Alternative titles; symbols
HGNC Approved Gene Symbol: ART1
Cytogenetic location: 11p15.4 Genomic coordinates (GRCh38): 11:3,645,128-3,664,416 (from NCBI)
ADP-ribosylation is a reversible posttranslational modification used to regulate protein function. ADP-ribosyltransferases, such as ART1, transfer ADP-ribose from NAD+ to the target protein, and ADP-ribosylhydrolases (see PARG; 603501) reverse the reaction (Glowacki et al., 2002).
NAD:arginine ADP-ribosyltransferases catalyze the ADP-ribosylation of arginine residues in proteins. Mono-ADP-ribosylation is a posttranslational modification of proteins that is interfered with by a variety of bacterial toxins including cholera, pertussis, and heat-labile enterotoxins of E. coli. Okazaki et al. (1994) reported the nucleic acid and amino acid sequences of a human skeletal muscle ADP-ribosyltransferase. The human polypeptide shares 81.3% identity with rabbit skeletal muscle transferase. The 2 amino acid sequences predict predominantly hydrophobic N- and C-terminal regions, which are characteristic of glycosylphosphatidylinositol (GPI)-anchored proteins.
Glowacki et al. (2002) determined that the ART1 gene contains 5 exons and spans at least 7.9 kb. The first exon is untranslated.
By interspecific backcross analysis, Koch-Nolte et al. (1996) mapped the mouse gene for the muscle transferase, Art1, to mouse chromosome 7. They assigned the human homolog to chromosome 11 using a monochromosomal hybrid panel and to 11p15 with a series of chromosome 11 deletion hybrids.
Pseudogenes
RT6 is a T-cell membrane protein that attracted attention because a defect in RT6 expression is associated with susceptibility to autoimmune type I diabetes in DP-BB rats and NOD mice; see 125852. In the mouse, the RT6 gene maps to chromosome 7, within 4 cM of the Hbb gene and within 6 cM of the Tyr gene (Prochazka et al., 1991). Using PCR screening of human/rodent somatic cell hybrids and fluorescence in situ hybridization, Koch-Nolte et al. (1993) mapped the human RT6 homolog to 11q13, centromeric to TYR (606933) and FGF4 (164980). (RT6 derives its name from the fact that it was initially a rat T-cell alloantigenic system.) Haag et al. (1994) cloned and sequenced the human and chimpanzee homologs of RT6 and found that in-frame stop codons preclude expression of the genes in these 2 species. This pseudogene was previously designated ART1P but was changed to ART2P at the International Workshop on the Biological Significance of Mono-ADP-Ribosylation in Animal Tissues, Hamburg, May 19-23, 1996 (Koch-Nolte et al., 1996).
The designation for this gene was changed from ART2 to ART1 at the International Workshop on the Biological Significance of Mono-ADP-Ribosylation in Animal Tissues, Hamburg, May 19-23, 1996 (Koch-Nolte et al., 1996).
Glowacki, G., Braren, R., Firner, K., Nissen, M., Kuhl, M., Reche, P., Bazan, F., Cetkovic-Cvrlje, M., Leiter, E., Haag, F., Koch-Nolte, F. The family of toxin-related ecto-ADP-ribosyltransferases in humans and the mouse. Protein Sci. 11: 1657-1670, 2002. [PubMed: 12070318] [Full Text: https://doi.org/10.1110/ps.0200602]
Haag, F., Koch-Nolte, F., Kuhl, M., Lorenzen, S., Thiele, H.-G. Premature stop codons inactivate the RT6 genes of the human and chimpanzee species. J. Molec. Biol. 243: 537-546, 1994. [PubMed: 7966280] [Full Text: https://doi.org/10.1006/jmbi.1994.1680]
Koch-Nolte, F., Haag, F., Kuhl, M., van Heyningen, V., Hoovers, J., Grzeschik, K.-H., Singh, S., Thiele, H.-G. Assignment of the human RT6 gene to 11q13 by PCR screening of somatic cell hybrids and in situ hybridization. Genomics 18: 404-406, 1993. [PubMed: 8288246] [Full Text: https://doi.org/10.1006/geno.1993.1484]
Koch-Nolte, F., Kuhl, M., Haag, F., Cetkovic-Cvrlje, M., Leiter, E. H., Thiele, H.-G. Assignment of the human and mouse genes for muscle ecto mono (ADPribosyl)transferase to a conserved linkage group on human chromosome 11p15 and mouse chromosome 7. Genomics 36: 215-216, 1996. [PubMed: 8812442] [Full Text: https://doi.org/10.1006/geno.1996.0451]
Okazaki, I. J., Zolkiewska, A., Nightingale, M. S., Moss, J. Immunological and structural conservation of mammalian skeletal muscle glycosylphosphatidylinositol-linked ADP-ribosyltransferases. Biochemistry 33: 12828-12836, 1994. [PubMed: 7947688] [Full Text: https://doi.org/10.1021/bi00209a014]
Prochazka, M., Gaskins, H. R., Leiter, E. H., Koch-Nolte, F., Haag, F., Thiele, H.-G. Chromosomal localization, DNA polymorphism and expression of Rt-6, the mouse homologue of rat T-lymphocyte differentiation marker RT6. Immunogenetics 33: 152-156, 1991. [PubMed: 1671854] [Full Text: https://doi.org/10.1007/BF00210829]