PMID- 10570913
OWN - NLM
STAT- MEDLINE
DCOM- 20000127
LR  - 20061115
IS  - 1434-5161 (Print)
IS  - 1434-5161 (Linking)
VI  - 44
IP  - 6
DP  - 1999
TI  - Genomic structure and chromosomal mapping of the human sterol regulatory element 
      binding protein (SREBP) cleavage-activating protein (SCAP) gene.
PG  - 402-7
AB  - Sterol regulatory element binding protein (SREBP) cleavage-activating protein
      (SCAP) is a central regulator of lipid synthesis and uptake in mammalian cells.
      The entire genomic structure of the human SCAP gene was cloned in a 110-kb region
      covered by overlapping genomic clones. The SCAP gene was localized to chromosome 
      3p21.3 by fluorescence in situ hybridization. The human SCAP gene is over 30 kb
      in length and contains 23 exons and 22 introns. The transcription initiation site
      within exon 1 is separate from the initiation codon coded in exon 2. Analysis of 
      exon/intron structure revealed that the gene consists of a mosaic of exons
      encoding functional protein domains. Exon 1 encodes the 5' non-coding region.
      Exons 2, 3, 7, 8, 9, 10, 11, 13, and 15, respectively, encode each of the eight
      transmembrane regions. Of these, exons 7-11 encode the sterol-sensing domain.
      Exons 15-23 encode the hydrophilic carboxyl-terminal domains containing four
      copies of a motif called the Trp-Asp (WD) repeats that interact with and regulate
      SREBP and the site-1 protease. Sequence analysis of the 5'-flanking region showed
      that it comprised a high G/C-rich region and contained adipocyte determination
      and differentiation-dependent factor 1 (ADD1)/SREBP-1 binding sites in addition
      to Sp1 and AP2 sites. This suggests that SCAP gene expression is under the
      control of SREBP-1, a key regulator of the expression of genes essential for
      intracellular lipid metabolism. Our data establish the basis of investigation for
      molecular variants in this gene that may result in alterations in plasma
      lipoprotein levels and/or derangement of intracellular lipid metabolism.
FAU - Nakajima, T
AU  - Nakajima T
AD  - Department of Molecular Biology, Nippon Medical School, Kawasaki, Japan.
FAU - Hamakubo, T
AU  - Hamakubo T
FAU - Kodama, T
AU  - Kodama T
FAU - Inazawa, J
AU  - Inazawa J
FAU - Emi, M
AU  - Emi M
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - J Hum Genet
JT  - Journal of human genetics
JID - 9808008
RN  - 0 (CCAAT-Enhancer-Binding Proteins)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (Intracellular Signaling Peptides and Proteins)
RN  - 0 (Membrane Proteins)
RN  - 0 (Nuclear Proteins)
RN  - 0 (SREBF1 protein, human)
RN  - 0 (SREBP cleavage-activating protein)
RN  - 0 (Sterol Regulatory Element Binding Protein 1)
RN  - 0 (Transcription Factors)
SB  - IM
MH  - Base Sequence
MH  - *CCAAT-Enhancer-Binding Proteins
MH  - *Chromosome Mapping
MH  - Chromosomes, Human, Pair 3/*genetics
MH  - DNA-Binding Proteins/metabolism
MH  - Humans
MH  - Intracellular Signaling Peptides and Proteins
MH  - Membrane Proteins/*genetics
MH  - Molecular Sequence Data
MH  - Nuclear Proteins/metabolism
MH  - Sterol Regulatory Element Binding Protein 1
MH  - *Transcription Factors
EDAT- 1999/11/26 00:00
MHDA- 1999/11/26 00:01
CRDT- 1999/11/26 00:00
PHST- 1999/11/26 00:00 [pubmed]
PHST- 1999/11/26 00:01 [medline]
PHST- 1999/11/26 00:00 [entrez]
AID - 10.1007/s100380050187 [doi]
PST - ppublish
SO  - J Hum Genet. 1999;44(6):402-7. doi: 10.1007/s100380050187.