ENSG00000177156


Homo sapiens

Features
Gene ID: ENSG00000177156
  
Biological name :TALDO1
  
Synonyms : P37837 / TALDO1 / transaldolase 1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: 1
Band: p15.5
Gene start: 747329
Gene end: 765024
  
Corresponding Affymetrix probe sets: 201463_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000321259
Ensembl peptide - ENSP00000437098
Ensembl peptide - ENSP00000435042
Ensembl peptide - ENSP00000433501
NCBI entrez gene - 6888     See in Manteia.
OMIM - 602063
RefSeq - NM_006755
RefSeq Peptide - NP_006746
swissprot - A0A140VK56
swissprot - E9PM01
swissprot - P37837
swissprot - F2Z393
swissprot - E9PKI8
Ensembl - ENSG00000177156
  
Related genetic diseases (OMIM): 606003 - Transaldolase deficiency, 606003
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 taldo1ENSDARG00000103369Danio rerio
 TALDO1ENSGALG00000037195Gallus gallus
 Q93092ENSMUSG00000025503Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR001585  Transaldolase/Fructose-6-phosphate aldolase
 IPR004730  Transaldolase type 1
 IPR013785  Aldolase-type TIM barrel
 IPR018225  Transaldolase, active site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0005975 carbohydrate metabolic process IEA
 biological_processGO:0005999 xylulose biosynthetic process TAS
 biological_processGO:0006002 fructose 6-phosphate metabolic process IEA
 biological_processGO:0006098 pentose-phosphate shunt IEA
 biological_processGO:0009052 pentose-phosphate shunt, non-oxidative branch IEA
 biological_processGO:0019682 glyceraldehyde-3-phosphate metabolic process IEA
 biological_processGO:0035722 interleukin-12-mediated signaling pathway TAS
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0004801 sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0030246 carbohydrate binding IEA
 molecular_functionGO:0048029 monosaccharide binding IEA


Pathways (from Reactome)
Pathway description
Insulin effects increased synthesis of Xylulose-5-Phosphate
TALDO1 deficiency: failed conversion of SH7P, GA3P to Fru(6)P, E4P
TALDO1 deficiency: failed conversion of Fru(6)P, E4P to SH7P, GA3P
Pentose phosphate pathway
Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000056 Abnormality of the clitoris 
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 HP:0000077 Abnormality of the kidneys "An abnormality of the kidneys, the paired organs whose primary function is the production of urine." [HPO:curators]
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 HP:0000154 Wide mouth "Abnormally wide mouth." [HPO:curators]
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 HP:0000233 Thin vermillion border 
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 HP:0000260 Wide anterior fontanel "Enlargement of the anterior fontanelle with respect to age-dependent norms." [HPO:curators]
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 HP:0000322 Short philtrum 
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 HP:0000325 Triangular facies 
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 HP:0000369 Low-set ears "Low-set ears are defined to be set below an arbitrary line drawn between the lateral canthus of the eye and the occipital protruberance." [HPO:curators]
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 HP:0000664 Synophrys "Fusion of the left and right `eyebrow` (FMA:54237)." [HPO:probinson]
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 HP:0001009 Telangiectasia "Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter." [HPO:curators]
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001394 Cirrhosis 
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 HP:0001395 Hepatic fibrosis 
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 HP:0001410 Decreased liver function 
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 HP:0001413 Micronodular cirrhosis 
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 HP:0001433 Hepatosplenomegaly 
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 HP:0001508 Failure to thrive 
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 HP:0001511 Intrauterine growth retardation 
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 HP:0001518 Low birth weight 
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 HP:0001562 Oligohydramnios 
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 HP:0001629 Ventricular septal defect "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:curators]
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 HP:0001631 Atrial septal defect "Atrial septal defect (ASD) is a congenital heart defect that enables blood flow between the left and right atria via the interatrial septum. The three common types of ASD are sinus venosus defects, ostium secundum defects, and ostium primum defects." [HPO:curators]
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 HP:0001643 Patent ductus arteriosus 
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 HP:0001655 Patent foramen ovale 
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 HP:0001680 Coarctation of aorta "Coarctation of the aorta is a narrowing or constriction of the aorta just distal to the origin of the left subclavian artery." [HPO:curators]
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 HP:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
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 HP:0001789 Hydrops fetalis 
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 HP:0001873 Thrombocytopenia 
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 HP:0001876 Pancytopenia 
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 HP:0001903 Anemia 
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 HP:0001999 Facial dysmorphism 
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 HP:0002002 Deep philtrum 
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 HP:0002033 Poor suck "An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed." [HPO:curators]
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 HP:0002099 Asthma "Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing." [HPO:curators]
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 HP:0002240 Hepatomegaly "An abnormal enlargment of the liver." [HPO:curators]
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 HP:0002795 Functional respiratory abnormality 
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 HP:0005280 Depressed nasal root and bridge 
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 HP:0008665 Hypertrophic clitoris 
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 HP:0010903 Abnormality of glutamine metabolism "An abnormality of a `glutamine metabolic process` (GO:0006541)." [HPO:probinson]
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 HP:0012202 increased serum bile acid concentration "An increase in the concentration of `bile acid` (CHEBI:3098) in the blood." [HPO:probinson]
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 HP:0100678 Wrinkled skin 
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 HP:0200128 Biventricular hypertrophy 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000177156 P37837 / TALDO1 / transaldolase 1  / complex






 

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