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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]
FIG4 (FIG4 Phosphoinositide 5-Phosphatase) is a Protein Coding gene. Diseases associated with FIG4 include Polymicrogyria, Bilateral Temporooccipital and Charcot-Marie-Tooth Disease, Type 4J. Among its related pathways are PI Metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol-3-phosphatase activity and phosphatidylinositol bisphosphate phosphatase activity. An important paralog of this gene is SYNJ2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004438 | phosphatidylinositol-3-phosphatase activity | IEA | -- |
GO:0005515 | protein binding | IPI | 17556371 |
GO:0016787 | hydrolase activity | IEA | -- |
GO:0034593 | phosphatidylinositol bisphosphate phosphatase activity | IEA | -- |
GO:0042578 | phosphoric ester hydrolase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | TAS | -- |
GO:0005768 | endosome | IEA | -- |
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005794 | Golgi apparatus | IEA | -- |
GO:0005811 | lipid droplet | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | PI Metabolism |
.63
|
|
2 | Inositol phosphate metabolism (KEGG) | ||
3 | Metabolism |
.40
|
|
4 | Glycerophospholipid biosynthesis |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006661 | phosphatidylinositol biosynthetic process | TAS | -- |
GO:0007033 | vacuole organization | IEA | -- |
GO:0007626 | locomotory behavior | IEA | -- |
GO:0010976 | positive regulation of neuron projection development | IEA | -- |
GO:0016311 | dephosphorylation | IEA | -- |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FIG4 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FIG4 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | FIG4 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | FIG4 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Fig4 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Fig4 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | FIG4 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | FIG4 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | FIG4 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | fig4 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | FIG4 (2 of 2) 31 |
|
OneToMany | |
FIG4 (1 of 2) 31 |
|
OneToMany | |||
fig4 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004477 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG17840 30 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | C34B7.2 31 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | FIG4 30 31 33 |
|
OneToOne | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E02113g 30 |
|
||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ADL195C 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU08689 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPAC1093.03 30 |
|
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
637085 | Uncertain Significance: Charcot-Marie-Tooth disease | 109,760,261(+) | AA/T | FRAMESHIFT_VARIANT | |
637086 | Uncertain Significance: Charcot-Marie-Tooth disease | 109,786,338(+) | A/AG | FRAMESHIFT_VARIANT | |
637500 | Pathogenic: Charcot-Marie-Tooth disease | 109,791,491(+) | C/CG | FRAMESHIFT_VARIANT | |
637525 | Uncertain Significance: Charcot-Marie-Tooth disease | 109,741,458(+) | GGAC/TTCCAAGAGCT | FRAMESHIFT_VARIANT | |
637526 | Uncertain Significance: Charcot-Marie-Tooth disease | 109,760,259(+) | AA/T | NONSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3306678 | CNV | mobile element insertion | 20981092 |
esv3308396 | CNV | mobile element insertion | 20981092 |
esv3419021 | CNV | insertion | 20981092 |
esv3435539 | CNV | duplication | 20981092 |
esv3436310 | CNV | insertion | 20981092 |
esv3438966 | CNV | insertion | 20981092 |
nsv1019690 | CNV | gain | 25217958 |
nsv5436 | CNV | deletion | 18451855 |
nsv5437 | CNV | insertion | 18451855 |
nsv604485 | CNV | loss | 21841781 |
nsv830769 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
polymicrogyria, bilateral temporooccipital |
|
|
charcot-marie-tooth disease, type 4j |
|
|
yunis-varon syndrome |
|
|
amyotrophic lateral sclerosis 11 |
|
|
amyotrophic lateral sclerosis 1 |
|