1. Gene
  2. ASZ1 - ankyrin repeat, SAM and basic leucine zipper domain containing 1 Gene

ASZ1 - ankyrin repeat, SAM and basic leucine zipper domain containing 1 Gene

中文名称:含锚蛋白重复、SAM 和基本亮氨酸拉链结构域, 1

种属: Homo sapiens

同用名: ALP1; GASZ; Orf3; ANKL1; C7orf7; CT1.19

基因 ID: 136991 | 基因类型: protein coding

关于 ASZ1

Cytogenetic location: 7q31.2 Genomic coordinates (GRCh38): 7:117,363,222-117,427,493 (from NCBI)

This gene has 6 transcripts (splice variants), 201 orthologues and 1 paralogue. Restricted expression toward testis (RPKM 8.9).

功能概要

预计参与配子生成和 piRNA 代谢过程。预计位于细胞质中。预测活跃于 pi-body。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to be involved in gamete generation and piRNA metabolic process. Predicted to be located in cytoplasm. Predicted to be active in pi-body. [provided by Alliance of Genome Resources, Apr 2022]

ASZ1 基因产物(3)

mRNA Protein Name
NM_001301821.2 NP_001288750.1 ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1 isoform 2
NM_001301822.2 NP_001288751.1 ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1 isoform 3
NM_130768.3 NP_570124.1 ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1 isoform 1
基因本体论
  • 分子功能
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
32296183 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

ASZ1 蛋白结构

Ank_2

Ank_2: Ankyrin repeats (3 copies) (53 - 106)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (128 - 210)

SAM_2

SAM_2: SAM domain (Sterile alpha motif) (273 - 334)

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

ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1

ankyrin-like 1

ASZ1 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 ASZ1 Q8WWH4 DEFB127 Homo sapiens Q9H1M4
Validated Y2H
32296183
Intra ASZ1 Q8WWH4 LPAR3 Homo sapiens Q9UBY5
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
Hepatitis E
Noonan Syndrome 7

NS7

Noonan Syndrome, Type 7

Acute Diarrhea
Noonan Syndrome 12

NS12

Amelogenesis Imperfecta, Type If

Amelogenesis Imperfecta Type 1f

AI1F

Amelogenesis Imperfecta, Hypoplastic Type If

Amelogenesis Imperfecta Type If

Amelogenesis Imperfecta Hypoplastic Type If

Amelogenesis Imperfecta 1f

Erythema Infectiosum

Fifth Disease

Slapped Cheek Syndrome

Parvovirus B19 Infection

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 ASZ1 VGNC VGNC:70058
Mus musculus ASZ1 MGD MGI:1921318
Felis catus ASZ1 VGNC VGNC:59987
Canis familiaris ASZ1 VGNC VGNC:38199
Bos taurus ASZ1 VGNC VGNC:26231
Rattus norvegicus ASZ1 RGD RGD:621579