H-InvDB x AHG DB
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H-InvDB_9.0 released on May 27, 2015.
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H-Invitational ID: HIT000030868 Accession number: BC002406 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial; EC=1.2.4.1; PDHE1-A type I; Precursor;
 
 

Transcript original information
Accession number BC002406.1
CAGE tag ID NA
EST ID NA
Clone Number MGC:8609 IMAGE:2961286
Experimental resources NBRC: NITE Biological Resource Center  NBRC ; HGPD: Human Gene and Protein Database HGPD ;
Sequence data provider Provider:MGC/NCI; 
Annotation project H-Invitational FLcDNA
Length of cDNA 1456[bp] (No. of exon:11)[A:408 T:340 G:406 C:302]
Devision HUM
Molecular type mRNA
Library origin Cell type NA
Tissue type Muscle, rhabdomyosarcoma
Develpmental stage NA
Mini-G
Sequence quality information
CDS feature Complete CDS
Kozak sequence NA
PolyA Site: 1422(+) Signal: 1399-1403(+)
Vector/adapter sequence NA
Frame shift NA
Remaining intron NA
Splice site acceptor (NAGNAG) NA
Transcript quality feature NA
Notes NA

Gene structure information  G-integra H-DBAS cDNA-genome alignment
H-Inv cluster ID HIX0016687
Genomic location  G-integra Help Chromosome X
Location Xp22.12
Position 19362099- 19377962
Strand +
Possible duplicated location(s) NA
Gene structure 11 exon(s)
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:5160; 
KEGG GENES KEGG GENES(5160); 
GeneCard NA *GeneCards is provided free to academic non-profit institutions.
Related H-InvDB links H-DBASH-DBAS;  G-integraG-integra;  cDNA-genome alignmentcDNA-genome alignment; 

Predicted CDS information
HIP ID HIP000092457
Predicted CDS 58..1230;  390[aa];  Orientation:+1; 
Codon Adaptation Index (CAI). 0.776
Database links RefSeq NP_000275; 
UniProt P08559; 
CCDS CCDS14192; 

Motif information
ORF

length(390),orf(58:1230) MRKMLAAVSRVLSGASQKPASRVLVASRNFANDATFEIKKCDLHRLEEGP PVTTVLTREDGLKYYRMMQTVRRMELKADQLYKQKIIRGFCHLCDGQEAC CVGLEAGINPTDHLITAYRAHGFTFTRGLSVREILAELTGRKGGCAKGKG GSMHMYAKNFYGGNGIVGAQVPLGAGIALACKYNGKDEVCLTLYGDGAAN QGQIFEAYNMAALWKLPCIFICENNRYGMGTSVERAAASTDYYKRGDFIP GLRVDGMDILCVREATRFAAAYCRSGKGPILMELQTYRYHGHSMSDPGVS YRTREEIQEVRSKSDPIMLLKDRMVNSNLASVEELKEIDVEVRKEIEDAA QFATADPEPPLEELGYHIYSSDPPFEVRGANQWIKFKSVS* 		a.a.
length		 InterPro Name
length(350), motif(36:385) 350 IPR029061 Thiamin diphosphate-binding fold [Domain]
length(335), motif(49:383) 335 IPR029061 Thiamin diphosphate-binding fold [Domain]
length(311), motif(59:369) 311 IPR017597 Pyruvate dehydrogenase (acetyl-transferring) E1 component, alpha subunit, subgroup y [Family]
length(295), motif(67:361) 295 IPR001017 Dehydrogenase, E1 component [Domain]

