MAPK8IP3 - mitogen-activated protein kinase 8 interacting protein 3 Gene

Also Known as syd; JIP3; SYD2; JIP-3; JSAP1; NEDBA

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23162

About MAPK8IP3

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:1,706,195-1,770,351 (from NCBI)

This gene has 19 transcripts (splice variants), 210 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 22.4), spleen (RPKM 12.7) and 24 other tissues.

Summary

The protein encoded by this gene shares similarity with the product of Drosophila syd gene, required for the functional interaction of Kinesin I with axonal cargo. Studies of the similar gene in mouse suggested that this protein may interact with, and regulate the activity of numerous protein kinases of the JNK signaling pathway, and thus function as a scaffold protein in neuronal cells. The C. elegans counterpart of this gene is found to regulate synaptic vesicle transport possibly by integrating JNK signaling and kinesin-1 transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

MAPK8IP3 Products (3)

mRNA Protein Name
NM_001040439.2 NP_001035529.1 C-Jun-amino-terminal kinase-interacting protein 3 isoform 2
NM_001318852.2 NP_001305781.1 C-Jun-amino-terminal kinase-interacting protein 3 isoform 3
NM_015133.5 NP_055948.2 C-Jun-amino-terminal kinase-interacting protein 3 isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
27107012 GOA
Biological Process GO Annotation Evidence References Source
involved in negative regulation of apoptotic process IMP
IMP: Inferred from mutant phenotype
33022230 GOA
involved in protein stabilization IMP
IMP: Inferred from mutant phenotype
33022230 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

MAPK8IP3 Protein Structure

Jnk-SapK_ap_N

Jnk-SapK_ap_N: JNK_SAPK-associated protein-1 (29 - 186)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1336 a.a.
Protein Preferred Names Protein Names

C-Jun-amino-terminal kinase-interacting protein 3

  • C-jun-amino-terminal kinase interacting protein 3

MAPK8IP3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
MAPK8IP3 Q9UPT6 LDLRAP1 Homo sapiens Q5SW96
Validated Y2H
27107012
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities

  • NEDBA

  • Neurodevelopmental Disorder With/Without Variable Brain Abnormalities
Non-Specific Syndromic Intellectual Disability

  • Complex Neurodevelopmental Disorder
Hemophagocytic Lymphohistiocytosis, Familial, 1

  • Familial Hemophagocytic Lymphohistiocytosis

  • Fhl

  • Familial Erythrophagocytic Lymphohistiocytosis

  • Hemophagocytic Syndrome

  • FHL1

  • Hplh1

  • Hlh1

  • Fel

  • Familial Hemophagocytic Lymphohistiocytosis 1

  • Primary Hemophagocytic Lymphohistiocytosis

  • Familial Hlh

  • Hlh

  • Familial Hemophagocytic Lymphocytosis

  • Hemophagocytic Lymphohistiocytosis, Familial

  • Reticulosis, Familial Histiocytic

  • Hemophagocytic Reticulosis, Familial

  • Erythrophagocytic Lymphohistiocytosis, Familial

  • Familial Histiocytic Reticulosis

  • Familial Hemophagocytic Histiocytosis

  • Familial Hemophagocytic Reticulosis

  • Fhlh

  • Hplh

  • Primary Hemophagocytic Hymphohistiocytosis

  • Genetic Hemophagocytic Lymphohistiocytosis

  • Hemophagocytic Lymphohistiocytosis

  • Familial Hemophagocytic Lymphohistiocytosis Type 1
Polymicrogyria

  • Pmg
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 (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS08126 MAPK8IP3 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus MAPK8IP3 MGD MGI:1353598
Macaca mulatta MAPK8IP3 VGNC VGNC:74651
Canis familiaris MAPK8IP3 VGNC VGNC:43003
Felis catus MAPK8IP3 VGNC VGNC:68173
Rattus norvegicus MAPK8IP3 RGD RGD:1563691
Bos taurus MAPK8IP3 VGNC VGNC:31226
Others MAPK8IP3 NCBI