ABCC13

Pseudogene in the species Homo sapiens
ABCC13
Identifiers
AliasesABCC13, C21orf73, PRED6, ABCC13P, ATP binding cassette subfamily C member 13 (pseudogene)
External IDsOMIM: 608835; GeneCards: ABCC13; OMA:ABCC13 - orthologs
Gene location (Human)
Chromosome 21 (human)
Chr.Chromosome 21 (human)[1]
Chromosome 21 (human)
Genomic location for ABCC13
Genomic location for ABCC13
Band21q11.2Start14,236,206 bp[1]
End14,362,754 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

150000

n/a

Ensembl

ENSG00000243064

n/a

UniProt

n
a

n/a

RefSeq (mRNA)

NM_138726
NM_172024
NM_172025
NM_172026

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)Chr 21: 14.24 – 14.36 Mbn/a
PubMed search[2]n/a
Wikidata
View/Edit Human

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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000243064 – Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ 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.

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