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Aliases for FIG4 Gene

Aliases for FIG4 Gene

  • FIG4 Phosphoinositide 5-Phosphatase 2 3
  • KIAA0274 2 3 4 6
  • SAC3 3 4 6
  • Phosphatidylinositol 3,5-Bisphosphate 5-Phosphatase 3 4
  • SAC Domain-Containing Protein 3 3 4
  • ALS11 3 6
  • YVS 3 6
  • FIG4 Homolog, SAC1 Lipid Phosphatase Domain Containing (S. Cerevisiae) 2
  • FIG4 Homolog, SAC1 Domain Containing Lipid Phosphatase 3
  • FIG4 Homolog, SAC1 Lipid Phosphatase Domain Containing 3
  • FIG4 Homolog, SAC Domain Containing Lipid Phosphatase 3
  • Sac Domain-Containing Inositol Phosphatase 3 3
  • Polyphosphoinositide Phosphatase 3
  • FIG4 Homolog (S. Cerevisiae) 2
  • EC 3.1.3.36 64
  • EC 3.1.3.- 4
  • DJ249I4.1 3
  • EC 3.1.3 64
  • CMT4J 3
  • BTOP 3

External Ids for FIG4 Gene

Previous Symbols for FIG4 Gene

  • KIAA0274

Summaries for FIG4 Gene

Entrez Gene Summary for FIG4 Gene

  • 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]

GeneCards Summary for FIG4 Gene

FIG4 (FIG4 Phosphoinositide 5-Phosphatase) is a Protein Coding gene. Diseases associated with FIG4 include charcot-marie-tooth disease, type 4j and yunis-varon syndrome. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include phosphatidylinositol-3-phosphatase activity and phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity.

UniProtKB/Swiss-Prot for FIG4 Gene

  • The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). In vitro, hydrolyzes all three D5-phosphorylated polyphosphoinositide substrates in the order PtdIns(4,5)P2 > PtdIns(3,5)P2 > PtdIns(3,4,5)P3. Plays a role in the biogenesis of endosome carrier vesicles (ECV) / multivesicular bodies (MVB) transport intermediates from early endosomes.

Gene Wiki entry for FIG4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FIG4 Gene

Genomics for FIG4 Gene

Genomic Location for FIG4 Gene

Start:
109,691,221 bp from pter
End:
109,825,431 bp from pter
Size:
134,211 bases
Orientation:
Plus strand

Genomic View for FIG4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FIG4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FIG4 Gene

Regulatory Elements for FIG4 Gene

Proteins for FIG4 Gene

  • Protein details for FIG4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92562-FIG4_HUMAN
    Recommended name:
    Polyphosphoinositide phosphatase
    Protein Accession:
    Q92562
    Secondary Accessions:
    • Q53H49
    • Q5TCS6

    Protein attributes for FIG4 Gene

    Size:
    907 amino acids
    Molecular mass:
    103635 Da
    Quaternary structure:
    • Component of the PI(3,5)P2 regulatory complex/PAS complex, at least composed of PIKFYVE, FIG4 and VAC14. VAC14 nucleates the assembly of the complex and serves as a scaffold.
    SequenceCaution:
    • Sequence=BAA13403.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for FIG4 Gene

Proteomics data for FIG4 Gene at MOPED

Selected DME Specific Peptides for FIG4 Gene

Post-translational modifications for FIG4 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys379

Other Protein References for FIG4 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for FIG4 Gene

Protein Domains for FIG4 Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

FIG4_HUMAN
Domain:
  • Contains 1 SAC domain.:
    • Q92562
genes like me logo Genes that share domains with FIG4: view

No data available for Gene Families for FIG4 Gene

Function for FIG4 Gene

Molecular function for FIG4 Gene

UniProtKB/Swiss-Prot Function: The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). In vitro, hydrolyzes all three D5-phosphorylated polyphosphoinositide substrates in the order PtdIns(4,5)P2 > PtdIns(3,5)P2 > PtdIns(3,4,5)P3. Plays a role in the biogenesis of endosome carrier vesicles (ECV) / multivesicular bodies (MVB) transport intermediates from early endosomes.

Enzyme Numbers (IUBMB) for FIG4 Gene

Gene Ontology (GO) - Molecular Function for FIG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004438 phosphatidylinositol-3-phosphatase activity IEA --
GO:0005515 protein binding IPI 17556371
GO:0034593 phosphatidylinositol bisphosphate phosphatase activity --
GO:0042578 phosphoric ester hydrolase activity --
GO:0043812 phosphatidylinositol-4-phosphate phosphatase activity IEA --
genes like me logo Genes that share ontologies with FIG4: view
genes like me logo Genes that share phenotypes with FIG4: view

miRNA for FIG4 Gene

miRTarBase miRNAs that target FIG4

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for FIG4 Gene

Localization for FIG4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FIG4 Gene

Endosome membrane. Note=Localization requires VAC14 and PIKFYVE.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FIG4 Gene COMPARTMENTS Subcellular localization image for FIG4 gene
Compartment Confidence
endosome 5
golgi apparatus 4
cytosol 2
lysosome 2
nucleus 2
vacuole 2
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for FIG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005783 endoplasmic reticulum IEA --
GO:0005794 Golgi apparatus --
GO:0010008 endosome membrane IDA 17556371
GO:0031901 early endosome membrane TAS --
genes like me logo Genes that share ontologies with FIG4: view

