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TPI1 Gene

protein-coding   GIFtS: 71
GCID: GC12P007138

Triosephosphate Isomerase 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Triosephosphate Isomerase 11 2     TPID2 5
Triose-Phosphate Isomerase2 3     HEL-S-492
TIM2 3     Epididymis Secretory Protein Li 492
TPI2 3     Triosephosphate Isomerase2
EC 5.3.1.13 8     

External Ids:    HGNC: 120091   Entrez Gene: 71672   Ensembl: ENSG000001116697   OMIM: 1904505   UniProtKB: P601743   

Export aliases for TPI1 gene to outside databases

Previous GC identifers: GC12M006995 GC12M007080 GC12P006855 GC12P006846 GC12P006979 GC12P006986 GC12P006992 GC12P006999 GC12P007007 GC12P007025 GC12P007048 GC12P007112


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TPI1 Gene:
This gene encodes an enzyme, consisting of two identical proteins, which catalyzes the isomerization of
glyceraldehydes 3-phosphate (G3P) and dihydroxy-acetone phosphate (DHAP) in glycolysis and gluconeogenesis.
Mutations in this gene are associated with triosephosphate isomerase deficiency. Pseudogenes have been identified
on chromosomes 1, 4, 6 and 7. Alternative splicing results in multiple transcript variants. (provided by RefSeq,
Apr 2009)

GeneCards Summary for TPI1 Gene:
TPI1 (triosephosphate isomerase 1) is a protein-coding gene. Diseases associated with TPI1 include giardiasis, and hemolytic anemia due to triosephosphate isomerase deficiency. GO annotations related to this gene include triose-phosphate isomerase activity.

Gene Wiki entry for TPI1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000012.12  NC_018923.2  NT_009759.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the TPI1 gene promoter:
         c-Fos   PPAR-gamma1   AP-1   ATF-2   PPAR-gamma2   c-Jun   c-Ets-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTPI1 promoter sequence
   Search Chromatin IP Primers for TPI1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TPI1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12p13   Ensembl cytogenetic band:  12p13.31   HGNC cytogenetic band: 12p13.31

TPI1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TPI1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P007138:  view genomic region     (about GC identifiers)

Start:
6,976,283 bp from pter      End:
6,980,112 bp from pter
Size:
3,830 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TPIS_HUMAN, P60174 (See protein sequence)
Recommended Name: Triosephosphate isomerase  
Size: 286 amino acids; 30791 Da
Subunit: Homodimer
Sequence caution: Sequence=AAB51316.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAB59511.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH07086.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH07812.1; Type=Erroneous
initiation; Note=Translation N-terminally extended; Sequence=AAH09329.1; Type=Erroneous initiation;
Note=Translation N-terminally extended; Sequence=AAH11611.1; Type=Erroneous initiation; Note=Translation
N-terminally extended; Sequence=AAH15100.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAH17917.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH70129.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH70129.1; Type=Miscellaneous
discrepancy; Note=Sequence differs at the C-terminus; Sequence=AAN86636.1; Type=Frameshift; Positions=23;
Sequence=BAG36090.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAA49379.1;
Type=Erroneous initiation; Note=Translation N-terminally extended;
Selected PDB 3D structures from and Proteopedia for TPI1 (see all 8):
1HTI (3D)        1WYI (3D)        2IAM (3D)        2IAN (3D)        2JK2 (3D)        2VOM (3D)    
Secondary accessions: B7Z5D8 D3DUS9 P00938 Q6FHP9 Q6IS07 Q8WWD0 Q96AG5
Alternative promoter usage, Alternative splicing: 3 isoforms:  P60174-3   P60174-1   P60174-4   (Produced by alternative splicing)

Explore the universe of human proteins at neXtProt for TPI1: NX_P60174

Explore proteomics data for TPI1 at MOPED

Post-translational modifications: 

  • The initiator methionine for isoform 2 is removed1
  • Ubiquitination2 at Lys6, Lys14, Lys19, Lys33, Lys59, Lys69, Lys85, Lys113, Lys131, Lys142,
                                 Lys149, Lys156, Lys160, Lys175, Lys188, Lys194, Lys219, Lys238, Lys248
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for TPI1 (P60174) (see all 22)
     CKELASQ  NGAFTGE  GNWKMNG  DTEVVCA 


