InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SBF1

Summary

InnateDB Protein

IDBP-13354.7

Last Modified

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

Gene Symbol

SBF1

Protein Name

SET binding factor 1

Synonyms

CMT4B3; DENND7A; MTMR5;

Species

Homo sapiens

Ensembl Protein

ENSP00000370196

InnateDB Gene

IDBG-13348 (SBF1)

Protein Structure

UniProt Annotation

Function

Probable pseudophosphatase. Lacks several amino acids in the catalytic pocket which renders it catalytically inactive as a phosphatase. The pocket is however sufficiently preserved to bind phosphorylated substrates, and maybe protect them from phosphatases. Inhibits myoblast differentiation in vitro and induces oncogenic transformation in fibroblasts. According to PubMed:20937701, may function as a guanine nucleotide exchange factor (GEF) activating RAB28. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. {ECO:0000269PubMed:20937701, ECO:0000269PubMed:9537414}.

Subcellular Localization

Nucleus {ECO:0000269PubMed:9537414}.

Disease Associations

Charcot-Marie-Tooth disease 4B3 (CMT4B3) [MIM:615284]: 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:23749797}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	16 [view]
Protein-Protein	15 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0008138	protein tyrosine/serine/threonine phosphatase activity
GO:0016791	phosphatase activity
GO:0017112	Rab guanyl-nucleotide exchange factor activity

Biological Process

GO:0006470	protein dephosphorylation
GO:0007283	spermatogenesis
GO:0008219	cell death
GO:0016311	dephosphorylation
GO:0032851	positive regulation of Rab GTPase activity

Cellular Component

GO:0005634	nucleus
GO:0016021	integral component of 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