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Protein

Polyphosphoinositide phosphatase

Gene

FIG4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.1 Publication

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Enzyme and pathway databases

BioCyciMetaCyc:HS12771-MONOMER.
ReactomeiREACT_120756. Synthesis of PIPs at the early endosome membrane.
REACT_120836. Synthesis of PIPs at the Golgi membrane.
REACT_120918. Synthesis of PIPs at the late endosome membrane.
REACT_325171. Synthesis of PIPs at the Golgi membrane.
REACT_330693. Synthesis of PIPs at the early endosome membrane.
REACT_337672. Synthesis of PIPs at the late endosome membrane.

Names & Taxonomyi

Protein namesi
Recommended name:
Polyphosphoinositide phosphatase (EC:3.1.3.-)
Alternative name(s):
Phosphatidylinositol 3,5-bisphosphate 5-phosphatase
SAC domain-containing protein 3
Gene namesi
Name:FIG4
Synonyms:KIAA0274, SAC3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:16873. FIG4.

Subcellular locationi

  • Endosome membrane 1 Publication

  • Note: Localization requires VAC14 and PIKFYVE.

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endosome, Membrane

Pathology & Biotechi

Involvement in diseasei

Charcot-Marie-Tooth disease 4J (CMT4J)2 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

See also OMIM:611228
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti17 – 171L → P in CMT4J. 1 Publication
VAR_071957
Natural varianti41 – 411I → T in CMT4J; the mutant protein is unstable; low levels of the protein results from impaired interaction with VAC14; is a hypomorphic allele. 3 Publications
Corresponds to variant rs121908287 [ dbSNP | Ensembl ].
VAR_036974
Natural varianti302 – 3021E → K in CMT4J; loss of function. 1 Publication
VAR_071958
Amyotrophic lateral sclerosis 11 (ALS11)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

See also OMIM:612577
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti53 – 531D → Y in ALS11. 1 Publication
VAR_054832
Yunis-Varon syndrome (YVS)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

See also OMIM:216340
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti104 – 1041G → D in YVS; complete loss of functiom mutation. 1 Publication
VAR_070051
Natural varianti175 – 1751L → P in YVS; complete loss of functiom mutation. 1 Publication
VAR_070052
Polymicrogyria, bilateral temporooccipital (BTOP)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA disease characterized by temporo-occipital polymicrogyria, psychiatric manifestations, and epilepsy.

See also OMIM:612691
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti783 – 7831D → V in BTOP; partial loss of function. 1 Publication
VAR_071959

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi488 – 4881D → A: Loss of activity. 1 Publication

Keywords - Diseasei

Amyotrophic lateral sclerosis, Charcot-Marie-Tooth disease, Disease mutation, Neurodegeneration, Neuropathy

Organism-specific databases

MIMi216340. phenotype.
611228. phenotype.
612577. phenotype.
612691. phenotype.
Orphaneti803. Amyotrophic lateral sclerosis.
208441. Bilateral parasagittal parieto-occipital polymicrogyria.
139515. Charcot-Marie-Tooth disease type 4J.
35689. Primary lateral sclerosis.
3472. Yunis-Varon syndrome.
PharmGKBiPA162388528.

Polymorphism and mutation databases

BioMutaiFIG4.
DMDMi2497367.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 907907Polyphosphoinositide phosphatasePRO_0000209743Add
BLAST

Proteomic databases

MaxQBiQ92562.
PaxDbiQ92562.
PRIDEiQ92562.

PTM databases

DEPODiQ92562.
PhosphoSiteiQ92562.

Expressioni

Gene expression databases

BgeeiQ92562.
CleanExiHS_FIG4.
ExpressionAtlasiQ92562. baseline and differential.
GenevestigatoriQ92562.

Organism-specific databases

HPAiCAB017823.

Interactioni

Subunit structurei

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.2 Publications

Protein-protein interaction databases

BioGridi115225. 10 interactions.
IntActiQ92562. 1 interaction.
MINTiMINT-2812974.
STRINGi9606.ENSP00000230124.

