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Protein

Thiamin pyrophosphokinase 1

Gene

TPK1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Catalyzes the phosphorylation of thiamine to thiamine pyrophosphate. Can also catalyze the phosphorylation of pyrithiamine to pyrithiamine pyrophosphate.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: thiamine diphosphate biosynthesis

This protein is involved in step 1 of the subpathway that synthesizes thiamine diphosphate from thiamine.
Proteins known to be involved in this subpathway in this organism are:
  1. Thiamin pyrophosphokinase 1 (TPK1), Thiamine pyrophosphokinase (TPK1)
This subpathway is part of the pathway thiamine diphosphate biosynthesis, which is itself part of Cofactor biosynthesis.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes thiamine diphosphate from thiamine, the pathway thiamine diphosphate biosynthesis and in Cofactor biosynthesis.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • kinase activity Source: UniProtKB-KW
  • thiamine binding Source: InterPro
  • thiamine diphosphokinase activity Source: GO_Central

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionKinase, Transferase
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
2.7.6.2 2681

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-196819 Vitamin B1 (thiamin) metabolism

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00060;UER00597

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Thiamin pyrophosphokinase 1 (EC:2.7.6.2)
Short name:
hTPK1
Alternative name(s):
Placental protein 20
Short name:
PP20
Thiamine pyrophosphokinase 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:TPK1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 7

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000196511.13

Human Gene Nomenclature Database

More...
HGNCi
HGNC:17358 TPK1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606370 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9H3S4

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type (THMD5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive metabolic disorder due to an inborn error of thiamine metabolism. The phenotype is highly variable, but in general, affected individuals have onset in early childhood of acute encephalopathic episodes associated with increased serum and CSF lactate. These episodes result in progressive neurologic dysfunction manifest as gait disturbances, ataxia, dystonia, and spasticity, which in some cases may result in loss of ability to walk. Cognitive function is usually preserved, although mildly delayed development has been reported. These episodes are usually associated with infection and metabolic decompensation. Some patients may have recovery of some neurologic deficits.
See also OMIM:614458
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_06739140L → P in THMD5. 1 PublicationCorresponds to variant dbSNP:rs387906936EnsemblClinVar.1
Natural variantiVAR_06739250N → H in THMD5. 1 PublicationCorresponds to variant dbSNP:rs387906935EnsemblClinVar.1
Natural variantiVAR_067393219N → S in THMD5. 1 PublicationCorresponds to variant dbSNP:rs371271054EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
27010

MalaCards human disease database

More...
MalaCardsi
TPK1
MIMi614458 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000196511

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
293955 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA38235

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL6155

Drug and drug target database

More...
DrugBanki
DB04768 Pyrithiamine Pyrophosphate
DB00152 Thiamine

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TPK1

Domain mapping of disease mutations (DMDM)

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DMDMi
44888537

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000726471 – 243Thiamin pyrophosphokinase 1Add BLAST243

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9H3S4

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9H3S4

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9H3S4

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q9H3S4

PeptideAtlas

More...
PeptideAtlasi
Q9H3S4

PRoteomics IDEntifications database

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PRIDEi
Q9H3S4

ProteomicsDB human proteome resource

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ProteomicsDBi
80748

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9H3S4

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q9H3S4

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Detected in heart, kidney, testis, small intestine and peripheral blood leukocytes, and at very low levels in a variety of tissues.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000196511 Expressed in 183 organ(s), highest expression level in duodenum

CleanEx database of gene expression profiles

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CleanExi
HS_TPK1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9H3S4 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9H3S4 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA021545
HPA021849

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer.

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
117952, 1 interactor

Protein interaction database and analysis system

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IntActi
Q9H3S4, 2 interactors

Molecular INTeraction database

More...
MINTi
Q9H3S4

STRING: functional protein association networks

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STRINGi
9606.ENSP00000353165

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1243
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1OLYmodel-A/B1-243[»]
3S4YX-ray1.80A/B15-243[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q9H3S4

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q9H3S4

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the thiamine pyrophosphokinase family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3153 Eukaryota
COG1564 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000016016

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000180834

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG003568

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9H3S4

KEGG Orthology (KO)

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KOi
K00949

Identification of Orthologs from Complete Genome Data

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OMAi
QMEFGGM

Database of Orthologous Groups

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OrthoDBi
1428589at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9H3S4

TreeFam database of animal gene trees

More...
TreeFami
TF313224

Family and domain databases

Conserved Domains Database

More...
CDDi
cd07995 TPK, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.40.50.10240, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR006282 Thi_PPkinase
IPR016966 Thiamin_pyrophosphokinase_euk
IPR007373 Thiamin_PyroPKinase_B1-bd
IPR036371 TPK_B1-bd_sf
IPR007371 TPK_catalytic
IPR036759 TPK_catalytic_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF04265 TPK_B1_binding, 1 hit
PF04263 TPK_catalytic, 1 hit

