TPI1 Gene
protein-coding GIFtS: 68
GCID: GC12P007048
|
|
triosephosphate isomerase 1
| |
Aliases
for TPI1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA
Quality score for the ORGUL clustered with this gene is 3
| Aliases |
|---|
| Triosephosphate Isomerase 11 2 | | Triose-Phosphate Isomerase2 3 | | TIM2 3 | | TPI2 3 | | EC 5.3.1.13 8 | | Triosephosphate Isomerase2 |
| External Ids: | HGNC: 120091 | Entrez Gene: 71672 | Ensembl: ENSG000001116697 | OMIM: 1904505 | UniProtKB: P601743 |
|---|
| | ORGUL members: | |
|---|
| NONCODE:n407915 | |
Export aliases for TPI1 gene to outside databasesPrevious GC identifers: GC12M006995 GC12M007080 GC12P006855 GC12P006846 GC12P006979 GC12P006986 GC12P006992 GC12P006999 GC12P007007 GC12P007025
Summaries
for TPI1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for TPI1:
This gene encodes an enzyme, consisting of two identical proteins, which catalyzes the isomerization of glyceraldehydes3-phosphate (G3P) and dihydroxy-acetone phosphate (DHAP) in glycolysis and gluconeogenesis. Mutations in this gene areassociated 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)
Gene Wiki entry for TPI1
|
Genomic Views
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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000012.11 NC_018923.1 NT_009759.16
Regulatory elements:
 SABiosciences 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
Search SABiosciences Chromatin IP Primers for TPI1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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: 12p13.31TPI1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 12 GeneLoc Exon Structure GeneLoc location for GC12P007048: 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 |
|
Proteins
for TPI1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
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-terminallyextended; 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-terminallyextended; 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=TranslationN-terminally extended; Sequence=CAA49379.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
6/7 PDB 3D structures from  and Proteopedia  for TPI1 (see all 7):1HTI (3D)
1WYI (3D)
2IAM (3D)
2IAN (3D)
2JK2 (3D)
2VOM (3D)
Secondary accessions: B7Z5D8 D3DUS9 P00938 Q6FHP9 Q6IS07 Q8WWD0 Q96AG5Alternative 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
Post-translational modifications:
The initiator methionine for isoform 2 is removed1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P60174
4/22 DME Specific Peptides for TPI1 (P60174) (see all 22)
TPI1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (3 alternative transcripts):
NP_000356.1 NP_001152759.1 NP_001244955.1
ENSEMBL proteins: ENSP00000229270 ENSP00000379933 ENSP00000443599 Reactome Protein details: P60174
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
TPI1 for ontologies About GeneDecksing
TPI1 Antibody Products:
Assay Products for TPI1: |
Protein
Domains /
Families
for TPI1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
TPI1 for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P60174ProtoNet protein and cluster: P60174 UniProtKB/Swiss-Prot: TPIS_HUMAN, P60174Similarity: Belongs to the triosephosphate isomerase family |
Function
for TPI1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: TPIS_HUMAN, P60174Catalytic 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 ofdihydroxyacetone phosphate and glyceraldehyde 3-phosphate
Enzyme Number (IUBMB): EC 5.3.1.11 2
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TPI1 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TPI1 (see all 3)
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) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TPI1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TPI1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TPI1 |
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table
TPI1 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for TPI1:
Animal Models:
5 MGI mutant phenotypes (inferred from 7 alleles ) (MGI details for Tpi1):
TPI1 for phenotypes About GeneDecksing
|
Pathways & Interactions
for TPI1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Glycolysis and gluconeogenesis (short map) | | | 2 | Glucose metabolism | | | 3 | Metabolism | | | 4 | Fatty Acid Beta Oxidation | | | 5 | Inositol phosphate metabolism | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 EMD Millipore Pathway for TPI1
1  GeneGo (Thomson Reuters) Pathway for TPI1
2  BioSystems Pathways for TPI1
5 
Reactome Pathways for TPI1
4 
Kegg Pathways (Kegg details for TPI1):
UniProtKB/Swiss-Prot: TPIS_HUMAN, P60174Pathway: Carbohydrate biosynthesis; gluconeogenesisPathway: Carbohydrate degradation; glycolysis; D-glyceraldehyde 3-phosphate from glycerone phosphate: step 1/1
TPI1 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TPI1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/90 Interacting proteins for TPI1 (P601742, 3 ENSP000003799334) via UniProtKB, MINT, STRING, and/or I2D (see all 90)
About this table
Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table
TPI1 for ontologies About GeneDecksing
|
Drugs & Compounds
for TPI1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
TPI1 for compounds About GeneDecksing
 Browse Tocris compounds for TPI1
3 HMDB Compounds for TPI1 About this table
10/12 DrugBank Compounds for TPI1 (see all 12) About this table
10/53 Novoseek 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) |
Search CenterWatch for drugs/clinical trials and news about TPI1 / TPIS
|
Transcripts
for TPI1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
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: BM9130999 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000229270(uc001qrk.3) ENST00000488464 ENST00000493987 ENST00000462761
ENST00000495834 ENST00000482209 ENST00000474253 ENST00000396705 ENST00000535434(uc010sfo.2)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TPI1 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TPI1 (see all 3)
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 |
Additional cDNA 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 24/85 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 24/36 AceView cDNA sequences (see all 36): BC017165 BC009329 CR595558 CR622790 CR625901 BC007812 CR595027 CR612200 CR626424 CR620677 CR595384 CR604097 CR594819 CR610831 BC007086 CR604095 CR620313 AK129488 CR611677 CR618326 BC011611 CR541702 CR618352 CR611208
GeneLoc Exon Structure
5/6 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
|
Expression
for TPI1 gene
(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™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| TPI1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGAGGGAATA
About this image
See TPI1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TPI1
SOURCE GeneReport for Unigene cluster: Hs.524219
SABiosciences Expression via Pathway-Focused PCR Arrays including TPI1:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TPI1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TPI1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TPI1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TPI1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TPI1 |
Orthologs
for TPI1 gene
(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)
About This Section
|
This gene was present in the last universal common ancestor (LUCA).
