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FLASH GENE

Symbol

TPK1

contributors: mct - updated : 16-12-2011

HGNC name	thiamin pyrophosphokinase 1
HGNC id	17358

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	TPK1D thiamin pyrophosphokinase 1 deficiency
Location	7q35      Physical location : 144.149.042 - 144.533.146
Synonym name	placental protein 20
	thiamine diphosphokinase
Synonym symbol(s)	HTPK1, PP20
EC.number	2.7.6.2

DNA

TYPE	functioning gene
STRUCTURE	384.11 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site
text structure	numerous putative transcription factor binding sites, which might be responsible for the ubiquitous expression
	minimal region required for basal activity of the promoter, which was encoded in a sequence between -105 and +441 relative to the transcription start site, and importance of the Sp1 cis-element in regulating the TPK1 gene expression (

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_022445 9 - 2449 - 243 - 2005 16262001 NM_001042482 8 - 2302 - 194 - 2005 16262001

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol blood / hematopoietic spleen       lowly Cardiovascular heart       moderately Digestive intestine small intestine     highly   liver       lowly Nervous brain       lowly Reproductive male system testis     highly Urinary kidney       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic         Lymphoid

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic leukocyte

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text	placenta, highly expressed

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

homomer , dimer

HOMOLOGY

interspecies

homolog to murine Tpk1

Homologene

FAMILY

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus

basic FUNCTION	catalysing phosphorylation of thiamin to thiamin pyrophosphate, an active enzyme cofactor
	may have a role in placental diseases
	transfers a pyrophosphate group from a nucleoside triphosphate, such as ATP, to the hydroxyl group of thiamine to produce thiamine pyrophosphate
	essential enzyme cofactor required for the viability of all organisms
	thiamine is taken up by specific transporters into the cell and converted to the active TPP by TPK1 in the cytosol from where it can be transported into mitochondria

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

vitamin

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

TPK1D

Susceptibility

to variability of birth weight

Variant & Polymorphism other	genomic variations in the fetal and maternal TPK1 gene could contribute to the variability of birth weight

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS