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Aliases for TPI1 Gene

Aliases for TPI1 Gene

  • Triosephosphate Isomerase 1 2 3
  • Triose-Phosphate Isomerase 3 4
  • EC 5.3.1.1 4 63
  • TPID 3 6
  • TIM 3 4
  • TPI 3 4
  • Epididymis Secretory Protein Li 49 3
  • Triosephosphate Isomerase 3
  • HEL-S-49 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

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 giardiasis. Among its related pathways are Metabolism and Carbon metabolism. GO annotations related to this gene include 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for TPI1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Lys6, Lys14, Lys19, Lys33, Lys59, Lys69, Lys85, Lys113, Lys131, Lys142, Lys149, Lys156, Lys160, Lys175, Lys188, Lys194, Lys219, Lys238, and Lys248
  • Modification sites at PhosphoSitePlus

Other Protein References for TPI1 Gene

Domains for TPI1 Gene

Suggested Antigen Peptide Sequences for TPI1 Gene

Graphical View of Domain Structure for InterPro Entry

P60174

UniProtKB/Swiss-Prot:

TPIS_HUMAN :
  • P60174
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
GO:0005515 protein binding IPI 20849852
GO:0016853 isomerase activity --
GO:0031625 ubiquitin protein ligase binding IPI 19725078
genes like me logo Genes that share ontologies with TPI1: view
genes like me logo Genes that share phenotypes with TPI1: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TPI1

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targeting 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
cytosol 4
mitochondrion 3
chloroplast 2
cytoskeleton 2
nucleus 2
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TPI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 16502470
GO:0005634 nucleus IDA 21630459
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with TPI1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for TPI1 Gene

Pathways for TPI1 Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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:0006096 glycolytic process --
GO:0006098 pentose-phosphate shunt IEA --
genes like me logo Genes that share ontologies with TPI1: view

Compounds for TPI1 Gene

(3) HMDB Compounds for TPI1 Gene

Compound Synonyms Cas Number PubMed IDs
D-Glyceraldehyde 3-phosphate
  • 2-hydroxy-3-(phosphonooxy)-Propanal
142-10-9
Dihydroxyacetone phosphate
  • 1,3-Dihydroxy-2-propanone phosphate
57-04-5
Phosphoglycolic acid
  • (Phosphonooxy)acetate
13147-57-4

(53) Novoseek inferred chemical compound relationships for TPI1 Gene

Compound -log(P) Hits PubMed IDs
glyceraldehyde 3-phosphate 97.6 235
phosphoglycolohydroxamate 91.8 7
dhap 91.3 38
phosphoglycolate 82.6 13
fructose-1,6-bisphosphate 68.3 2
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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TPI1

Primer Products

Flow Cytometry Products

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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 expressions with TPI1: view

In Situ Assay Products

No data available for mRNA 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
chimpanzee
(Pan troglodytes)
Mammalia TPI1 35
  • 99.46 (n)
  • 100 (a)
TPI1 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia TPI1 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TPI1 36
  • 65 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100911515 35
  • 85.78 (n)
  • 88.81 (a)
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
African clawed frog
(Xenopus laevis)
Amphibia tpi-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.3235 35
tpi1 35
  • 77.24 (n)
  • 84.55 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.557 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
tpi1a 35
  • 73.61 (n)
  • 80.82 (a)
tpi1a 36
  • 79 (a)
OneToMany
tpi1b 36
  • 81 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001630 35
  • 64.76 (n)
  • 68.57 (a)
fruit fly
(Drosophila melanogaster)
Insecta Tpi 35
  • 63.94 (n)
  • 63.42 (a)
Tpi 36
  • 46 (a)
OneToOne
Tpi 37
  • 64 (a)
worm
(Caenorhabditis elegans)
Secernentea tpi-1 35
  • 60.84 (n)
  • 62.2 (a)
tpi-1 36
  • 61 (a)
OneToOne
tpi-1 37
  • 62 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL201C 35
  • 57.99 (n)
  • 53.25 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TPI1 35
  • 55.28 (n)
  • 53.25 (a)
TPI1 36
  • 52 (a)
OneToOne
TPI1 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F18832g 35
  • 55.1 (n)
  • 51.84 (a)
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
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 intestinalis)
Ascidiacea Cin.4714 35
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 MAF
rs12692 -- 6,870,422(+) CCAGG(A/G)ACTAA utr-variant-3-prime
rs1800200 -- 6,867,524(+) CCGCG(A/G)CTGCG upstream-variant-2KB, reference, synonymous-codon
rs1800201 -- 6,867,521(+) TGGCC(A/G)CGACT upstream-variant-2KB, synonymous-codon, reference
rs1800202 -- 6,867,505(+) CTATA(G/T)AAGTG upstream-variant-2KB, missense, reference
rs1804542 -- 6,870,270(+) GCTCT(A/G)TGACT missense, reference

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

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

(1) OMIM Diseases for TPI1 Gene (190450)

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.33}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for TPI1 Gene

(37) Novoseek inferred disease relationships for TPI1 Gene

Disease -log(P) Hits PubMed IDs
enzymopathy 77.3 6
anemia hemolytic congenital 70.5 1
pgk deficiency 68 3
anemia hemolytic 63.7 14
giardiasis 59.5 2

Genatlas disease for TPI1 Gene

Hemolytic anemia

Relevant External Links for TPI1

Genetic Association Database (GAD)
TPI1
Human Genome Epidemiology (HuGE) Navigator
TPI1
genes like me logo Genes that share disorders with TPI1: view

Publications for TPI1 Gene

  1. Human triosephosphate isomerase: substitution of Arg for Gly at position 122 in a thermolabile electromorph variant, TPI-Manchester. (PMID: 1339398) Perry B.A. … Mohrenweiser H.W. (Hum. Genet. 1992) 3 4 23
  2. Molecular analysis of a series of alleles in humans with reduced activity at the triosephosphate isomerase locus. (PMID: 8571957) Watanabe M. … Mohrenweiser H.W. (Am. J. Hum. Genet. 1996) 3 4 23
  3. Crystal structure of recombinant human triosephosphate isomerase at 2.8-A resolution. Triosephosphate isomerase-related human genetic disorders and comparison with the trypanosomal enzyme. (PMID: 8061610) Mande S.C. … Hol W.G.J. (Protein Sci. 1994) 3 4 23
  4. Evidence for founder effect of the Glu104Asp substitution and identification of new mutations in triosephosphate isomerase deficiency. (PMID: 9338582) Arya R. … Layton D.M. (Hum. Mutat. 1997) 3 4 23
  5. Human triosephosphate isomerase deficiency resulting from mutation of Phe-240. (PMID: 8503454) Chang M.-L. … Maquat L.E. (Am. J. Hum. Genet. 1993) 3 4 23

Products for TPI1 Gene

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