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UniProtKB/Swiss-Prot entry Q8N335


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name GPD1L_HUMAN
Primary accession number Q8N335
Secondary accession numbers A8K9U3 Q14702 Q9BRM5
Integrated into Swiss-Prot on May 15, 2007
Sequence was last modified on October 1, 2002 (Sequence version 1)
Annotations were last modified on    July 22, 2008 (Entry version 50)
Name and origin of the protein
Protein name Glycerol-3-phosphate dehydrogenase 1-like protein
Synonym EC 1.1.1.8
Gene name
Name: GPD1L
Synonyms: KIAA0089
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 1: Evidence at protein level;
References
[1]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Bone marrow;
DOI=10.1093/dnares/2.1.37; PubMed=7788527 [NCBI, ExPASy, EBI, Israel, Japan]
Nagase T., Miyajima N., Tanaka A., Sazuka T., Seki N., Sato S., Tabata S., Ishikawa K., Kawarabayasi Y., Kotani H., Nomura N.;
"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. 2:37-43(1995).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
DOI=10.1038/ng1285; PubMed=14702039 [NCBI, ExPASy, EBI, Israel, Japan]
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S., Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human cDNAs.";
Nat. Genet. 36:40-45(2004).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.;
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Brain, and Placenta;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[5]
X-RAY CRYSTALLOGRAPHY (2.51 ANGSTROMS) OF 1-349 IN COMPLEX WITH NAD AND PHOSPHATE IONS.
Structural genomics consortium (SGC);
"Crystal structure of human glycerol-3-phosphate dehydrogenase 1-like protein.";
Submitted (MAY-2007) to the PDB data bank.
[6]
VARIANTS SIDS LYS-83; VAL-124 AND CYS-273, AND CHARACTERIZATION OF VARIANTS SIDS LYS-83; VAL-124 AND CYS-273.
DOI=10.1161/CIRCULATIONAHA.107.704627; PubMed=17967976 [NCBI, ExPASy, EBI, Israel, Japan]
Van Norstrand D.W., Valdivia C.R., Tester D.J., Ueda K., London B., Makielski J.C., Ackerman M.J.;
"Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome.";
Circulation 116:2253-2259(2007).
[7]
TISSUE SPECIFICITY, SUBCELLULAR LOCATION, VARIANT BRS2 VAL-280, AND CHARACTERIZATION OF VARIANT BRS2 VAL-280.
DOI=10.1161/CIRCULATIONAHA.107.703330; PubMed=17967977 [NCBI, ExPASy, EBI, Israel, Japan]
London B., Michalec M., Mehdi H., Zhu X., Kerchner L., Sanyal S., Viswanathan P.C., Pfahnl A.E., Shang L.L., Madhusudanan M., Baty C.J., Lagana S., Aleong R., Gutmann R., Ackerman M.J., McNamara D.M., Weiss R., Dudley S.C. Jr.;
"Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias.";
Circulation 116:2260-2268(2007).
Comments
  • CATALYTIC ACTIVITY: sn-glycerol 3-phosphate + NAD+ = glycerone phosphate + NADH.
  • SUBCELLULAR LOCATION: Cytoplasm. Note=Localized to the region of the plasma membrane.
  • TISSUE SPECIFICITY: Most highly expressed in heart tissue, with lower levels in the skeletal muscle, kidney, lung and other organs.
  • DISEASE: Defects in GPD1L are the cause of Brugada syndrome type 2 (BRS2) [MIM:611777]. BRS2 is an autosomal dominant tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs (called ventricular fibrillation), the individual will faint and may die in a few minutes if the heart is not reset.
  • DISEASE: Defects in GPD1L are a cause of sudden infant death syndrome (SIDS) [MIM:272120]. SIDS is the sudden death of an infant younger than 1 year that remains unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of clinical history. Pathophysiologic mechanisms for SIDS may include respiratory dysfunction, cardiac dysrhythmias, cardiorespiratory instability, and inborn errors of metabolism, but definitive pathogenic mechanisms precipitating an infant sudden death remain elusive.
  • SIMILARITY: Belongs to the NAD-dependent glycerol-3-phosphate dehydrogenase family.
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
D42047; BAA07648.1; ALT_INIT; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AK292808; BAF85497.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
CH471055; EAW64422.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC006168; AAH06168.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC028726; AAH28726.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
RefSeq NP_055956.1; -.
UniGene Hs.82432
3D structure databases
PDB
2PLA; X-ray; 2.51 A; A/B=1-349.[ExPASy / RCSB / EBI]
PDBsum 2PLA; -.
ModBase Q8N335.
Organism-specific databases
HGNC HGNC:28956; GPD1L.
GenAtlas GPD1L.
MIM 272120; phenotype. [NCBI / EBI]
611777; phenotype. [NCBI / EBI]
