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Fig4 FIG4 phosphoinositide 5-phosphatase [ Rattus norvegicus (Norway rat) ]

Gene ID: 309855, updated on 27-Nov-2024

Summary

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Official Symbol
Fig4provided by RGD
Official Full Name
FIG4 phosphoinositide 5-phosphataseprovided by RGD
Primary source
RGD:1311375
See related
EnsemblRapid:ENSRNOG00000000312 AllianceGenome:RGD:1311375
Gene type
protein coding
RefSeq status
PROVISIONAL
Organism
Rattus norvegicus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as
Sac3; Kiaa0274; RGD1311375
Summary
Enables phosphatidylinositol bisphosphate phosphatase activity; phosphatidylinositol-3-phosphate phosphatase activity; and phosphatidylinositol-4-phosphate phosphatase activity. Involved in positive regulation of neuron projection development. Located in recycling endosome. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 4J; Yunis-Varon syndrome; amyotrophic lateral sclerosis type 11; and bilateral parasagittal parieto-occipital polymicrogyria. Orthologous to human FIG4 (FIG4 phosphoinositide 5-phosphatase). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in Kidney (RPKM 63.9), Brain (RPKM 62.1) and 9 other tissues See more
Orthologs
human mouse all
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Genomic context

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See Fig4 in Genome Data Viewer
Location:
20q12
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCr8 (GCF_036323735.1) 20 NC_086038.1 (46183225..46306686, complement)
RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 20 NC_051355.1 (44600603..44724047, complement)
106 previous assembly Rnor_6.0 (GCF_000001895.5) 20 NC_005119.4 (45922806..46044754, complement)

Chromosome 20 - NC_086038.1Genomic Context describing neighboring genes Neighboring gene WASP family member 1 Neighboring gene G protein-coupled receptor 6 Neighboring gene small nucleolar RNA SNORA17 Neighboring gene U6 spliceosomal RNA Neighboring gene UTP15, small subunit processome component Neighboring gene adenylate kinase 9 Neighboring gene uncharacterized LOC120098942

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
  • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
  • BioProject: PRJNA238328
  • Publication: PMID 24510058
  • Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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Related articles in PubMed

  1. rSac3, a novel Sac domain phosphoinositide phosphatase, promotes neurite outgrowth in PC12 cells. Yuan Y, et al. Cell Res, 2007 Nov. PMID 17909536
  2. Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Chow CY, et al. Nature, 2007 Jul 5. PMID 17572665, Free PMC Article
  3. Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies. Vaccari I, et al. PLoS Genet, 2011 Oct. PMID 22028665, Free PMC Article
  4. Core protein machinery for mammalian phosphatidylinositol 3,5-bisphosphate synthesis and turnover that regulates the progression of endosomal transport. Novel Sac phosphatase joins the ArPIKfyve-PIKfyve complex. Sbrissa D, et al. J Biol Chem, 2007 Aug 17. PMID 17556371
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

GeneRIFs: Gene References Into Functions

General gene information

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Markers

Homology

Gene Ontology Provided by RGD

Function Evidence Code Pubs
enables phosphatidylinositol bisphosphate phosphatase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables phosphatidylinositol-3-phosphate phosphatase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables phosphatidylinositol-4-phosphate phosphatase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within locomotory behavior ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within myelin assembly ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of myelination ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within negative regulation of myelination ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within neuron development ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within phosphatidylinositol metabolic process ISO
Inferred from Sequence Orthology
more info
  
involved_in phosphatidylinositol-3-phosphate biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within pigmentation ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of neuron projection development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within vacuole organization ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in endosome membrane ISO
Inferred from Sequence Orthology
more info
  
located_in intracellular membrane-bounded organelle ISO
Inferred from Sequence Orthology
more info
  
located_in lipid droplet IEA
Inferred from Electronic Annotation
more info
  
located_in lipid droplet ISO
Inferred from Sequence Orthology
more info
  
located_in recycling endosome IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
polyphosphoinositide phosphatase
Names
Sac domain-containing inositol phosphatase 3
NP_001040561.1
XP_006256602.1
XP_006256603.1
XP_038954694.1
XP_038954695.1

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001047096.1 → NP_001040561.1  polyphosphoinositide phosphatase

    See identical proteins and their annotated locations for NP_001040561.1

    Status: PROVISIONAL

    Source sequence(s)
    DQ666853
    UniProtKB/TrEMBL
    A0A8I6ADY9, A6KTC8, F7ESC7, Q0Z843
    Related
    ENSRNOP00000000343.2, ENSRNOT00000000343.6
    Conserved Domains (2) summary
    COG5329
    Location:14 → 636
    COG5329; Phosphoinositide polyphosphatase (Sac family) [Signal transduction mechanisms]
    pfam02383
    Location:93 → 423
    Syja_N; SacI homology domain

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

  1. NC_086038.1 Reference GRCr8

    Range
    46183225..46306686 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006256541.5 → XP_006256603.1  polyphosphoinositide phosphatase isoform X1

    See identical proteins and their annotated locations for XP_006256603.1

    UniProtKB/TrEMBL
    A0A8I6ADY9, A6KTC9
    Conserved Domains (1) summary
    pfam02383
    Location:6 → 308
    Syja_N; SacI homology domain

  2. XM_006256540.4 → XP_006256602.1  polyphosphoinositide phosphatase isoform X1

    See identical proteins and their annotated locations for XP_006256602.1

    UniProtKB/TrEMBL
    A0A8I6ADY9, A6KTC9
    Conserved Domains (1) summary
    pfam02383
    Location:6 → 308
    Syja_N; SacI homology domain

  3. XM_039098766.2 → XP_038954694.1  polyphosphoinositide phosphatase isoform X1

    UniProtKB/TrEMBL
    A0A8I6ADY9, A6KTC9
    Conserved Domains (1) summary
    pfam02383
    Location:6 → 308
    Syja_N; SacI homology domain

  4. XM_039098767.2 → XP_038954695.1  polyphosphoinositide phosphatase isoform X2

    Conserved Domains (1) summary
    pfam02383
    Location:93 → 423
    Syja_N; SacI homology domain
Nucleotide Protein Strain
Heading Accession and Version

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