ATP-binding cassette, sub-family A (ABC1), member 1

Größe 2261 Aminosäuren
Struktur multipass (15 TMS) Membranprotein
Gen-Name ABCA1
Externe IDs OMIM600046 UniProtO95477   MGI99607
TCDB 3.A.1.211.1
Bezeichnung ABC Superfamilie
Homologie-Familie ABC, Subfamily A
Übergeordnetes Taxon Euteleostomi
Mensch Maus
Entrez 19 11303
Ensembl ENSG00000165029 ENSMUSG00000015243
UniProt O95477 Q8BPY1
Refseq (mRNA) NM_005502 NM_013454
Refseq (Protein) NP_005493 NP_038482
Genlocus Chr 9: 0 - 0 Mb Chr 4: 0 - 0 Mb
PubMed Suche [1] [2]

ABCA 1 (Mitglied Nr. 1 der menschlichen ABC-Transporter sub-Familie ABCA) ist ein menschliches Protein und Gen. Das Protein ist für den Transport von Cholesterin und Phospholipiden aus dem Zellinneren von Makrophagen an die Membranoberfläche verantwortlich, wo diese so genannte Lipid-Domänen bilden, aus denen High Density Lipoproteine (HDL) entstehen. Es handelt sich also um ein Transportprotein. Mutationen des ABCA1-Gens wurden im Falle der Tangier-Krankheit und des erblichen HDL-Mangels beschrieben.[1][2]

Das von diesem Gen codierte Membranprotein ist ein Mitglied der Superfamilie der ABC-Transporter. Die ABC Transporter bewegen verschiedene Moleküle durch extra- und intracelluläre Membrane. Die ABC Gene werden in sieben verschiedene Familien unterteilt (ABCA, MDR/TAP, MRP, ALD, OABP, GCN20, White). Die Mitglieder der ABCA Subfamilie bilden die einzige ABC Subfamilie, die ausschließlich in multizellulären Eukaryoten gebildet werden. Die allgemeine Transportgleichung für ABC-Transporter-Efflux lautet:[3]

Substrat (innen) + ATP ⇒ Substrat (außen) + ADP + Pi

Es handelt sich also um aktiven Transport, bei dem ATP verbraucht wird. Für die Funktion von ABCA1 unentbehrlich ist außerdem das Phospholipid-Transferprotein (PLTP).[4]

Siehe auch


  1. Oram JF: HDL apolipoproteins and ABCA1: partners in the removal of excess cellular cholesterol. In: Arterioscler. Thromb. Vasc. Biol.. 23, Nr. 5, May 2003, S. 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.
  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, Nr. 17, April 2008, S. 11541–9. doi:10.1074/jbc.M800117200. PMID 18287097

Weiterführende Literatur

  • 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 etal: 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 |year= 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.

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