2. Gene
  3. RSRC1 - arginine and serine rich coiled-coil 1 Gene

RSRC1 - arginine and serine rich coiled-coil 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：富精氨酸和丝氨酸的卷曲螺旋 1

种属: Homo sapiens

同用名: MRT70; BM-011; SFRS21; SRrp53

基因 ID: 51319 | 基因类型: protein coding

关于 RSRC1

Cytogenetic location: 3q25.32 Genomic coordinates (GRCh38): 3:158,110,089-158,545,730 (from NCBI)

This gene has 29 transcripts (splice variants), 143 orthologues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 9.3), brain (RPKM 9.2) and 25 other tissues.

功能概要

该基因编码富含丝氨酸和精氨酸的相关蛋白家族成员。编码的蛋白质参与组成型和可变 mRNA 剪接。该基因可能与精神分裂症有关。该基因的假基因位于 9 号染色体上。可变剪接导致编码不同亚型的多个转录变体。[RefSeq 提供，2012 年 11 月]

This gene encodes a member of the serine and arginine rich-related protein family. The encoded protein is involved in both constitutive and alternative mRNA splicing. This gene may be associated with schizophrenia. A pseudogene of this gene is located on chromosome 9. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012]

RSRC1 基因产物(3)

mRNA Protein Name
NM_001271834.2 NP_001258763.1 serine/Arginine-related protein 53 isoform 2
NM_001271838.2 NP_001258767.1 serine/Arginine-related protein 53 isoform 1
NM_016625.4 NP_057709.2 serine/Arginine-related protein 53 isoform 1
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 protein binding IPI
IPI: 通过物理相互作用推断
15798186 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within RNA splicing IDA
IDA: 通过直接分析推断
15798186 GOA
involved in mRNA splicing, via spliceosome IDA
IDA: 通过直接分析推断
15798186 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
蛋白主名 其他名称

serine/Arginine-related protein 53

arginine/serine-rich coiled-coil 1

RSRC1 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
RSRC1 Q96IZ7 SRRM4 Homo sapiens A7MD48
Y2H Array
32296183
种属内
RSRC1 Q96IZ7 SRRM4 Homo sapiens A7MD48
Y2H Prey Pooling
32296183
种属内
RSRC1 Q96IZ7 SRPK2 Homo sapiens P78362
Protein Kinase Assay
23602568
种属内
RSRC1 Q96IZ7 JMJD6 Homo sapiens Q6NYC1
Anti Tag CoIP
33961781
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
Intellectual Developmental Disorder, Autosomal Recessive 70

MRT70

Mental Retardation, Autosomal Recessive 70

Autosomal Recessive Intellectual Developmental Disorder 70
Autosomal Recessive Non-Syndromic Intellectual Disability

Ar-Nsid

Ns-Arid
Unilateral Focal Polymicrogyria
Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS12310 RSRC1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta RSRC1 VGNC VGNC:84089
Bos taurus RSRC1 VGNC VGNC:53602
Felis catus RSRC1 VGNC VGNC:82503
Rattus norvegicus RSRC1 RGD RGD:1304968
Mus musculus RSRC1 MGD MGI:1914130
Canis familiaris RSRC1 VGNC VGNC:56103
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