ABCA 1

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ATP-binding cassette, sub-family A (ABC1), member 1
Properties of human protein
Mass / length primary structure 2261 amino acids
Secondary to quaternary structure multipass (15 TMS) membrane protein
Identifier
Gene name ABCA1
External IDs
Transporter classification
TCDB 3.A.1.211.1
designation ABC super family
Occurrence
Homology family ABC, subfamily A
Parent taxon Euteleostomi
Orthologue
human mouse
Entrez 19th 11303
Ensemble ENSG00000165029 ENSMUSG00000015243
UniProt O95477 Q8BPY1
Refseq (mRNA) NM_005502 NM_013454
Refseq (protein) NP_005493 NP_038482
Gene locus Chr 9: 0 - 0 Mb Chr 4: 0 - 0 Mb
PubMed search 19th 11303

ABCA 1 (member no. 1 of the human ABC transporter sub-family ABCA) is a human protein and gene . The protein is responsible for the transport of cholesterol and phospholipids from the inside of the cells of various peripheral cells such as endothelial cells and macrophages to the membrane surface, where they form so-called lipid domains from which high density lipoproteins (HDL) are formed. So it is a transport protein . Mutations in the ABCA1 gene have been described in Tangier disease and hereditary HDL deficiency.

The membrane protein encoded by this gene is a member of the ABC transporter superfamily . The ABC transporters move different molecules through extra- and intracellular membranes. The ABC genes are divided into seven different families (ABCA, MDR / TAP, MRP, ALD, OABP, GCN20, White). The members of the ABCA subfamily form the only ABC subfamily that is exclusively formed in multicellular eukaryotes. The general transport equation for ABC transporter efflux is:

Substrate (inside) + ATP ⇒ substrate (outside) + ADP + P i

So it is an active transport in which ATP is consumed. The phospholipid transfer protein (PLTP) is also indispensable for the function of ABCA1 .

See also

Individual evidence

  1. ↑ Oram JF: HDL apolipoproteins and ABCA1: partners in the removal of excess cellular cholesterol . In: Arterioscler. Thromb. Vasc. Biol . 23, No. 5, May 2003, pp. 720-7. doi : 10.1161 / 01.ATV.0000054662.44688.9A . PMID 12615680 .
  2. ↑ Entrez Gene: ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 . Retrieved October 7, 2010.
  3. ↑ TCDB : 3.A.1
  4. ↑ Oram JF, Wolfbauer G, Tang C, Davidson WS, Albers JJ: An amphipathic helical region of the N-terminal barrel of phospholipid transfer protein is critical for ABCA1-dependent cholesterol efflux . In: J. Biol. Chem. . 283, No. 17, April 2008, pp. 11541-9. doi : 10.1074 / jbc.M800117200 . PMID 18287097 .

further reading

  • Tam SP et al .: ABCA1 mediates high-affinity uptake of 25-hydroxycholesterol by membrane vesicles and rapid efflux of oxysterol by intact cells. in: Am J Physiol Cell Physiol. vol 291 3, pg. C490-502 (2006), PMID 16611739 .
  • Oram JF: ATP-binding cassette transporter A1 and cholesterol trafficking. in: Curr. Opin. Lipidol. vol 13 4 pg 373-81 (2003), PMID 12151852 .
  • Hong SH et al .: ABCA1 (Alabama): a novel variant associated with HDL deficiency and premature coronary artery disease. in: Atherosclerosis vol 164 2, pg. 245-50 (2003), PMID 12204794 .
  • Kozak M: Emerging links between initiation of translation and human diseases. in: Mamm. Genome vol 13 8, pg. 401-10 (2003), PMID 12226704 .
  • Joyce C et al .: Study of ABCA1 function in transgenic mice. in: Arterioscler. Thromb. Vasc. Biol. Vol 23 6, pg 965-71 (2004), PMID 12615681 .
  • Singaraja RR et al .: Efflux and atherosclerosis: the clinical and biochemical impact of variations in the ABCA1 gene. in: Arterioscler. Thromb. Vasc. Biol. Vol 23 8, pg 1322-32 (2004), PMID 12763760 .
  • Nofer JR et al .: Tangier disease: still more questions than answers. in: Cell. Mol. Life Sci. vol 62 19-20, pg. 2150-60 (2005), PMID 16235041 .
  • Yokoyama S: ABCA1 and biogenesis of HDL. in: J. Atheroscler. Thromb. vol 13 1, pg. 1-15, 2006, PMID 16505586 .
  • Schmitz G et al .: Molecular defects in the ABCA1 pathway affect platelet function. in: Pathophysiol. Haemost. Thromb. vol 35 1-2, pg 166-74 (2006), PMID 16855366 .