1. Gene
  2. SPRING1 - SREBF pathway regulator in golgi 1 Gene

SPRING1 - SREBF pathway regulator in golgi 1 Gene

中文名称:高尔基体 1 中的 SREBF 通路调节器

种属: Homo sapiens

同用名: LUR1; POST1; SPRING; C12orf49

基因 ID: 79794 | 基因类型: protein coding

关于 SPRING1

This gene has 4 transcripts (splice variants) and 204 orthologues. Broad expression in thyroid (RPKM 43.0), lung (RPKM 18.5) and 21 other tissues.

功能概要

参与 SREBP 信号通路的正向调控。位于高尔基体膜。 [由基因组资源联盟提供,2022 年 4 月]

Involved in positive regulation of SREBP signaling pathway. Located in Golgi membrane. [provided by Alliance of Genome Resources, Apr 2022]

SPRING1 基因产物(4)

mRNA Protein Name
NM_001353623.2 NP_001340552.1 SREBP regulating gene protein isoform 2
NM_001353624.2 NP_001340553.1 SREBP regulating gene protein isoform 3
NM_001353625.2 NP_001340554.1 SREBP regulating gene protein isoform 4
NM_024738.4 NP_079014.1 SREBP regulating gene protein 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 protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of SREBP signaling pathway IMP
IMP: 通过突变表型推断
32111832 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi membrane IDA
IDA: 通过直接分析推断
32111832 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

SPRING1 蛋白结构

DUF2054

DUF2054: Uncharacterized conserved protein (DUF2054) (68 - 195)

  • 0
  • 100
  • 205 a.a.
蛋白主名 其他名称

SREBP regulating gene protein

UPF0454 protein C12orf49

SPRING1 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
Intra SPRING1 Q9H741 TRIM54 Homo sapiens Q9BYV2
Validated Y2H
25416956
Intra SPRING1 Q9H741 KRT31 Homo sapiens Q15323
Y2H Prey Pooling
25416956
Intra SPRING1 Q9H741 KRT31 Homo sapiens Q15323
Validated Y2H
25416956
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
Ritscher-Schinzel Syndrome 1

3c Syndrome

Craniocerebellocardiac Dysplasia

RTSC1

Dandy-Walker-Like Malformation With Atrioventricular Septal Defect

Dandy-Walker Like Malformation With Atrioventricular Septal Defect

Cranio-Cerebello-Cardiac Dysplasia

Dandy-Walker-Like Malformation With Asd

Ritscher Schinzel Syndrome

Ritscher-Schinzel Cranio-Cerebello-Cardiac Syndrome

Ritscher-Schinzel Syndrome

3c

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
Macaca mulatta SPRING1 VGNC VGNC:70394
Felis catus SPRING1 VGNC VGNC:60619
Mus musculus SPRING1 MGD MGI:1924042
Bos taurus SPRING1 VGNC VGNC:52645
Rattus norvegicus SPRING1 RGD RGD:1562310