TPI1 triosephosphate isomerase 1 [Homo sapiens (human)] - Gene

Summary

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

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_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Generation and analysis of TPI deficiency zebrafish model.
Title: Generation and analysis of TPI deficiency zebrafish model.
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.
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.
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.
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.
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.
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.
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.
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.
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 Variation Viewer (GRCh37.p13)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH78311 (e-PCR)
- UniSTS:13570

STS-M10036 (e-PCR)
- UniSTS:31504

RH67005 (e-PCR)
- UniSTS:85018

GDB:214819 (e-PCR)
- UniSTS:156187

TPI1 (e-PCR)
- UniSTS:266275

SHGC-32489 (e-PCR)
- UniSTS:41029

TPI1 (e-PCR)
- UniSTS:480096

D1S3365 (e-PCR)
- UniSTS:66707

GDB:384743 (e-PCR)
- UniSTS:157093

G32324 (e-PCR)
- UniSTS:116917

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 more info	PubMed
located_in extracellular space	HDA more info	PubMed
located_in nucleus	HDA more info	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

EC 4.2.3.3

EC 5.3.1.1

NP_001152759.1

EC 4.2.3.3

EC 5.3.1.1

NP_001244955.1

EC 4.2.3.3

EC 5.3.1.1

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

NG_011948.1 RefSeqGene

Range

5112..8529

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1126

mRNA and Protein(s)

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
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
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