Gene function information  Gene family PPI viewer Similarity Search Tool TACT
H-Inv ID HIT000030868
H-Inv cluster ID Locus viewHIX0016687
Accession number BC002406.1
CAGE tag ID NA
EST ID NA
Transcript feature  Help NO;  Splicing isoformSplicing isoform
Coding potential  Help Protein coding; 
Definition Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial; EC=1.2.4.1; PDHE1-A type I; Precursor;
Similarity category  Help Category: Identical to known human protein(Category I).
Identical to known human protein (P08559)  [Identity/coverage = 100.0%/100.0%] to Homo sapiens (Human). protein.
Experimental evidence Protein evidence
PubMed ID 1293379;  1301207;  1338114;  1551669;  1909401;  2227443;  2745444;  2748588;  2828359;  3034892;  3422424;  7545958;  7573035;  7757088;  7782287;  7887409;  7967473;  8032855;  8199595;  8498846;  8504306;  8664900;  8844217;  9266390;  9671272;  10077682;  11486000;  12651851;  14638692;  14702039;  15489334;  15772651;  17081983;  17474719;  18088087;  18669648;  18691976;  19081061;  19608861;  20068231;  21269460;  21406692;  ALL; 
Gene family/group Gene family H-Inv gene family/group ID NA
Gene family/group name NA
Evidence motif (InterPro) ID NA
Gene symbol/name HGNC symbol NA
HGNC aliases NA
HGNC name NA
DDBJ PDHA1
UniProt PDHA1
EC number EC 1.2.4.1pyruvate dehydrogenase (acetyl-transferring); 
GGDB
(GlycoGene Database)
 Gene symbol NA
Familly NA
Designation NA
Expression NA
KEGG metabolic pathway 00010 :Glycolysis / Gluconeogenesis;  00252 :Alanine and aspartate metabolism;  00290 :Valine, leucine and isoleucine biosynthesis;  00620 :Pyruvate metabolism;  00650 :Butanoate metabolism; 
Protein-protein interaction (PPI) PPI viewer H-Inv protein ID HIP000092457
No. of interaction 41
Interaction partner(s) HIP000021398;  HIP000021818;  HIP000023813;  HIP000025218;  HIP000027358;  HIP000027633;  HIP000027724;  HIP000027819;  HIP000028809;  HIP000028809;  HIP000033336;  HIP000036277;  HIP000044974;  HIP000045907;  HIP000060266;  HIP000060961;  HIP000072285;  HIP000077669;  HIP000081147;  HIP000085099;  HIP000092751;  HIP000096658;  HIP000098063;  HIP000100064;  HIP000100824;  HIP000102812;  HIP000103896;  HIP000105273;  HIP000107528;  HIP000109092;  HIP000112312;  HIP000112664;  HIP000115885;  HIP000128077;  HIP000130959;  HIP000194485;  HIP000251441;  HIP000337035;  HIP000357639;  HIP000357639;  HIP000359210; 
BIND 116025;  116026;  116028;  295725; 
DIP 113574E;  117052E;  65616E; 
MINT NA
HPRD 01530;  03954;  03955;  03956;  03957;  04116;  09267;  10578;  13702;  16185; 
IntAct NA
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:5160; 
KEGG GENES KEGG GENES(5160); 
GeneCard NA *GeneCards is provided free to academic non-profit institutions.
etc H-GOLDHuman-Gene diversity Of Life-style related Diseases; 
Curation status Auto-annotated
Notes NA
Related H-InvDB links Gene familyGene family;  Similarity Search ToolSimilarity Search Tool;  TACTTACT; 
fRNAdb (The functional RNA database) : overlapping fRNAdb entries with H-InvDB transcripts based on the location of the genome. 
NA

Gene ontology information
Molecular function oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor (GO:0016624);  pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739); 
Biological process glycolysis (GO:0006096);  metabolic process (GO:0008152); 
Cellular component intracellular membrane-bound organelle (GO:0043231); 

Subcellular localization information  Last modified:27-May-2015
WoLF PSORT mitochondria;  cytosol; 
Target P mitochondria
SOSUI soluble protein
TMHMM soluble protein
PTS1 Not targeted
Related H-InvDB links LIFEdb LIFEdb; 
JRE-1.4.0 or later is required. Download JRE at Sun's web site.

Protein structure information (GTOP) GTOP Last modified:27-May-2015
Start End PDB_ID E-value Identity Coverage SCOP_ID
29 390 1ni4A 9e-76 93.1 362/362 c.36.1.11
Related H-InvDB links GTOP GTOP

Gene expression information  H-ANGEL DNAProbeLocator Last modified:27-May-2015
Tissue-specific expression  H-ANGEL NA
Probe
information DNAProbeLocator		 AceGene AGhsA061224;  AGhsB141207; 
Affymetrix
GeneChip		 HG-Focus 200980_s_at; 
HG-U133 200980_s_at; 
HG-U133A 200980_s_at; 
HG-U133A_2 200980_s_at; 
HG-U133B NA
HG-U133_Plus_2 1555864_s_at;  200980_s_at; 
HG-U95 NA
HG-U95A NA
HG-U95B NA
HG-U95C NA
HG-U95D NA
HG-U95E NA
HG-U95Av2 NA
HuEx-1_0 3970868;  3970869;  3970873;  3970874;  3970875;  3970878;  3970881;  3970885;  3970887;  3970889;  3970891;  3970893;  3970894;  4001784;  4001786; 
HuGeneFL D90084_at; 
Agilent Human 1A Oligo Microarray:PGID215 A_23_P251095; 
Whole Human Genome Oligo Microarray:PGID247 A_23_P251095; 
Related H-InvDB links H-ANGELH-ANGEL;  DNAProbeLocatorDNAProbeLocator; 

