SHARPIN - SHANK associated RH domain interactor Gene

Also Known as SIPL1

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 81858

About 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.

Summary

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 Products (1)

mRNA Protein Name
NM_030974.4 NP_112236.3 sharpin

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence 参考文献 由来
enables polyubiquitin modification-dependent protein binding IDA
IDA: Inferred from direct assay
21455173 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
21455173 GOA
Biological Process GO Annotation Evidence 参考文献 由来
involved in defense response to bacterium IDA
IDA: Inferred from direct assay
28481331 GOA
involved in positive regulation of canonical NF-kappaB signal transduction IDA
IDA: Inferred from direct assay
21455173 GOA
involved in protein linear polyubiquitination IDA
IDA: Inferred from direct assay
21455173 GOA
involved in regulation of CD40 signaling pathway IDA
IDA: Inferred from direct assay
21455173 GOA
involved in regulation of tumor necrosis factor-mediated signaling pathway IDA
IDA: Inferred from direct assay
21455173 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
part of LUBAC complex IDA
IDA: Inferred from direct assay
21455173 GOA
part of LUBAC complex IPI
IPI: Inferred from physical interaction
21455180 GOA
located in cytosol IDA
IDA: Inferred from direct assay
20179993 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

sharpin

  • hSIPL1

SHARPIN Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
SHARPIN Q9H0F6 MALT1 Homo sapiens Q9UDY8
Anti Bait CoIP
27070702
Intra
SHARPIN Q9H0F6 ITGA5 Homo sapiens P08648
FRET
21947080
Intra
SHARPIN Q9H0F6 RBCK1 Homo sapiens Q9BYM8
Anti Bait CoIP
21455180
Intra
SHARPIN Q9H0F6 RBCK1 Homo sapiens Q9BYM8
ViroTrap
30561431
Intra
SHARPIN Q9H0F6 RBCK1 Homo sapiens Q9BYM8
Anti Tag CoIP
21455180
Intra
SHARPIN Q9H0F6 RBCK1 Homo sapiens Q9BYM8
Anti Tag CoIP
21455181
Intra
SHARPIN Q9H0F6 RBCK1 Homo sapiens Q9BYM8
Anti Bait CoIP
23032186
Intra
SHARPIN Q9H0F6 ITGA2 Homo sapiens P17301
Anti Bait CoIP
21947080
Intra
SHARPIN Q9H0F6 IKBKG Homo sapiens Q9Y6K9
Anti Bait CoIP
21455180
Intra
SHARPIN Q9H0F6 IKBKG Homo sapiens Q9Y6K9
ViroTrap
30561431
Intra
SHARPIN Q9H0F6 IKBKG Homo sapiens Q9Y6K9
Anti Bait CoIP
23032186
Intra
SHARPIN Q9H0F6 RNF31 Homo sapiens Q96EP0
Anti Bait CoIP
21455180
Intra
SHARPIN Q9H0F6 RNF31 Homo sapiens Q96EP0
Anti Tag CoIP
21455180
Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases Alias
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
Diseases Alias
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-RS12853 SHARPIN Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS19284 Sharpin Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS25774 Sharpin Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 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
Others SHARPIN NCBI