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    TPI1 triosephosphate isomerase 1 [ Homo sapiens (human) ]

    Gene ID: 7167, updated on 28-Oct-2024

    Summary

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    Official Symbol
    TPI1provided by HGNC
    Official Full Name
    triosephosphate isomerase 1provided by HGNC
    Primary source
    HGNC:HGNC:12009
    See related
    Ensembl:ENSG00000111669 MIM:190450; AllianceGenome:HGNC:12009
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TIM; TPI; TPID; HEL-S-49
    Summary
    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]
    Expression
    Ubiquitous expression in heart (RPKM 181.7), brain (RPKM 179.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TPI1 in Genome Data Viewer
    Location:
    12p13.31
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (6867420..6870948)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (6876717..6880246)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (6976584..6980112)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene G protein subunit beta 3 Neighboring gene cell division cycle associated 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4184 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5885 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:6960952-6961912 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4186 Neighboring gene ubiquitin specific peptidase 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:6974948-6975610 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:6975611-6976272 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4187 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4188 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:6979885-6980470 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4189 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5888 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4190 Neighboring gene splA/ryanodine receptor domain and SOCS box containing 2 Neighboring gene uncharacterized LOC105369632 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:6992574-6993122 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:6993123-6993671 Neighboring gene ribosomal protein L13 pseudogene 5 Neighboring gene DSTN pseudogene 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Energy metabolism and ageing regulation: metabolically driven deamidation of triosephosphate isomerase may contribute to proteostatic dysfunction. Hipkiss AR. Ageing Res Rev, 2011 Sep. PMID 21651995
    2. Proteomic surveillance of autoimmunity in osteoarthritis: identification of triosephosphate isomerase as an autoantigen in patients with osteoarthritis. Xiang Y, et al. Arthritis Rheum, 2004 May. PMID 15146421
    3. Antibodies to triosephosphate isomerase in patients with neuropsychiatric lupus. Watanabe H, et al. Biochem Biophys Res Commun, 2004 Sep 3. PMID 15358119
    4. Anti-triosephosphate isomerase antibodies in cerebrospinal fluid are associated with neuropsychiatric lupus. Sasajima T, et al. J Neuroimmunol, 2006 Dec. PMID 17064784
    5. Triose phosphate isomerase deficiency is caused by altered dimerization--not catalytic inactivity--of the mutant enzymes. Ralser M, et al. PLoS One, 2006 Dec 20. PMID 17183658, Free PMC Article

    See all (222) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Generation and analysis of TPI deficiency zebrafish model.
      Title: Generation and analysis of TPI deficiency zebrafish model.
    2. TPI1 promotes MAPK/ERK-induced EMT, cell migration and invasion in lung adenocarcinoma.
      Title: TPI1 promotes MAPK/ERK-induced EMT, cell migration and invasion in lung adenocarcinoma.
    3. Knockdown of TPI in human dermal microvascular endothelial cells and its impact on angiogenesis in vitro.
      Title: Knockdown of TPI in human dermal microvascular endothelial cells and its impact on angiogenesis in vitro.
    4. Triosephosphate isomerase 1 may be a risk predictor in laryngeal squamous cell carcinoma: a multi-centered study integrating bulk RNA, single-cell RNA, and protein immunohistochemistry.
      Title: Triosephosphate isomerase 1 may be a risk predictor in laryngeal squamous cell carcinoma: a multi-centered study integrating bulk RNA, single-cell RNA, and protein immunohistochemistry.
    5. LKB1-Dependent Regulation of TPI1 Creates a Divergent Metabolic Liability between Human and Mouse Lung Adenocarcinoma.
      Title: LKB1-Dependent Regulation of TPI1 Creates a Divergent Metabolic Liability between Human and Mouse Lung Adenocarcinoma.
    6. TPI1 activates the PI3K/AKT/mTOR signaling pathway to induce breast cancer progression by stabilizing CDCA5.
      Title: TPI1 activates the PI3K/AKT/mTOR signaling pathway to induce breast cancer progression by stabilizing CDCA5.
    7. Expression of vimentin, TPI and MAT2A in human dermal microvascular endothelial cells during angiogenesis in vitro.
      Title: Expression of vimentin, TPI and MAT2A in human dermal microvascular endothelial cells during angiogenesis in vitro.
    8. Metabolic Enzyme Triosephosphate Isomerase 1 and Nicotinamide Phosphoribosyltransferase, Two Independent Inflammatory Indicators in Rheumatoid Arthritis: Evidences From Collagen-Induced Arthritis and Clinical Samples.
      Title: Metabolic Enzyme Triosephosphate Isomerase 1 and Nicotinamide Phosphoribosyltransferase, Two Independent Inflammatory Indicators in Rheumatoid Arthritis: Evidences From Collagen-Induced Arthritis and Clinical Samples.
    9. TPI1-reduced extracellular vesicles mediated by Rab20 downregulation promotes aerobic glycolysis to drive hepatocarcinogenesis.
      Title: TPI1-reduced extracellular vesicles mediated by Rab20 downregulation promotes aerobic glycolysis to drive hepatocarcinogenesis.
    10. Proteomics analysis identified TPI1 as a novel biomarker for predicting recurrence of intrahepatic cholangiocarcinoma.
      Title: Proteomics analysis identified TPI1 as a novel biomarker for predicting recurrence of intrahepatic cholangiocarcinoma.
    Submit: New GeneRIF Correction See all GeneRIFs (50)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Triosephosphate isomerase deficiency
    MedGen: C1860808 OMIM: 615512 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of triosephosphate isomerase 1 (TPI1) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC88108

