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Mcoln1 Gene Detail
Summary
  • Symbol
    Mcoln1
  • Name
    mucolipin 1
  • Synonyms
    2210015I05Rik, mucolipidin, TRPML1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1890498
    NCBI Gene: 94178
  • Gene Overview
    MyGene.info: MCOLN1
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:3500519-3515232 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 1.92 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    100 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1890498
protein coding gene Chr8:3500457-3515232 (.)
129S1/SvImJ MGP_129S1SvImJ_G0033305
protein coding gene Chr8:417489-435979 (+)
A/J MGP_AJ_G0033288
protein coding gene Chr8:410671-425446 (+)
AKR/J MGP_AKRJ_G0033219
protein coding gene Chr8:428901-443678 (+)
BALB/cJ MGP_BALBcJ_G0033288
protein coding gene Chr8:437526-453863 (+)
C3H/HeJ MGP_C3HHeJ_G0033002
protein coding gene Chr8:438252-455369 (+)
C57BL/6NJ MGP_C57BL6NJ_G0033798
protein coding gene Chr8:451304-468328 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0030771
protein coding gene Chr8:366879-381593 (+)
CAST/EiJ MGP_CASTEiJ_G0032325
protein coding gene Chr8:442418-459215 (+)
CBA/J MGP_CBAJ_G0032975
protein coding gene Chr8:471109-488901 (+)
DBA/2J MGP_DBA2J_G0033129
protein coding gene Chr8:376154-395329 (+)
FVB/NJ MGP_FVBNJ_G0033076
protein coding gene Chr8:431853-446641 (+)
LP/J MGP_LPJ_G0033221
protein coding gene Chr8:423862-439550 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0033111
protein coding gene Chr8:458332-473534 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0033816
protein coding gene Chr8:416911-441118 (+)
PWK/PhJ MGP_PWKPhJ_G0032035
protein coding gene Chr8:398471-416499 (+)
SPRET/EiJ MGP_SPRETEiJ_G0031879
protein coding gene Chr8:417013-434698 (+)
WSB/EiJ MGP_WSBEiJ_G0032438
protein coding gene Chr8:415709-430737 (+)



Homology
more
  • Human Ortholog
    MCOLN1, mucolipin 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    MCOLN1, mucolipin 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    MG-2, ML1, ML4, MLIV, MST080, MSTP080, TRPML1, TRP-ML1, TRPM-L1
  • Links
    NCBI Gene ID: 57192
    neXtProt AC: NX_Q9GZU1
    UniProt: Q9GZU1

  • Chr Location
    19p13.2; chr19:7522610-7534009 (+)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    29 phenotypes from 2 alleles in 2 genetic backgrounds
    15 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for a null allele exhibit premature death around 8 months of age preceeded by weight loss, weakness, lethargy, bladder and stomach distension, and retinal degradation.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 94178 NCBI Gene Model | MGI Sequence Detail 14714 C57BL/6J ±  kb
    transcript NM_053177 RefSeq | MGI Sequence Detail 2039 NMRI  
    polypeptide Q99J21 UniProt | EBI | MGI Sequence Detail 580 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 15
      Genomic 1
      cDNA 11
      Primer pair 1
      Other 2

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:1919606
    References
    more
    • Summaries
      All 48
      Developmental Gene Expression 4
      Gene Ontology 10
      Phenotypes 15
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:262961 Cougnoux A, et al., Microglia activation in Niemann-Pick disease, type C1 is amendable to therapeutic intervention. Hum Mol Genet. 2018 Jun 15;27(12):2076-2089

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    11/13/2018
    MGI 6.13
    The Jackson Laboratory