611778; gene. [NCBI / EBI]
PharmGKB PA134986345; -.
GeneCards Q8N335.
HUGE KIAA0089.
Gene expression databases
ArrayExpress Q8N335; -.
CleanEx HS_GPD1L; -.
Family and domain databases
InterPro IPR013328; DHase_multihelical.
IPR016040; NAD(P)-bd.
IPR017751; NAD-dep_Gly3P_DH_euk.
IPR006168; NAD-dep_Gly3P_DHase.
IPR011128; NAD-dep_Gly3P_DHase_N.
IPR006109; NAD_Gly3P_DHase_C.
Graphical view of domain structure.
Gene3D G3DSA:3.40.50.720; NAD(P)-bd; 1.
G3DSA:1.10.1040.10; Opine_DH; 1.
PANTHER PTHR11728; NAD_Gly3P_DH; 1.
Pfam PF07479; NAD_Gly3P_dh_C; 1.
PF01210; NAD_Gly3P_dh_N; 1.
Pfam graphical view of domain structure.
PIRSF PIRSF000114; Glycerol-3-P_dh; 1.
PRINTS PR00077; GPDHDRGNASE.
ProDom PD001278; NAD_Gly3P_C; 1.
[Domain structure / List of seq. sharing at least 1 domain]
PROSITE PS00957; NAD_G3PDH; FALSE_NEG.
BLOCKS Q8N335.
Proteomic databases
PeptideAtlas Q8N335; -.
Genome annotation databases
Ensembl ENSG00000152642; Homo sapiens. [Contig view]
GeneID 23171; -.
KEGG hsa:23171; -.
NMPDR fig|9606.3.peg.22252; -.
Phylogenomic databases
HOVERGEN Q8N335; -.
Other
SOURCE GPD1L; Homo sapiens.
ProtoNet Q8N335.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
3D-structure; Brugada syndrome; Cytoplasm; Disease mutation; NAD; Oxidoreductase; Polymorphism.
Features
SEVIEWER logo Feature table viewer
KeyFrom   To Length Description FTId
CHAIN   1   351  351     Glycerol-3-phosphate dehydrogenase 1-like protein. PRO_0000286511
NP_BIND   12    17  6     NAD. 
REGION   271   272  2     Substrate binding. 
ACT_SITE   206   206        Proton acceptor. 
BINDING   43    43        NAD (By similarity). 
BINDING   99    99        NAD (By similarity). 
BINDING   122   122        Substrate (By similarity). 
BINDING   155   155        NAD; via amide nitrogen. 
BINDING   271   271        NAD (By similarity). 
BINDING   298   298        NAD; via amide nitrogen. 
BINDING   300   300        NAD (By similarity). 
VARIANT   83    83  1     E -> K (in SIDS; significant reduction of sodium current when coexpressed with SCN5A in HEK cells). VAR_044044 [3D]
VARIANT   124   124  1     I -> V (in SIDS; significant reduction of sodium current when coexpressed with SCN5A in HEK cells). VAR_044045 [3D]
VARIANT   178   178  1     L -> F (in dbSNP:rs35447795 [NCBI]). VAR_032114 [3D]
VARIANT   273   273  1     R -> C (in SIDS; significant reduction of sodium current when coexpressed with SCN5A in HEK cells). VAR_044046 [3D]
VARIANT   280   280  1     A -> V (in BRS2; affects SCN5A membrane expression; reduction of sodium current when coexpressed with SCN5A in HEK cells). VAR_044047 [3D]
STRAND   8    11  4      
HELIX   15    28  14      
STRAND   38    41  4      
HELIX   52    59  8      
TURN   63    65  3      
STRAND   75    79  5      
HELIX   81    85  5      
STRAND   89    93  5      
HELIX   97    99  3      
HELIX   100   107  8      
STRAND   116   119  4      
STRAND   124   127  4      
STRAND   130   133  4      
HELIX   134   142  9      
STRAND   144   152  9      
HELIX   155   159  5      
STRAND   164   169  6      
HELIX   173   183  11      
STRAND   188   194  7      
HELIX   196   218  23      
HELIX   223   244  22      
STRAND   245   247  3      
HELIX   251   254  4      
TURN   257   259  3      
HELIX   260   269  10      
HELIX   271   282  12      
HELIX   286   294  9      
HELIX   301   315  15      
HELIX   318   320  3      
HELIX   322   332  11      
HELIX   339   345  7      
Sequence information
Length: 351 AA [This is the length of the unprocessed precursor] Molecular weight: 38419 Da [This is the MW of the unprocessed precursor] CRC64: 74C3B27EEB41DE89 [This is a checksum on the sequence]
        10         20         30         40         50         60 
MAAAPLKVCI VGSGNWGSAV AKIIGNNVKK LQKFASTVKM WVFEETVNGR KLTDIINNDH 

        70         80         90        100        110        120 
ENVKYLPGHK LPENVVAMSN LSEAVQDADL LVFVIPHQFI HRICDEITGR VPKKALGITL 

       130        140        150        160        170        180 
IKGIDEGPEG LKLISDIIRE KMGIDISVLM GANIANEVAA EKFCETTIGS KVMENGLLFK 

       190        200        210        220        230        240 
ELLQTPNFRI TVVDDADTVE LCGALKNIVA VGAGFCDGLR CGDNTKAAVI RLGLMEMIAF 

       250        260        270        280        290        300 
ARIFCKGQVS TATFLESCGV ADLITTCYGG RNRRVAEAFA RTGKTIEELE KEMLNGQKLQ 

       310        320        330        340        350 
GPQTSAEVYR ILKQKGLLDK FPLFTAVYQI CYESRPVQEM LSCLQSHPEH T 

Q8N335 in FASTA format

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