1. Gene
  2. CCZ1 - CCZ1 homolog, vacuolar protein trafficking and biogenesis associated Gene

CCZ1 - CCZ1 homolog, vacuolar protein trafficking and biogenesis associated Gene

中文名称:CCZ1 同系物、液泡蛋白运输和生物发生相关

种属: Homo sapiens

同用名: CCZ1A; CGI-43; C7orf28A; H_DJ1163J12.2

基因 ID: 51622 | 基因类型: protein coding

关于 CCZ1

This gene has 7 transcripts (splice variants), 210 orthologues and 1 paralogue. Ubiquitous expression in adrenal (RPKM 39.9), urinary bladder (RPKM 31.0) and 25 other tissues.

功能概要

启用胍基核苷酸交换因子活性。预计参与囊泡介导的运输。位于细胞内膜界的细胞器中。 Mon1-Ccz1 复合体的一部分。 [由基因组资源联盟提供,2022 年 4 月]

Enables guanyl-nucleotide exchange factor activity. Predicted to be involved in vesicle-mediated transport. Located in intracellular membrane-bounded organelle. Part of Mon1-Ccz1 complex. [provided by Alliance of Genome Resources, Apr 2022]

CCZ1 基因产物(1)

mRNA Protein Name
NM_015622.6 NP_056437.4 vacuolar fusion protein CCZ1 homolog
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 guanyl-nucleotide exchange factor activity IDA
IDA: 通过直接分析推断
23084991 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
23084991 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of Mon1-Ccz1 complex IDA
IDA: 通过直接分析推断
29038162 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

CCZ1 蛋白结构

DUF1712

DUF1712: Fungal domain of unknown function (DUF1712) (27 - 413)

DUF1712

DUF1712: Fungal domain of unknown function (DUF1712) (402 - 479)

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

vacuolar fusion protein CCZ1 homolog

CCZ1 vacuolar protein trafficking and biogenesis associated homolog

关联疾病

疾病名称 别名
Hermansky-Pudlak Syndrome

Hps

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Hermanski-Pudlak Syndrome

Hermansky Pudlak Syndrome

Platelet Storage Pool Deficiency

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
Mus musculus CCZ1 MGD MGI:2141070