UniProt Protein Function: | MTMR13: a widely expressed pseudophosphatase and peripheral membrane guanine nucleotide exchange factor (GEF) that activates RAB28, a small G protein of the Rab subfamily. Promotes Rab21 GTPase activation associated with PI(3)P endosomes. Coordinates PIP3 and Rab21 regulation in an endosomal pathway. Functions together with Mtm and Rab21, along with Rab11-mediated endosomal trafficking, to control macrophage protrusion formation and to promote turnover of a PI(3)P subpool essential for endosomal trafficking. Interacts with MTMR2. Defects in MTMR13 are the cause of Charcot-Marie-Tooth disease type 4B2 (CMT4B2). CMT4B2 is a recessive form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily. Two isoforms of the human protein are produced by alternative splicing.Protein type: GEFs; GEFs, RabChromosomal Location of Human Ortholog: 11p15.4Cellular Component: membraneMolecular Function: protein binding; Rab guanyl-nucleotide exchange factor activityDisease: Charcot-marie-tooth Disease, Type 4b2 |
UniProt Protein Details: | |
NCBI Summary: | This gene encodes a pseudophosphatase and member of the myotubularin-related protein family. This gene maps within the CMT4B2 candidate region of chromosome 11p15 and mutations in this gene have been associated with Charcot-Marie-Tooth Disease, type 4B2. [provided by RefSeq, Jul 2008] |
UniProt Code: | Q86WG5 |
NCBI GenInfo Identifier: | 29788755 |
NCBI Gene ID: | 81846 |
NCBI Accession: | NP_112224.1 |
UniProt Secondary Accession: | Q86WG5,Q3MJF0, Q68DQ3, Q6P459, Q6PJD1, Q7Z325, Q7Z621 Q86VE2, Q96FE2, Q9C097 |
UniProt Related Accession: | Q86WG5 |
Molecular Weight: | |
NCBI Full Name: | myotubularin-related protein 13 |
NCBI Synonym Full Names: | SET binding factor 2 |
NCBI Official Symbol: | SBF2Â Â |
NCBI Official Synonym Symbols: | CMT4B2; MTMR13; DENND7BÂ Â |
NCBI Protein Information: | myotubularin-related protein 13 |
UniProt Protein Name: | Myotubularin-related protein 13 |
UniProt Synonym Protein Names: | SET-binding factor 2 |
Protein Family: | Myotubularin-related protein |
UniProt Gene Name: | SBF2Â Â |
UniProt Entry Name: | MTMRD_HUMAN |