Aliases &
Descriptions
for GPD1L gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase)
About This Section
|
| Aliases & Descriptions |
|---|
| glycerol-3-phosphate dehydrogenase 1-like1 2 | | KIAA00891 2 3 5 | | GPD1-L2 3 | | glycerol-3-phosphate dehydrogenase 1-like protein2 | | EC 1.1.1.83 |
Export aliases for GPD1L gene to outside databases |
Summaries
for GPD1L gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for GPD1L:
The protein encoded by this gene catalyzes the conversion of sn-glycerol 3-phosphate to glycerone phosphate. Theencoded protein is found in the cytoplasm, associated with the plasma membrane, where it binds the sodium channel,voltage-gated, type V, alpha subunit (SCN5A). Defects in this gene are a cause of Brugada syndrome type 2 (BRS2) aswell as sudden infant death syndrome (SIDS). (provided by RefSeq)
UniProtKB/Swiss-Prot: GPD1L_HUMAN, Q8N335Function: Play a role in regulating cardiac sodium current; decreased enzymatic activity with resulting increasedlevels of glycerol 3-phosphate activating the DPD1L-dependent SCN5A phosphorylation pathway, may ultimately lead todecreased sodium current; cardiac sodium current may also be reduced due to alterations of NAD(H) balance induced byDPD1L
|
Genomic Views
for GPD1L gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 60),
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences)
About This Section
|
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the GPD1L gene promoter:
p53 STAT3 Arnt Sp1 Pax-5 STAT1 STAT1alpha STAT1beta STAT5A NF-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for GPD1L
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for GPD1L  |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 3p22.3 Ensembl cytogenetic band: 3p22.3 HGNC cytogenetic band: 3p22.3GPD1L Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc gene densities for chromosome 3 GeneLoc Exon Structure GeneLoc location for GC03P032123: view genomic region
(about GC identifiers)
Start:
|
32,082,648 bp from pter |
End:
|
32,145,486 bp from pter |
Size:
|
62,839 bases |
Orientation:
|
plus strand |
1 alternative location:
| Chr3+ 32,147,181-32,210,205 |
RefSeq DNA sequence:- NC_000003.11 NT_022517.18
|
Proteins
for GPD1L gene
(According to
1UniProtKB,
neXtProt,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological, and/or
ProSpec,
Biochemical Assays by
Millipore,
Sigma-Aldrich,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene,
Antibodies by
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals, and/or
Epitomics)
About This Section
|
UniProtKB/Swiss-Prot: GPD1L_HUMAN, Q8N335 (See
protein sequence)Recommended Name: Glycerol-3-phosphate dehydrogenase 1-like protein Size: 351 amino acids; 38419 Da
Subunit: Interacts with SCN5A
Subcellular location: Cytoplasm. Note=Localized to the region of the plasma membrane
Sequence caution: Sequence=BAA07648.1; Type=Erroneous initiation;
PDB structures from  and Proteopedia  :2PLA (3D)
Secondary accessions: A8K9U3 Q14702 Q9BRM5Explore the universe of human proteins at neXtProt for GPD1L: NX_Q8N335
REFSEQ proteins: NP_055956.1
ENSEMBL proteins: ENSP00000408770 ENSP00000392199 ENSP00000416518 ENSP00000393861 ENSP00000282541
Human Recombinant Proteins
2 Gene Ontology (GO) cellular component terms (GO ID links to tree view): About this table
GPD1L for ontologies About GeneDecksing
Antibodies for GPD1L:
Assays for GPD1L: |
Protein
Domains/
Families
for GPD1L gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
GPD1L for domains About GeneDecksing
5/7 InterPro domains/families (see all 7):Graphical View of Domain Structure for InterPro Entry Q8N335ProtoNet protein and cluster: Q8N335 1 Blocks protein family: IPB006168 NAD-dependent glycerol-3-phosphate dehydrogenase
UniProtKB/Swiss-Prot: GPD1L_HUMAN, Q8N335Similarity: Belongs to the NAD-dependent glycerol-3-phosphate dehydrogenase family |
Gene Function
for GPD1L gene
(According to UniProtKB,
IUBMB,and/or
Genatlas, Animal models from MGI Dec 24 2010,
shRNA from
OriGene,
Sigma-Aldrich,
RNAi from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Clones from Millipore,
Sigma-Aldrich,
OriGene,
GenScript,
Sino Biological,
Cell Lines from GenScript,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene.)