Structurei

3D structure databases

ProteinModelPortaliQ92562.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini154 – 547394SACPROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi746 – 7494Poly-Pro
Compositional biasi755 – 7584Poly-Ser

Sequence similaritiesi

Contains 1 SAC domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiCOG5329.
GeneTreeiENSGT00550000074943.
HOGENOMiHOG000168063.
InParanoidiQ92562.
OMAiRDFMPKN.
OrthoDBiEOG73FQM1.
PhylomeDBiQ92562.
TreeFamiTF105702.

Family and domain databases

InterProiIPR002013. SAC_dom.
[Graphical view]
PfamiPF02383. Syja_N. 1 hit.
[Graphical view]
PROSITEiPS50275. SAC. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q92562-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MPTAAAPIIS SVQKLVLYET RARYFLVGSN NAETKYRVLK IDRTEPKDLV
60 70 80 90 100
IIDDRHVYTQ QEVRELLGRL DLGNRTKMGQ KGSSGLFRAV SAFGVVGFVR
110 120 130 140 150
FLEGYYIVLI TKRRKMADIG GHAIYKVEDT NMIYIPNDSV RVTHPDEARY
160 170 180 190 200
LRIFQNVDLS SNFYFSYSYD LSHSLQYNLT VLRMPLEMLK SEMTQNRQES
210 220 230 240 250
FDIFEDEGLI TQGGSGVFGI CSEPYMKYVW NGELLDIIKS TVHRDWLLYI
260 270 280 290 300
IHGFCGQSKL LIYGRPVYVT LIARRSSKFA GTRFLKRGAN CEGDVANEVE
310 320 330 340 350
TEQILCDASV MSFTAGSYSS YVQVRGSVPL YWSQDISTMM PKPPITLDQA
360 370 380 390 400
DPFAHVAALH FDQMFQRFGS PIIILNLVKE REKRKHERIL SEELVAAVTY
410 420 430 440 450
LNQFLPPEHT IVYIPWDMAK YTKSKLCNVL DRLNVIAESV VKKTGFFVNR
460 470 480 490 500
PDSYCSILRP DEKWNELGGC VIPTGRLQTG ILRTNCVDCL DRTNTAQFMV
510 520 530 540 550
GKCALAYQLY SLGLIDKPNL QFDTDAVRLF EELYEDHGDT LSLQYGGSQL
560 570 580 590 600
VHRVKTYRKI APWTQHSKDI MQTLSRYYSN AFSDADRQDS INLFLGVFHP
610 620 630 640 650
TEGKPHLWEL PTDFYLHHKN TMRLLPTRRS YTYWWTPEVI KHLPLPYDEV
660 670 680 690 700
ICAVNLKKLI VKKFHKYEEE IDIHNEFFRP YELSSFDDTF CLAMTSSARD
710 720 730 740 750
FMPKTVGIDP SPFTVRKPDE TGKSVLGNKS NREEAVLQRK TAASAPPPPS
760 770 780 790 800
EEAVSSSSED DSGTDREEEG SVSQRSTPVK MTDAGDSAKV TENVVQPMKE
810 820 830 840 850
LYGINLSDGL SEEDFSIYSR FVQLGQSQHK QDKNSQQPCS RCSDGVIKLT
860 870 880 890 900
PISAFSQDNI YEVQPPRVDR KSTEIFQAHI QASQGIMQPL GKEDSSMYRE

YIRNRYL
Length:907
Mass (Da):103,635
Last modified:February 1, 1997 - v1
Checksum:i7B6F115C095EC332
GO

