PMID- 10601732 OWN - NLM STAT- MEDLINE DCOM- 20000210 LR - 20191103 IS - 0945-053X (Print) IS - 0945-053X (Linking) VI - 18 IP - 5 DP - 1999 Oct TI - The human CILP gene: exon/intron organization and chromosomal mapping. PG - 445-54 AB - The human cDNA for cartilage intermediate layer protein (CILP) codes for a larger precursor protein that consists of CILP and a homologue to porcine Nucleotide pyrophosphohydrolase (NTPPHase) [Lorenzo et al. 1998a. J. Biol. Chem. 273, 23469-23475]. The human gene has now been isolated and characterized. Southern blot analysis indicated a single copy of the CILP gene in the human genome. The gene spans approximately 15.3 kbp of genomic DNA, and is organized in nine exons. The 5' flanking region contains a putative promoter region with a TATA-like box localized from -29 to -23 bp upstream of the transcription start site. Analysis of the putative promoter region revealed potentially cis-regulatory eukaryotic elements such as GATA-1, MyoD, MZF1, and CdxA. The protein coding region begins in exon 2 with the putative signal peptide. CILP is encoded from exon 3 to exon 9. In addition, exon 9 also codes for the entire NTPPHase homologue and contains the 3' untranslated region of the gene. All the introns follow the 'gt-ag' rule, except the last intron, intron 8, that belongs to the minor class of pre-mRNA introns that contain 'at-ac' at their 5' and 3' ends, respectively. The CILP gene was mapped to human chromosome 15q22. FAU - Lorenzo, P AU - Lorenzo P AD - Department of Cell and Molecular Biology, Section for Connective Tissue Biology, University of Lund, Sweden. FAU - Aman, P AU - Aman P FAU - Sommarin, Y AU - Sommarin Y FAU - Heinegard, D AU - Heinegard D LA - eng SI - GENBANK/AF035447 SI - GENBANK/AF035448 SI - GENBANK/AF035449 SI - GENBANK/AF035451 SI - GENBANK/AF035453 SI - GENBANK/AF035455 SI - GENBANK/AH008465 PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - Netherlands TA - Matrix Biol JT - Matrix biology : journal of the International Society for Matrix Biology JID - 9432592 RN - 0 (DNA Primers) RN - 0 (DNA, Complementary) RN - 0 (Extracellular Matrix Proteins) RN - 0 (Glycoproteins) RN - EC 3.6.1.- (CILP protein, human) RN - EC 3.6.1.- (Pyrophosphatases) SB - IM MH - Base Sequence MH - Chromosome Mapping MH - Chromosomes, Human, Pair 15/genetics MH - Cloning, Molecular MH - DNA Primers/genetics MH - DNA, Complementary/genetics MH - Exons MH - Extracellular Matrix Proteins/*genetics MH - Glycoproteins/*genetics MH - Humans MH - In Situ Hybridization, Fluorescence MH - Introns MH - Molecular Sequence Data MH - Promoter Regions, Genetic MH - *Pyrophosphatases EDAT- 1999/12/22 00:00 MHDA- 1999/12/22 00:01 CRDT- 1999/12/22 00:00 PHST- 1999/12/22 00:00 [pubmed] PHST- 1999/12/22 00:01 [medline] PHST- 1999/12/22 00:00 [entrez] AID - S0945-053X(99)00035-9 [pii] AID - 10.1016/s0945-053x(99)00035-9 [doi] PST - ppublish SO - Matrix Biol. 1999 Oct;18(5):445-54. doi: 10.1016/s0945-053x(99)00035-9.