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

Gene ID: 9896, updated on 6-Jun-2024

Summary

Official Symbol
FIG4provided by HGNC
Official Full Name
FIG4 phosphoinositide 5-phosphataseprovided by HGNC
Primary source
HGNC:HGNC:16873
See related
Ensembl:ENSG00000112367 MIM:609390; AllianceGenome:HGNC:16873
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
BOP; 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]
Expression
Ubiquitous expression in brain (RPKM 6.2), lung (RPKM 4.8) and 25 other tissues See more
Orthologs
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Genomic context

See FIG4 in Genome Data Viewer
Location:
6q21
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (109691296..109825426)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (110869350..111003788)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (110012499..110146629)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24929 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24930 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:109801913-109802414 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17463 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17464 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:109811810-109812520 Neighboring gene microtubule associated monooxygenase, calponin and LIM domain containing 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:109828991-109829516 Neighboring gene ZBTB24 divergent transcript Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:109829517-109830042 Neighboring gene zinc finger and BTB domain containing 24 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:109834827-109835332 Neighboring gene adenylate kinase 9 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:110000392-110001073 Neighboring gene MPRA-validated peak6018 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24931 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24932 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:110176827-110177342 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:110177343-110177858 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:110203046-110204245 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:110214364-110214978 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:110265029-110265927 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:110265928-110266825 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:110299945-110300750 Neighboring gene uncharacterized LOC107986631 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24933 Neighboring gene G protein-coupled receptor 6

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • KIAA0274

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
involved_in myelin assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of myelination IEA
Inferred from Electronic Annotation
more info
 
involved_in neuron development IEA
Inferred from Electronic Annotation
more info
 
involved_in phosphatidylinositol biosynthetic process TAS
Traceable Author Statement
more info
 
involved_in phosphatidylinositol dephosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in phosphatidylinositol-3-phosphate biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in pigmentation IEA
Inferred from Electronic Annotation
more info
 
involved_in vacuole organization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in Golgi membrane TAS
Traceable Author Statement
more info
 
located_in early endosome membrane TAS
Traceable Author Statement
more info
 
located_in endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
located_in late endosome membrane TAS
Traceable Author Statement
more info
 
located_in lipid droplet IDA
Inferred from Direct Assay
more info
 

General protein information

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
serine-protein phosphatase FIG4
NP_055660.1
XP_011534583.1
XP_054212880.1

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.

Genomic

  1. NG_007977.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_014845.6NP_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
    Q53H49, Q5TCS6, Q92562
    UniProtKB/TrEMBL
    A0A6Q8PF62
    Related
    ENSP00000230124.4, ENST00000230124.8
    Conserved Domains (2) summary
    COG5329
    Location:14636
    COG5329; Phosphoinositide polyphosphatase (Sac family) [Signal transduction mechanisms]
    pfam02383
    Location:93423
    Syja_N; SacI homology domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    109691296..109825426
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011536281.4XP_011534583.1  polyphosphoinositide phosphatase isoform X1

    UniProtKB/TrEMBL
    A0A6Q8PF62
    Conserved Domains (1) summary
    pfam02383
    Location:72402
    Syja_N; SacI homology domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    110869350..111003788
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054356905.1XP_054212880.1  polyphosphoinositide phosphatase isoform X1

    UniProtKB/TrEMBL
    A0A6Q8PF62