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    THTPA thiamine triphosphatase [ Homo sapiens (human) ]

    Gene ID: 79178, updated on 3-Nov-2024

    Summary

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    Official Symbol
    THTPAprovided by HGNC
    Official Full Name
    thiamine triphosphataseprovided by HGNC
    Primary source
    HGNC:HGNC:18987
    See related
    Ensembl:ENSG00000259431 MIM:611612; AllianceGenome:HGNC:18987
    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
    THTP; THTPASE
    Summary
    This gene encodes an enzyme which catalyzes the biosynthesis of thiamine disphophate (vitamin B1) by hydrolysis of thiamine triphosphate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]
    Expression
    Ubiquitous expression in testis (RPKM 8.5), prostate (RPKM 7.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See THTPA in Genome Data Viewer
    Location:
    14q11.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (23511760..23560271)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (17712320..17760830)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (23980969..24029480)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808 Neighboring gene microRNA 208b Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23904729-23905566 Neighboring gene VISTA enhancer hs1670 Neighboring gene myosin heavy chain 7 Neighboring gene VISTA enhancer hs2330 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5609 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:23938675-23939615 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:23951280-23952037 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:23952038-23952794 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:23963206-23963906 Neighboring gene neuroguidin Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23993935-23994786 Neighboring gene uncharacterized LOC124903289 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:24001492-24001992 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:24006625-24007504 Neighboring gene zinc finger homeobox 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:24014522-24015146 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:24017019-24017642 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:24019766-24020428 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8172 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:24024860-24025794 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8174 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:24031286-24031786 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:24031787-24032287 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8175 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8176 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5611 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5612 Neighboring gene AP1G2 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:24046010-24046770 Neighboring gene adaptor related protein complex 1 subunit gamma 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:24054355-24054854 Neighboring gene junctophilin 4 Neighboring gene Sharpr-MPRA regulatory region 10629 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8178 Neighboring gene dehydrogenase/reductase 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. [The rate of molecular evolution of mammalian soluble thiamine triphosphatase]. Makarchikov AF. Ukr Biokhim Zh (1999), 2009 Nov-Dec. PMID 20387656
    2. Human recombinant thiamine triphosphatase: purification, secondary structure and catalytic properties. Lakaye B, et al. Int J Biochem Cell Biol, 2004 Jul. PMID 15109578
    3. Thiamine triphosphate and thiamine triphosphatase activities: from bacteria to mammals. Makarchikov AF, et al. Cell Mol Life Sci, 2003 Jul. PMID 12943234, Free PMC Article
    4. Molecular characterization of a specific thiamine triphosphatase widely expressed in mammalian tissues. Lakaye B, et al. J Biol Chem, 2002 Apr 19. PMID 11827967
    5. Thiamin and the brain. Haas RH. Annu Rev Nutr, 1988. PMID 3060175

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The untagged recombinant human ThTPase (hThTPase) was expressed in E. coli and purified to homogeneity.
      Title: Human recombinant thiamine triphosphatase: purification, secondary structure and catalytic properties.
    Submit: New GeneRIF Correction

    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

    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

    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

    • MGC2652, FLJ33428, FLJ36892

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables hydrolase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables magnesium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables magnesium ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables thiamine triphosphate phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables thiamine triphosphate phosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in dephosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in generation of precursor metabolites and energy NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in thiamine diphosphate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in thiamine diphosphate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in thiamine diphosphate metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in thiamine metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    thiamine-triphosphatase
    NP_001119811.1
    NP_001242991.1
    NP_001243250.1
    NP_001243251.1
    NP_001243252.1
    NP_077304.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001126339.3 → NP_001119811.1  thiamine-triphosphatase isoform 1

      See identical proteins and their annotated locations for NP_001119811.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks a segment of the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AK098604, BI522644, BP358780, BQ182954, BX161435, HY035323
      Consensus CDS
      CCDS32053.1
      UniProtKB/Swiss-Prot
      D3DS50, G3V4J3, Q9BU02
      Related
      ENSP00000384580.3, ENST00000404535.3
      Conserved Domains (1) summary
      cd07758
      Location:6 → 198
      ThTPase; Thiamine Triphosphatase

