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

Homo sapiens

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

Gene ID: 23162 | Gene type: protein coding

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

MAPK8IP3 Protein Structure

Jnk-SapK_ap_N

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08126	MAPK8IP3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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