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 res... See more...

Aliases for TPI1 Gene

Aliases for TPI1 Gene

  • Triosephosphate Isomerase 1 2 3 5
  • Triose-Phosphate Isomerase 3 4
  • Triosephosphate Isomerase 3 4
  • Methylglyoxal Synthase 3 4
  • EC 5.3.1.1 4 51
  • TIM 3 4
  • TPI 3 4
  • Epididymis Secretory Protein Li 49 3
  • EC 4.2.3.3 4
  • HEL-S-49 3
  • TPID 3
  • TPI1 5

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
  • GC12P006892
  • GC12P006910
  • GC12P006867
  • GC12P006874
  • GC12P006876
  • GC12P006877
  • GC12P006878
  • GC12P006879
  • GC12P006880
  • GC12P006883
  • GC12P006889

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 Triosephosphate Isomerase Deficiency and Giardiasis. Among its related pathways are Glucose metabolism and Fructose and mannose metabolism. Gene Ontology (GO) annotations related to this gene include ubiquitin protein ligase binding and triose-phosphate isomerase activity.

UniProtKB/Swiss-Prot Summary for TPI1 Gene

  • Triosephosphate isomerase is an extremely efficient metabolic enzyme that catalyzes the interconversion between dihydroxyacetone phosphate (DHAP) and D-glyceraldehyde-3-phosphate (G3P) in glycolysis and gluconeogenesis.
  • It is also responsible for the non-negligible production of methylglyoxal a reactive cytotoxic side-product that modifies and can alter proteins, DNA and lipids.

Gene Wiki entry for TPI1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TPI1 Gene

Genomics for TPI1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TPI1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TPI1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TPI1

Top Transcription factor binding sites by QIAGEN in the TPI1 gene promoter:
  • AP-1
  • ATF-2
  • c-Ets-1
  • c-Fos
  • c-Jun
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for TPI1 Gene

Genomic Locations for TPI1 Gene
chr12:6,866,834-6,870,948
(GRCh38/hg38)
Size:
4,115 bases
Orientation:
Plus strand
chr12:6,976,283-6,980,112
(GRCh37/hg19)
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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAB59511.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH07086.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH07812.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH09329.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH11611.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH15100.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH17917.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH70129.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH70129.1; Type=Miscellaneous discrepancy; Note=Sequence differs at the C-terminus.; Evidence={ECO:0000305}; Sequence=AAN86636.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAG36090.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAA49379.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 4]: Produced by alternative splicing.

    Three dimensional structures from OCA and Proteopedia for TPI1 Gene

    Alternative splice isoforms for TPI1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TPI1 Gene

Selected DME Specific Peptides for TPI1 Gene

P60174:
  • IADNVKDW
  • TLNAAKVP
  • ATPQQAQ
  • AYEPVWAIG
  • FGESDELI
  • CKELASQ
  • YEPVWAIGTG
  • GNWKMNG
  • DTEVVCA
  • LVGGASLK
  • VAAQNCY
  • GHSERRH
  • RKFFVGGNWK
  • GASLKPEF
  • NGAFTGE
  • ACIGEKLDEREAGITE
  • DFARQKLD
  • VIACIGE
  • GAFTGEI
  • WAIGTGKT
  • LGHSERR
  • RIIYGGS

Post-translational modifications for TPI1 Gene

  • The initiator methionine for isoform 2 is removed.
  • Ubiquitination at Lys43, Lys51, Lys56, Lys150, Lys70, Lys168, Lys96, Lys179, Lys186, Lys106, Lys193, Lys197, Lys122, Lys212, Lys225, Lys231, Lys256, Lys275, and Lys285
  • Modification sites at PhosphoSitePlus

Domains & Families for TPI1 Gene

Gene Families for TPI1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for TPI1 Gene

GenScript: Design optimal peptide antigens:
  • Triosephosphate isomerase (B7Z5D8_HUMAN)
  • Triosephosphate isomerase (D3DUS9_HUMAN)
  • Triose-phosphate isomerase (TPIS_HUMAN)