    See TPI1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_000356.1  NP_001152759.1  NP_001244955.1  

    ENSEMBL proteins: 
     ENSP00000229270   ENSP00000379933   ENSP00000475620   ENSP00000475364   ENSP00000475184  
     ENSP00000475829   ENSP00000443599  
    Reactome Protein details: P60174

    TPI1 Human Recombinant Protein Products:

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    Novus Biologicals TPI1 Proteins
    Novus Biologicals TPI1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for TPI1
    Cloud-Clone Corp. Proteins for TPI1

    TPI1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for TPI1
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    ThermoFisher Antibody for TPI1
    LSBio Antibodies in human, mouse, rat for TPI1

    TPI1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for TPI1
    Cloud-Clone Corp. CLIAs for TPI1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR020861 Triosephosphate_isomerase_AS
     IPR013785 Aldolase_TIM
     IPR000652 Triosephosphate_isomerase
     IPR022896 TrioseP_Isoase_bac/euk

    Graphical View of Domain Structure for InterPro Entry P60174

    ProtoNet protein and cluster: P60174

    UniProtKB/Swiss-Prot: TPIS_HUMAN, P60174
    Similarity: Belongs to the triosephosphate isomerase family


    TPI1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TPIS_HUMAN, P60174
    Catalytic activity: D-glyceraldehyde 3-phosphate = glycerone phosphate

         Genatlas biochemistry entry for TPI1:
    triosephosphate isomerase 1,homodimer with two identical subunits,26.8kDa,catalyzing the aldose-ketose
    isomerization of dihydroxyacetone phosphate and glyceraldehyde 3-phosphate

         Enzyme Number (IUBMB): EC 5.3.1.11 2

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004807triose-phosphate isomerase activity TAS2579079
    GO:0005515protein binding IPI--
    GO:0016853isomerase activity ----
         
    TPI1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TPI1:
     Decreased viability of wild-ty 

         5 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Tpi1):
     hematopoietic system  homeostasis/metabolism  immune system  mortality/aging  normal 

    TPI1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TPI1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TPI1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TPI1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TPI1

    miRNA
    Products:
        
    miRTarBase miRNAs that target TPI1:
    hsa-mir-320b (MIRT036219), hsa-mir-30a-5p (MIRT049943), hsa-mir-320a (MIRT044651), hsa-mir-15a-5p (MIRT000808), hsa-mir-125a-5p (MIRT045713), hsa-mir-16-5p (MIRT000807), hsa-mir-193b-3p (MIRT041278), hsa-mir-195-5p (MIRT044870), hsa-mir-331-3p (MIRT043300), hsa-mir-10a-5p (MIRT047515), hsa-mir-615-3p (MIRT039754)

    Block miRNA regulation of human, mouse, rat TPI1 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate TPI1:
    hsa-miR-2114
    SwitchGear 3'UTR luciferase reporter plasmidTPI1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for TPI1
    Predesigned siRNA for gene silencing in human, mouse, rat TPI1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for TPI1

    Clone
    Products:
         
    OriGene clones in human, mouse for TPI1 (see all 12)
    OriGene ORF clones in mouse, rat for TPI1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): TPI1 (NM_000365)
    Sino Biological Human cDNA Clone for TPI1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TPI1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TPI1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for TPI1
    Browse ESI BIO Cell Lines and PureStem Progenitors for TPI1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TPI1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    mitochondrion3
    chloroplast2
    cytoskeleton2
    nucleus2
    extracellular1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA--
    GO:0005829cytosol TAS--
    GO:0070062extracellular vesicular exosome IDA19056867

    TPI1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for TPI1 About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Glycolysis and gluconeogenesis short map
    Glycolysis and gluconeogenesis short map 0.60
    Glycolysis / Gluconeogenesis0.46
    Glycolysis and Gluconeogenesis0.60
    Glycolysis0.40
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Glucose metabolism
    Glucose metabolism0.44
    Gluconeogenesis0.44
    4Carbon metabolism
    Carbon metabolism0.38
    Biosynthesis of amino acids0.38
    5Inositol phosphate metabolism (KEGG)
    Inositol phosphate metabolism0.61

