1. Gene
  2. GNL1 - G protein nucleolar 1 (putative) Gene

GNL1 - G protein nucleolar 1 (putative) Gene

中文名称:G 蛋白核仁 1 (假定)

种属: Homo sapiens

同用名: HSR1

基因 ID: 2794 | 基因类型: protein coding

关于 GNL1

Cytogenetic location: 6p21.33 Genomic coordinates (GRCh38): 6:30,541,381-30,556,489 (from NCBI)

This gene has 5 transcripts (splice variants), 1 gene allele, 194 orthologues and 6 paralogues. Ubiquitous expression in brain (RPKM 17.9), testis (RPKM 13.8) and 25 other tissues.

功能概要

在人类主要组织相容性复合体 I 类区域中鉴定的 GNL1 基因与其小鼠对应物显示出高度相似性。 GNL1 基因以相同的转录方向位于 HLA-E 着丝粒不到 2 kb 的位置。 GNL1 是 HLA-B 和 HLA-C 的端粒。[RefSeq 提供,2008 年 7 月]

The GNL1 gene, identified in the human major histocompatibility complex class I region, shows a high degree of similarity with its mouse counterpart. The GNL1 gene is located less than 2 kb centromeric to HLA-E, in the same transcriptional orientation. GNL1 is telomeric to HLA-B and HLA-C. [provided by RefSeq, Jul 2008]

GNL1 基因产物(1)

mRNA Protein Name
NM_005275.5 NP_005266.2 guanine nucleotide-binding protein-like 1
基因本体论
  • 生物过程
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA damage response IDA
IDA: 通过直接分析推断
17525332 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

GNL1 蛋白结构

MMR_HSR1

MMR_HSR1: 50S ribosome-binding GTPase (363 - 418)

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  • 607 a.a.
蛋白主名 其他名称

guanine nucleotide-binding protein-like 1

GTP-binding protein HSR1

关联疾病

疾病名称 别名
Multiple Benign Circumferential Skin Creases On Limbs

Ccsf

Circumferential Skin Creases, Kunze Type

Congenital Circumferential Skin Folds

Kunze-Riehm Syndrome

Kunze Riehm Syndrome

Michelin Tire Baby Syndrome

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 GNL1 MGD MGI:95764
Felis catus GNL1 VGNC VGNC:102431
Macaca mulatta GNL1 VGNC VGNC:104402
Rattus norvegicus GNL1 RGD RGD:1303051
Bos taurus GNL1 VGNC VGNC:57319