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Aliases for TPI1 Gene

Aliases for TPI1 Gene

  • Triosephosphate Isomerase 1 2 3 5
  • Triose-Phosphate Isomerase 3 4
  • EC 5.3.1.1 4 63
  • TIM 3 4
  • TPI 3 4
  • Epididymis Secretory Protein Li 49 3
  • HEL-S-49 3
  • TPID 3

External Ids for TPI1 Gene

Previous GeneCards Identifiers for TPI1 Gene

  • GC12M006995
  • GC12M007080
  • GC12P006855
  • GC12P006846
  • GC12P006979
  • GC12P006986
  • GC12P006992
  • GC12P006999
  • GC12P007007
  • GC12P007025
  • GC12P007048
  • GC12P007112
  • GC12P007138
  • GC12P006870
  • GC12P006871

Summaries for TPI1 Gene

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 hemolytic anemia due to triosephosphate isomerase deficiency and congenital hemolytic anemia. Among its related pathways are Carbon metabolism and Fructose and mannose metabolism. GO annotations related to this gene include ubiquitin protein ligase binding and triose-phosphate isomerase activity.

Gene Wiki entry for TPI1 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TPI1 Gene

Genomics for TPI1 Gene

Regulatory Elements for TPI1 Gene

Enhancers for TPI1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TPI1 on UCSC Golden Path with GeneCards custom track

Promoters for TPI1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TPI1 on UCSC Golden Path with GeneCards custom track

Genomic Location for TPI1 Gene

Chromosome:
12
Start:
6,867,119 bp from pter
End:
6,870,948 bp from pter
Size:
3,830 bases
Orientation:
Plus strand

Genomic View for TPI1 Gene

Genes around TPI1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TPI1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TPI1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TPI1 Gene

Proteins for TPI1 Gene

  • Protein details for TPI1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P60174-TPIS_HUMAN
    Recommended name:
    Triosephosphate isomerase
    Protein Accession:
    P60174
    Secondary Accessions:
    • B7Z5D8
    • D3DUS9
    • P00938
    • Q6FHP9
    • Q6IS07
    • Q8WWD0
    • Q96AG5

    Protein attributes for TPI1 Gene

    Size:
    286 amino acids
    Molecular mass:
    30791 Da
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=AAB51316.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAB59511.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH07086.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH07812.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH09329.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH11611.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH15100.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH17917.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH70129.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH70129.1; Type=Miscellaneous discrepancy; Note=Sequence differs at the C-terminus.; Evidence={ECO:0000305}; Sequence=AAN86636.1; Type=Frameshift; Positions=23; Evidence={ECO:0000305}; Sequence=BAG36090.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAA49379.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TPI1 Gene

    Alternative splice isoforms for TPI1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TPI1 Gene

Proteomics data for TPI1 Gene at MOPED

Post-translational modifications for TPI1 Gene

  • The initiator methionine for isoform 2 is removed.
  • Ubiquitination at Lys 6, Lys 14, Lys 33, Lys 59, Lys 69, Lys 85, Lys 113, Lys 131, Lys 149, Lys 156, Lys 160, Lys 175, Lys 188, Lys 219, and Lys 248
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for TPI1 Gene

Suggested Antigen Peptide Sequences for TPI1 Gene

Graphical View of Domain Structure for InterPro Entry

P60174

UniProtKB/Swiss-Prot:

TPIS_HUMAN :
  • Belongs to the triosephosphate isomerase family.
Family:
  • Belongs to the triosephosphate isomerase family.
genes like me logo Genes that share domains with TPI1: view

No data available for Gene Families for TPI1 Gene

Function for TPI1 Gene

Molecular function for TPI1 Gene

GENATLAS Biochemistry:
triosephosphate isomerase 1,homodimer with two identical subunits,26.8kDa,catalyzing the aldose-ketose isomerization of dihydroxyacetone phosphate and glyceraldehyde 3-phosphate
UniProtKB/Swiss-Prot CatalyticActivity:
D-glyceraldehyde 3-phosphate = glycerone phosphate.