Orthologs for TPI1 gene from 10/38 species (see all 38) 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 |
79.62(n)
90.28(a) |
|
396435 NM_205451.1 NP_990782.1 |
lizard
(Anolis carolinensis) |
Reptilia |
TPI16 |
-- |
88(a) |
1 ↔ 1 |
GL343453.1(452537-466160) |
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
64.91(n)1
64.63(a)1 |
|
3 99D83
435821 NM_176587.11 NP_788764.11 |
worm
(Caenorhabditis elegans) |
Secernentea |
tpi-11 , 3 |
Triosephosphate isomerase3
Protein TPI-11 |
62(a)3
61.09(n)1
62.45(a)1 |
|
II(12037071-12039229)3
1748441 NM_064162.31 NP_496563.11 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
TPI1 |
triosephosphate isomerase |
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 |
E. coli
(Escherichia coli) |
Gamma proteobacteria |
tpiA6 |
triosephosphate isomerase |
43(a) |
1 ↔ 1 |
Chromosome(4108763-4109530) |
ENSEMBL Gene Tree for TPI1 (if available)
TreeFam Gene Tree for TPI1 (if available) |
Paralogs
for TPI1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for TPI1 gene
TPI1 for paralogs About GeneDecksing
4 Pseudogenes.org Pseudogenes for TPI1
PGOHUM00000244760 PGOHUM00000257074 PGOHUM00000243749 PGOHUM00000233566
|
Genomic Variants
for TPI1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 12 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for TPI1 (6976283 - 6980112 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for TPI1: --
Human Gene Mutation Database (HGMD): TPI1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TPI1 |
|
Disorders
/ Diseases
for TPI1 gene
(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.)
About This Section
|
TPI1 for disorders About GeneDecksing
OMIM gene information: 190450
OMIM disorders: --
UniProtKB/Swiss-Prot: TPIS_HUMAN, P60174
Defects in TPI1 are the cause of triosephosphate isomerase deficiency (TPI deficiency) [MIM:190450]. TPIdeficiency is an autosomal recessive disorder. It is the most severe clinical disorder of glycolysis. It is associatedwith neonatal jaundice, chronic hemolytic anemia, progressive neuromuscular dysfunction, cardiomyopathy and increasedsusceptibility to infection
20/65  diseases for TPI1 (see all 65): About MalaCardstriose phosphate-isomerase deficiency hemolytic anemia due to triosephosphate isomerase deficiency molybdenum cofactor deficiency infectious mononucleosis
leber congenital amaurosis hemolytic anemia giardiasis congenital hemolytic anemia
visceral leishmaniasis neonatal jaundice squamous cell carcinoma paracoccidioidomycosis
lupus erythematosus axonal neuropathy metabolic disorders hepatitis a
esophageal squamous cell carcinoma systemic lupus erythematosus lung squamous cell carcinoma jaundice
1 disease from the University of Copenhagen DISEASES database for TPI1:Giardiasis 10/37 Novoseek 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
Human Genome Epidemiology (HuGE) Navigator: TPI1 (2 documents)
Export disorders for TPI1 gene to outside databases
|
Publications
for TPI1 gene (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)
About This Section
|
PubMed articles for TPI1 gene, integrated from 9 sources (see all 342):
(articles sorted by number of sources associating them with TPI1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Human triosephosphate isomerase deficiency resulting from mutation of Phe-240. (PubMed id 8503454)1, 2, 9 Chang M.-L.... Maquat L.E. (1993)
- 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. (1997)
- 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. (1994)
- Structural basis of 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. (2008)
- 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. (1996)
- 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. (1992)
- Phosphoproteomic analysis of the human pituitary. (PubMed id 16807684)1, 2 Beranova-Giorgianni S.... Giorgianni F. (2006)
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- A two-dimensional gel database of human colon carcinoma proteins. (PubMed id 9150948)1, 2 Ji H.... Simpson R.J. (1997)
|
External Searches for TPI1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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|
|
Genome Databases showing TPI1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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|
|
Other Databases showing TPI1 gene
(According to HUGE)
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| -- |
Specialized Databases showing TPI1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for TPI1 | Pharmacogenomics, SNPs, Pathways | | Wikipedia | http://en.wikipedia.org/wiki/Triosephosphate_isomerase |
|
| | |
About This Section
| 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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Products
for TPI1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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|
 | |
 | |
 |
| | |  | OriGene Antibodies for TPI1 | | OriGene shRNA RFP for TPI1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TPI1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TPI1 | | | OriGene Protein Over-expression Lysate for TPI1 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for TPI1 | | OriGene 3'-UTR Clone for TPI1 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TPI1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TPI1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for TPI1 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| |  |  |  |  | | | | | | Recombinant Protein for TPI1 |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TPI1 |
|  |  |  | | | | ThermoFisher Antibody for TPI1 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TPI1 |
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