1. Gene
  2. MAEL - maelstrom spermatogenic transposon silencer Gene

MAEL - maelstrom spermatogenic transposon silencer Gene

中文名称:Maelstrom 生精转座子消音器

种属: Homo sapiens

同用名: CT128; SPATA35

基因 ID: 84944 | 基因类型: protein coding

关于 MAEL

Cytogenetic location: 1q24.1 Genomic coordinates (GRCh38): 1:166,975,582-167,022,214 (from NCBI)

This gene has 6 transcripts (splice variants) and 130 orthologues. Restricted expression toward testis (RPKM 61.7).

功能概要

预测可实现序列特异性 DNA 结合活性。预计参与配子生成;大分子代谢过程的负调控;和 piRNA 代谢过程。预计在几个过程的上游或内部起作用,包括减数分裂时的同源染色体配对;响应 DNA 损伤的内在凋亡信号通路;和大分子代谢过程的负调控。预测位于 piP-body。预测在 P 颗粒和细胞核中有活性。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable sequence-specific DNA binding activity. Predicted to be involved in gamete generation; negative regulation of macromolecule metabolic process; and piRNA metabolic process. Predicted to act upstream of or within several processes, including homologous chromosome pairing at meiosis; intrinsic apoptotic signaling pathway in response to DNA damage; and negative regulation of macromolecule metabolic process. Predicted to be located in piP-body. Predicted to be active in P granule and nucleus. [provided by Alliance of Genome Resources, Apr 2022]

MAEL 基因产物(3)

mRNA Protein Name
NM_001286377.2 NP_001273306.1 protein maelstrom homolog isoform 2
NM_001286378.2 NP_001273307.1 protein maelstrom homolog isoform 3
NM_032858.3 NP_116247.1 protein maelstrom homolog isoform 1

MAEL 蛋白结构

HMG_box_2

HMG_box_2: HMG-box domain (2 - 70)

Maelstrom

Maelstrom: piRNA pathway germ-plasm component (130 - 326)

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  • 434 a.a.
蛋白主名 其他名称

protein maelstrom homolog

cancer/testis antigen 128

关联疾病

疾病名称 别名
Astigmatism
Spermatogenic Failure

Azoospermia

Spgf

Spermatogenic Failure, Susceptibility To

Absent Sperm

Aspermatogenesis

Infertility Due To Azoospermia

Hypospermatogenesis

Azoospermatism

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 MAEL VGNC VGNC:63362
Mus musculus MAEL MGD MGI:2138453
Bos taurus MAEL VGNC VGNC:31136
Macaca mulatta MAEL VGNC VGNC:74362
Rattus norvegicus MAEL RGD RGD:1309333
Canis familiaris MAEL VGNC VGNC:42919