title: Genomic organization of the DCTN1-SLC4A5 locus encoding both NBC4 and p150(Glued).
abstract: In eukaryotes, it is rare for a single gene to encode two functionally unrelated proteins. p150(Glued) is a component of the dynactin heteromultimeric complex of proteins which is required for dynein-mediated vesicle and organelle transport by microtubules. NBC4 is an electrogenic sodium bicarbonate cotransporter, which regulates intracellular pH. Here we report that NBC4 and p150(Glued) are encoded by the same locus, DCTN1-SLC4A5. We have characterized the genomic organization of the human DCTN1-SLC4A5 locus which spans approximately 230 kilobases on chromosome 2p13 and contains 66 exons. This information should allow the study of potential genomic alterations of DCTN1-SLC4A5 in patients with diseases mapping to this genomic region.
authors.affiliation: Division of Nephrology, UCLA School of Medicine, Los Angeles, CA 90095, USA. Apushkin@mednet.ucla.edu
authors.forename: A
authors.initials: A
authors.lastname: Pushkin
authors.forename: N
authors.initials: N
authors.lastname: Abuladze
authors.forename: D
authors.initials: D
authors.lastname: Newman
authors.forename: S
authors.initials: S
authors.lastname: Tatishchev
authors.forename: I
authors.initials: I
authors.lastname: Kurtz
mesh_terms: D020121:5' Untranslated Regions / Q000235:genetics; D001483:Base Sequence; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D000072159:Dynactin Complex; D005091:Exons / Q000235:genetics; D006801:Humans; D007438:Introns / Q000235:genetics; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D027982:Sodium-Bicarbonate Symporters / Q000235:genetics*; D014158:Transcription, Genetic / Q000235:genetics
chemical_list: D020121:5' Untranslated Regions; C000606360:DCTN1 protein, human; D000072159:Dynactin Complex; D008869:Microtubule-Associated Proteins; C422023:SLC4A5 protein, human; D027982:Sodium-Bicarbonate Symporters