title: Characterization of a novel human putative mitochondrial transporter homologous to the yeast mitochondrial RNA splicing proteins 3 and 4.
abstract: We report here a novel human gene, hMRS3/4, encoding a putative mitochondrial transporter structurally and functionally homologous to the yeast mitochondrial RNA splicing proteins 3 and 4. These proteins belong to the family of mitochondrial carrier proteins (MCF) and are likely to function as solute carriers. hMRS3/4 spans approximately 10 kb of genomic DNA on chromosome 10q24 and consists of four exons that encode a 364-aa protein with six transmembrane domains. A putative splice variant, encoding a 177-aa protein with three transmembrane domains, was also identified. hMRS3/4 has a well-conserved signature sequence of MCF and is targeted into the mitochondria. When expressed in yeast, hMRS3/4 efficiently restores the mitochondrial functions in mrs3(o)mrs4(o) knock-out mutants. Ubiquitous expression in human tissues and a well-conserved structure and function suggest an important role for hMRS3/4 in human cells.
authors: Department of Molecular Medicine, CMM, Karolinska Hospital, Stockholm, Sweden. fangyuan.li@cmm.ki.se
authors: F Y
authors: FY
authors: Li
authors: K
authors: K
authors: Nikali
authors: J
authors: J
authors: Gregan
authors: I
authors: I
authors: Leibiger
authors: B
authors: B
authors: Leibiger
authors: R
authors: R
authors: Schweyen
authors: C
authors: C
authors: Larsson
authors: A
authors: A
authors: Suomalainen
mesh_terms: D017398:Alternative Splicing; D000595:Amino Acid Sequence; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics* / Q000378:metabolism; D027682:Cation Transport Proteins; D002874:Chromosome Mapping; D002879:Chromosomes, Human, Pair 10; D018076:DNA, Complementary; D005656:Fungal Proteins / Q000235:genetics; D020869:Gene Expression Profiling; D006801:Humans; D026901:Membrane Transport Proteins; D008928:Mitochondria / Q000378:metabolism*; D024101:Mitochondrial Proteins; D008969:Molecular Sequence Data; D016296:Mutagenesis; D017246:Ophthalmoplegia, Chronic Progressive External / Q000235:genetics; D012326:RNA Splicing; D012097:Repressor Proteins; D012441:Saccharomyces cerevisiae / Q000235:genetics; D029701:Saccharomyces cerevisiae Proteins; D020754:Spinocerebellar Ataxias / Q000235:genetics; D014018:Tissue Distribution; D014162:Transfection
chemical_list: D002352:Carrier Proteins; D027682:Cation Transport Proteins; D018076:DNA, Complementary; D005656:Fungal Proteins; C066985:MRS3 protein, S cerevisiae; C066986:MRS4 protein, S cerevisiae; D026901:Membrane Transport Proteins; D024101:Mitochondrial Proteins; D012097:Repressor Proteins; C425684:SLC25A28 protein, human; D029701:Saccharomyces cerevisiae Proteins