Sequence cautioni

The sequence BAA13403.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti310 – 3101V → A in BAD96452 (Ref. 2) Curated
Sequence conflicti453 – 4531S → P in BAD96452 (Ref. 2) Curated
Sequence conflicti598 – 5981F → S in BAD96452 (Ref. 2) Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti17 – 171L → P in CMT4J. 1 Publication
VAR_071957
Natural varianti41 – 411I → T in CMT4J; the mutant protein is unstable; low levels of the protein results from impaired interaction with VAC14; is a hypomorphic allele. 3 Publications
Corresponds to variant rs121908287 [ dbSNP | Ensembl ].
VAR_036974
Natural varianti48 – 481D → G.1 Publication
VAR_054831
Natural varianti53 – 531D → Y in ALS11. 1 Publication
VAR_054832
Natural varianti104 – 1041G → D in YVS; complete loss of functiom mutation. 1 Publication
VAR_070051
Natural varianti175 – 1751L → P in YVS; complete loss of functiom mutation. 1 Publication
VAR_070052
Natural varianti302 – 3021E → K in CMT4J; loss of function. 1 Publication
VAR_071958
Natural varianti364 – 3641M → L.
Corresponds to variant rs2295837 [ dbSNP | Ensembl ].
VAR_020378
Natural varianti388 – 3881R → G.1 Publication
VAR_054833
Natural varianti411 – 4111I → V.1 Publication
VAR_054834
Natural varianti647 – 6471Y → C.1 Publication
VAR_054835
Natural varianti654 – 6541V → A.1 Publication
Corresponds to variant rs9885672 [ dbSNP | Ensembl ].
VAR_022826
Natural varianti783 – 7831D → V in BTOP; partial loss of function. 1 Publication
VAR_071959
Natural varianti902 – 9021I → T.1 Publication
VAR_054836

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D87464 mRNA. Translation: BAA13403.2. Different initiation.
AK222732 mRNA. Translation: BAD96452.1.
AL133472, AL512303 Genomic DNA. Translation: CAI19669.1.
AL512303, AL133472 Genomic DNA. Translation: CAI42494.1.
BC041338 mRNA. Translation: AAH41338.1.
CCDSiCCDS5078.1.
RefSeqiNP_055660.1. NM_014845.5.
UniGeneiHs.529959.

Genome annotation databases

EnsembliENST00000230124; ENSP00000230124; ENSG00000112367.
GeneIDi9896.
KEGGihsa:9896.
UCSCiuc003ptt.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D87464 mRNA. Translation: BAA13403.2. Different initiation.
AK222732 mRNA. Translation: BAD96452.1.
AL133472, AL512303 Genomic DNA. Translation: CAI19669.1.
AL512303, AL133472 Genomic DNA. Translation: CAI42494.1.
BC041338 mRNA. Translation: AAH41338.1.
CCDSiCCDS5078.1.
RefSeqiNP_055660.1. NM_014845.5.
UniGeneiHs.529959.

3D structure databases

ProteinModelPortaliQ92562.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115225. 10 interactions.
IntActiQ92562. 1 interaction.
MINTiMINT-2812974.
STRINGi9606.ENSP00000230124.

PTM databases

DEPODiQ92562.
PhosphoSiteiQ92562.

Polymorphism and mutation databases

BioMutaiFIG4.
DMDMi2497367.

Proteomic databases

MaxQBiQ92562.
PaxDbiQ92562.
PRIDEiQ92562.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000230124; ENSP00000230124; ENSG00000112367.
GeneIDi9896.
KEGGihsa:9896.
UCSCiuc003ptt.2. human.

Organism-specific databases

CTDi9896.
GeneCardsiGC06P110012.
GeneReviewsiFIG4.
HGNCiHGNC:16873. FIG4.
HPAiCAB017823.
MIMi216340. phenotype.
609390. gene.
611228. phenotype.
612577. phenotype.
612691. phenotype.
neXtProtiNX_Q92562.
Orphaneti803. Amyotrophic lateral sclerosis.
208441. Bilateral parasagittal parieto-occipital polymicrogyria.
139515. Charcot-Marie-Tooth disease type 4J.
35689. Primary lateral sclerosis.
3472. Yunis-Varon syndrome.
PharmGKBiPA162388528.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG5329.
GeneTreeiENSGT00550000074943.
HOGENOMiHOG000168063.
InParanoidiQ92562.
OMAiRDFMPKN.
OrthoDBiEOG73FQM1.
PhylomeDBiQ92562.
TreeFamiTF105702.