About This Section
|
UniProtKB/Swiss-Prot: GPD1L_HUMAN, Q8N335Function: Play a role in regulating cardiac sodium current; decreased enzymatic activity with resulting increasedlevels of glycerol 3-phosphate activating the DPD1L-dependent SCN5A phosphorylation pathway, may ultimately lead todecreased sodium current; cardiac sodium current may also be reduced due to alterations of NAD(H) balance induced byDPD1LCatalytic activity: sn-glycerol 3-phosphate + NAD(+) = glycerone phosphate + NADHEnzyme Number (IUBMB): EC 1.1.1.8
5/7 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 7): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004367 | glycerol-3-phosphate dehydrogenase [NAD+] activity |
IEA | -- | | GO:0005488 | binding |
IEA | -- | | GO:0016491 | oxidoreductase activity |
-- | -- | | GO:0016614 | oxidoreductase activity, acting on CH-OH group of donors |
-- | -- | | GO:0016616 | oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor |
-- | -- |
About this table
GPD1L for ontologies About GeneDecksing
|
Pathways & Interactions
for GPD1L gene
(Pathways according to
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
PCR Arrays from
SABiosciences,
Proteins Network according to
SABiosciences,
Sigma-Aldrich,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene).
About This Section
|
GPD1L for pathways About GeneDecksing
1  Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathway for GPD1L
1  Kegg Pathway (Kegg details for GPD1L):
SABiosciences Custom Pathway-Focused PCR Arrays for GPD1L
Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for GPD1L
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GPD1L
5/13 Interacting proteins for GPD1L (ENSP000002825413) via UniProtKB, MINT, and/or STRING (see all 13)About this table
4 Gene Ontology (GO) biological process terms (GO ID links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005975 | carbohydrate metabolic process |
IEA | -- | | GO:0006072 | glycerol-3-phosphate metabolic process |
-- | -- | | GO:0046168 | glycerol-3-phosphate catabolic process |
IEA | -- | | GO:0055114 | oxidation-reduction process |
IEA | -- |
About this table
GPD1L for ontologies About GeneDecksing
|
Drugs & Compounds
for GPD1L gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
 Browse Tocris compounds for GPD1L
|
Transcripts
for GPD1L gene(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Tagged/untagged cDNA clones from
OriGene,
Sigma-Aldrich,
GenScript,
Primers from
OriGene and/or
SABiosciences)
About This Section
|
REFSEQ mRNAs for GPD1L gene: NM_015141.3 Additional cDNA sequence: AK074221.1 AK125404.1 AK292808.1 BC006168.1 BC028726.2 D42047.1 6 DOTS entries: DT.444830 DT.97779152 DT.95089136 DT.99996320 DT.120892384 DT.120892397 24/231 AceView cDNA sequences (see all 231): CB243853 CA449426 AI571145 AA699913 AL120816 BX283865 BU782916 BX383972 AI435614 AA856642 AW949410 N91928 AA022718 AW009111 BQ017587 AI492880 AI124787 BM994699 AI014270 AI671686 BQ897073 AI399805 AI339314 AI369410
 highest scoring ESTs for GPD1L:D42047 AA009414 AA016232 AA022810 AA031668 AA031669 AA135522 AA135584 AA233766 AA233817 Unigene Cluster for GPD1L: Glycerol-3-phosphate dehydrogenase 1-like Hs.82432 [show with all ESTs]Unigene Representative Sequence: NM_015141
GeneLoc Exon Structure
3 Alternative Splicing Database (ASD) splice patterns (SP) for GPD1L
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8a | · | 8b |
|---|
|
| SP1: | | | | | | | | | | | | | - | | | | | | | | | | | | |
| SP2: | | | | | - | | | | | | | | - | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | |
About this scheme
ECgene alternative splicing isoforms for GPD1L
7 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000425459 ENST00000428684 ENST00000431009 ENST00000429432 ENST00000282541(uc003cew.2)
ENST00000496151 ENST00000474846
|
Expression
for GPD1L gene
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 228 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Primers from
OriGene and/or
SABiosciences
)
About This Section
| GPD1L expression in normal and diseased human tissues
1 / 2 / 3 3 probe-sets matching GPD1L gene
Affymetrix
probe-set |
Array |
GeneAnnot data |
GeneNote data |
GeneTide data |
| # genes |
Sensitivity |
Specificity |
Correlation |
Length |
Gb_Accession |
Consensus |
Uniqueness |
Score |
Rank |
| 38394_at2, 3
|
U95-A |
1 |
1.00 |
1.00 |
1.00 |
1.00 |
D42047 |
1.00 |
1.00 |
1.00 |
1 |
| 212510_at2, 3
|
U133-A |
1 |
1.00 |
1.00 |
-- |
-- |
AA135522 |
0.80 |
1.00 |
0.91 |
1 |
| 212510_at2
|
U133Plus2 |
1 |
1.00 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
About this table
GPD1L for expression About GeneDecksing
Data from
Genenote
(Publications) and GNF BioGPS
About these images
About these images
CGAP SAGE TAG: TGTACTATAT
SOURCE GeneReport for Unigene cluster: Hs.82432
