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Tpk1 Gene Detail
Summary
  • Symbol
    Tpk1
  • Name
    thiamine pyrophosphokinase
  • Feature Type
    protein coding gene
  • IDs
    MGI:1352500
    NCBI Gene: 29807
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • 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
Strain
Comparison
more
  • SNPs within 2kb
    8979 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1352500
 protein coding gene Chr6:43316510-43644726 (-)
129S1/SvImJ MGP_129S1SvImJ_G0030678
 protein coding gene Chr6:41980751-42312353 (-)
A/J MGP_AJ_G0030651
 protein coding gene Chr6:40126659-40451396 (-)
AKR/J MGP_AKRJ_G0030576
 protein coding gene Chr6:41463632-41798086 (-)
BALB/cJ MGP_BALBcJ_G0030661
 protein coding gene Chr6:40414839-40740745 (-)
C3H/HeJ MGP_C3HHeJ_G0030374
 protein coding gene Chr6:41468571-41806727 (-)
C57BL/6NJ MGP_C57BL6NJ_G0031115
 protein coding gene Chr6:42980434-43328015 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0028322
 protein coding gene Chr6:38028129-38348052 (-)
CAST/EiJ MGP_CASTEiJ_G0029778
 protein coding gene Chr6:41238825-41565069 (-)
CBA/J MGP_CBAJ_G0030349
 protein coding gene Chr6:44725518-45070762 (-)
DBA/2J MGP_DBA2J_G0030498
 protein coding gene Chr6:39999363-40319296 (-)
FVB/NJ MGP_FVBNJ_G0030449
 protein coding gene Chr6:39720625-40043953 (-)
LP/J MGP_LPJ_G0030582
 protein coding gene Chr6:41967312-42301667 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0030484
 protein coding gene Chr6:47049596-47408962 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0031145
 protein coding gene Chr6:41391816-41720921 (-)
PWK/PhJ MGP_PWKPhJ_G0029490
 protein coding gene Chr6:39543633-39864511 (-)
SPRET/EiJ MGP_SPRETEiJ_G0029326
 protein coding gene Chr6:40941589-41267568 (-)
WSB/EiJ MGP_WSBEiJ_G0029854
 protein coding gene Chr6:41358089-41686495 (-)



Homology
more
  • 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
    NCBI Gene ID: 27010
    neXtProt AC: NX_Q9H3S4
    UniProt: Q9H3S4

  • Chr Location
    7q35; chr7:144451941-144836437 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human TPK1 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    13 phenotypes from 1 allele in 1 genetic background
    1 images
    10 phenotype references
Phenotype Overview

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.
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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    18
  • 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.
Expression
less
Expression Overview

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
    816
  • Tissues
    109
  • cDNA Data
    37
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    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  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      1 Sequence
    • Protein Ontology
      PR:000016578 thiamin pyrophosphokinase 1
      (term hierarchy)
    • PDB
      1IG3, 2F17
    • 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
    Molecular
    Reagents
    less
    • All nucleic 41
      cDNA 39
      Primer pair 2

      Microarray probesets 4
    References
    more
    • Summaries
      All 42
      Developmental Gene Expression 3
      Gene Ontology 10
      Phenotypes 10
    • 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:347303 Sahu U, et al., Pyrimidines maintain mitochondrial pyruvate oxidation to support de novo lipogenesis. Science. 2024 Mar 29;383(6690):1484-1492
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory