PMID- 10319588
OWN - NLM
STAT- MEDLINE
DCOM- 19990608
LR  - 20061115
IS  - 1434-5161 (Print)
IS  - 1434-5161 (Linking)
VI  - 44
IP  - 3
DP  - 1999
TI  - Genomic organization, mapping, and polymorphisms of the gene encoding human
      cartilage intermediate layer protein (CILP).
PG  - 203-5
AB  - The CILP gene encodes a proform of two polypeptides. One of them, cartilage
      intermediate layer protein (CILP), is a non-collagenous protein recently isolated
      from human articular cartilage. The other is homologous to a porcine nucleotide
      pyrophosphohydrolase (NTPPHase) whose enzymatic activity is highest in articular 
      tissue. The investigation reported here revealed that the CILP gene consists of
      nine exons spanning approximately 15 kb of genomic DNA on chromosome 15q22. We
      also report six single nucleotide variations in this gene; five of them cause
      amino acid changes and the most common of them substitutes isoleucine for
      threonine at codon 395.
FAU - Nakamura, I
AU  - Nakamura I
AD  - Laboratory of Molecular Medicine, University of Tokyo, Japan.
FAU - Okawa, A
AU  - Okawa A
FAU - Ikegawa, S
AU  - Ikegawa S
FAU - Takaoka, K
AU  - Takaoka K
FAU - Nakamura, Y
AU  - Nakamura Y
LA  - eng
SI  - GENBANK/AB019040
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 (Extracellular Matrix Proteins)
RN  - 0 (Glycoproteins)
RN  - 0 (Protein Precursors)
RN  - EC 3.6.1.- (CILP protein, human)
RN  - EC 3.6.1.- (Pyrophosphatases)
RN  - EC 3.6.1.9 (nucleotide pyrophosphatase)
SB  - IM
MH  - Cartilage, Articular/chemistry
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 15
MH  - Exons
MH  - Extracellular Matrix Proteins/*genetics
MH  - Glycoproteins/*genetics
MH  - Humans
MH  - Introns
MH  - Molecular Sequence Data
MH  - Point Mutation
MH  - Polymorphism, Genetic
MH  - Protein Precursors/*genetics
MH  - Pyrophosphatases/*genetics
EDAT- 1999/05/13 00:00
MHDA- 1999/05/13 00:01
CRDT- 1999/05/13 00:00
PHST- 1999/05/13 00:00 [pubmed]
PHST- 1999/05/13 00:01 [medline]
PHST- 1999/05/13 00:00 [entrez]
AID - 10.1007/s100380050143 [doi]
PST - ppublish
SO  - J Hum Genet. 1999;44(3):203-5. doi: 10.1007/s100380050143.