About   Help   FAQ
Tpcn1 Gene Detail
Summary
  • Symbol
    Tpcn1
  • Name
    two pore channel 1
  • Synonyms
    5730403B01Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2182472
    NCBI Gene: 252972
  • Alliance
    gene page
  • Transcription Start Sites
    15 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:120672222-120726731 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 60.63 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1632 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2182472
 protein coding gene Chr5:120672218-120726738 (-)
129S1/SvImJ MGP_129S1SvImJ_G0030006
 protein coding gene Chr5:123891442-123971349 (-)
A/J MGP_AJ_G0029970
 protein coding gene Chr5:118779361-118834369 (-)
AKR/J MGP_AKRJ_G0029909
 protein coding gene Chr5:122609179-122669902 (-)
BALB/cJ MGP_BALBcJ_G0029981
 protein coding gene Chr5:120194701-120251794 (-)
C3H/HeJ MGP_C3HHeJ_G0029701
 protein coding gene Chr5:123142292-123206143 (-)
C57BL/6NJ MGP_C57BL6NJ_G0030436
 protein coding gene Chr5:128556218-128625233 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0027662
 protein coding gene Chr5:113487088-113544261 (-)
CAST/EiJ MGP_CASTEiJ_G0029110
 protein coding gene Chr5:122269215-122331455 (-)
CBA/J MGP_CBAJ_G0029669
 protein coding gene Chr5:133540828-133615343 (-)
DBA/2J MGP_DBA2J_G0029819
 protein coding gene Chr5:118863162-118919053 (-)
FVB/NJ MGP_FVBNJ_G0029775
 protein coding gene Chr5:117785650-117844501 (-)
LP/J MGP_LPJ_G0029907
 protein coding gene Chr5:124363153-124422218 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0029806
 protein coding gene Chr5:137516238-137580149 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0030477
 protein coding gene Chr5:122186261-122248428 (-)
PWK/PhJ MGP_PWKPhJ_G0028823
 protein coding gene Chr5:117623668-117680105 (-)
SPRET/EiJ MGP_SPRETEiJ_G0028662
 protein coding gene Chr5:119851177-119907534 (-)
WSB/EiJ MGP_WSBEiJ_G0029185
 protein coding gene Chr5:122776279-122841592 (-)



Homology
more
  • Human Ortholog
    TPCN1, two pore segment channel 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TPCN1, two pore segment channel 1
  • Synonyms
    TPC1
  • Links
    NCBI Gene ID: 53373
    neXtProt AC: NX_Q9ULQ1
    UniProt: Q9ULQ1

  • Chr Location
    12q24.13; chr12:113221050-113298585 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    5 phenotypes from 3 alleles in 3 genetic backgrounds
    1 phenotype from multigenic genotypes
    30 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 inactivation of this gene results in no apparent phenotypic abnormalities.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    34
  • GO References
    11
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
non-membrane-bounded 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
    800
  • Tissues
    57
  • cDNA Data
    89
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 252972 NCBI Gene Model | MGI Sequence Detail 54510 C57BL/6J ±  kb
    transcript NM_001418256 RefSeq | MGI Sequence Detail 4690 C57BL/6  
    polypeptide Q9EQJ0 UniProt | EBI | MGI Sequence Detail 817 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 99
      Genomic 6
      cDNA 90
      Primer pair 3

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:2443784
    References
    more
    • Summaries
      All 64
      Developmental Gene Expression 3
      Gene Ontology 11
      Phenotypes 30
    • Earliest
      J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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
    10/22/2024
    MGI 6.24     		The Jackson Laboratory