Expression variation in blood from EXPOLDB for GPD1L UniProtKB/Swiss-Prot: GPD1L_HUMAN, Q8N335Tissue specificity: Most highly expressed in heart tissue, with lower levels in the skeletal muscle, kidney, lung andother organs
SABiosciences Custom PCR Arrays for GPD1L
|
Orthologs
for GPD1L gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Dec 24 2010,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for GPD1L gene from 5/11 species (see all 11)
About this table Species with no ortholog for GPD1L
ENSEMBL Gene Tree for GPD1L (if available) |
Paralogs
for GPD1L gene(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
| Paralogs for GPD1L gene
- GPD12
GPD1L for paralogs About GeneDecksing
|
Genomic Variants
for GPD1L gene(SNPs according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Chr 3 pos | Sequence | Recs | AA
Chg | Type | More | Recs | Allele
freq | Pop | Total
sample | More |
|---|
About this tableHapMap Linkage Disequilibrium images for GPD1L (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 15 variations for GPD1L
8 CNVs: 98276 79729 91263 79728 79727 91264 79726 91262
7 Indels: 46402 42250 12290 40523 46403 46401 42493 | | QIAGEN SeqTarget long-range PCR primers for resequencing GPD1L |
|
Disorders & Mutations
for GPD1L gene
(in which this Gene is Involved, According to
OMIM, UniProtKB,
PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
LSDB, HGMD, GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
GPD1L for disorders About GeneDecksing
OMIM: 611778 disorders: 611777 UniProtKB/Swiss-Prot: GPD1L_HUMAN, Q8N335
Defects in GPD1L are the cause of Brugada syndrome type 2 (BRS2) [MIM:611777]. BRS2 is an autosomal dominanttachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). Itcan cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. Whenthis situation occurs (called ventricular fibrillation), the individual will faint and may die in a few minutes if theheart is not reset Defects in GPD1L are a cause of sudden infant death syndrome (SIDS) [MIM:272120]. SIDS is the sudden death ofan infant younger than 1 year that remains unexplained after a thorough case investigation, including performance of acomplete autopsy, examination of the death scene, and review of clinical history. Pathophysiologic mechanisms for SIDSmay include respiratory dysfunction, cardiac dysrhythmias, cardiorespiratory instability, and inborn errors ofmetabolism, but definitive pathogenic mechanisms precipitating an infant sudden death remain elusiveHuman Gene Mutation Database (HGMD): GPD1L
Human Genome Epidemiology (HuGE) Navigator: GPD1L (2 documents)
Export disorders and mutations for GPD1L gene to outside databases
|
Medical News
for GPD1L gene(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications
for GPD1L gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6UniProtKB/TrEMBL, and/or
7Novoseek)
About This Section
|
10/13 PubMed articles for GPD1L gene, integrated from 7 sources (see all 13):
(articles sorted by number of sources associating them with GPD1L)- 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. (PubMed id 7788527)1, 2, 3 Nagase T....Kotani H. (1995)
- Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias. (PubMed id 17967977)1, 2, 7 London B....Dudley S.C. (2007)
- GPD1L links redox state to cardiac excitability by PKC-dependent phosphorylation of the sodium channel SCN5A. (PubMed id 19666841)1, 2, 7 Valdivia C.R.... Makielski J.C. (2009)
- Cardiac Na+ current regulation by pyridine nucleotides. (PubMed id 19745168)1, 2, 7 Liu M....Dudley S.C. Jr. (2009)
- Molecular and functional characterization of novel glycerol-3- phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome. (PubMed id 17967976)1, 2 Van Norstrand D.W.... Ackerman M.J. (2007)
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
- Mutation analysis of the glycerol-3 phosphate dehydrogenase-1 like (GPD1L) gene in Japanese patients with Brugada syndrome. (PubMed id 18762705)1 Makiyama T....Horie M. (2008)
- Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
- Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
|
External Searches for GPD1L gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing GPD1L gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing GPD1L gene
(According to HUGE)
About This Section
| |
Specialized Databases showing GPD1L gene(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
|
About This Section
| Patent Information for GPD1L gene:
Search GeneIP for patents involving GPD1L
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for GPD1L gene(Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or
Enzo Life Sciences)
About This Section
|
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 |  |  |  | |
| |  | Search Tocris compounds for GPD1L |
| |  |  |  |  | | | | |
 | | | ELISAs and CLIAs for GPD1L |
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