Homo sapiens Gene: FIG4
Summary
InnateDB Gene IDBG-95178.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FIG4
Gene Name FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)
Synonyms ALS11; BTOP; CMT4J; dJ249I4.1; KIAA0274; SAC3; YVS;
Species Homo sapiens
Ensembl Gene ENSG00000112367
Encoded Proteins
FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)
FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)
FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)
FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)
FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene belongs to the SAC domain-containing protein gene family. The SAC domain, approximately 400 amino acids in length and consisting of seven conserved motifs, has been shown to possess phosphoinositide phosphatase activity. The yeast homolog, Sac1p, is involved in the regulation of various phosphoinositides, and affects diverse cellular functions such as actin cytoskeleton organization, Golgi function, and maintenance of vacuole morphology. Membrane-bound phosphoinositides function as signaling molecules and play a key role in vesicle trafficking in eukaryotic cells. Mutations in this gene have been associated with Charcot-Marie-Tooth disease, type 4J. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:109691312-109825428
Strand Forward strand
Band q21
Transcripts
ENST00000230124 ENSP00000230124
ENST00000368941 ENSP00000357937
ENST00000454215 ENSP00000412156
ENST00000415980 ENSP00000405660
ENST00000419951 ENSP00000396566
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated
Total 5 [view]
Protein-Protein 3 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004438 phosphatidylinositol-3-phosphatase activity
GO:0005515 protein binding
GO:0034593 phosphatidylinositol bisphosphate phosphatase activity
GO:0042578 phosphoric ester hydrolase activity
GO:0043812 phosphatidylinositol-4-phosphate phosphatase activity
GO:0043813 phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity
Biological Process
GO:0006644 phospholipid metabolic process
GO:0006661 phosphatidylinositol biosynthetic process
GO:0007033 vacuole organization
GO:0007626 locomotory behavior
GO:0008152 metabolic process
GO:0008219 cell death
GO:0010976 positive regulation of neuron projection development
GO:0016311 dephosphorylation
GO:0031642 negative regulation of myelination
GO:0032288 myelin assembly
GO:0036092 phosphatidylinositol-3-phosphate biosynthetic process
GO:0043473 pigmentation
GO:0044281 small molecule metabolic process
GO:0046488 phosphatidylinositol metabolic process
GO:0048666 neuron development
Cellular Component
GO:0000139 Golgi membrane
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0010008 endosome membrane
GO:0031901 early endosome membrane
GO:0031902 late endosome membrane
GO:0055037 recycling endosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Synthesis of PIPs at the early endosome membrane pathway
Synthesis of PIPs at the late endosome membrane pathway
Synthesis of PIPs at the Golgi membrane pathway
Metabolism of lipids and lipoproteins pathway
PI Metabolism pathway
Metabolism pathway
Metabolism of lipids and lipoproteins pathway
Synthesis of PIPs at the early endosome membrane pathway
Synthesis of PIPs at the Golgi membrane pathway
Synthesis of PIPs at the late endosome membrane pathway
PI Metabolism pathway
Phospholipid metabolism pathway
Phospholipid metabolism pathway
Metabolism pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.529959
RefSeq NM_014845
HUGO
OMIM
CCDS CCDS5078
HPRD 11073
IMGT
EMBL
GenPept
RNA Seq Atlas