Disease/pathology information  DiseaseInfo Viewer LEGENDA Last modified:27-May-2015
Disease relation Disease name: Leigh syndrome, X-linked (308930);  Disease name: Pyruvate dehydrogenase deficiency (312170); 
Related information in OMIM OMIM ID:  300502;  Title: PYRUVATE DEHYDROGENASE COMPLEX, E1-ALPHA POLYPEPTIDE 1
Co-localized orphan diseases NA
Disease related mutation MutationView:  300502; 
JRE-1.4.0 or later is required.Download JRE at Sun's web site.
Literature-Extracted GENe-Disease Associations (LEGENDA) LEGENDA Gene name Entrez Gene ID:(5160)
Disease Entrez Gene ID:(5160)
Substance Entrez Gene ID:(5160)
Related H-InvDB links DiseaseInfo ViewerDiseaseInfo Viewer;  LEGENDALEGENDA; 

Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information  VaryGene Repeat mask viewer
 Single Nucleotide Polymorphism (SNP) and indel  VaryGene
Location Variation dbSNP ID Strand CDS/UTR Translation
49 .. 49 C/T rs76809608 + 5'UTR
86 .. 86 G/C rs137853257 + CDS Nonsynonymous[Arg10Pro]
154 .. 154 G/C rs150318528 + CDS Nonsynonymous[Asp33His]
191 .. 191 G/A rs144967854 + CDS Nonsynonymous[Arg45Gln]
227 .. 227 C/G rs149083818 + CDS Nonsynonymous[Thr57Ser]
309 .. 309 G/A rs144828838 + CDS Synonymous[Gln84Gln]
394 .. 394 C/T rs11554111 + CDS Nonsynonymous[His113Tyr]
420 .. 420 C/T rs183170654 + CDS Synonymous[His121His]
436 .. 436 C/T rs199959402 + CDS Nonsynonymous[Arg127Trp]
463 .. 463 G/A rs138727886 + CDS Nonsynonymous[Ala136Thr]
564 .. 564 G/A rs141862527 + CDS Synonymous[Ala169Ala]
672 .. 672 C/G rs137853254 + CDS Nonsynonymous[Phe205Leu]
705 .. 705 A/C rs121917898 + CDS Nonsynonymous[Leu216Phe]
717 .. 717 C/T rs145621243 + CDS Synonymous[Phe220Phe]
750 .. 750 G/A rs138237215 + CDS Synonymous[Thr231Thr]
784 .. 784 T/A rs137853255 + CDS Nonsynonymous[Tyr243Asn]
830 .. 830 A/C rs137853253 + CDS Nonsynonymous[Asp258Ala]
841 .. 841 G/A rs202166915 + CDS Nonsynonymous[Val262Ile]
844 .. 844 C/G rs137853259 + CDS Nonsynonymous[Arg263Gly]
852 .. 852 A/C/G rs1126565 + CDS
855 .. 855 A/G rs35752213 + CDS Synonymous[Thr266Thr]
901 .. 901 A/C rs2229137 + CDS Nonsynonymous[Met282Leu]
920 .. 920 G/A rs137853258 + CDS Nonsynonymous[Arg288His]
961 .. 961 C/T rs137853252 + CDS Nonsynonymous[Arg302Cys]
984 .. 984 A/C rs200088791 + CDS Nonsynonymous[Glu309Asp]
1000 .. 1000 G/A rs137853256 + CDS Nonsynonymous[Asp315Asn]
1056 .. 1056 A/C rs2228067 + CDS Nonsynonymous[Glu333Asp]
1119 .. 1119 G/T rs147510382 + CDS Synonymous[Thr354Thr]
1171 .. 1171 G/A rs199879809 + CDS Nonsynonymous[Asp372Asn]
1190 .. 1190 G/A rs137853250 + CDS Nonsynonymous[Arg378His]
1216 .. 1216 A/C rs201156613 + CDS Nonsynonymous[Lys387Gln]
1245 .. 1245 G/C rs200547574 + 3'UTR
1269 .. 1269 C/T rs111666443 + 3'UTR
1312 .. 1312 C/T rs11554112 - 3'UTR
1320 .. 1320 T/A rs147338122 + 3'UTR
1340 .. 1340 C/T rs709610 + 3'UTR
1343 .. 1343 C/G rs182754597 + 3'UTR
1364 .. 1364 C/A rs187360934 + 3'UTR
 Microsatellite (Short Tandem Repeat, STR)
No data available
 Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD)
No data available
 Repeat  Repeat mask viewer
No data available
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD); 
Related H-InvDB links VaryGeneVaryGene;  Repeat mask viewerRepeat Mask Viewer;