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  2. NSRP1 - nuclear speckle splicing regulatory protein 1 Gene

NSRP1 - nuclear speckle splicing regulatory protein 1 Gene

中文名称:核斑点剪接调节蛋白 1

种属: Homo sapiens

同用名: CCDC55; NSrp70; HSPC095; NEDSSBA

基因 ID: 84081 | 基因类型: protein coding

关于 NSRP1

Cytogenetic location: 17q11.2 Genomic coordinates (GRCh38): 17:30,116,816-30,186,475 (from NCBI)

This gene has 17 transcripts (splice variants), 201 orthologues, 1 paralogue and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 8.3), thyroid (RPKM 8.1) and 25 other tissues.

功能概要

启用 mRNA 结合活性。通过剪接体参与发育过程和可变 mRNA 剪接的调节。位于核斑点。核糖核蛋白复合物的一部分。 [由基因组资源联盟提供,2022 年 4 月]

Enables mRNA binding activity. Involved in developmental process and regulation of alternative mRNA splicing, via spliceosome. Located in nuclear speck. Part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Apr 2022]

NSRP1 基因产物(2)

mRNA Protein Name
NM_001261467.2 NP_001248396.1 nuclear speckle splicing regulatory protein 1 isoform 2
NM_032141.4 NP_115517.1 nuclear speckle splicing regulatory protein 1 isoform 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables mRNA binding IDA
IDA: 通过直接分析推断
21296756 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21296756 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in developmental process IMP
IMP: 通过突变表型推断
21296756 GOA
involved in regulation of alternative mRNA splicing, via spliceosome IDA
IDA: 通过直接分析推断
21296756 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nuclear speck IDA
IDA: 通过直接分析推断
21296756 GOA
located in nucleus IDA
IDA: 通过直接分析推断
21296756 GOA
part of ribonucleoprotein complex IDA
IDA: 通过直接分析推断
21296756 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

NSRP1 蛋白结构

DUF2040

DUF2040: Coiled-coil domain-containing protein 55 (DUF2040) (57 - 180)

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  • 558 a.a.
蛋白主名 其他名称

nuclear speckle splicing regulatory protein 1

coiled-coil domain containing 55

关联疾病

疾病名称 别名
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities

NEDSSBA

Spasticity
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Cerebral Palsy

Infantile Cerebral Palsy

Mixed Cerebral Palsy

Palsy Cerebral

Palsy, Cerebral

Cerebral Palsy, Mixed

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 NSRP1 VGNC VGNC:99310
Canis familiaris NSRP1 VGNC VGNC:43989
Rattus norvegicus NSRP1 RGD RGD:1309863
Bos taurus NSRP1 VGNC VGNC:32284
Macaca mulatta NSRP1 VGNC VGNC:97797
Mus musculus NSRP1 MGD MGI:2144305