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Q92562

- FIG4_HUMAN

UniProt

Q92562 - FIG4_HUMAN

Protein

Polyphosphoinositide phosphatase

Gene

FIG4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 116 (01 Oct 2014)
      Sequence version 1 (01 Feb 1997)
      Previous versions | rss
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    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

    1. phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity Source: Reactome
    2. phosphatidylinositol-3-phosphatase activity Source: Ensembl
    3. phosphatidylinositol-4-phosphate phosphatase activity Source: Ensembl
    4. protein binding Source: UniProtKB

    GO - Biological processi

    1. cell death Source: UniProtKB-KW
    2. locomotory behavior Source: Ensembl
    3. myelin assembly Source: Ensembl
    4. negative regulation of myelination Source: Ensembl
    5. neuron development Source: Ensembl
    6. phosphatidylinositol-3-phosphate biosynthetic process Source: GOC
    7. phosphatidylinositol biosynthetic process Source: Reactome
    8. phospholipid metabolic process Source: Reactome
    9. pigmentation Source: Ensembl
    10. positive regulation of neuron projection development Source: Ensembl
    11. small molecule metabolic process Source: Reactome
    12. vacuole organization Source: Ensembl

    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_198970. Synthesis of PIPs at the Golgi membrane.
    REACT_198972. Synthesis of PIPs at the late endosome membrane.
    REACT_198975. Synthesis of PIPs at the early 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: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:16873. FIG4.

    Subcellular locationi

    Endosome membrane 1 Publication
    Note: Localization requires VAC14 and PIKFYVE.

    GO - Cellular componenti

    1. early endosome membrane Source: Reactome
    2. endosome membrane Source: UniProtKB
    3. Golgi membrane Source: Reactome
    4. late endosome membrane Source: Reactome

    Keywords - Cellular componenti

    Endosome, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Charcot-Marie-Tooth disease 4J (CMT4J) [MIM:611228]: A 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 CMT4.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    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. 1 Publication
    Corresponds to variant rs121908287 [ dbSNP | Ensembl ].
    VAR_036974
    Amyotrophic lateral sclerosis 11 (ALS11) [MIM:612577]: A 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti53 – 531D → Y in ALS11. 1 Publication
    VAR_054832
    Yunis-Varon syndrome (YVS) [MIM:216340]: A 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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

    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.
    Orphaneti803. Amyotrophic lateral sclerosis.
    139515. Charcot-Marie-Tooth disease type 4J.
    35689. Primary lateral sclerosis.
    3472. Yunis-Varon syndrome.
    PharmGKBiPA162388528.

    PTM / Processingi

    Molecule processing

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

    Proteomic databases

    MaxQBiQ92562.
    PaxDbiQ92562.
    PRIDEiQ92562.

    PTM databases

    PhosphoSiteiQ92562.

    Expressioni

    Gene expression databases

    ArrayExpressiQ92562.
    BgeeiQ92562.
    CleanExiHS_FIG4.
    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. 3 interactions.
    IntActiQ92562. 1 interaction.
    MINTiMINT-2812974.
    STRINGi9606.ENSP00000230124.

    Structurei

    3D structure databases

    ProteinModelPortaliQ92562.
    SMRiQ92562. Positions 15-549.
    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.
    HOGENOMiHOG000168063.
    InParanoidiQ92562.
    OMAiRDFMPKN.
    OrthoDBiEOG73FQM1.
    PhylomeDBiQ92562.
    TreeFamiTF105702.

    Family and domain databases

    InterProiIPR002013. Syja_N.
    [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