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for TPI1
        Glycolysis and gluconeogenesis (short map)

    2 BioSystems Pathways for TPI1
        Glycolysis and Gluconeogenesis
    Fatty Acid Beta Oxidation


    2 Reactome Pathways for TPI1
        Gluconeogenesis
    Glycolysis


    Selected Kegg Pathways  (Kegg details for TPI1) (see all 6):
        Glycolysis / Gluconeogenesis
    Fructose and mannose metabolism
    Inositol phosphate metabolism
    Metabolic pathways
    Carbon metabolism

    UniProtKB/Swiss-Prot: TPIS_HUMAN, P60174
    Pathway: Carbohydrate biosynthesis; gluconeogenesis
    Pathway: Carbohydrate degradation; glycolysis; D-glyceraldehyde 3-phosphate from glycerone phosphate: step 1/1


    TPI1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TPI1: 

              Hypoxia Signaling Pathway in human mouse rat
              Glucose Metabolism in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TPI1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for TPI1 (P601741, 2, 3 ENSP000003799334) via UniProtKB, MINT, STRING, and/or I2D (see all 125)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PCNAP120041, 2, 3EBI-717475,EBI-358311 MINT-7995122 MINT-7995114 I2D: score=2 
    CCL11P516712, 3, ENSP000003022344MINT-63914 I2D: score=4 STRING: ENSP00000302234
    LIPT1Q9Y2342, 3, ENSP000003420714MINT-63916 I2D: score=4 STRING: ENSP00000342071
    DDX24Q9GZR72, 3MINT-65411 I2D: score=5 
    SETDB1Q150472, 3MINT-63915 I2D: score=5 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006006glucose metabolic process TAS--
    GO:0006094gluconeogenesis TAS--
    GO:0006096glycolytic process TAS--
    GO:0006098pentose-phosphate shunt IEA--

    TPI1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TPI1 (TPIS)

    3 HMDB Compounds for TPI1    About this table
    CompoundSynonyms CAS #PubMed Ids
    D-Glyceraldehyde 3-phosphate2-hydroxy-3-(phosphonooxy)-Propanal (see all 11)142-10-9--
    Dihydroxyacetone phosphate1,3-Dihydroxy-2-propanone phosphate (see all 17)57-04-5--
    Phosphoglycolic acid(Phosphonooxy)acetate (see all 13)13147-57-4--

    Selected DrugBank Compounds for TPI1 (see all 12)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    1,3-Dihydroxyacetonephosphate-- --target--17139284 17016423 10592235
    1,4-Dithiothreitol-- --target--17139284 17016423 10592235
    2-Carboxyethylphosphonic Acid-- --target--17139284 17016423 10592235
    2-Methyl-2-Propanol-- --target--17139284 17016423 10592235
    2-Phosphoglycolic Acid-- 13147-57-4target--17139284 17016423 10592235
    3-Phosphoglyceric Acid-- --target--17139284 17016423 10592235
    Fluorotryptophane-- 16626-02-1target--17139284 17016423 10592235
    N-Hydroxy-4-Phosphono-Butanamide-- 146086-80-8target--17139284 17016423 10592235
    Phosphoglycolohydroxamic Acid-- 51528-59-7target--17139284 17016423 10592235
    [2(Formyl-Hydroxy-Amino)-Ethyl]-Phosphonic Acid-- --target--17139284 17016423 10592235

    Selected Novoseek inferred chemical compound relationships for TPI1 gene (see all 53)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glyceraldehyde 3-phosphate 97.6 766 19737146 (8), 9843453 (5), 9684881 (5), 2170094 (4) (see all 99)
    phosphoglycolohydroxamate 91.8 17 9398185 (2), 8745400 (1), 2043623 (1), 11389594 (1) (see all 6)
    dhap 91.3 69 8944178 (4), 9843453 (4), 9125215 (2), 9850739 (2) (see all 28)
    phosphoglycolate 82.6 29 10715115 (5), 16919384 (2), 8745400 (1), 17336327 (1) (see all 8)
    fructose-1,6-bisphosphate 68.3 2 9462297 (1), 15794763 (1)
    3-phosphoglycerate 65.6 7 9843453 (1), 18510554 (1), 9579064 (1), 16707281 (1) (see all 5)
    methylglyoxal 65.6 11 14559119 (3), 12475328 (2), 11389594 (2), 14631822 (1) (see all 5)
    thioproline 56.6 1 7809097 (1)
    glycerol 3-phosphate 51.2 8 7599123 (1), 11741702 (1), 1552474 (1), 16953564 (1)
    2-phosphoglycerate 50.4 2 1895291 (2)



