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Slc25a19 Gene Detail
Summary
  • Symbol
    Slc25a19
  • Name
    solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
  • Synonyms
    2900089E13Rik, DNC, MUP1, TPC
  • Feature Type
    protein coding gene
  • IDs
    MGI:1914533
    NCBI Gene: 67283
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:115505004-115519121 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 80.91 cM, cytoband E2
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    469 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1914533
 protein coding gene Chr11:115504991-115519122 (-)
129S1/SvImJ MGP_129S1SvImJ_G0019397
 protein coding gene Chr11:119657056-119672269 (-)
A/J MGP_AJ_G0019366
 protein coding gene Chr11:114431181-114445505 (-)
AKR/J MGP_AKRJ_G0019336
 protein coding gene Chr11:117841720-117855587 (-)
BALB/cJ MGP_BALBcJ_G0019340
 protein coding gene Chr11:114849123-114863611 (-)
C3H/HeJ MGP_C3HHeJ_G0019146
 protein coding gene Chr11:118200402-118214528 (-)
C57BL/6NJ MGP_C57BL6NJ_G0019790
 protein coding gene Chr11:123307634-123321720 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0017413
 protein coding gene Chr11:111455329-111469414 (-)
CAST/EiJ MGP_CASTEiJ_G0018701
 protein coding gene Chr11:119520343-119533494 (-)
CBA/J MGP_CBAJ_G0019118
 protein coding gene Chr11:128190420-128208353 (-)
DBA/2J MGP_DBA2J_G0019229
 protein coding gene Chr11:113863062-113878439 (-)
FVB/NJ MGP_FVBNJ_G0019221
 protein coding gene Chr11:113351289-113365394 (-)
LP/J MGP_LPJ_G0019299
 protein coding gene Chr11:120041297-120055422 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0019254
 protein coding gene Chr11:127323677-127341524 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0019828
 protein coding gene Chr11:118499477-118514693 (-)
PWK/PhJ MGP_PWKPhJ_G0018465
 protein coding gene Chr11:115153209-115170491 (-)
SPRET/EiJ MGP_SPRETEiJ_G0018258
 protein coding gene Chr11:118248512-118262555 (-)
WSB/EiJ MGP_WSBEiJ_G0018753
 protein coding gene Chr11:118463598-118479538 (-)



Homology
more
  • Human Ortholog
    SLC25A19, solute carrier family 25 member 19
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SLC25A19, solute carrier family 25 member 19
  • Synonyms
    DNC, MCPHA, MTPPT, MUP1, THMD3, THMD4, TPC
  • Links
    NCBI Gene ID: 60386
    neXtProt AC: NX_Q9HC21
    UniProt: Q9HC21

  • Chr Location
    17q25.1; chr17:75272981-75289510 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with human SLC25A19 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    15 phenotypes from 1 allele in 1 genetic background
    2 images
    9 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.
Homozygous mutation of this gene results in lethality by E12, neural tube closure defects resulting in exencephaly and microcephaly, growth arrest, anemia, elevated alpha-ketoglutarate in amniotic fluid, and reduced thiamine pyrophosphate content in mitochondria.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    16
  • GO References
    8
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
    712
  • Tissues
    5
  • cDNA Data
    16
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000020744 Ensembl Gene Model | MGI Sequence Detail 14118 C57BL/6J ±  kb
    transcript ENSMUST00000021089 Ensembl | MGI Sequence Detail 2307 Not Applicable  
    polypeptide ENSMUSP00000021089 Ensembl | MGI Sequence Detail 318 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 18
      cDNA 17
      Primer pair 1

      Microarray probesets 4
    References
    more
    • Summaries
      All 41
      Developmental Gene Expression 2
      Gene Ontology 8
      Phenotypes 9
    • Earliest
      J:335803 Bettendorff L, The compartmentation of phosphorylated thiamine derivatives in cultured neuroblastoma cells. Biochim Biophys Acta. 1994 May 26;1222(1):7-14
    • Latest
      J:228920 Srinivasan P, et al., Chronic alcohol exposure affects pancreatic acinar mitochondrial thiamin pyrophosphate uptake: studies with mouse 266-6 cell line and primary cells. Am J Physiol Gastrointest Liver Physiol. 2015 Nov 1;309(9):G750-8
    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
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory