Pseudogene in the species Homo sapiens
ABCC13 |
---|
|
Identifiers |
---|
Aliases | ABCC13, C21orf73, PRED6, ABCC13P, ATP binding cassette subfamily C member 13 (pseudogene) |
---|
External IDs | OMIM: 608835; GeneCards: ABCC13; OMA:ABCC13 - orthologs |
---|
Gene location (Human) |
---|
![Chromosome 21 (human)](//upload.wikimedia.org/wikipedia/commons/thumb/c/c1/Ideogram_human_chromosome_21.svg/300px-Ideogram_human_chromosome_21.svg.png) | Chr. | Chromosome 21 (human)[1] |
---|
| Band | 21q11.2 | Start | 14,236,206 bp[1] |
---|
End | 14,362,754 bp[1] |
---|
|
Orthologs |
---|
Species | Human | Mouse |
---|
Entrez | | |
---|
Ensembl | | |
---|
UniProt | | |
---|
RefSeq (mRNA) | |
---|
NM_138726 NM_172024 NM_172025 NM_172026 |
| |
---|
RefSeq (protein) | | |
---|
Location (UCSC) | Chr 21: 14.24 – 14.36 Mb | n/a |
---|
PubMed search | [2] | n/a |
---|
|
Wikidata |
|
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.[3]
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.[3]
See also
- ATP-binding cassette transporter
- ABCC13+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000243064 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "ABCC13 ATP binding cassette subfamily C member 13 (pseudogene) [ Homo sapiens (human) ]". National Center for Biotechnology Information. Retrieved 11 August 2019.
Further reading
- Dean M, Annilo T (2005). "Evolution of the ATP-binding cassette (ABC) transporter superfamily in vertebrates". Annual Review of Genomics and Human Genetics. 6: 123–42. doi:10.1146/annurev.genom.6.080604.162122. PMID 16124856.
- Annilo T, Dean M (Jul 2004). "Degeneration of an ATP-binding cassette transporter gene, ABCC13, in different mammalian lineages". Genomics. 84 (1): 34–46. doi:10.1016/j.ygeno.2004.02.010. PMID 15203202.
- Hillman RT, Green RE, Brenner SE (2005). "An unappreciated role for RNA surveillance". Genome Biology. 5 (2): R8. doi:10.1186/gb-2004-5-2-r8. PMC 395752. PMID 14759258.
- Brun ME, Ruault M, Ventura M, Roizès G, De Sario A (Jul 2003). "Juxtacentromeric region of human chromosome 21: a boundary between centromeric heterochromatin and euchromatic chromosome arms". Gene. 312: 41–50. doi:10.1016/S0378-1119(03)00530-4. PMID 12909339.
- Yabuuchi H, Takayanagi S, Yoshinaga K, Taniguchi N, Aburatani H, Ishikawa T (Dec 2002). "ABCC13, an unusual truncated ABC transporter, is highly expressed in fetal human liver". Biochemical and Biophysical Research Communications. 299 (3): 410–7. doi:10.1016/S0006-291X(02)02658-X. PMID 12445816.
- Gardiner K, Slavov D, Bechtel L, Davisson M (Jun 2002). "Annotation of human chromosome 21 for relevance to Down syndrome: gene structure and expression analysis". Genomics. 79 (6): 833–43. doi:10.1006/geno.2002.6782. PMID 12036298.
- Allikmets R, Gerrard B, Hutchinson A, Dean M (Oct 1996). "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. doi:10.1093/hmg/5.10.1649. PMID 8894702.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
A | |
---|
B | |
---|
C | |
---|
D | |
---|
E | |
---|
F | |
---|
G | |
---|
see also ABC transporter disorders |
![Stub icon](//upload.wikimedia.org/wikipedia/commons/thumb/0/08/Beta-2_adrenergic_receptor.png/30px-Beta-2_adrenergic_receptor.png) | This membrane protein–related article is a stub. You can help Wikipedia by expanding it. |