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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
Location & Maps
more
  • Genetic Map
    Chromosome 8, 1.92 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    MCOLN1, mucolipin 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    MCOLN1, mucolipin 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    MG-2, ML4, MLIV, MST080, MSTP080, TRPML1, TRP-ML1, TRPM-L1
  • Links
    NCBI Gene ID: 57192
    neXtProt AC: NX_Q9GZU1

  • Chr Location
    19p13.2; chr19:7522610-7534009 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Mcoln1 mouse models; 1 with human MCOLN1 associations

Human Disease Mouse Models
       Mucolipidosis IV; ML4   OMIM: 252650 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    29 phenotypes from 2 alleles in 2 genetic backgrounds
    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.
  • All Mutations and Alleles
    3
  • Gene trapped
    1
  • Targeted
    2
  • Incidental Mutations
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
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000026357 VEGA Gene Model | MGI Sequence Detail 14776 C57BL/6J ±  kb
transcript OTTMUST00000065182 VEGA | MGI Sequence Detail 2065 Not Applicable  
polypeptide OTTMUSP00000032445 VEGA | MGI Sequence Detail 580 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    100 from dbSNP Build 142
Protein
Information
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  • UniProt
    6 Sequences
  • Protein Ontology
    PR:000010252 mucolipin-1
  • InterPro Domains
    IPR013122 Polycystin cation channel, PKD1/PKD2
Molecular
Reagents
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  • All nucleic 14
    Genomic 1
    cDNA 10
    Primer pair 1
    Other 2

    Microarray probesets 6
Other
Accession IDs
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MGI:1919606
References
more
  • Summaries
    All 38
    Developmental Gene Expression 4
    Diseases 3
    Gene Ontology 6
    Phenotypes 9
  • 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:228205 Grishchuk Y, et al., Retinal Dystrophy and Optic Nerve Pathology in the Mouse Model of Mucolipidosis IV. Am J Pathol. 2016 Jan;186(1):199-209

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
08/23/2016
MGI 6.05
The Jackson Laboratory