title: Identification and expression analysis of C3orf1, a novel human gene homologous to the Drosophila RP140-upstream gene.
abstract: We have isolated C3orf1, a novel gene on human chromosome 3 showing homology to the Drosophila RP140-upstream gene. When mutated, RP140-upstream causes lethality in flies through an unknown mechanism, perhaps by interfering with transcription of the RP140 RNA polymerase subunit. The human C3orf1 gene encodes a predicted membrane protein of 32.2 kDa with four transmembrane domains without any other known motifs. Northern blot analysis showed generalized expression of C3orf1, enhanced in heart and skeletal muscle. EST database searching revealed the existence of a homologue gene in mouse. Thus, the C3orf1 gene is conserved and may perform an essential function in all tissues in mammals.
authors.affiliation: Medical and Molecular Genetics Center, Institut de Recerca Oncològica, Hospital Duran i Reynals, Barcelona, Spain.
authors.forename: M
authors.initials: M
authors.lastname: Escarceller
authors.forename: R
authors.initials: R
authors.lastname: Pluvinet
authors.forename: L
authors.initials: L
authors.lastname: Sumoy
authors.forename: X
authors.initials: X
authors.lastname: Estivill
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3; D017124:Conserved Sequence; D012321:DNA-Directed RNA Polymerases / Q000235:genetics; D004330:Drosophila / Q000235:genetics*; D005260:Female; D006801:Humans; D008565:Membrane Proteins / Q000737:chemistry / Q000235:genetics*; D051379:Mice; D033681:Mitochondrial Membrane Transport Proteins; D000090622:Mitochondrial Precursor Protein Import Complex Proteins; D008969:Molecular Sequence Data; D009928:Organ Specificity; D011247:Pregnancy; D021122:Protein Subunits; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid
chemical_list: D008565:Membrane Proteins; D033681:Mitochondrial Membrane Transport Proteins; D000090622:Mitochondrial Precursor Protein Import Complex Proteins; D021122:Protein Subunits; C421265:TIMMDC1 protein, human; D012321:DNA-Directed RNA Polymerases