GPD1L: Difference between revisions

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{{protein
{{infobox protein
|Name=glycerol-3-phosphate dehydrogenase 1-like
|Name=glycerol-3-phosphate dehydrogenase 1-like
|caption=
|caption=
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|LocusSupplementaryData=
|LocusSupplementaryData=
}}
}}
{{SI}}
'''GPD1L''' is a human [[gene]].<ref name="pmid7788527">{{cite journal |vauthors=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"/>
{{CMG}}
 
{{EH}}
 
==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"/>


==Structure==
==Structure==
GPD1L contains the following [[protein domain|domains]]:<ref name="pmid17967977">{{cite journal | author = 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 | title = Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias | journal = Circulation | volume = 116 | issue = 20 | pages = 2260–8 | year = 2007 | month = November | pmid = 17967977 | doi = 10.1161/CIRCULATIONAHA.107.703330 | url =  }}</ref>
GPD1L contains the following [[protein domain|domains]]:<ref name="pmid17967977">{{cite journal |vauthors=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)) | title = Mutation in Glycerol-3-Phosphate Dehydrogenase 1–Like Gene (GPD1-L) Decreases Cardiac Na+ Current and Causes Inherited Arrhythmias | journal = Circulation | volume = 116 | issue = 20 | pages = 2260–8 |date=November 2007 | pmid = 17967977 | doi = 10.1161/CIRCULATIONAHA.107.703330 | url = | pmc = 3150966 }}</ref>
* [[N-terminus|N-terminal]] – [[NAD%2B#Oxidoreductases|NAD+]] consensus binding site
* [[N-terminus|N-terminal]] – [[NAD+#Oxidoreductases|NAD+]] consensus binding site
* a site homologous to the cardiac sodium channel [[SCN5A]]
* a site homologous to the cardiac sodium channel [[SCN5A]]
* [[C-terminus|C-terminal]] [[lysine]]-206 residue
* [[C-terminus|C-terminal]] [[lysine]]-206 residue
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==Disease linkage==
==Disease linkage==
Mutations in the GPD1L gene are associated with the [[Brugada syndrome]]<ref name="pmid17967977"/> and [[sudden infant death syndrome]].<ref name="pmid17967976">{{cite journal | author = Van Norstrand DW, Valdivia CR, Tester DJ, Ueda K, London B, Makielski JC, Ackerman MJ | title = Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome | journal = Circulation | volume = 116 | issue = 20 | pages = 2253–9 | year = 2007 | month = November | pmid = 17967976 | doi = 10.1161/CIRCULATIONAHA.107.704627 | url = }}</ref>
Mutations in the GPD1L gene are associated with the [[Brugada syndrome]]<ref name="pmid17967977"/> and [[sudden infant death syndrome]].<ref name="pmid17967976">{{cite journal |vauthors=Van Norstrand DW, Valdivia CR, Tester DJ, Ueda K, London B, Makielski JC, Ackerman MJ | title = Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome | journal = Circulation | volume = 116 | issue = 20 | pages = 2253–9 |date=November 2007 | pmid = 17967976 | doi = 10.1161/CIRCULATIONAHA.107.704627 | url = | pmc=3332545}}</ref>


==See also==
==See also==
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{{Reflist|2}}
{{Reflist|2}}


{{SIB}}
==External links==
 
* [https://www.ncbi.nlm.nih.gov/books/NBK1517/  GeneReviews/NIH/NCBI/UW entry on Brugada syndrome]
[[Category:Genetics]]
* [https://www.nature.com/articles/s41598-017-01517-6 A Systems Genetics Approach Identified GPD1L and its Molecular Mechanism for Obesity in Human Adipose Tissue]


{{WH}}
{{gene-3-stub}}
{{WS}}

Latest revision as of 08:56, 31 August 2017

glycerol-3-phosphate dehydrogenase 1-like
Identifiers
SymbolGPD1L
Alt. symbolsKIAA0089
Entrez23171
HUGO28956
OMIM611778
RefSeqNM_015141
UniProtQ8N335
Other data
EC number1.1.1.8
LocusChr. 3 p22.3

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]

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. ↑ 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. ↑ 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 (November 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. PMC 3150966. PMID 17967977.
  3. ↑ Van Norstrand DW, Valdivia CR, Tester DJ, Ueda K, London B, Makielski JC, Ackerman MJ (November 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. PMC 3332545. PMID 17967976.

External links

Retrieved from "https://www.wikidoc.org/index.php?title=GPD1L&oldid=1412872"