Source:http://linkedlifedata.com/resource/pubmed/id/12620974
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
6
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| pubmed:dateCreated |
2003-3-6
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| pubmed:abstractText |
Autosomal-recessive polycystic kidney disease (ARPKD) is caused by mutation to a large gene, PKHD1, encoding a putative receptor protein, fibrocystin. We have identified, through analysis of human genomic sequence, a PKHD1 homolog, PKHDL1, in chromosome region 8q23. The PKHDL1 transcript of 13081 bp was amplified as 16 fragments and sequenced; the sequence of the murine ortholog, Pkhdl1 (chromosome region 15B3) was also determined. PKHDL1 contains 78 exons, covers a genomic region of approximately 168 kb and encodes a large protein, fibrocystin-L. Screening PKHDL1 in ARPKD patients with no PKHD1 mutations revealed several sequence variants but no clear mutations, making it unlikely that it is ARPKD-associated. Human fibrocystin-L is predicted to be a large receptor protein (4243 aa; 466 kDa) with a signal peptide, single transmembrane domain and short cytoplasmic tail. Fibrocystin-L is homologous to fibrocystin throughout most of the extracellular region with overall identity of 25.0% and similarity of 41.5%. Fibrocystin-L has extracellular domains similar to fibrocystin with 14 copies of the TIG domain and two regions of significant homology to the protein TMEM2. Genomic sequence analysis identified no other full-length fibrocystin homologs in humans, mice or other sequenced organisms. The Fugu fish has a fibrocystin-L ortholog but no fibrocystin, suggesting that the newly identified protein may be the ancestral form. PKHDL1 and Pkhdl1 are widely expressed at a low level in most tissues but only detected in blood-derived cell-lines. Low level expression was detected in many primary immune cell subtypes but up-regulated specifically in T lymphocytes, following activation signals, suggesting a role in cellular immunity.
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| pubmed:grant | |
| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:chemical | |
| pubmed:status |
MEDLINE
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| pubmed:month |
Mar
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| pubmed:issn |
0964-6906
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| pubmed:author | |
| pubmed:issnType |
Print
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| pubmed:day |
15
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| pubmed:volume |
12
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| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
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| pubmed:pagination |
685-98
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| pubmed:dateRevised |
2007-11-14
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| pubmed:meshHeading |
pubmed-meshheading:12620974-Amino Acid Sequence,
pubmed-meshheading:12620974-Animals,
pubmed-meshheading:12620974-Blotting, Northern,
pubmed-meshheading:12620974-Cell Lineage,
pubmed-meshheading:12620974-Chromosome Mapping,
pubmed-meshheading:12620974-Cloning, Molecular,
pubmed-meshheading:12620974-DNA, Complementary,
pubmed-meshheading:12620974-DNA Mutational Analysis,
pubmed-meshheading:12620974-Exons,
pubmed-meshheading:12620974-Humans,
pubmed-meshheading:12620974-Introns,
pubmed-meshheading:12620974-Lymphocyte Activation,
pubmed-meshheading:12620974-Mice,
pubmed-meshheading:12620974-Molecular Sequence Data,
pubmed-meshheading:12620974-Mutation,
pubmed-meshheading:12620974-Protein Conformation,
pubmed-meshheading:12620974-Protein Structure, Tertiary,
pubmed-meshheading:12620974-RNA,
pubmed-meshheading:12620974-Receptors, Cell Surface,
pubmed-meshheading:12620974-Sequence Analysis, DNA,
pubmed-meshheading:12620974-Sequence Homology, Amino Acid,
pubmed-meshheading:12620974-T-Lymphocytes,
pubmed-meshheading:12620974-Tissue Distribution,
pubmed-meshheading:12620974-Up-Regulation
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| pubmed:year |
2003
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| pubmed:articleTitle |
PKHDL1, a homolog of the autosomal recessive polycystic kidney disease gene, encodes a receptor with inducible T lymphocyte expression.
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| pubmed:affiliation |
Division of Nephrology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.
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| pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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