    TPI1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TPI1 gene (3 alternative transcripts): 
    NM_000365.5  NM_001159287.1  NM_001258026.1  

    Unigene Cluster for TPI1:

    Triosephosphate isomerase 1
    Hs.524219  [show with all ESTs]
    Unigene Representative Sequence: BM913099
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000229270(uc001qrk.3) ENST00000396705 ENST00000488464 ENST00000493987
    ENST00000462761 ENST00000495834 ENST00000482209 ENST00000474253 ENST00000535434(uc010sfo.2)

    miRNA
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    1 qRT-PCR Assays for microRNA that regulate TPI1:
    hsa-miR-2114
    SwitchGear 3'UTR luciferase reporter plasmidTPI1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat TPI1
    Clone
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    OriGene ORF clones in mouse, rat for TPI1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): TPI1 (NM_000365)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TPI1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TPI1
    Primer
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    OriGene qPCR primer pairs and template standards for TPI1
    OriGene qSTAR qPCR primer pairs in human, mouse for TPI1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TPI1
      QuantiTect SYBR Green Assays in human, mouse, rat TPI1
      QuantiFast Probe-based Assays in human, mouse, rat TPI1

    Additional mRNA sequence: 

    AK129488.1 AK222638.1 AK298809.1 AK300661.1 AK313282.1 BC007086.1 BC007812.2 BC009329.2 
    BC011611.2 BC015100.1 BC017165.1 BC017917.1 BC018899.1 BC070129.1 CR541702.1 

    Selected DOTS entries (see all 85):

    DT.92368293  DT.91947326  DT.100717503  DT.91830620  DT.98131972  DT.100857802  DT.91825337  DT.95361718 
    DT.121157936  DT.121157978  DT.95361864  DT.87012471  DT.91777763  DT.91914166  DT.121157680  DT.98083687 
    DT.121372692  DT.100717497  DT.100717491  DT.95361878  DT.121157750  DT.121157955  DT.91975996  DT.98131974 

    Selected AceView cDNA sequences (see all 36):

    CR597650 CR616257 CR618326 CR604097 CR625901 BC007086 CR620313 CR612200 
    CR617208 CR591142 CR595027 CR541702 CR598153 CR604095 CR595384 CR597755 
    CR594819 AK129488 BC009329 CR611677 CR610831 CR622790 CR626424 CR620677 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TPI1 (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b
    SP1:              -     -                                   -           -                           
    SP2:              -     -                       -     -     -     -     -     -                     
    SP3:                                                        -           -                           
    SP4:                                                                                                
    SP5:                    -                                                                           


    ECgene alternative splicing isoforms for TPI1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TPI1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGAGGGAATA
    TPI1 Expression
    About this image


    TPI1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 20) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Stem Bronchi
     
