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THTPA thiamine triphosphatase [ Homo sapiens (human) ]

Gene ID: 79178, updated on 7-Jun-2020

Summary

Official Symbol
THTPAprovided by HGNC
Official Full Name
thiamine triphosphataseprovided by HGNC
Primary source
HGNC:HGNC:18987
See related
Ensembl:ENSG00000259431 MIM:611612
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

Genomic context

See THTPA in Genome Data Viewer
Location:
14q11.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (23511760..23560271)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (23980969..24028790)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs2330 Neighboring gene neuroguidin Neighboring gene zinc finger homeobox 2 Neighboring gene uncharacterized LOC102724814 Neighboring gene adaptor related protein complex 1 subunit gamma 2 Neighboring gene junctophilin 4 Neighboring gene Sharpr-MPRA regulatory region 10629

Genomic regions, transcripts, and products

Expression

  • 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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC2652, FLJ33428, FLJ36892

Gene Ontology Provided by GOA

Function Evidence Code Pubs
hydrolase activity TAS
Traceable Author Statement
more info
PubMed 
magnesium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
magnesium ion binding ISS
Inferred from Sequence or Structural Similarity
more info
 
thiamin-triphosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
thiamin-triphosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
dephosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dephosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
generation of precursor metabolites and energy NAS
Non-traceable Author Statement
more info
PubMed 
thiamine diphosphate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
thiamine diphosphate metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
thiamine metabolic process TAS
Traceable Author Statement
more info
PubMed 
thiamine-containing compound metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 

General protein information

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)

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_001126339.3NP_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
    Q9BU02
    Related
    ENSP00000384580.3, ENST00000404535.3
    Conserved Domains (1) summary
    cd07758
    Location:6198
    ThTPase; Thiamine Triphosphatase
  2. NM_001256062.2NP_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:695
    CYTH-like_Pase; CYTH-like (also known as triphosphate tunnel metalloenzyme (TTM)-like) Phosphatases
  3. NM_001256321.2NP_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:695
    CYTH-like_Pase; CYTH-like (also known as triphosphate tunnel metalloenzyme (TTM)-like) Phosphatases
  4. NM_001256322.2NP_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/Swiss-Prot
    Q9BU02
    UniProtKB/TrEMBL
    G3V5Q5
    Conserved Domains (1) summary
    cl11964
    Location:693
    CYTH-like_Pase; CYTH-like (also known as triphosphate tunnel metalloenzyme (TTM)-like) Phosphatases
  5. NM_001256323.2NP_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/Swiss-Prot
    Q9BU02
    UniProtKB/TrEMBL
    G3V5Q5
    Related
    ENSP00000452465.1, ENST00000554970.1
    Conserved Domains (1) summary
    cl11964
    Location:693
    CYTH-like_Pase; CYTH-like (also known as triphosphate tunnel metalloenzyme (TTM)-like) Phosphatases
  6. NM_024328.6NP_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
    Q9BU02
    Related
    ENSP00000288014.6, ENST00000288014.7
    Conserved Domains (1) summary
    cd07758
    Location:6198
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

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