ABCC13 explained
Putative ATP-binding cassette transporter sub-family C member 13 is a protein that is not present in humans. In humans, ABCC13 is a pseudogene.[1]
Function
This gene is a member of the superfamily of genes encoding ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This family member is part of the MRP subfamily, which is involved in multi-drug resistance, but the human locus is now thought to be a pseudogene incapable of encoding a functional ABC protein. Alternative splicing results in multiple transcript variants; however, not all variants have been fully described.[1]
See also
Further reading
- Dean M, Annilo T . Evolution of the ATP-binding cassette (ABC) transporter superfamily in vertebrates . Annual Review of Genomics and Human Genetics . 6 . 123–42 . 2005 . 16124856 . 10.1146/annurev.genom.6.080604.162122 .
- Annilo T, Dean M . Degeneration of an ATP-binding cassette transporter gene, ABCC13, in different mammalian lineages . Genomics . 84 . 1 . 34–46 . Jul 2004 . 15203202 . 10.1016/j.ygeno.2004.02.010 .
- Hillman RT, Green RE, Brenner SE . An unappreciated role for RNA surveillance . Genome Biology . 5 . 2 . R8 . 2005 . 14759258 . 395752 . 10.1186/gb-2004-5-2-r8 . free .
- Brun ME, Ruault M, Ventura M, Roizès G, De Sario A . Juxtacentromeric region of human chromosome 21: a boundary between centromeric heterochromatin and euchromatic chromosome arms . Gene . 312 . 41–50 . Jul 2003 . 12909339 . 10.1016/S0378-1119(03)00530-4 .
- Yabuuchi H, Takayanagi S, Yoshinaga K, Taniguchi N, Aburatani H, Ishikawa T . ABCC13, an unusual truncated ABC transporter, is highly expressed in fetal human liver . Biochemical and Biophysical Research Communications . 299 . 3 . 410–7 . Dec 2002 . 12445816 . 10.1016/S0006-291X(02)02658-X .
- Gardiner K, Slavov D, Bechtel L, Davisson M . Annotation of human chromosome 21 for relevance to Down syndrome: gene structure and expression analysis . Genomics . 79 . 6 . 833–43 . Jun 2002 . 12036298 . 10.1006/geno.2002.6782 .
- Allikmets R, Gerrard B, Hutchinson A, Dean M . Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the expressed sequence tags database . Human Molecular Genetics . 5 . 10 . 1649–55 . Oct 1996 . 8894702 . 10.1093/hmg/5.10.1649 . free .
Notes and References
- Web site: ABCC13 ATP binding cassette subfamily C member 13 (pseudogene) [Homo sapiens (human) ]]. National Center for Biotechnology Information. 11 August 2019.