1. Gene
  2. XRN1 - 5'-3' exoribonuclease 1 Gene

XRN1 - 5'-3' exoribonuclease 1 Gene

中文名称:5'-3' 核糖核酸外切酶 1

种属: Homo sapiens

同用名: SEP1

基因 ID: 54464 | 基因类型: protein coding

关于 XRN1

Cytogenetic location: 3q23 Genomic coordinates (GRCh38): 3:142,306,610-142,448,037 (from NCBI)

This gene has 14 transcripts (splice variants), 218 orthologues and 1 paralogue. Ubiquitous expression in appendix (RPKM 6.9), lymph node (RPKM 6.5) and 25 other tissues.

功能概要

该基因编码 5'-3' 核酸外切酶家族的成员。编码的蛋白质可能参与复制依赖性组蛋白 mRNA 降解,并直接与 mRNA 脱帽蛋白 4 的增强子相互作用。除了 mRNA 代谢外,酵母中的一种类似蛋白质还涉及多种核和细胞质功能,包括同源重组、减数分裂、端粒维持和微管组装。该基因的突变与骨肉瘤有关,表明编码的蛋白质也可能在骨形成中发挥作用。可变剪接导致多个转录本变体。[RefSeq 提供,2013 年 9 月]

This gene encodes a member of the 5'-3' exonuclease family. The encoded protein may be involved in replication-dependent histone mRNA degradation, and interacts directly with the enhancer of mRNA-decapping protein 4. In addition to mRNA metabolism, a similar protein in yeast has been implicated in a variety of nuclear and cytoplasmic functions, including homologous recombination, meiosis, telomere maintenance, and microtubule assembly. Mutations in this gene are associated with osteosarcoma, suggesting that the encoded protein may also play a role in bone formation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

XRN1 基因产物(3)

mRNA Protein Name
NM_001282857.2 NP_001269786.1 5'-3' exoribonuclease 1 isoform c
NM_001282859.2 NP_001269788.1 5'-3' exoribonuclease 1 isoform d
NM_019001.5 NP_061874.3 5'-3' exoribonuclease 1 isoform a
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables 5'-3' RNA exonuclease activity IMP
IMP: 通过突变表型推断
26950371 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
15687258 GOA
enables telomerase RNA binding IPI
IPI: 通过物理相互作用推断
26950371 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in histone mRNA catabolic process IMP
IMP: 通过突变表型推断
18172165 GOA
involved in nuclear mRNA surveillance IMP
IMP: 通过突变表型推断
17545563 GOA
involved in nuclear-transcribed mRNA catabolic process IMP
IMP: 通过突变表型推断
17545563 GOA
involved in rRNA catabolic process IMP
IMP: 通过突变表型推断
20368444 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

XRN1 蛋白结构

XRN_N

XRN_N: XRN 5'-3' exonuclease N-terminus (1 - 228)

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  • 1706 a.a.
蛋白主名 其他名称

5'-3' exoribonuclease 1

strand-exchange protein 1 homolog

XRN1 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
种属内
XRN1 Q8IZH2 EDC4 Homo sapiens Q6P2E9 24510189
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
Murray Valley Encephalitis

Australian Encephalitis

Australian X Disease

Encephalitis Australia

Murray River Encephalitis

Australian Arboencephalitis

Australian X Disorder

Mve - [Murray Valley Encephalitis]

Osteogenic Sarcoma

Osteosarcoma

OSRC

Osteosarcoma, Somatic

Neoplasms, Bone Tissue

Bone Tissue Neoplasm

Osteoid Sarcoma

Skeletal Sarcoma

Osteosarcoma Of Bone

Bone Sarcoma

Sarcoma

Connective And Soft Tissue Neoplasm

Tumor Of Soft Tissue And Skeleton

Sarcomas

Sarcoma - Category

Autosomal Recessive Nonsyndromic Deafness 32

Deafness, Autosomal Recessive 32

Autosomal Recessive Deafness 105

Autosomal Recessive Deafness 32

Dfnb32

Hearing Impairment Infertile Male Syndrome

Hiims

Deafness, Autosomal Recessive, Type 32

Alkhurma Hemorrhagic Fever

Alkhumra Haemorrhagic Fever

Zika Fever

Zika Virus Infection

Zika Virus Disease

Zika Virus

Zika Virus Fever

Mosquito-Borne Viral Fever, Zika

Perlman Syndrome

Nephroblastomatosis, Fetal Ascites, Macrosomia And Wilms Tumor

PRLMNS

Renal Hamartomas, Nephroblastomatosis, And Fetal Gigantism

Nephroblastomatosis Fetal Ascites Macrosomia And Wilms Tumor

Nephroblastomatosis, Fetal Ascites, Macrosomia, And Wilms Tumor

Nephroblastomatosis - Fetal Ascites - Macrosomia - Wilms Tumor

Renal Hamartomas, Nephroblastomatosis And Fetal Gigantism

Nephroblastomatosis-Fetal Ascites-Macrosomia-Wilms Tumor Syndrome

Renal Hamartomas Nephroblastomatosis And Fetal Gigantism

Nephroblastoma

Fetal Macrosomia

Kyasanur Forest Disease

Kfd

Monkey Fever

Kfd Virus

Kyasanur Hemorrhagic Fever

Monkey Disease

Monkey Diseases

Kfd - [ Kyasanur Forest Disease]

Monkey Sickness

Hemophagocytic Lymphohistiocytosis, Familial, 2

Familial Hemophagocytic Lymphohistiocytosis 2

FHL2

Hplh2

Hlh2

Hemophagocytic Lymphohistiocytosis, Familial, 2, Susceptibility To

Lymphohistiocytosis, Hemophagocytic, Familial, Type 2

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 XRN1 MGD MGI:891964
Canis familiaris XRN1 VGNC VGNC:48471
Bos taurus XRN1 VGNC VGNC:37008
Rattus norvegicus XRN1 RGD RGD:1309713
Felis catus XRN1 VGNC VGNC:67122
Macaca mulatta XRN1 VGNC VGNC:79862