title: Pore membrane and/or filament interacting like protein 1 (POMFIL1) is predominantly expressed in the nervous system and encodes different protein isoforms.
abstract: We have isolated and characterized a novel differentially spliced gene predominantly expressed in the nervous system, which encodes protein isoforms with significant homology to the alpha-actinin protein superfamily, the Caenorhabditis elegans UNC-53 protein and weak homology to the nuclear membrane protein POM121. Similar to POM121 the primary structures show a hydrophobic region that is likely to form one or more adjacent transmembrane segment(s). Indirect immunofluorescence with antibodies against a synthetic peptide gave staining of the nucleus. Target experiments with EGFP (enhanced green fluorescent protein)-fusion proteins confirmed the nuclear localization. Two further members of this gene family could be isolated. All three pore membrane and/or filament interacting like (POMFIL) genes are differentially expressed in neuronal tumor cell lines. In 40% of tested primary neuroblastomas expression of POMFIL1 is strongly reduced and after brain injury POMFIL1 protein expression is upregulated, indicating that POMFIL1 is involved in the process of neuron growth and regeneration, as well as in neural tumorigenesis.
authors.affiliation: German Cancer Research Center, Division of Molecular Genomeanalysis, Im Neuenheimer Feld 280, Heidelberg, Germany.
authors.forename: Johannes F
authors.initials: JF
authors.lastname: Coy
authors.forename: Stefan
authors.initials: S
authors.lastname: Wiemann
authors.forename: Ingo
authors.initials: I
authors.lastname: Bechmann
authors.forename: Dietmar
authors.initials: D
authors.lastname: Bächner
authors.forename: Robert
authors.initials: R
authors.lastname: Nitsch
authors.forename: Oliver
authors.initials: O
authors.lastname: Kretz
authors.forename: Holger
authors.initials: H
authors.lastname: Christiansen
authors.forename: Annemarie
authors.initials: A
authors.lastname: Poustka
mesh_terms: D017398:Alternative Splicing; D000595:Amino Acid Sequence; D000818:Animals; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D004622:Embryo, Mammalian / Q000378:metabolism; D005260:Female; D015870:Gene Expression; D018507:Gene Expression Regulation, Developmental; D006801:Humans; D057927:Hydrophobic and Hydrophilic Interactions; D007150:Immunohistochemistry; D017403:In Situ Hybridization; D008565:Membrane Proteins / Q000737:chemistry / Q000235:genetics*; D051379:Mice; D016253:Microscopy, Immunoelectron; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000737:chemistry / Q000235:genetics*; D009420:Nervous System / Q000196:embryology / Q000378:metabolism*; D009685:Nuclear Envelope / Q000378:metabolism / Q000648:ultrastructure; D020033:Protein Isoforms / Q000737:chemistry / Q000235:genetics; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid; D014158:Transcription, Genetic; D014407:Tumor Cells, Cultured / Q000378:metabolism; D020298:U937 Cells
chemical_list: D008565:Membrane Proteins; C464453:NAV3 protein, human; D009419:Nerve Tissue Proteins; D020033:Protein Isoforms