    MPTAAAPIIS SVQKLVLYET RARYFLVGSN NAETKYRVLK IDRTEPKDLV    50
    IIDDRHVYTQ QEVRELLGRL DLGNRTKMGQ KGSSGLFRAV SAFGVVGFVR 100
    FLEGYYIVLI TKRRKMADIG GHAIYKVEDT NMIYIPNDSV RVTHPDEARY 150
    LRIFQNVDLS SNFYFSYSYD LSHSLQYNLT VLRMPLEMLK SEMTQNRQES 200
    FDIFEDEGLI TQGGSGVFGI CSEPYMKYVW NGELLDIIKS TVHRDWLLYI 250
    IHGFCGQSKL LIYGRPVYVT LIARRSSKFA GTRFLKRGAN CEGDVANEVE 300
    TEQILCDASV MSFTAGSYSS YVQVRGSVPL YWSQDISTMM PKPPITLDQA 350
    DPFAHVAALH FDQMFQRFGS PIIILNLVKE REKRKHERIL SEELVAAVTY 400
    LNQFLPPEHT IVYIPWDMAK YTKSKLCNVL DRLNVIAESV VKKTGFFVNR 450
    PDSYCSILRP DEKWNELGGC VIPTGRLQTG ILRTNCVDCL DRTNTAQFMV 500
    GKCALAYQLY SLGLIDKPNL QFDTDAVRLF EELYEDHGDT LSLQYGGSQL 550
    VHRVKTYRKI APWTQHSKDI MQTLSRYYSN AFSDADRQDS INLFLGVFHP 600
    TEGKPHLWEL PTDFYLHHKN TMRLLPTRRS YTYWWTPEVI KHLPLPYDEV 650
    ICAVNLKKLI VKKFHKYEEE IDIHNEFFRP YELSSFDDTF CLAMTSSARD 700
    FMPKTVGIDP SPFTVRKPDE TGKSVLGNKS NREEAVLQRK TAASAPPPPS 750
    EEAVSSSSED DSGTDREEEG SVSQRSTPVK MTDAGDSAKV TENVVQPMKE 800
    LYGINLSDGL SEEDFSIYSR FVQLGQSQHK QDKNSQQPCS RCSDGVIKLT 850
    PISAFSQDNI YEVQPPRVDR KSTEIFQAHI QASQGIMQPL GKEDSSMYRE 900
    YIRNRYL 907
    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.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti310 – 3101V → A in BAD96452. 1 PublicationCurated
    Sequence conflicti453 – 4531S → P in BAD96452. 1 PublicationCurated
    Sequence conflicti598 – 5981F → S in BAD96452. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    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. 1 Publication
    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 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 varianti902 – 9021I → T.1 Publication
    VAR_054836

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.

    Polymorphism databases

    DMDMi2497367.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS5078.1.
    RefSeqi NP_055660.1. NM_014845.5.
    UniGenei Hs.529959.

    3D structure databases

    ProteinModelPortali Q92562.
    SMRi Q92562. Positions 15-549.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115225. 3 interactions.
    IntActi Q92562. 1 interaction.
    MINTi MINT-2812974.
    STRINGi 9606.ENSP00000230124.

    PTM databases

    PhosphoSitei Q92562.

    Polymorphism databases

    DMDMi 2497367.

    Proteomic databases

    MaxQBi Q92562.
    PaxDbi Q92562.
    PRIDEi Q92562.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000230124 ; ENSP00000230124 ; ENSG00000112367 .
    GeneIDi 9896.
    KEGGi hsa:9896.
    UCSCi uc003ptt.2. human.

    Organism-specific databases

    CTDi 9896.
    GeneCardsi GC06P110012.
    GeneReviewsi FIG4.
    HGNCi HGNC:16873. FIG4.
    HPAi CAB017823.
    MIMi 216340. phenotype.
    609390. gene.
    611228. phenotype.
    612577. phenotype.
    neXtProti NX_Q92562.
    Orphaneti 803. Amyotrophic lateral sclerosis.
    139515. Charcot-Marie-Tooth disease type 4J.
    35689. Primary lateral sclerosis.
    3472. Yunis-Varon syndrome.
    PharmGKBi PA162388528.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5329.
    HOGENOMi HOG000168063.
    InParanoidi Q92562.
    OMAi RDFMPKN.
    OrthoDBi EOG73FQM1.
    PhylomeDBi Q92562.
    TreeFami TF105702.

    Enzyme and pathway databases

    BioCyci MetaCyc:HS12771-MONOMER.
    Reactomei REACT_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_198970. Synthesis of PIPs at the Golgi membrane.
    REACT_198972. Synthesis of PIPs at the late endosome membrane.
    REACT_198975. Synthesis of PIPs at the early endosome membrane.

    Miscellaneous databases

    GeneWikii Fig4.
    GenomeRNAii 9896.
    NextBioi 37311.
    PROi Q92562.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q92562.
    Bgeei Q92562.
    CleanExi HS_FIG4.
    Genevestigatori Q92562.

    Family and domain databases

    InterProi IPR002013. Syja_N.
    [Graphical view ]
    Pfami PF02383. Syja_N. 1 hit.
    [Graphical view ]
    PROSITEi PS50275. SAC. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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. "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.
    10. Cited for: VARIANTS YVS ASP-104 AND PRO-175, CHARACTERIZATION OF VARIANTS YVS ASP-104 AND PRO-175.

    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: October 1, 2014
    This is version 116 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