOA
involved in negative regulation of TOR signaling IMP
IMP: 通过突变表型推断
22795129 GOA
involved in negative regulation of TORC1 signaling IDA
IDA: 通过直接分析推断
24529379 GOA
involved in negative regulation of cilium assembly IMP
IMP: 通过突变表型推断
17646400 GOA
involved in positive regulation of GTPase activity IDA
IDA: 通过直接分析推断
17646400 GOA
involved in positive regulation of protein ubiquitination IDA
IDA: 通过直接分析推断
17658474 GOA
involved in response to growth factor IMP
IMP: 通过突变表型推断
22795129 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of TSC1-TSC2 complex IDA
IDA: 通过直接分析推断
24529379 GOA
part of TSC1-TSC2 complex IPI
IPI: 通过物理相互作用推断
22795129 GOA
located in ciliary basal body IDA
IDA: 通过直接分析推断
17646400 GOA
located in cytoplasmic vesicle IDA
IDA: 通过直接分析推断
17658474 GOA
located in cytosol IDA
IDA: 通过直接分析推断
24529379 GOA
is active in lysosomal membrane IDA
IDA: 通过直接分析推断
24529379 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

TBC1D7 蛋白结构

RabGAP-TBC

RabGAP-TBC: Rab-GTPase-TBC domain (145 - 247)

  • 0
  • 100
  • 200
  • 293 a.a.
蛋白主名 其他名称

TBC1 domain family member 7

TBC domain family 7

关联疾病

疾病名称 别名
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive

MGCPH
Isolated Megalencephaly

Isolated Macrencephaly
Megalencephaly

Macroencephaly

Macrencephaly
Tuberous Sclerosis

Tuberous Sclerosis Syndrome

Bourneville'S Disease

Epiloia

Cerebral Sclerosis

Tuberose Sclerosis

Tuberous Sclerosis 1

Bourneville Disease

Bourneville Phakomatosis

Pringle'S Disease
Subependymal Glioma

Mixed Subependymoma-Ependymoma

Subependymal Astrocytoma

Who Grade I Ependymal Tumor

Glioma, Subependymal
Benign Ependymoma

Ependymoma

Epithelial Ependymoma

Who Grade Ii Ependymal Tumor

Myxopapillary Ependymoma
Kidney Angiomyolipoma

Angiomyolipoma Of Kidney

Renal Angiomyolipoma
Astigmatism
Subependymal Giant Cell Astrocytoma

Sega

Astrocytoma Subependymal Giant Cell

Subependymal Giant-Cell Astrocytoma
Kidney Benign Neoplasm

Renal And Ureteral Tumor

Benign Kidney Neoplasm
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-RS14246 TBC1D7 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 TBC1D7 VGNC VGNC:50071
Mus musculus TBC1D7 MGD MGI:1914296
Macaca mulatta TBC1D7 VGNC VGNC:104432
Felis catus TBC1D7 VGNC VGNC:102531
Canis familiaris TBC1D7 VGNC VGNC:49771
嗨！很高兴为您提供帮助！

尊敬的 MCE 客户您好，
请您选择所在区域，我们将转接对应客服为您服务！

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

热 A B C F G H J L N Q S T X Y Z