Enzyme Numbers (IUBMB) for TPI1 Gene

Gene Ontology (GO) - Molecular Function for TPI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004807 triose-phosphate isomerase activity TAS 2579079
genes like me logo Genes that share ontologies with TPI1: view
genes like me logo Genes that share phenotypes with TPI1: view

Human Phenotype Ontology for TPI1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TPI1 Gene

MGI Knock Outs for TPI1:
  • Tpi1 tm1a(EUCOMM)Wtsi

Animal Model Products

No data available for Transcription Factor Targets and HOMER Transcription for TPI1 Gene

Localization for TPI1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TPI1 Gene COMPARTMENTS Subcellular localization image for TPI1 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 4
mitochondrion 3
cytoskeleton 2
chloroplast 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for TPI1 Gene

Pathways & Interactions for TPI1 Gene

genes like me logo Genes that share pathways with TPI1: view

UniProtKB/Swiss-Prot P60174-TPIS_HUMAN

  • Pathway: Carbohydrate biosynthesis; gluconeogenesis.
  • Pathway: Carbohydrate degradation; glycolysis; D-glyceraldehyde 3-phosphate from glycerone phosphate: step 1/1.

Gene Ontology (GO) - Biological Process for TPI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS --
GO:0006006 glucose metabolic process TAS --
GO:0006094 gluconeogenesis TAS --
GO:0006098 pentose-phosphate shunt IEA --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with TPI1: view

No data available for SIGNOR curated interactions for TPI1 Gene

Drugs & Compounds for TPI1 Gene

(35) Drugs for TPI1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
2-Methyl-2-Propanol Experimental Pharma Target 0
Phosphoglycolic acid Experimental Pharma Target 0
[2(Formyl-Hydroxy-Amino)-Ethyl]-Phosphonic Acid Experimental Pharma Target 0
1,3-Dihydroxyacetonephosphate Experimental Pharma Target 0
1,4-Dithiothreitol Experimental Pharma Target 0

(36) Additional Compounds for TPI1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Dihydroxyacetone phosphate
  • 1,3-Dihydroxy-2-Propanone mono(dihydrogen phosphate)
  • 1,3-Dihydroxy-2-propanone phosphate
  • 1,3-Dihydroxyacetone 1-phosphate
  • 1-Hydroxy-3-(phosphonooxy)-2-Propanone
  • 1-Hydroxy-3-(phosphonooxy)acetone
57-04-5
genes like me logo Genes that share compounds with TPI1: view

Transcripts for TPI1 Gene

Unigene Clusters for TPI1 Gene

Triosephosphate isomerase 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TPI1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b
SP1: - - - -
SP2: - - - - - - - -
SP3: - -
SP4:
SP5: -
SP6:

Relevant External Links for TPI1 Gene

GeneLoc Exon Structure for
TPI1
ECgene alternative splicing isoforms for
TPI1

Expression for TPI1 Gene

mRNA expression in normal human tissues for TPI1 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TPI1 Gene



SOURCE GeneReport for Unigene cluster for TPI1 Gene Hs.524219

genes like me logo Genes that share expression patterns with TPI1: view

Protein tissue co-expression partners for TPI1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TPI1 Gene

Orthologs for TPI1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TPI1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TPI1 35
  • 92.5 (n)
  • 97.59 (a)
TPI1 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TPI1 35
  • 93.17 (n)
  • 98.39 (a)
TPI1 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tpi1 35
  • 86.01 (n)
  • 90.91 (a)
Tpi1 16
Tpi1 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TPI1 35
  • 99.46 (n)
  • 100 (a)
TPI1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100911515 35
  • 85.78 (n)
  • 88.81 (a)
oppossum
(Monodelphis domestica)
Mammalia TPI1 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TPI1 36
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves TPI1 35
  • 79.57 (n)
  • 89.92 (a)
TPI1 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TPI1 36
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.3235 35
tpi1 35
  • 77.24 (n)
  • 84.55 (a)
African clawed frog
(Xenopus laevis)
Amphibia tpi-prov 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
tpi1a 35
  • 73.61 (n)
  • 80.82 (a)
tpi1a 36
  • 79 (a)
OneToMany
tpi1b 36
  • 81 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.557 35
fruit fly
(Drosophila melanogaster)
Insecta Tpi 37
  • 64 (a)
Tpi 35
  • 63.94 (n)
  • 63.42 (a)
Tpi 36
  • 46 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001630 35
  • 64.76 (n)
  • 68.57 (a)
worm
(Caenorhabditis elegans)
Secernentea tpi-1 37
  • 62 (a)
tpi-1 35
  • 60.84 (n)
  • 62.2 (a)
tpi-1 36
  • 61 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL201C 35
  • 57.99 (n)
  • 53.25 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F18832g 35
  • 55.1 (n)
  • 51.84 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TPI1 35
  • 55.28 (n)
  • 53.25 (a)
TPI1 36
  • 52 (a)
OneToOne
TPI1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons TPI 35
  • 60.7 (n)
  • 60.57 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.946 35
rice
(Oryza sativa)
Liliopsida Os.12602 35
Os01g0841600 35
  • 61.48 (n)
  • 61.07 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.27753 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4714 35
bread mold
(Neurospora crassa)
Ascomycetes NCU07550 35
  • 60.38 (n)
  • 58.2 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes tpi1 35
  • 56.93 (n)
  • 54.32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9540 36
  • 68 (a)
OneToOne
Species with no ortholog for TPI1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for TPI1 Gene

