1. Gene
  2. SHARPIN - SHANK associated RH domain interactor Gene

SHARPIN - SHANK associated RH domain interactor Gene

中文名称:SHANK 关联的 RH 域交互器

种属: Homo sapiens

同用名: SIPL1

基因 ID: 81858 | 基因类型: protein coding

关于 SHARPIN

Cytogenetic location: 8q24.3 Genomic coordinates (GRCh38): 8:144,098,637-144,103,773 (from NCBI)

This gene has 10 transcripts (splice variants), 321 orthologues and 2 paralogues. Broad expression in testis (RPKM 39.8), fat (RPKM 13.6) and 25 other tissues.

功能概要

启用多聚泛素修饰依赖性蛋白结合活性。参与蛋白质线性多泛素化和信号转导的调节。位于胞质溶胶中。 LUBAC 复合体的一部分。 [由基因组资源联盟提供,2022 年 4 月]

Enables polyubiquitin modification-dependent protein binding activity. Involved in protein linear polyubiquitination and regulation of signal transduction. Located in cytosol. Part of LUBAC complex. [provided by Alliance of Genome Resources, Apr 2022]

SHARPIN 基因产物(1)

mRNA Protein Name
NM_030974.4 NP_112236.3 sharpin
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 polyubiquitin modification-dependent protein binding IDA
IDA: 通过直接分析推断
21455173 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21455173 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in defense response to bacterium IDA
IDA: 通过直接分析推断
28481331 GOA
involved in positive regulation of canonical NF-kappaB signal transduction IDA
IDA: 通过直接分析推断
21455173 GOA
involved in protein linear polyubiquitination IDA
IDA: 通过直接分析推断
21455173 GOA
involved in regulation of CD40 signaling pathway IDA
IDA: 通过直接分析推断
21455173 GOA
involved in regulation of tumor necrosis factor-mediated signaling pathway IDA
IDA: 通过直接分析推断
21455173 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of LUBAC complex IDA
IDA: 通过直接分析推断
21455173 GOA
part of LUBAC complex IPI
IPI: 通过物理相互作用推断
21455180 GOA
located in cytosol IDA
IDA: 通过直接分析推断
20179993 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

sharpin

hSIPL1

SHARPIN 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
SHARPIN Q9H0F6 MALT1 Homo sapiens Q9UDY8
Anti Bait CoIP
27070702
种属内
SHARPIN Q9H0F6 ITGA5 Homo sapiens P08648
FRET
21947080
种属内
SHARPIN Q9H0F6 RBCK1 Homo sapiens Q9BYM8
Anti Bait CoIP
21455180
种属内
SHARPIN Q9H0F6 RBCK1 Homo sapiens Q9BYM8
ViroTrap
30561431
种属内
SHARPIN Q9H0F6 RBCK1 Homo sapiens Q9BYM8
Anti Tag CoIP
21455180
种属内
SHARPIN Q9H0F6 RBCK1 Homo sapiens Q9BYM8
Anti Tag CoIP
21455181
种属内
SHARPIN Q9H0F6 RBCK1 Homo sapiens Q9BYM8
Anti Bait CoIP
23032186
种属内
SHARPIN Q9H0F6 ITGA2 Homo sapiens P17301
Anti Bait CoIP
21947080
种属内
SHARPIN Q9H0F6 IKBKG Homo sapiens Q9Y6K9
Anti Bait CoIP
21455180
种属内
SHARPIN Q9H0F6 IKBKG Homo sapiens Q9Y6K9
ViroTrap
30561431
种属内
SHARPIN Q9H0F6 IKBKG Homo sapiens Q9Y6K9
Anti Bait CoIP
23032186
种属内
SHARPIN Q9H0F6 RNF31 Homo sapiens Q96EP0
Anti Bait CoIP
21455180
种属内
SHARPIN Q9H0F6 RNF31 Homo sapiens Q96EP0
Anti Tag CoIP
21455180
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
Incontinentia Pigmenti

Bloch-Sulzberger Syndrome

IP

Incontinentia Pigmenti, Familial Male-Lethal Type

Incontinentia Pigmenti Syndrome

Bloch-Siemens Syndrome

Ip2

Incontinentia Pigmenti, Type Ii, Formerly

Ip2, Formerly

Incontinentia Pigmenti Type 2

Bloch-Siemens-Sulzberger Syndrome

Familial Incontinentia Pigmenti Male-Lethal Type

Familial Incontinentia Pigmenti Type Ii

Incontinentia Pigmenti, Type Ii

Bloch Sulzberger Syndrome

Incontinentia Pigmenti Achromians

Incontinentia Pigmenti Of Bloch-Sulzberger

Nevus Pigmentosus Systematicus

Autoinflammation, Panniculitis, And Dermatosis Syndrome

Otulipenia

Otulin-Related Autoinflammatory Syndrome

AIPDS

Oras

Infantile-Onset Periodic Fever-Panniculitis-Dermatosis Syndrome

Autoinflammation, Panniculitis And Dermatosis Syndrome

Otulin Deficiency

Clear Cell Adenoma
Glycogen Storage Disease Iv

Gsd Iv

Glycogen Branching Enzyme Deficiency

Andersen Disease

Amylopectinosis

Glycogen Storage Disease Type Iv

GSD4

Brancher Deficiency

Glycogen Storage Disease, Type Iv

Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form

Gbe1 Deficiency

Glycogenosis Iv

Cirrhosis, Familial, With Deposition Of Abnormal Glycogen

Glycogen Storage Disease Type 4

Glycogenosis 4

Potassium-Sensitive Periodic Paralysis, Ventricular Ectopy, And Dysmorphic Features

