Format

Send to:

Choose Destination

FIG4 FIG4 phosphoinositide 5-phosphatase [ Homo sapiens (human) ]

Gene ID: 9896, updated on 12-May-2016
Official Symbol
FIG4provided by HGNC
Official Full Name
FIG4 phosphoinositide 5-phosphataseprovided by HGNC
Primary source
HGNC:HGNC:16873
See related
Ensembl:ENSG00000112367 HPRD:11073; MIM:609390; Vega:OTTHUMG00000015352
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
YVS; BTOP; SAC3; ALS11; CMT4J; KIAA0274; dJ249I4.1
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]
Orthologs
Location:
6q21
Exon count:
24
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 6 NC_000006.12 (109691221..109825431)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (110012424..110146634)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377935 Neighboring gene microtubule associated monooxygenase, calponin and LIM domain containing 1 Neighboring gene zinc finger and BTB domain containing 24 Neighboring gene adenylate kinase 9 Neighboring gene G protein-coupled receptor 6 Neighboring gene WAS protein family member 1 Neighboring gene cell division cycle 40

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • 3-phosphoinositide biosynthesis, organism-specific biosystem (from BIOCYC)
    3-phosphoinositide biosynthesis, organism-specific biosystem: Phosphoinositides "Phosphoinositides" play a key role in signal transduction, transmitting signals from the cell surface to modulate intracellular processes. One well known phosphoinositide pathway...
  • 3-phosphoinositide biosynthesis, conserved biosystem (from BIOCYC)
    3-phosphoinositide biosynthesis, conserved biosystem|FRAME: Phosphoinositides "Phosphoinositides"| play a key role in signal transduction in the eukaryotic cell, transmitting signals from the cell surface to modulate intracellular processes. One well ...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • PI Metabolism, organism-specific biosystem (from REACTOME)
    PI Metabolism, organism-specific biosystemPhosphatidylinositol (PI), a membrane phospholipid, can be reversibly phosphorylated at the 3, 4, and 5 positions of the inositol ring to generate seven phosphoinositides: phosphatidylinositol 3-phos...
  • Phospholipid metabolism, organism-specific biosystem (from REACTOME)
    Phospholipid metabolism, organism-specific biosystemPhospholipids contain a polar head group and two long-chain fatty acyl moieties, one of which is generally unsaturated. The head group is a glycerol or serine phosphate attached to a polar group such...
  • Synthesis of PIPs at the Golgi membrane, organism-specific biosystem (from REACTOME)
    Synthesis of PIPs at the Golgi membrane, organism-specific biosystemAt the Golgi membrane, phosphatidylinositol 4-phosphate (PI4P) is primarily generated from phosphorylation of phosphatidylinositol (PI). Other phosphoinositides are also generated by the action of v...
  • Synthesis of PIPs at the early endosome membrane, organism-specific biosystem (from REACTOME)
    Synthesis of PIPs at the early endosome membrane, organism-specific biosystemAt the early endosome membrane, phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2) is generated in two steps from phosphatidylinositol 3,4-bisphosphate PI(3,4)P2 by the action of various kinases and p...
  • Synthesis of PIPs at the late endosome membrane, organism-specific biosystem (from REACTOME)
    Synthesis of PIPs at the late endosome membrane, organism-specific biosystemAt the late endosome membrane, the primary event is the dephosphorylation of the phosphoinositide phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2) to phosphatidylinositol 3-phosphate (PI3P) and phos...
  • superpathway of inositol phosphate compounds, organism-specific biosystem (from BIOCYC)
    superpathway of inositol phosphate compounds, organism-specific biosystem
    superpathway of inositol phosphate compounds
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA0274

Gene Ontology Provided by GOA

Function Evidence Code Pubs
phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity TAS
Traceable Author Statement
more info
 
phosphatidylinositol-3-phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol-4-phosphate phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
myelin assembly IEA
Inferred from Electronic Annotation
more info
 
negative regulation of myelination IEA
Inferred from Electronic Annotation
more info
 
neuron development IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol biosynthetic process TAS
Traceable Author Statement
more info
 
phosphatidylinositol-3-phosphate biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
pigmentation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of neuron projection development IEA
Inferred from Electronic Annotation
more info
 
vacuole organization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi membrane TAS
Traceable Author Statement
more info
 
early endosome membrane TAS
Traceable Author Statement
more info
 
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
late endosome membrane TAS
Traceable Author Statement
more info
 
recycling endosome IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
polyphosphoinositide phosphatase
Names
FIG4 homolog, SAC domain containing lipid phosphatase
FIG4 homolog, SAC1 domain containing lipid phosphatase
FIG4 homolog, SAC1 lipid phosphatase domain containing
SAC domain-containing protein 3
Sac domain-containing inositol phosphatase 3
phosphatidylinositol 3,5-bisphosphate 5-phosphatase

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007977.1 RefSeqGene

    Range
    5001..139211
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_241

mRNA and Protein(s)

  1. NM_014845.5NP_055660.1  polyphosphoinositide phosphatase

    See identical proteins and their annotated locations for NP_055660.1

    Status: REVIEWED

    Source sequence(s)
    AK222732, BC041338, BU683891, DA811740
    Consensus CDS
    CCDS5078.1
    UniProtKB/Swiss-Prot
    Q92562
    Related
    ENSP00000230124, OTTHUMP00000016976, ENST00000230124, OTTHUMT00000041768
    Conserved Domains (2) summary
    COG5329
    Location:14636
    COG5329; Phosphoinositide polyphosphatase (Sac family) [Signal transduction mechanisms]
    pfam02383
    Location:92423
    Syja_N; SacI homology domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p2 Primary Assembly

    Range
    109691221..109825431
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011536281.1XP_011534583.1  

    Conserved Domains (1) summary
    pfam02383
    Location:71402
    Syja_N; SacI homology domain

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 Alternate CHM1_1.1

    Range
    110275404..110409874
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)