     Eye (Sensory Organs)
             Lens
     
     Bone (Muscoskeletal System)
             Bone Marrow
    TPI1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TPI1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.524219
        Pathway & Disease-focused RT2 Profiler PCR Arrays including TPI1: 
              Hypoxia Signaling Pathway in human mouse rat
              Glucose Metabolism in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for TPI1 gene from Selected species (see all 29)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tpi11 , 5 triosephosphate isomerase 11, 5 86.01(n)1
    90.91(a)1
      6 (59.17 cM)5
    219911  NM_009415.21  NP_033441.21 
     1248105865 
    chicken
    (Gallus gallus)
    Aves TPI11 triosephosphate isomerase 1 79.57(n)
    89.92(a)
      396435  NM_205451.1  NP_990782.1 
    lizard
    (Anolis carolinensis)
    Reptilia TPI16
    triosephosphate isomerase 1
    88(a)
    1 ↔ 1
    GL343453.1(452071-466160)
    African clawed frog
    (Xenopus laevis)
    Amphibia tpi-prov2 triosephosphate isomerase 78.56(n)    BC046864.1 
    zebrafish
    (Danio rerio)
    Actinopterygii NM_153668.22   -- 79(n)   192310  NM_153668.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Tpi1 , 3 triose-phosphate isomerase3
    Triose phosphate isomerase1
    64(a)3
    63.94(n)1
    63.42(a)1
      3 99D83
    435821  NM_176587.21  NP_788764.11 
    worm
    (Caenorhabditis elegans)
    Secernentea tpi-11 , 3 Triosephosphate isomerase3
    tpi-11
    62(a)3
    60.84(n)1
    62.2(a)1
      II(12037071-12039229)3
    1748441  NM_064162.41  NP_496563.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes TPI1(YDR050C)4
    TPI11
    Triose phosphate isomerase, abundant glycolytic enzyme; more4
    TPI11
    55.28(n)1
    53.25(a)1
      4(556472-555726)4
    8516201, 4  NP_010335.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons TPI1 TPI 60.7(n)
    60.57(a)
      824710  NM_115402.3  NP_191104.1 
    rice
    (Oryza sativa)
    Liliopsida Os.126022 Oryza sativa triosephosphate isomerase (Rictpi) mRNA, more 70.95(n)    AK060920.1 


    ENSEMBL Gene Tree for TPI1 (if available)
    TreeFam Gene Tree for TPI1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TPI1 gene

    TPI1 for paralogs           About GeneDecksing


    4 Pseudogenes.org Pseudogenes for TPI1
    PGOHUM00000244760 PGOHUM00000257074 PGOHUM00000243749 PGOHUM00000233566


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TPI1 (see all 212)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1881387231,2,,4
    CTriosephosphate isomerase deficiency (TPID)4 --6910291(+) ATAACA/GTGAAG 6 M V mis10--------
    VAR_0075414
    Triosephosphate isomerase deficiency (TPID)4--see VAR_0075412 F L mis40--------
    VAR_0075394
    Triosephosphate isomerase deficiency (TPID)4--see VAR_0075392 I V mis40--------
    VAR_0075344
    Triosephosphate isomerase deficiency (TPID)4--see VAR_0075342 C Y mis40--------
    VAR_0075364
    Triosephosphate isomerase deficiency (TPID)4--see VAR_0075362 E D mis40--------
    VAR_0075404
    Triosephosphate isomerase deficiency (TPID)4--see VAR_0075402 V M mis40--------
    VAR_0075354
    Triosephosphate isomerase deficiency (TPID)4--see VAR_0075352 G A mis40--------
    rs1219648451,2
    Cpathogenic16909772(+) GGGGAG/CTCAGA 6 /D /E mis11Minor allele frequency- C:0.00EU 1265
    rs776255651,2
    C--6906070(+) GCCCAC/GGCTGG 1 -- us2k10--------
    rs1385261561,2
    --6906178(+) TTGTAA/GATAAA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for TPI1 (6976283 - 6980112 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for TPI1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv898642CNV Loss21882294
    nsv898641CNV Loss21882294
    dgv1353n71CNV Loss21882294
    nsv832324CNV Loss17160897

    Human Gene Mutation Database (HGMD): TPI1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TPI1
    DNA2.0 Custom Variant and Variant Library Synthesis for TPI1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 190450   
    OMIM disorders: 615512  
    UniProtKB/Swiss-Prot: TPIS_HUMAN, P60174
  • Triosephosphate isomerase deficiency (TPID) [MIM:615512]: An autosomal recessive multisystem disorder
    characterized by congenital hemolytic anemia, progressive neuromuscular dysfunction, susceptibility to bacterial
    infection, and cardiomyopathy. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • Selected diseases for TPI1 (see all 54):    
    About MalaCards
    giardiasis    hemolytic anemia due to triosephosphate isomerase deficiency    triose phosphate-isomerase deficiency    paracoccidioidomycosis
    congenital hemolytic anemia    hepatitis a    molybdenum cofactor deficiency    neonatal jaundice
    axonal neuropathy    hemolytic anemia    visceral leishmaniasis    lung squamous cell carcinoma
    malaria    schistosomiasis    leishmaniasis    leber congenital amaurosis
    endocarditis    hypotonia    myopathy    lupus erythematosus