    2. NM_001256062.2 → NP_001242991.1  thiamine-triphosphatase isoform 2

      See identical proteins and their annotated locations for NP_001242991.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (2) has a distinct and shorter C-terminus, compared to isoform 1. Both variants 4 and 5 encode isoform 2.
      Source sequence(s)
      AL135999, BM673249, BX378775
      Consensus CDS
      CCDS58307.1
      UniProtKB/Swiss-Prot
      Q9BU02
      Related
      ENSP00000450459.1, ENST00000554789.1
      Conserved Domains (1) summary
      cl11964
      Location:6 → 95
      CYTH-like_Pase; CYTH-like (also known as triphosphate tunnel metalloenzyme (TTM)-like) Phosphatases

    3. NM_001256321.2 → NP_001243250.1  thiamine-triphosphatase isoform 2

      See identical proteins and their annotated locations for NP_001243250.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks a segment of the 5' UTR and uses an alternate splice site that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (2) has a distinct and shorter C-terminus, compared to isoform 1. Both variants 4 and 5 encode isoform 2.
      Source sequence(s)
      BC002984, BM673249, DB122722, HY035323
      Consensus CDS
      CCDS58307.1
      UniProtKB/Swiss-Prot
      Q9BU02
      Related
      ENSP00000451835.1, ENST00000556015.5
      Conserved Domains (1) summary
      cl11964
      Location:6 → 95
      CYTH-like_Pase; CYTH-like (also known as triphosphate tunnel metalloenzyme (TTM)-like) Phosphatases

    4. NM_001256322.2 → NP_001243251.1  thiamine-triphosphatase isoform 3

      See identical proteins and their annotated locations for NP_001243251.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in an isoform (3) that is shorter than isoform 1. Both variants 6 and 7 encode isoform 3.
      Source sequence(s)
      BC002984, BI836092, BM673249, BX161435, HY035323
      Consensus CDS
      CCDS58306.1
      UniProtKB/TrEMBL
      G3V5Q5
      Conserved Domains (1) summary
      cl11964
      Location:6 → 93
      CYTH-like_Pase; CYTH-like (also known as triphosphate tunnel metalloenzyme (TTM)-like) Phosphatases

    5. NM_001256323.2 → NP_001243252.1  thiamine-triphosphatase isoform 3

      See identical proteins and their annotated locations for NP_001243252.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks a segment of the 5' UTR and uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in an isoform (3) that is shorter than isoform 1. Both variants 6 and 7 encode isoform 3.
      Source sequence(s)
      BC002984, BM673249, DA952722, HY035323
      Consensus CDS
      CCDS58306.1
      UniProtKB/TrEMBL
      G3V5Q5
      Related
      ENSP00000452465.1, ENST00000554970.1
      Conserved Domains (1) summary
      cl11964
      Location:6 → 93
      CYTH-like_Pase; CYTH-like (also known as triphosphate tunnel metalloenzyme (TTM)-like) Phosphatases

    6. NM_024328.6 → NP_077304.1  thiamine-triphosphatase isoform 1

      See identical proteins and their annotated locations for NP_077304.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Both variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AL135999, BC002984, BQ182954, BX161435
      Consensus CDS
      CCDS32053.1
      UniProtKB/Swiss-Prot
      D3DS50, G3V4J3, Q9BU02
      Related
      ENSP00000288014.6, ENST00000288014.7
      Conserved Domains (1) summary
      cd07758
      Location:6 → 198
      ThTPase; Thiamine Triphosphatase

    RNA

    1. NR_023314.4 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate splice site in the 5' terminal exon, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon found in variant 1, and it has no likely in-frame ORFs.
      Source sequence(s)
      BC002984, BM673249, CB054399, HY035323

    2. NR_046051.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) contains alternate 5' exon structure, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      BC002984, BI488427, BM673249

    3. NR_046052.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) contains alternate 5' exon structure, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      AK094211, BC002984, BM673249, DA218228

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      23511760..23560271
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      17712320..17760830
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BU02.3 GenPept UniProtKB/Swiss-Prot:Q9BU02

    Gene LinkOut

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

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