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TPI1 triosephosphate isomerase 1 [ Homo sapiens (human) ]

Gene ID: 7167, updated on 4-Jan-2025

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
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Genomic context

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

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Triosephosphate isomerase deficiency
MedGen: C1860808 OMIM: 615512 GeneReviews: Not available
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HIV-1 interactions

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

Interactions

General gene information

Clone Names

  • MGC88108

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in canonical glycolysis  
involved_in gluconeogenesis  
involved_in gluconeogenesis  
involved_in glyceraldehyde-3-phosphate biosynthetic process  
involved_in glyceraldehyde-3-phosphate biosynthetic process PubMed 
involved_in glycerol catabolic process  
involved_in glycolytic process  
involved_in methylglyoxal biosynthetic process  

General protein information

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_000365.6NP_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:2247
    PTZ00333; triosephosphate isomerase; Provisional
  2. NM_001159287.1NP_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:39284
    PTZ00333; triosephosphate isomerase; Provisional
  3. NM_001258026.2NP_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:1165
    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)
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