ROBLD3 Products

Description

The product of this gene is highly conserved with a mouse protein associated with the cytoplasmic face of late endosomes and lysosomes. The mouse protein interacts with MAPK scaffold protein 1, a component of the mitogen-activated protein kinase pathway. In humans, a mutation in this gene has been associated with a primary immunodeficiency syndrome, and suggests a role for this protein in endosomal biogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq]. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.

Bioinformatics

Entrez	28956 Human 56692 Mouse
Uniprot	NM_014017 Human NP_054736 Human O88653 Mouse Q9Y2Q5 Human
Product By Gene ID	28956
Alternate Names	ENDAP Endosomal adaptor protein p14 HSPC003 Late endosomal/lysosomal adaptor and MAPK and MTOR activator 2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 Late endosomal/lysosomal Mp1-interacting protein MAPBPIPRoadblock domain-containing protein 3 MAPKSP1 adaptor protein MAPKSP1AP mitogen-activated protein-binding protein-interacting protein (MAPBPIP) Mitogen-activated protein-binding protein-interacting protein p14Ragulator2 roadblock domain containing 3 ROBLD3

Research Areas for ROBLD3

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Cancer