PMID- 10799318
OWN - NLM
STAT- MEDLINE
DCOM- 20000613
LR  - 20171213
IS  - 0006-291X (Print)
IS  - 0006-291X (Linking)
VI  - 271
IP  - 2
DP  - 2000 May 10
TI  - Analysis of hABC1 gene 5' end: additional peptide sequence, promoter region, and 
      four polymorphisms.
PG  - 451-5
AB  - Evidence linking mutations in ATP-binding-cassette transporter gene 1 (ABC1) to 
      Tangier disease suggests it functions in the active transport of free cholesterol 
      out of cells. Since its mRNA level is regulated in response to cellular 
      cholesterol stores it is of interest to explore its promoter response elements, 
      and to investigate polymorphisms for their contributions to the prevalence of low 
      levels of HDL in the population that promotes premature coronary heart disease. 
      Investigation of the 5' end of the gene by 5' RACE analysis revealed 455 
      nucleotides additional to published sequences, and predicts another 60 amino acid 
      N-terminal residues, resulting in a 2261-residue protein. Protein sequence 
      analysis predicts a membrane-spanning region and possible signal peptide. The 5' 
      flanking region was located by a Human Research Project BLAST search. This region 
      contains regulatory elements that potentially control ABC1 gene expression. In 
      addition to numerous SP1 binding sites there are four putative sterol regulatory 
      elements (SREs). Our studies uncovered three single nucleotide substitution 
      polymorphisms, one in the promoter region and two in the 5' untranslated region 
      (5'UTR), plus an insertion/deletion polymorphism.
CI  - Copyright 2000 Academic Press.
FAU - Pullinger, C R
AU  - Pullinger CR
AD  - Department of Physiology, University of California, San Francisco, California, 
      USA. clivep@itsa.ucsf.edu
FAU - Hakamata, H
AU  - Hakamata H
FAU - Duchateau, P N
AU  - Duchateau PN
FAU - Eng, C
AU  - Eng C
FAU - Aouizerat, B E
AU  - Aouizerat BE
FAU - Cho, M H
AU  - Cho MH
FAU - Fielding, C J
AU  - Fielding CJ
FAU - Kane, J P
AU  - Kane JP
LA  - eng
GR  - HL 07731/HL/NHLBI NIH HHS/United States
GR  - HL 31210/HL/NHLBI NIH HHS/United States
GR  - HL 57976/HL/NHLBI NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Biochem Biophys Res Commun
JT  - Biochemical and biophysical research communications
JID - 0372516
RN  - 0 (5' Untranslated Regions)
RN  - 0 (ABCA1 protein, human)
RN  - 0 (ATP Binding Cassette Transporter 1)
RN  - 0 (ATP-Binding Cassette Transporters)
RN  - 0 (Glycoproteins)
RN  - 0 (Lipoproteins)
SB  - IM
MH  - 5' Untranslated Regions
MH  - ATP Binding Cassette Transporter 1
MH  - ATP-Binding Cassette Transporters/chemistry/*genetics
MH  - Amino Acid Sequence
MH  - Animals
MH  - Base Sequence
MH  - Exons
MH  - Glycoproteins/chemistry/*genetics
MH  - Humans
MH  - Lipoproteins/blood
MH  - Mice
MH  - Molecular Sequence Data
MH  - *Polymorphism, Genetic
MH  - *Promoter Regions, Genetic
MH  - Regulatory Sequences, Nucleic Acid
MH  - Sequence Homology, Amino Acid
EDAT- 2000/05/09 09:00
MHDA- 2000/06/17 09:00
CRDT- 2000/05/09 09:00
PHST- 2000/05/09 09:00 [pubmed]
PHST- 2000/06/17 09:00 [medline]
PHST- 2000/05/09 09:00 [entrez]
AID - S0006-291X(00)92652-4 [pii]
AID - 10.1006/bbrc.2000.2652 [doi]
PST - ppublish
SO  - Biochem Biophys Res Commun. 2000 May 10;271(2):451-5. doi: 
      10.1006/bbrc.2000.2652.