Seroatlas · Human Serome Atlas

FIG4

Polyphosphoinositide phosphatase

Also known as: ALS11, CMT4J, dJ249I4.1, FIG4_HUMAN, hSac3, KIAA0274, SAC3

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q92562
Gene: FIG4
Ensembl: ENSG00000112367
Chromosome: 6
Canonical length: 907 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Vesicles,Lipid droplets

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

907 residues, UniProt reviewed canonical sequence.

>Q92562|FIG4
     1  MPTAAAPIIS SVQKLVLYET RARYFLVGSN NAETKYRVLK IDRTEPKDLV IIDDRHVYTQ
    61  QEVRELLGRL DLGNRTKMGQ KGSSGLFRAV SAFGVVGFVR FLEGYYIVLI TKRRKMADIG
   121  GHAIYKVEDT NMIYIPNDSV RVTHPDEARY LRIFQNVDLS SNFYFSYSYD LSHSLQYNLT
   181  VLRMPLEMLK SEMTQNRQES FDIFEDEGLI TQGGSGVFGI CSEPYMKYVW NGELLDIIKS
   241  TVHRDWLLYI IHGFCGQSKL LIYGRPVYVT LIARRSSKFA GTRFLKRGAN CEGDVANEVE
   301  TEQILCDASV MSFTAGSYSS YVQVRGSVPL YWSQDISTMM PKPPITLDQA DPFAHVAALH
   361  FDQMFQRFGS PIIILNLVKE REKRKHERIL SEELVAAVTY LNQFLPPEHT IVYIPWDMAK
   421  YTKSKLCNVL DRLNVIAESV VKKTGFFVNR PDSYCSILRP DEKWNELGGC VIPTGRLQTG
   481  ILRTNCVDCL DRTNTAQFMV GKCALAYQLY SLGLIDKPNL QFDTDAVRLF EELYEDHGDT
   541  LSLQYGGSQL VHRVKTYRKI APWTQHSKDI MQTLSRYYSN AFSDADRQDS INLFLGVFHP
   601  TEGKPHLWEL PTDFYLHHKN TMRLLPTRRS YTYWWTPEVI KHLPLPYDEV ICAVNLKKLI
   661  VKKFHKYEEE IDIHNEFFRP YELSSFDDTF CLAMTSSARD FMPKTVGIDP SPFTVRKPDE
   721  TGKSVLGNKS NREEAVLQRK TAASAPPPPS EEAVSSSSED DSGTDREEEG SVSQRSTPVK
   781  MTDAGDSAKV TENVVQPMKE LYGINLSDGL SEEDFSIYSR FVQLGQSQHK QDKNSQQPCS
   841  RCSDGVIKLT PISAFSQDNI YEVQPPRVDR KSTEIFQAHI QASQGIMQPL GKEDSSMYRE
   901  YIRNRYL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FIG4 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Other membrane
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.31
Highest tissue expression: 16 nTPM

Expression across tissuesHPA

Tissue

parathyroid gland: 16 nTPM
lung: 13 nTPM
cerebral cortex: 13 nTPM
thymus: 11 nTPM
spleen: 10 nTPM
choroid plexus: 10 nTPM

Single-cell type

neutrophil progenitors: 151 nCPM
cardiomyocytes: 119 nCPM
neutrophils: 102 nCPM
brain inhibitory neurons: 87 nCPM
kupffer cells: 76 nCPM
microglia: 73 nCPM

Immune cell

classical monocyte: 25 nTPM
intermediate monocyte: 25 nTPM
naive B-cell: 21 nTPM
myeloid DC: 19 nTPM
memory B-cell: 19 nTPM
basophil: 15 nTPM

Brain region

choroid plexus: 26 nTPM
pons: 18 nTPM
hypothalamus: 17 nTPM
midbrain: 14 nTPM
basal ganglia: 14 nTPM
white matter: 13 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FIG4.

Disease | AllUniProt

Conditions FIG4 is implicated in, by any mechanism.

Charcot-Marie-Tooth disease, demyelinating, type 4J (CMT4J) MIM:611228
Amyotrophic lateral sclerosis 11 (ALS11) MIM:612577
Yunis-Varon syndrome (YVS) MIM:216340
Polymicrogyria, bilateral temporooccipital (BTOP) MIM:612691

Disease | GeneticClinVar

125 pathogenic / likely-pathogenic of 1,151 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.24
gnomAD pLI: 0
gnomAD missense Z: 1.88
DepMap mean gene effect: -0.09
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

SAC domain
SacI homology domain
Polyphosphoinositide phosphatase Fig4-like

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of FIG4 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads FIG4 as an antibody target. Whether an autoantibody or antibody against FIG4 could matter depends on whether native FIG4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

FIG4 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label FIG4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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