1. Gene
  2. TBC1D8 - TBC1 domain family member 8 Gene

TBC1D8 - TBC1 domain family member 8 Gene

中文名称:TBC1 域家族成员 8

种属: Homo sapiens

同用名: AD3; VRP; HBLP1; GRAMD8; TBC1D8A

基因 ID: 11138 | 基因类型: protein coding

关于 TBC1D8

This gene has 10 transcripts (splice variants), 197 orthologues and 45 paralogues. Ubiquitous expression in testis (RPKM 11.3), heart (RPKM 10.6) and 25 other tissues.

功能概要

预测启用 GTPase 激活剂活动。预计参与 GTPase 活性的激活和细胞内蛋白质转运。预测位于膜中。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable GTPase activator activity. Predicted to be involved in activation of GTPase activity and intracellular protein transport. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Apr 2022]

TBC1D8 基因产物(2)

mRNA Protein Name
NM_001102426.3 NP_001095896.1 TBC1 domain family member 8 isoform 2
NM_001330348.2 NP_001317277.1 TBC1 domain family member 8 isoform 1

TBC1D8 蛋白结构

GRAM

GRAM: GRAM domain (146 - 211)

GRAM

GRAM: GRAM domain (286 - 352)

RabGAP-TBC

RabGAP-TBC: Rab-GTPase-TBC domain (509 - 711)

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  • 1140 a.a.
蛋白主名 其他名称

TBC1 domain family member 8

BUB2-like protein 1

关联疾病

疾病名称 别名
Autosomal Dominant Nonsyndromic Deafness 78

Dfna78

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
Felis catus TBC1D8 VGNC VGNC:65989
Canis familiaris TBC1D8 VGNC VGNC:47151
Bos taurus TBC1D8 VGNC VGNC:35645
Macaca mulatta TBC1D8 VGNC VGNC:78153
Rattus norvegicus TBC1D8 RGD RGD:1595491
Mus musculus TBC1D8 MGD MGI:1927225