Enzyme and pathway databases

BioCyciMetaCyc:HS12771-MONOMER.
ReactomeiREACT_120756. Synthesis of PIPs at the early endosome membrane.
REACT_120836. Synthesis of PIPs at the Golgi membrane.
REACT_120918. Synthesis of PIPs at the late endosome membrane.
REACT_325171. Synthesis of PIPs at the Golgi membrane.
REACT_330693. Synthesis of PIPs at the early endosome membrane.
REACT_337672. Synthesis of PIPs at the late endosome membrane.

Miscellaneous databases

GeneWikiiFig4.
GenomeRNAii9896.
NextBioi37311.
PROiQ92562.
SOURCEiSearch...

Gene expression databases

BgeeiQ92562.
CleanExiHS_FIG4.
ExpressionAtlasiQ92562. baseline and differential.
GenevestigatoriQ92562.

Family and domain databases

InterProiIPR002013. SAC_dom.
[Graphical view]
PfamiPF02383. Syja_N. 1 hit.
[Graphical view]
PROSITEiPS50275. SAC. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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."
    Nagase T., Seki N., Ishikawa K., Ohira M., Kawarabayasi Y., Ohara O., Tanaka A., Kotani H., Miyajima N., Nomura N.
    DNA Res. 3:321-329(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  2. Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
    Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ALA-654.
    Tissue: Colon.
  3. "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
    Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  5. "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., Ikonomov O.C., Fu Z., Ijuin T., Gruenberg J., Takenawa T., Shisheva A.
    J. Biol. Chem. 282:23878-23891(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, IDENTIFICATION IN THE PI(3,5)P2 REGULATORY COMPLEX, MUTAGENESIS OF ASP-488.
  6. "ArPIKfyve homomeric and heteromeric interactions scaffold PIKfyve and Sac3 in a complex to promote PIKfyve activity and functionality."
    Sbrissa D., Ikonomov O.C., Fenner H., Shisheva A.
    J. Mol. Biol. 384:766-779(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION IN THE PI(3,5)P2 REGULATORY COMPLEX.
  7. "Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J."
    Chow C.Y., Zhang Y., Dowling J.J., Jin N., Adamska M., Shiga K., Szigeti K., Shy M.E., Li J., Zhang X., Lupski J.R., Weisman L.S., Meisler M.H.
    Nature 448:68-72(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CMT4J THR-41.
  8. Cited for: VARIANT ALS11 TYR-53, VARIANTS GLY-48; GLY-388; VAL-411; CYS-647 AND THR-902.
  9. "Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P(2) phosphatase FIG4."
    Nicholson G., Lenk G.M., Reddel S.W., Grant A.E., Towne C.F., Ferguson C.J., Simpson E., Scheuerle A., Yasick M., Hoffman S., Blouin R., Brandt C., Coppola G., Biesecker L.G., Batish S.D., Meisler M.H.
    Brain 134:1959-1971(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CMT4J PRO-17; THR-41 AND LYS-302, CHARACTERIZATION OF VARIANT CMT4J LYS-302.
  10. "Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J."
    Lenk G.M., Ferguson C.J., Chow C.Y., Jin N., Jones J.M., Grant A.E., Zolov S.N., Winters J.J., Giger R.J., Dowling J.J., Weisman L.S., Meisler M.H.
    PLoS Genet. 7:E1002104-E1002104(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANT CMT4J THR-41.
  11. Cited for: VARIANTS YVS ASP-104 AND PRO-175, CHARACTERIZATION OF VARIANTS YVS ASP-104 AND PRO-175.
  12. Cited for: INVOLVEMENT IN BTOP, VARIANT BTOP VAL-783, CHARACTERIZATION OF VARIANT BTOP VAL-783.

Entry informationi

Entry nameiFIG4_HUMAN
AccessioniPrimary (citable) accession number: Q92562
Secondary accession number(s): Q53H49, Q5TCS6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: February 1, 1997
Last modified: April 29, 2015
This is version 122 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.