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

Function for TPI1 Gene

Molecular function for TPI1 Gene

UniProtKB/Swiss-Prot Function:
Triosephosphate isomerase is an extremely efficient metabolic enzyme that catalyzes the interconversion between dihydroxyacetone phosphate (DHAP) and D-glyceraldehyde-3-phosphate (G3P) in glycolysis and gluconeogenesis.
UniProtKB/Swiss-Prot Function:
It is also responsible for the non-negligible production of methylglyoxal a reactive cytotoxic side-product that modifies and can alter proteins, DNA and lipids.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=D-glyceraldehyde 3-phosphate = dihydroxyacetone phosphate; Xref=Rhea:RHEA:18585, ChEBI:CHEBI:57642, ChEBI:CHEBI:59776; EC=5.3.1.1; Evidence={ECO:0000269|PubMed:18562316};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=dihydroxyacetone phosphate = methylglyoxal + phosphate; Xref=Rhea:RHEA:17937, ChEBI:CHEBI:17158, ChEBI:CHEBI:43474, ChEBI:CHEBI:57642; EC=4.2.3.3; Evidence={ECO:0000250|UniProtKB:P00939};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.74 mM for D-glyceraldehyde 3-phosphate (at pH 7.4 and 25 degrees Celsius) {ECO:0000269|PubMed:18562316}; Vmax=7.1 mmol/min/mg enzyme {ECO:0000269|PubMed:18562316};
GENATLAS Biochemistry:
triosephosphate isomerase 1,homodimer with two identical subunits,26.8kDa,catalyzing the aldose-ketose isomerization of dihydroxyacetone phosphate and glyceraldehyde 3-phosphate

Enzyme Numbers (IUBMB) for TPI1 Gene

Phenotypes From GWAS Catalog for TPI1 Gene

Gene Ontology (GO) - Molecular Function for TPI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004807 triose-phosphate isomerase activity IBA,TAS 2579079
GO:0005515 protein binding IPI 20849852
GO:0008929 methylglyoxal synthase activity ISS --
GO:0016829 lyase activity IEA --
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 Tpi1<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for TPI1 Gene

miRTarBase miRNAs that target TPI1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TPI1

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

Localization for TPI1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TPI1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TPI1 gene
Compartment Confidence
nucleus 5
extracellular 4
mitochondrion 4
cytosol 4
plasma membrane 2
cytoskeleton 2
peroxisome 2
endoplasmic reticulum 2
lysosome 2
golgi apparatus 2
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TPI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space HDA 16502470
GO:0005634 nucleus HDA 21630459
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with TPI1: view

Pathways & Interactions for TPI1 Gene

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

Pathways by source for TPI1 Gene

1 GeneGo (Thomson Reuters) pathway for TPI1 Gene
  • Glycolysis and gluconeogenesis (short map)

UniProtKB/Swiss-Prot P60174-TPIS_HUMAN

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

Gene Ontology (GO) - Biological Process for TPI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006094 gluconeogenesis TAS --
GO:0006096 glycolytic process IBA 21873635
GO:0007275 multicellular organism development IEA --
GO:0019242 methylglyoxal biosynthetic process ISS --
GO:0019563 glycerol catabolic process IBA 21873635
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved, Investigational Pharma Target 1594
zinc acetate Approved, Investigational Pharma Target 0
Zinc chloride Approved, Investigational Pharma Target, binder 0
Zinc sulfate, unspecified form Approved, Experimental Pharma Target, binder 0
Phosphoglycolic acid Experimental Pharma Target 0

(31) Additional Compounds for TPI1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TPI1: view

Transcripts for TPI1 Gene

mRNA/cDNA for TPI1 Gene

3 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TPI1

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

Expression for TPI1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TPI1 Gene

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



Protein tissue co-expression partners for TPI1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TPI1

SOURCE GeneReport for Unigene cluster for TPI1 Gene:

Hs.524219

Evidence on tissue expression from TISSUES for TPI1 Gene

  • Nervous system(5)
  • Liver(4.9)
  • Muscle(4.9)
  • Blood(4.9)
  • Lung(4.8)
  • Skin(4.8)
  • Kidney(4.6)
  • Intestine(4.6)
  • Eye(4.6)
  • Pancreas(4.6)
  • Heart(4.5)
  • Stomach(4)
  • Bone(3.5)
  • Spleen(2.9)
  • Lymph node(2.8)
  • Bone marrow(2.7)
  • Adrenal gland(2.6)
  • Thyroid gland(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TPI1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • head
  • mouth
Thorax:
  • diaphragm
  • heart
  • lung
Abdomen:
  • abdominal wall
  • biliary tract
  • gallbladder
  • intestine
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • pelvis
Limb:
  • lower limb
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with TPI1: view