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF031057 Thiamin_pyrophosphokinase, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00983 TPK_B1_binding, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF63862 SSF63862, 1 hit
SSF63999 SSF63999, 1 hit

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR01378 thi_PPkinase, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9H3S4-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MEHAFTPLEP LLSTGNLKYC LVILNQPLDN YFRHLWNKAL LRACADGGAN
60 70 80 90 100
RLYDITEGER ESFLPEFING DFDSIRPEVR EYYATKGCEL ISTPDQDHTD
110 120 130 140 150
FTKCLKMLQK KIEEKDLKVD VIVTLGGLAG RFDQIMASVN TLFQATHITP
160 170 180 190 200
FPIIIIQEES LIYLLQPGKH RLHVDTGMEG DWCGLIPVGQ PCMQVTTTGL
210 220 230 240
KWNLTNDVLA FGTLVSTSNT YDGSGVVTVE TDHPLLWTMA IKS
Length:243
Mass (Da):27,265
Last modified:March 1, 2001 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iF7E96F8127CB4FA5
GO
Isoform 2 (identifier: Q9H3S4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-118: MEHAFTPLEP...QKKIEEKDLK → M
     205-243: TNDVLAFGTL...PLLWTMAIKS → RTCDYTRTTW...HICKVPLAIK

Note: No experimental confirmation available.
Show »
Length:124
Mass (Da):13,962
Checksum:i846C51E4808F336E
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q6ZQX6Q6ZQX6_HUMAN
Thiamin pyrophosphokinase 1
TPK1
189Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5GZG6F5GZG6_HUMAN
Thiamin pyrophosphokinase 1
TPK1
194Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8VRJ6F8VRJ6_HUMAN
Thiamin pyrophosphokinase 1
TPK1
166Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PQB3A0A1W2PQB3_HUMAN
Thiamin pyrophosphokinase 1
TPK1
135Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WCM7F8WCM7_HUMAN
Thiamin pyrophosphokinase 1
TPK1
121Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8VPB3F8VPB3_HUMAN
Thiamin pyrophosphokinase 1
TPK1
42Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8VVJ1F8VVJ1_HUMAN
Thiamin pyrophosphokinase 1
TPK1
79Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAB15465 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti193M → S (PubMed:15489334).Curated1
Sequence conflicti218S → P (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06739140L → P in THMD5. 1 PublicationCorresponds to variant dbSNP:rs387906936EnsemblClinVar.1
Natural variantiVAR_06739250N → H in THMD5. 1 PublicationCorresponds to variant dbSNP:rs387906935EnsemblClinVar.1
Natural variantiVAR_067393219N → S in THMD5. 1 PublicationCorresponds to variant dbSNP:rs371271054EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0563021 – 118MEHAF…EKDLK → M in isoform 2. 1 PublicationAdd BLAST118
Alternative sequenceiVSP_056303205 – 243TNDVL…MAIKS → RTCDYTRTTWIAKDNPVPRL IRLIRLNHICKVPLAIK in isoform 2. 1 PublicationAdd BLAST39

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AB028138 mRNA Translation: BAB20326.1
AF297710 mRNA Translation: AAK01351.1
AY206415 mRNA Translation: AAO38775.1
AK026374 mRNA Translation: BAB15465.1 Different initiation.
AK289652 mRNA Translation: BAF82341.1
AC004534 Genomic DNA No translation available.
AC004743 Genomic DNA No translation available.
AC004833 Genomic DNA No translation available.
AC004864 Genomic DNA No translation available.
AC005677 Genomic DNA No translation available.
AC074384 Genomic DNA No translation available.
CH471146 Genomic DNA Translation: EAW80091.1
CH471146 Genomic DNA Translation: EAW80092.1
BC040555 mRNA Translation: AAH40555.1
BC068460 mRNA Translation: AAH68460.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS5888.1 [Q9H3S4-1]

NCBI Reference Sequences

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RefSeqi
NP_001035947.1, NM_001042482.1
NP_071890.2, NM_022445.3 [Q9H3S4-1]
XP_005250027.1, XM_005249970.1 [Q9H3S4-1]
XP_011514349.1, XM_011516047.2
XP_011514350.1, XM_011516048.1
XP_011514352.1, XM_011516050.1
XP_016867462.1, XM_017011973.1
XP_016867471.1, XM_017011982.1
XP_016867472.1, XM_017011983.1
XP_016867473.1, XM_017011984.1
XP_016867474.1, XM_017011985.1
XP_016867475.1, XM_017011986.1

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.660232

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000360057; ENSP00000353165; ENSG00000196511 [Q9H3S4-1]
ENST00000645943; ENSP00000494003; ENSG00000285075 [Q9H3S4-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
27010