Pathways for FIG4 Gene

genes like me logo Genes that share pathways with FIG4: view

Gene Ontology (GO) - Biological Process for FIG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006644 phospholipid metabolic process TAS --
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0007033 vacuole organization IEA --
GO:0007626 locomotory behavior IEA --
GO:0008152 metabolic process --
genes like me logo Genes that share ontologies with FIG4: view

Transcripts for FIG4 Gene

Unigene Clusters for FIG4 Gene

FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FIG4 Gene

No ASD Table

Relevant External Links for FIG4 Gene

GeneLoc Exon Structure for
FIG4
ECgene alternative splicing isoforms for
FIG4

Expression for FIG4 Gene

mRNA expression in normal human tissues for FIG4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for FIG4 Gene

SOURCE GeneReport for Unigene cluster for FIG4 Gene Hs.529959

genes like me logo Genes that share expressions with FIG4: view

Orthologs for FIG4 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for FIG4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FIG4 36
  • 99.78 (n)
  • 99.78 (a)
FIG4 37
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FIG4 36
  • 91.47 (n)
  • 96.91 (a)
FIG4 37
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FIG4 36
  • 93.46 (n)
  • 98.02 (a)
FIG4 37
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fig4 36
  • 87.17 (n)
  • 95.15 (a)
Fig4 16
Fig4 37
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FIG4 37
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FIG4 37
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fig4 36
  • 85.04 (n)
  • 93.94 (a)
chicken
(Gallus gallus)
Aves FIG4 36
  • 79.66 (n)
  • 89.25 (a)
FIG4 37
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FIG4 37
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fig4 36
  • 74.75 (n)
  • 81.64 (a)
zebrafish
(Danio rerio)
Actinopterygii fig4 36
  • 67.95 (n)
  • 74.32 (a)
FIG4 (1 of 2) 37
  • 74 (a)
OneToMany
FIG4 (2 of 2) 37
  • 74 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004477 36
  • 52.03 (n)
  • 48.75 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG17840 36
  • 50.51 (n)
  • 46.96 (a)
CG17840 37
  • 42 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C34B7.2 37
  • 34 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL195C 36
  • 51.58 (n)
  • 45.74 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FIG4 36
  • 52.63 (n)
  • 45.14 (a)
FIG4 37
  • 35 (a)
OneToOne
FIG4 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E02113g 36
  • 51.6 (n)
  • 42.42 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU08689 36
  • 51.34 (n)
  • 47.03 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC1093.03 36
  • 51.2 (n)
  • 45.25 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 55 (a)
OneToOne
Species with no ortholog for FIG4:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FIG4 Gene

ENSEMBL:
Gene Tree for FIG4 (if available)
TreeFam:
Gene Tree for FIG4 (if available)

Paralogs for FIG4 Gene

No data available for Paralogs for FIG4 Gene

Variants for FIG4 Gene

Sequence variations from dbSNP and Humsavar for FIG4 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs10659 -- 109,825,294(+) GACAC(A/G)TCTGA utr-variant-3-prime
rs829811 -- 109,693,679(-) GAGTC(A/G)ATCAG intron-variant
rs829812 -- 109,697,146(-) tagct(A/G)ggact intron-variant
rs1001167 -- 109,723,836(-) AAGCT(C/T)CTCCA intron-variant
rs1096136 -- 109,695,453(+) gaagg(A/G)ctctg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FIG4 Gene

Variant ID Type Subtype PubMed ID
nsv830769 CNV Gain 17160897
nsv5436 CNV Loss 18451855
nsv886533 CNV Loss 21882294
esv272669 CNV Insertion 20981092
esv270954 CNV Insertion 20981092
nsv5437 CNV Insertion 18451855

Relevant External Links for FIG4 Gene

HapMap Linkage Disequilibrium report
FIG4
Human Gene Mutation Database (HGMD)
FIG4

Disorders for FIG4 Gene

(3) OMIM Diseases for FIG4 Gene (609390)

UniProtKB/Swiss-Prot

FIG4_HUMAN
  • Charcot-Marie-Tooth disease 4J (CMT4J) [MIM:611228]: 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:0000269 PubMed:17572665, ECO:0000269 PubMed:21705420}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Amyotrophic lateral sclerosis 11 (ALS11) [MIM:612577]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. {ECO:0000269 PubMed:19118816}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Yunis-Varon syndrome (YVS) [MIM:216340]: A severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy. {ECO:0000269 PubMed:23623387}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Polymicrogyria, bilateral temporooccipital (BTOP) [MIM:612691]: A disease characterized by temporo-occipital polymicrogyria, psychiatric manifestations, and epilepsy. {ECO:0000269 PubMed:24598713}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for FIG4 Gene

Relevant External Links for FIG4

GeneTests
FIG4
GeneReviews
FIG4
Genetic Association Database (GAD)
FIG4
Human Genome Epidemiology (HuGE) Navigator
FIG4
genes like me logo Genes that share disorders with FIG4: view

Publications for FIG4 Gene

  1. Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. (PMID: 9039502) Nagase T. … Nomura N. (DNA Res. 1996) 2 3 4
  2. Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. (PMID: 17572665) Chow C.Y. … Meisler M.H. (Nature 2007) 2 3 4
  3. ArPIKfyve homomeric and heteromeric interactions scaffold PIKfyve and Sac3 in a complex to promote PIKfyve activity and functionality. (PMID: 18950639) Sbrissa D. … Shisheva A. (J. Mol. Biol. 2008) 3 4
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for FIG4 Gene

Sources for FIG4 Gene

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