    2 diseases from the University of Copenhagen DISEASES database for TPI1:
    Giardiasis     Anemia

    TPI1 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for TPI1 gene (see all 37)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    enzymopathy 77.3 8 18458110 (1), 14977172 (1), 16980388 (1), 8579052 (1) (see all 6)
    anemia hemolytic congenital 70.5 1 9842650 (1)
    pgk deficiency 68 4 10699493 (2), 8629088 (1)
    anemia hemolytic 63.7 20 10699493 (2), 1959537 (2), 8244340 (1), 10782327 (1) (see all 12)
    giardiasis 59.5 2 16333079 (1), 11825955 (1)
    enzyme deficiency 54.7 5 8244340 (1), 12023819 (1), 14977172 (1), 11196750 (1)
    paracoccidioidomycosis 38 1 15310465 (1)
    hepatitis a acute 34.9 1 7984967 (1)
    infectious mononucleosis 33 3 2170094 (1), 8923293 (1), 1466197 (1)
    hemolysis 31.5 7 2170094 (2), 9261072 (1), 7901638 (1), 8923293 (1) (see all 6)

    Genatlas disease: TPI1
    hemolytic anemia

    Genetic Association Database (GAD): TPI1
    Human Genome Epidemiology (HuGE) Navigator: TPI1 (2 documents)

    Export disorders for TPI1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TPI1 gene, integrated from 10 sources (see all 355):
    (articles sorted by number of sources associating them with TPI1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Sequencing and genotypic analysis of the triosephosphate isomerase (TPI1) locus in a large sample of long-lived Germans. (PubMed id 18510744)1, 4, 9 Ralser M....Timmermann B. (BMC Genet. 2008)
    2. Human triosephosphate isomerase deficiency resulting from mutation of Phe-240. (PubMed id 8503454)1, 2, 9 Chang M.-L.... Maquat L.E. (Am. J. Hum. Genet. 1993)
    3. Evidence for founder effect of the Glu104Asp substitution and identification of new mutations in triosephosphate isomerase deficiency. (PubMed id 9338582)1, 2, 9 Arya R.... Layton D.M. (Hum. Mutat. 1997)
    4. Crystal structure of recombinant human triosephosphate isomerase at 2.8-A resolution. Triosephosphate isomerase-related human genetic disorders and comparison with the trypanosomal enzyme. (PubMed id 8061610)1, 2, 9 Mande S.C....Hol W.G.J. (Protein Sci. 1994)
    5. Structural basis of human triosephosphate isomerase deficiency: mutation E104D is related to alterations of a conserved water network at the dimer interface. (PubMed id 18562316)1, 2, 9 Rodriguez-Almazan C.... Torres-Larios A. (J. Biol. Chem. 2008)
    6. Molecular analysis of a series of alleles in humans with reduced activity at the triosephosphate isomerase locus. (PubMed id 8571957)1, 2, 9 Watanabe M.... Mohrenweiser H.W. (Am. J. Hum. Genet. 1996)
    7. Human triosephosphate isomerase: substitution of Arg for Gly at position 122 in a thermolabile electromorph variant, TPI-Manchester. (PubMed id 1339398)1, 2, 9 Perry B.A. and Mohrenweiser H.W. (Hum. Genet. 1992)
    8. Analysis of TPI gene promoter variation in three sub-Saharan Africa population samples. (PubMed id 18792062)1, 4 Manco L....Arez A.P. (Am. J. Hum. Biol. 2009)
    9. Phosphoproteomic analysis of the human pituitary. (PubMed id 16807684)1, 2 Beranova-Giorgianni S.... Giorgianni F. (Pituitary 2006)
    10. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 7167 HGNC: 12009 AceView: TPI1 Ensembl:ENSG00000111669 euGenes: HUgn7167
    ECgene: TPI1 Kegg: 7167 H-InvDB: TPI1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TPI1 Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Triosephosphate_isomerase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TPI1 gene:
    Search GeneIP for patents involving TPI1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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