Andersen'S Disease

Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form

Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form

Brancher Deficiency Glycogenosis

Branching-Transferase Deficiency Glycogenosis

Deficiency Of 1,4-Alpha-Glucan Branching Enzyme

Andersen-Tawil Syndrome

Gsd 4

Andersen Cardiodysrhythmic Periodic Paralysis

Lqt7

Long Qt Syndrome 7

Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type

Andersen Glycogenosis

Branching Enzyme Deficiency

Glycogenosis, Type Iv

Gsd Type Iv

Type Iv Glycogenosis

Gbe Deficiency, Childhood Neuromuscular Form

Gsd Due To Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form

Gsd Type 4, Childhood Neuromuscular Form

Gsdiv, Childhood Neuromuscular Form

Glycogen Storage Disease Type 4, Childhood Neuromuscular Form

Glycogen Storage Disease Type Iv, Childhood Neuromuscular Form

Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form

Glycogenosis Type 4, Childhood Neuromuscular Form

Glycogenosis Type Iv, Childhood Neuromuscular Form

Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form

Gbe Deficiency, Adult Neuromuscular Form

Gsd Due To Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form

Gsd Type 4, Adult Neuromuscular Form

Gsdiv, Adult Neuromuscular Form

Glycogen Storage Disease Type 4, Adult Neuromuscular Form

Glycogen Storage Disease Type Iv, Adult Neuromuscular Form

Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form

Glycogenosis Type 4, Adult Neuromuscular Form

Glycogenosis Type Iv, Adult Neuromuscular Form

Gbe Deficiency, Congenital Neuromuscular Form

Gsd Due To Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form

Gsd Type 4, Congenital Neuromuscular Form

Gsdiv, Congenital Neuromuscular Form

Glycogen Storage Disease Type 4, Congenital Neuromuscular Form

Glycogen Storage Disease Type Iv, Congenital Neuromuscular Form

Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form

Glycogenosis Type 4, Congenital Neuromuscular Form

Glycogenosis Type Iv, Congenital Neuromuscular Form

Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic And Myopathic Form

Gbe Deficiency, Childhood Combined Hepatic And Myopathic Form

Gsd Due To Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic And Myopathic Form

Gsd Type 4, Childhood Combined Hepatic And Myopathic Form

Gsdiv, Childhood Combined Hepatic And Myopathic Form

Glycogen Storage Disease Type 4, Childhood Combined Hepatic And Myopathic Form

Glycogen Storage Disease Type Iv, Childhood Combined Hepatic And Myopathic Form

Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic And Myopathic Form

Glycogenosis Type 4, Childhood Combined Hepatic And Myopathic Form

Glycogenosis Type Iv, Childhood Combined Hepatic And Myopathic Form

Gbe Deficiency, Fatal Perinatal Neuromuscular Form

Gsd Due To Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form

Gsd Type 4, Fatal Perinatal Neuromuscular Form

Gsdiv, Fatal Perinatal Neuromuscular Form

Glycogen Storage Disease Type 4, Fatal Perinatal Neuromuscular Form

Glycogen Storage Disease Type Iv, Fatal Perinatal Neuromuscular Form

Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form

Glycogenosis Type 4, Fatal Perinatal Neuromuscular Form

Glycogenosis Type Iv, Fatal Perinatal Neuromuscular Form

Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form

Gbe Deficiency, Non Progressive Hepatic Form

Gsd Due To Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form

Gsd Type 4, Non Progressive Hepatic Form

Gsdiv, Non Progressive Hepatic Form

Glycogen Storage Disease Type 4, Non Progressive Hepatic Form

Glycogen Storage Disease Type Iv, Non Progressive Hepatic Form

Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form

Glycogenosis Type 4, Non Progressive Hepatic Form

Glycogenosis Type Iv, Non Progressive Hepatic Form

Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form

Gbe Deficiency, Progressive Hepatic Form

Gsd Due To Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form

Gsd Type 4, Progressive Hepatic Form

Gsdiv, Progressive Hepatic Form

Glycogen Storage Disease Type 4, Progressive Hepatic Form

Glycogen Storage Disease Type Iv, Progressive Hepatic Form

Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form

Glycogenosis Type 4, Progressive Hepatic Form

Glycogenosis Type Iv, Progressive Hepatic Form

Glycogen Storage Disease 4

Gsd-Iv

Storage Disease, Glycogen, Type Iv

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
Canis familiaris SHARPIN VGNC VGNC:49813
Bos taurus SHARPIN VGNC VGNC:34587
Rattus norvegicus SHARPIN RGD RGD:631353
Felis catus SHARPIN VGNC VGNC:81697
Mus musculus SHARPIN MGD MGI:1913331
Macaca mulatta SHARPIN VGNC VGNC:84114