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
Chimpanzee
(Pan troglodytes)
Mammalia TPI1 30 31
  • 99.46 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TPI1 30 31
  • 93.17 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TPI1 30 31
  • 92.5 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tpi1 30 17 31
  • 86.01 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia LOC100911515 30
  • 85.78 (n)
Oppossum
(Monodelphis domestica)
Mammalia TPI1 31
  • 85 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TPI1 31
  • 65 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TPI1 30 31
  • 79.57 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TPI1 31
  • 88 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tpi1 30
  • 77.24 (n)
Str.3235 30
African clawed frog
(Xenopus laevis)
Amphibia tpi-prov 30
Zebrafish
(Danio rerio)
Actinopterygii tpi1b 31
  • 81 (a)
OneToMany
tpi1a 30 31
  • 73.61 (n)
OneToMany
-- 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.557 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001630 30
  • 64.76 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Tpi 30 31 32
  • 63.94 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea tpi-1 30 31 32
  • 60.84 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AGL201C 30
  • 57.99 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TPI1 30 31 33
  • 55.28 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F18832g 30
  • 55.1 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons TPI 30
  • 60.7 (n)
Rice
(Oryza sativa)
Liliopsida Os01g0841600 30
  • 61.48 (n)
Os.12602 30
Barley
(Hordeum vulgare)
Liliopsida Hv.946 30
Wheat
(Triticum aestivum)
Liliopsida Ta.27753 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.9540 31
  • 68 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU07550 30
  • 60.38 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes tpi1 30
  • 56.93 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.4714 30
Species where no ortholog for TPI1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TPI1: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TPI1 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
717256 Benign: Triosephosphate isomerase deficiency; not provided 6,870,105(+) G/A SYNONYMOUS_VARIANT
719916 Conflicting Interpretations: Triosephosphate isomerase deficiency; not provided 6,869,299(+) C/T SYNONYMOUS_VARIANT
740764 Likely Benign: not provided 6,867,572(+) G/T SYNONYMOUS_VARIANT
742258 Likely Benign: not provided 6,867,578(+) C/T SYNONYMOUS_VARIANT
747578 Likely Benign: not provided 6,870,299(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for TPI1 Gene

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

Variant ID Type Subtype PubMed ID
esv3580405 CNV gain 25503493
nsv557261 CNV loss 21841781
nsv832324 CNV loss 17160897
nsv983267 CNV duplication 23825009

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)

Additional Variant Information for TPI1 Gene

Human Gene Mutation Database (HGMD)
TPI1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TPI1

SNP Genotyping and Copy Number Assay Products

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

Disorders for TPI1 Gene

MalaCards: The human disease database

(29) MalaCards diseases for TPI1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
triosephosphate isomerase deficiency
  • tpid
giardiasis
  • beaver feaver
congenital hemolytic anemia
  • congenital hemolytic anaemia
hemolytic anemia
  • anemia hemolytic
disorder of glycolysis
- 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.37}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for TPI1 Gene

hemolytic anemia

Additional Disease Information for TPI1

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

Publications for TPI1 Gene

  1. Structural basis of human triosephosphate isomerase deficiency: mutation E104D is related to alterations of a conserved water network at the dimer interface. (PMID: 18562316) Rodríguez-Almazán C … Torres-Larios A (The Journal of biological chemistry 2008) 3 4 23
  2. 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 genetics 2008) 3 23 41
  3. Evidence for founder effect of the Glu104Asp substitution and identification of new mutations in triosephosphate isomerase deficiency. (PMID: 9338582) Arya R … Layton DM (Human mutation 1997) 3 4 23
  4. Molecular analysis of a series of alleles in humans with reduced activity at the triosephosphate isomerase locus. (PMID: 8571957) Watanabe M … Mohrenweiser HW (American journal of human genetics 1996) 3 4 23
  5. 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 SC … Hol WG (Protein science : a publication of the Protein Society 1994) 3 4 23

Products for TPI1 Gene

Sources for TPI1 Gene