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables methylglyoxal synthase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables triose-phosphate isomerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables triose-phosphate isomerase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables triose-phosphate isomerase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables triose-phosphate isomerase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in canonical glycolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in gluconeogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in gluconeogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in glyceraldehyde-3-phosphate biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in glyceraldehyde-3-phosphate biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in glycerol catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in glycolytic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in methylglyoxal biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in extracellular space HDA PubMed 
    located_in nucleus HDA PubMed 

    General protein information

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    Preferred Names
    triosephosphate isomerase
    Names
    epididymis secretory protein Li 49
    methylglyoxal synthase
    triose-phosphate isomerase
    NP_000356.1
    NP_001152759.1
    NP_001244955.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011948.1 RefSeqGene

      Range
      5112..8529
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1126

    mRNA and Protein(s)

    1. NM_000365.6 → NP_000356.1  triosephosphate isomerase isoform 1

      See identical proteins and their annotated locations for NP_000356.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the predominant isoform (1).
      Source sequence(s)
      AK222638, BC009329, DB444195, U47924
      Consensus CDS
      CCDS8566.1
      UniProtKB/Swiss-Prot
      B7Z5D8, D3DUS9, P00938, P60174, Q6FHP9, Q6IS07, Q8WWD0, Q96AG5
      UniProtKB/TrEMBL
      Q53HE2, V9HWK1
      Related
      ENSP00000379933.4, ENST00000396705.10
      Conserved Domains (1) summary
      PTZ00333
      Location:2 → 247
      PTZ00333; triosephosphate isomerase; Provisional

    2. NM_001159287.1 → NP_001152759.1  triosephosphate isomerase isoform 2

      See identical proteins and their annotated locations for NP_001152759.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding region, compared to variant 1. The resulting isoform has a longer N-terminus compared to isoform 1.
      Source sequence(s)
      DB444195, M10036, U47924
      Consensus CDS
      CCDS53740.1
      UniProtKB/TrEMBL
      Q53HE2
      Related
      ENSP00000484435.1, ENST00000613953.4
      Conserved Domains (1) summary
      PTZ00333
      Location:39 → 284
      PTZ00333; triosephosphate isomerase; Provisional

    3. NM_001258026.2 → NP_001244955.1  triosephosphate isomerase isoform 3

      See identical proteins and their annotated locations for NP_001244955.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AK298809, AW250466, U47924
      Consensus CDS
      CCDS58206.1
      UniProtKB/Swiss-Prot
      P60174
      Related
      ENSP00000443599.1, ENST00000535434.5
      Conserved Domains (1) summary
      cl21457
      Location:1 → 165
      TIM; TIM-like beta/alpha barrel domains

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      6867420..6870948
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      6876717..6880246
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P60174.4 GenPept UniProtKB/Swiss-Prot:P60174

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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