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

Paralogs for TPI1 Gene

Pseudogenes.org Pseudogenes for TPI1 Gene

genes like me logo Genes that share paralogs with TPI1: view

No data available for Paralogs for TPI1 Gene

Variants for TPI1 Gene

Sequence variations from dbSNP and Humsavar for TPI1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
VAR_007534 Triosephosphate isomerase deficiency (TPID)
VAR_007535 Triosephosphate isomerase deficiency (TPID)
VAR_007536 Triosephosphate isomerase deficiency (TPID)
VAR_007537 -
rs188138723 Triosephosphate isomerase deficiency (TPID) 6,869,693(+) ATAAC(A/G)TGAAG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for TPI1 Gene

Variant ID Type Subtype PubMed ID
nsv832324 CNV Loss 17160897
dgv1353n71 CNV Loss 21882294
nsv898641 CNV Loss 21882294
nsv898642 CNV Loss 21882294

Variation tolerance for TPI1 Gene

Residual Variation Intolerance Score: 42.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.72; 32.66% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TPI1 Gene

HapMap Linkage Disequilibrium report
TPI1
Human Gene Mutation Database (HGMD)
TPI1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TPI1 Gene

Disorders for TPI1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for TPI1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hemolytic anemia due to triosephosphate isomerase deficiency
  • triosephosphate isomerase deficiency
congenital hemolytic anemia
  • hereditary hemolytic anemia
giardiasis
  • beaver feaver
phosphoglycerate kinase deficiency
  • phosphoglycerate kinase 1 deficiency
molybdenum cofactor deficiency
  • combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase
- elite association - COSMIC cancer census association via MalaCards
Search TPI1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TPIS_HUMAN
  • 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. {ECO:0000269 PubMed:2876430, ECO:0000269 PubMed:8503454, ECO:0000269 PubMed:8571957, ECO:0000269 PubMed:9338582, ECO:0000269 Ref.34}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for TPI1 Gene

hemolytic anemia

Relevant External Links for TPI1

Genetic Association Database (GAD)
TPI1
Human Genome Epidemiology (HuGE) Navigator
TPI1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TPI1
genes like me logo Genes that share disorders with TPI1: view

Publications for TPI1 Gene

  1. Sequencing and genotypic analysis of the triosephosphate isomerase (TPI1) locus in a large sample of long-lived Germans. (PMID: 18510744) Ralser M. … Timmermann B. (BMC Genet. 2008) 3 23 48 67
  2. Identification of triosephosphate isomerase as an anti-drug resistance agent in human gastric cancer cells using functional proteomic analysis. (PMID: 18309519) Wang X. … Fan D. (J. Cancer Res. Clin. Oncol. 2008) 3 23
  3. Structural basis of human triosephosphate isomerase deficiency: mutation E104D is related to alterations of a conserved water network at the dimer interface. (PMID: 18562316) Rodriguez-Almazan C. … Torres-Larios A. (J. Biol. Chem. 2008) 3 23
  4. wasted away, a Drosophila mutation in triosephosphate isomerase, causes paralysis, neurodegeneration, and early death. (PMID: 17008404) Gnerer J.P. … Ganetzky B. (Proc. Natl. Acad. Sci. U.S.A. 2006) 3 23
  5. Triosephosphate isomerase- and glyceraldehyde-3-phosphate dehydrogenase-reactive autoantibodies in the cerebrospinal fluid of patients with multiple sclerosis. (PMID: 17015754) Kolln J. … Qin Y. (J. Immunol. 2006) 3 23

Products for TPI1 Gene

Sources for TPI1 Gene

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