GPD1L: Difference between revisions
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==Overview== | |||
'''GPD1L''' is a human [[gene]].<ref name="pmid7788527">{{cite journal | author = Nagase T, Miyajima N, Tanaka A, Sazuka T, Seki N, Sato S, Tabata S, Ishikawa K, Kawarabayasi Y, Kotani H | title = Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1 | journal = DNA Res. | volume = 2 | issue = 1 | pages = 37–43 | year = 1995 | pmid = 7788527 | doi = 10.1093/dnares/2.1.37 | url = }}</ref> The [[protein]] encoded by this gene contains a [[glycerol-3-phosphate dehydrogenase (NAD+)]] motif and shares 72% sequence identity with [[glycerol-3-phosphate dehydrogenase|GPD1]].<ref name="pmid7788527"/> | '''GPD1L''' is a human [[gene]].<ref name="pmid7788527">{{cite journal | author = Nagase T, Miyajima N, Tanaka A, Sazuka T, Seki N, Sato S, Tabata S, Ishikawa K, Kawarabayasi Y, Kotani H | title = Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1 | journal = DNA Res. | volume = 2 | issue = 1 | pages = 37–43 | year = 1995 | pmid = 7788527 | doi = 10.1093/dnares/2.1.37 | url = }}</ref> The [[protein]] encoded by this gene contains a [[glycerol-3-phosphate dehydrogenase (NAD+)]] motif and shares 72% sequence identity with [[glycerol-3-phosphate dehydrogenase|GPD1]].<ref name="pmid7788527"/> | ||
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==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
[[Category:Genetics]] | |||
Revision as of 10:48, 19 March 2009
| glycerol-3-phosphate dehydrogenase 1-like | |
|---|---|
| Identifiers | |
| Symbol | GPD1L |
| Alt. symbols | KIAA0089 |
| Entrez | 23171 |
| HUGO | 28956 |
| OMIM | 611778 |
| RefSeq | NM_015141 |
| UniProt | Q8N335 |
| Other data | |
| EC number | 1.1.1.8 |
| Locus | Chr. 3 p22.3 |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
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Overview
GPD1L is a human gene.[1] The protein encoded by this gene contains a glycerol-3-phosphate dehydrogenase (NAD+) motif and shares 72% sequence identity with GPD1.[1]
Structure
GPD1L contains the following domains:[2]
- N-terminal – NAD+ consensus binding site
- a site homologous to the cardiac sodium channel SCN5A
- C-terminal lysine-206 residue
Tissue distribution
Northern blot analysis detected a single GPD1L transcript in all tissues examined except liver. Highest expression was in heart and skeletal muscle.[1]
Disease linkage
Mutations in the GPD1L gene are associated with the Brugada syndrome[2] and sudden infant death syndrome.[3]
See also
References
- ↑ 1.0 1.1 1.2 Nagase T, Miyajima N, Tanaka A, Sazuka T, Seki N, Sato S, Tabata S, Ishikawa K, Kawarabayasi Y, Kotani H (1995). "Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1". DNA Res. 2 (1): 37–43. doi:10.1093/dnares/2.1.37. PMID 7788527.
- ↑ 2.0 2.1 London B, Michalec M, Mehdi H, Zhu X, Kerchner L, Sanyal S, Viswanathan PC, Pfahnl AE, Shang LL, Madhusudanan M, Baty CJ, Lagana S, Aleong R, Gutmann R, Ackerman MJ, McNamara DM, Weiss R, Dudley SC Jr (2007). "Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias". Circulation. 116 (20): 2260–8. doi:10.1161/CIRCULATIONAHA.107.703330. PMID 17967977. Unknown parameter
|month=ignored (help) - ↑ Van Norstrand DW, Valdivia CR, Tester DJ, Ueda K, London B, Makielski JC, Ackerman MJ (2007). "Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome". Circulation. 116 (20): 2253–9. doi:10.1161/CIRCULATIONAHA.107.704627. PMID 17967976. Unknown parameter
|month=ignored (help)