PMID- 10496078
OWN - NLM
STAT- MEDLINE
DCOM- 19991020
LR  - 20191210
IS  - 1434-5161 (Print)
IS  - 1434-5161 (Linking)
VI  - 44
IP  - 5
DP  - 1999
TI  - Complete cDNA sequence and genomic organization of a human pancreas-specific gene
      homologous to Caenorhabditis elegans sel-1.
PG  - 330-6
AB  - We have isolated the complete cDNA of a human SEL-1L gene, termed TSA305, that is
      abundantly expressed only in the pancreas. The cDNA contained an open reading
      frame of 2382 nucleotides, encoding a deduced protein of 794 amino acids whose
      predicted sequence showed 46% identity and 64% similarity with SEL-1 of
      Caenorhabditis elegans. SEL-1 is thought to be a negative regulator of the NOTCH,
      LIN-12, and GLP-1 receptors, which are required for differentiation and
      maturation of cells as well as cell-cell interactions during development in C.
      elegans. The degree of homology among these proteins suggests that the TSA305
      gene product may be a member of the SEL-1 family and therefore involved in
      downregulation of mammalian Notch signaling. Direct sequencing revealed at least 
      20 coding exons in TSA305. We localized the gene to chromosome bands 14q24.3-q31 
      by radiation hybrid (RH) mapping and fluorescence in situ hybridization (FISH).
      The IDDM11 locus has been mapped in this region, and TSA305 may represent a
      candidate gene for predisposition in some families whose insulin-dependent
      diabetes is not linked to the HLA locus.
FAU - Harada, Y
AU  - Harada Y
AD  - Otsuka GEN Research Institute, Otsuka Pharmaceutical Co., Ltd., Tokushima, Japan.
FAU - Ozaki, K
AU  - Ozaki K
FAU - Suzuki, M
AU  - Suzuki M
FAU - Fujiwara, T
AU  - Fujiwara T
FAU - Takahashi, E
AU  - Takahashi E
FAU - Nakamura, Y
AU  - Nakamura Y
FAU - Tanigami, A
AU  - Tanigami A
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 (Caenorhabditis elegans Proteins)
RN  - 0 (DNA, Complementary)
RN  - 0 (Helminth Proteins)
RN  - 0 (Intracellular Signaling Peptides and Proteins)
RN  - 0 (Membrane Proteins)
RN  - 0 (Proteins)
RN  - 0 (SEL-1 protein, C elegans)
RN  - 0 (SEL1L protein, human)
RN  - 0 (Sel1h protein, mouse)
RN  - EC 3.4.24.- (Metalloendopeptidases)
SB  - IM
MH  - Amino Acid Sequence
MH  - Animals
MH  - Base Sequence
MH  - Caenorhabditis elegans/*genetics
MH  - *Caenorhabditis elegans Proteins
MH  - DNA, Complementary/*genetics
MH  - Helminth Proteins/chemistry/*genetics
MH  - Humans
MH  - Intracellular Signaling Peptides and Proteins
MH  - Membrane Proteins/chemistry/*genetics
MH  - Metalloendopeptidases/chemistry
MH  - Mice
MH  - Molecular Sequence Data
MH  - Pancreas/*metabolism
MH  - Proteins/chemistry/*genetics
MH  - Rabbits
MH  - Sequence Alignment
MH  - Sequence Homology, Amino Acid
EDAT- 1999/09/25 00:00
MHDA- 1999/09/25 00:01
CRDT- 1999/09/25 00:00
PHST- 1999/09/25 00:00 [pubmed]
PHST- 1999/09/25 00:01 [medline]
PHST- 1999/09/25 00:00 [entrez]
AID - 10.1007/s100380050171 [doi]
PST - ppublish
SO  - J Hum Genet. 1999;44(5):330-6. doi: 10.1007/s100380050171.