InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SBF2

Summary

InnateDB Protein

IDBP-31531.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SBF2

Protein Name

SET binding factor 2

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000256190

InnateDB Gene

IDBG-31529 (SBF2)

Protein Structure

UniProt Annotation

Function

Guanine nucleotide exchange factor (GEF) which may activate RAB28. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. {ECO:0000269PubMed:20937701}.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:15998640}. Membrane {ECO:0000269PubMed:15998640}; Peripheral membrane protein {ECO:0000269PubMed:15998640}. Note=Associated with membranes.

Disease Associations

Charcot-Marie-Tooth disease 4B2 (CMT4B2) [MIM:604563]: A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot- Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. {ECO:0000269PubMed:12554688, ECO:0000269PubMed:12687498, ECO:0000269PubMed:15304601, ECO:0000269PubMed:15477569}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed. Expressed in spinal cord. {ECO:0000269PubMed:12554688}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0016791	phosphatase activity
GO:0017112	Rab guanyl-nucleotide exchange factor activity
GO:0019208	phosphatase regulator activity
GO:0019902	phosphatase binding
GO:0035091	phosphatidylinositol binding
GO:0042803	protein homodimerization activity

Biological Process

GO:0008219	cell death
GO:0016311	dephosphorylation
GO:0032851	positive regulation of Rab GTPase activity
GO:0042552	myelination
GO:0050790	regulation of catalytic activity
GO:0051262	protein tetramerization

Cellular Component

GO:0005774	vacuolar membrane
GO:0016020	membrane

Protein Structure and Domains

PDB ID

InterPro

IPR001194 DENN domain
IPR001849 Pleckstrin homology domain
IPR004182 GRAM domain
IPR005112 dDENN domain
IPR005113 uDENN domain
IPR010569 Myotubularin-like phosphatase domain
IPR022096 Myotubularin protein
IPR029021 Protein-tyrosine phosphatase-like

PFAM