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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
  • Alliance
    genome feature page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:3550458-3565232 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 1.92 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    358 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1890498
 protein coding gene Chr8:3550457-3565232 (+)
129S1/SvImJ ENSMUSG00200011380
 protein coding gene Chr8:364814-379855 (+)
A/J ENSMUSG00195009697
 protein coding gene Chr8:773956-788733 (+)
AKR/J ENSMUSG00220010118
 protein coding gene Chr8:500487-515264 (+)
BALB/cJ ENSMUSG00180004400
 protein coding gene Chr8:424538-439317 (+)
C3H/HeJ ENSMUSG00175007332
 protein coding gene Chr8:539064-553839 (+)
C57BL/6NJ ENSMUSG00215004916
 protein coding gene Chr8:453426-468201 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0030771
 protein coding gene Chr8:366879-381593 (+)
CAST/EiJ ENSTCUG00005019576
 protein coding gene Chr8:514414-529289 (+)
CBA/J ENSMUSG00210010416
 protein coding gene Chr8:416635-431410 (+)
DBA/2J ENSMUSG00185003326
 protein coding gene Chr8:552679-567454 (+)
FVB/NJ ENSMUSG00205005000
 protein coding gene Chr8:486487-501262 (+)
JF1/MsJ ENSUMUG00000040483
 protein coding gene Chr8:501405-516441 (+)
LP/J ENSMUSG00230005794
 protein coding gene Chr8:2722264-2737039 (+)
NOD/ShiLtJ ENSMUSG00190010156
 protein coding gene Chr8:526702-541477 (+)
NZO/HlLtJ ENSMUSG00225015663
 protein coding gene Chr8:10589293-10604050 (+)
PWK/PhJ ENSLUMG00010009275
 protein coding gene Chr8:458617-473692 (+)
SPRET/EiJ ENSMSPG00010015710
 protein coding gene Chr8:432179-446786 (+)
WSB/EiJ ENSIUOG00005004283
 protein coding gene Chr8:462862-477653 (+)



Homology
more
  • Human Ortholog
    MCOLN1, mucolipin TRP cation channel 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MCOLN1, mucolipin TRP cation channel 1
  • Synonyms
    LECD, MG-2, ML1, ML4, MLIV, MST080, MSTP080, TRP-ML1, TRPM-L1, TRPML1
  • Links
    NCBI Gene ID: 57192
    UniProt: Q9GZU1

  • Chr Location
    19p13.2; chr19:7522611-7534009 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Mcoln1 mouse models; 3 with human MCOLN1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    29 phenotypes from 2 alleles in 2 genetic backgrounds
    45 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 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
    89
  • GO References
    17
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
    646
  • Tissues
    27
  • cDNA Data
    9
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 94178 NCBI Gene Model | MGI Sequence Detail 14775 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 18
      Genomic 1
      cDNA 11
      Primer pair 3
      Other 3

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:1919606
    References
    more
    • Summaries
      All 98
      Developmental Gene Expression 5
      Diseases 1
      Gene Ontology 17
      Phenotypes 45
    • 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:387638 Weiden EM, et al., TRPML1 suppresses pulmonary fibrosis by limiting collagen and elastin deposition. EMBO J. 2026 Apr;45(7):2182-2209
    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
    09/08/2026
    MGI 6.24     		The Jackson Laboratory