Tpk1 MGI Mouse Gene Detail - MGI:1352500 - thiamine pyrophosphokinase

Symbol

Tpk1
Name

thiamine pyrophosphokinase

Feature Type

protein coding gene
IDs

MGI:1352500
NCBI Gene: 29807
Alliance

genome feature page
Transcription Start Sites

2 TSS

Sequence Map

Chr6:43321935-43643212 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 6, 21.19 cM, cytoband B2
Mapping Data

3 experiments

SNPs within 2kb

8979 from dbSNP Build 142
Strain Annotations

19

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1352500	protein coding gene	Chr6:43316510-43644726 (-)
129S1/SvImJ	ENSMUSG00200004594	protein coding gene	Chr6:40382226-40703668 (-)
A/J	ENSMUSG00195006755	protein coding gene	Chr6:40284791-40606238 (-)
AKR/J	ENSMUSG00220008861	protein coding gene	Chr6:39950783-40272188 (-)
BALB/cJ	ENSMUSG00180021137	protein coding gene	Chr6:40479440-40800897 (-)
C3H/HeJ	ENSMUSG00175016891	protein coding gene	Chr6:40308411-40629835 (-)
C57BL/6NJ	ENSMUSG00215008423	protein coding gene	Chr6:40434470-40755928 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0028322	protein coding gene	Chr6:38028129-38348052 (-)
CAST/EiJ	ENSTCUG00005032319	protein coding gene	Chr6:39825574-40142937 (-)
CBA/J	ENSMUSG00210017572	protein coding gene	Chr6:40358162-40679522 (-)
DBA/2J	ENSMUSG00185012424	protein coding gene	Chr6:40460700-40782139 (-)
FVB/NJ	ENSMUSG00205017535	protein coding gene	Chr6:40349520-40688647 (-)
JF1/MsJ	ENSUMUG00000016709	protein coding gene	Chr6:39987676-40306358 (-)
LP/J	ENSMUSG00230014073	protein coding gene	Chr6:41385452-41706871 (-)
NOD/ShiLtJ	ENSMUSG00190031446	protein coding gene	Chr6:40266537-40587940 (-)
NZO/HlLtJ	ENSMUSG00225016301	protein coding gene	Chr6:43364937-43686376 (-)
PWK/PhJ	ENSLUMG00010043028	protein coding gene	Chr6:39812811-40143873 (-)
SPRET/EiJ	ENSMSPG00010008190	protein coding gene	Chr6:40421233-40772687 (-)
WSB/EiJ	ENSIUOG00005027220	protein coding gene	Chr6:40596668-40913968 (-)

Human Ortholog

TPK1, thiamin pyrophosphokinase 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

TPK1, thiamin pyrophosphokinase 1
Synonyms

HTPK1, PP20, THMD5
Links

HGNC:17358

NCBI Gene ID: 27010

UniProt: Q9H3S4
Chr Location

7q35; chr7:144451941-144836437 (-) GRCh38

MGI Vertebrate Homology

Tpk1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: TPK1
Protein SuperFamily

Thiamin_pyrophosphokinase
Gene Tree

Tpk1

Diseases

1 with human TPK1 associations

				Human Disease	Mouse Models
				inherited metabolic disorder IDs inherited metabolic disorder DOID:655 MESH:D008661 NCI:C34816 UMLS_CUI:C0025521

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

13 phenotypes from 1 allele in 1 genetic background
1 images
12 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

10
Endonuclease-mediated

3
Gene trapped

4
Targeted

3
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

24 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit decreased embryo size, a rudimentary egg cylinder, failure of primitive streak formation, absent primitive node and head folds, failure to gastrulate, and complete lethality prior to organogenesis.

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All GO Annotations

32
GO References

10

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

707
Tissues

109
cDNA Data

37
Literature Summary

3

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase tpk1

ZFIN tpk1

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All Sequences

52
RefSeq

8
UniProt

1
CCDS

CCDS39474.1, CCDS80529.1

Ensembl

ENSMUSG00000029735 (Evidence)
NCBI Gene

29807

			Length	Strain/Species	Flank
genomic	ENSMUSG00000029735	Ensembl Gene Model \| MGI Sequence Detail	321278	C57BL/6J	± kb
transcript	ENSMUST00000067888	Ensembl \| MGI Sequence Detail	2671	Not Applicable
polypeptide	ENSMUSP00000065631	Ensembl \| MGI Sequence Detail	243	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000016578 thiamine pyrophosphokinase 1

(term hierarchy)
PDB

1IG3, 2F17
EC

2.7.6.-
InterPro Domains

IPR006282 Thiamin pyrophosphokinase

IPR007371 Thiamin pyrophosphokinase, catalytic domain

IPR036759 Thiamin pyrophosphokinase, catalytic domain superfamily

IPR016966 Thiamin pyrophosphokinase, eukaryotic

IPR007373 Thiamin pyrophosphokinase, thiamin-binding domain

IPR036371 Thiamin pyrophosphokinase, thiamin-binding domain superfamily

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All nucleic 41

cDNA 39

Primer pair 2

Microarray probesets 4

Summaries

All 46

Developmental Gene Expression 3

Gene Ontology 10

Phenotypes 12
Earliest

J:335802 Bettendorff L, et al., Mechanism of thiamine transport in neuroblastoma cells. Inhibition of a high affinity carrier by sodium channel activators and dependence of thiamine uptake on membrane potential and intracellular ATP. J Biol Chem. 1994 May 20;269(20):14379-85
Latest

J:387001 Zhang SZ, et al., Astrocytic TPK1 mitigates amyloid pathology via TFEB-mediated endocytosis. Exp Neurol. 2026 Jan 6;398:115640

TSS for Tpk1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr60681	Chr6:43643092-43643158 (-)	87 bp
Tssr60680	Chr6:43643068-43643079 (-)	138 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 09/08/2026 MGI 6.24