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:27010

UCSC genome browser

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UCSCi
uc003weq.3 human [Q9H3S4-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB028138 mRNA Translation: BAB20326.1
AF297710 mRNA Translation: AAK01351.1
AY206415 mRNA Translation: AAO38775.1
AK026374 mRNA Translation: BAB15465.1 Different initiation.
AK289652 mRNA Translation: BAF82341.1
AC004534 Genomic DNA No translation available.
AC004743 Genomic DNA No translation available.
AC004833 Genomic DNA No translation available.
AC004864 Genomic DNA No translation available.
AC005677 Genomic DNA No translation available.
AC074384 Genomic DNA No translation available.
CH471146 Genomic DNA Translation: EAW80091.1
CH471146 Genomic DNA Translation: EAW80092.1
BC040555 mRNA Translation: AAH40555.1
BC068460 mRNA Translation: AAH68460.1
CCDSiCCDS5888.1 [Q9H3S4-1]
RefSeqiNP_001035947.1, NM_001042482.1
NP_071890.2, NM_022445.3 [Q9H3S4-1]
XP_005250027.1, XM_005249970.1 [Q9H3S4-1]
XP_011514349.1, XM_011516047.2
XP_011514350.1, XM_011516048.1
XP_011514352.1, XM_011516050.1
XP_016867462.1, XM_017011973.1
XP_016867471.1, XM_017011982.1
XP_016867472.1, XM_017011983.1
XP_016867473.1, XM_017011984.1
XP_016867474.1, XM_017011985.1
XP_016867475.1, XM_017011986.1
UniGeneiHs.660232

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1OLYmodel-A/B1-243[»]
3S4YX-ray1.80A/B15-243[»]
ProteinModelPortaliQ9H3S4
SMRiQ9H3S4
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117952, 1 interactor
IntActiQ9H3S4, 2 interactors
MINTiQ9H3S4
STRINGi9606.ENSP00000353165

Chemistry databases

ChEMBLiCHEMBL6155
DrugBankiDB04768 Pyrithiamine Pyrophosphate
DB00152 Thiamine

PTM databases

iPTMnetiQ9H3S4
PhosphoSitePlusiQ9H3S4

Polymorphism and mutation databases

BioMutaiTPK1
DMDMi44888537

Proteomic databases

EPDiQ9H3S4
jPOSTiQ9H3S4
MaxQBiQ9H3S4
PaxDbiQ9H3S4
PeptideAtlasiQ9H3S4
PRIDEiQ9H3S4
ProteomicsDBi80748

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
27010
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000360057; ENSP00000353165; ENSG00000196511 [Q9H3S4-1]
ENST00000645943; ENSP00000494003; ENSG00000285075 [Q9H3S4-1]
GeneIDi27010
KEGGihsa:27010
UCSCiuc003weq.3 human [Q9H3S4-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
27010
DisGeNETi27010
EuPathDBiHostDB:ENSG00000196511.13

GeneCards: human genes, protein and diseases

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GeneCardsi
TPK1
HGNCiHGNC:17358 TPK1
HPAiHPA021545
HPA021849
MalaCardsiTPK1
MIMi606370 gene
614458 phenotype
neXtProtiNX_Q9H3S4
OpenTargetsiENSG00000196511
Orphaneti293955 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
PharmGKBiPA38235

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3153 Eukaryota
COG1564 LUCA
GeneTreeiENSGT00390000016016
HOGENOMiHOG000180834
HOVERGENiHBG003568
InParanoidiQ9H3S4
KOiK00949
OMAiQMEFGGM
OrthoDBi1428589at2759
PhylomeDBiQ9H3S4
TreeFamiTF313224

Enzyme and pathway databases

UniPathwayi
UPA00060;UER00597

BRENDAi2.7.6.2 2681
ReactomeiR-HSA-196819 Vitamin B1 (thiamin) metabolism

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
TPK1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
TPK1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
27010

Protein Ontology

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PROi
PR:Q9H3S4

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000196511 Expressed in 183 organ(s), highest expression level in duodenum
CleanExiHS_TPK1
ExpressionAtlasiQ9H3S4 baseline and differential
GenevisibleiQ9H3S4 HS

Family and domain databases

CDDicd07995 TPK, 1 hit
Gene3Di3.40.50.10240, 1 hit
InterProiView protein in InterPro
IPR006282 Thi_PPkinase
IPR016966 Thiamin_pyrophosphokinase_euk
IPR007373 Thiamin_PyroPKinase_B1-bd
IPR036371 TPK_B1-bd_sf
IPR007371 TPK_catalytic
IPR036759 TPK_catalytic_sf
PfamiView protein in Pfam
PF04265 TPK_B1_binding, 1 hit
PF04263 TPK_catalytic, 1 hit
PIRSFiPIRSF031057 Thiamin_pyrophosphokinase, 1 hit
SMARTiView protein in SMART
SM00983 TPK_B1_binding, 1 hit
SUPFAMiSSF63862 SSF63862, 1 hit
SSF63999 SSF63999, 1 hit
TIGRFAMsiTIGR01378 thi_PPkinase, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiTPK1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9H3S4
Secondary accession number(s): A8K0T7
, D3DWG0, I6L9B8, Q6NUR5, Q9H602
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 1, 2004
Last sequence update: March 1, 2001
Last modified: January 16, 2019
This is version 147 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  7. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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