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Mcoln1
Gene Detail
 Symbol
Name
ID
Mcoln1
mucolipin 1
MGI:1890498
Synonyms 2210015I05Rik, mucolipidin, TRPML1
Feature Type protein coding gene
Genetic Map
Chromosome 8
1.92 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr8:3500457-3515232 bp, + strand
From VEGA annotation of GRCm38

  14776 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:10744  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: transient receptor potential cation channel, subfamily ML
Gene Tree: Mcoln1

Human
homologs
Human Homolog MCOLN1, mucolipin 1
NCBI Gene ID 57192
neXtProt AC  NX_Q9GZU1
Human Synonyms  MG-2, ML4, MLIV, MST080, TRPML1, TRP-ML1, TRPM-L1
Human Chr (Location)  19p13.2; chr19:7522610-7534009 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human MCOLN1
Alleles
and
phenotypes
All alleles(3) : Gene trapped(1) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Mcoln1 (1)    Alleles Annotated to Human Diseases(2)   
Gene Ontology
(GO)
classifications
All GO classifications: (20 annotations)
Process calcium ion transmembrane transport, calcium ion transport, ...
Component cytoplasm, endosome, ...
Function cation channel activity, NAADP-sensitive calcium-release channel activity
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (27)    Tissues (15)    Images (3)
Theiler Stages: 10, 18, 23, 25, 26, 28
Assay TypeResults
Northern blot 20
RT-PCR 7
cDNA source data(8)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(14) Genomic(1) cDNA(10) Primer pair(1) Other(2)
Microarray probesets(6)
Other database
links
VEGA Gene ModelOTTMUSG00000026357 (Evidence)
Ensembl Gene ModelENSMUSG00000004567 (Evidence)
Entrez Gene94178 (Evidence)
DFCITC1576746, TC1587658, TC1649915
DoTSDT.101286175, DT.491621, DT.55261428, DT.94273055
NIA Mouse Gene IndexU009023
Consensus CDS ProjectCCDS22063.1
International Mouse Knockout Project StatusMcoln1
Sequences
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 sequences
All sequences(48) RefSeq(4) UniProt(2)
Polymorphisms SNPs within 2kb(100 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR013122 Polycystin cation channel, PKD1/PKD2
Protein Ontology PR:000010252 mucolipin-1
References (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:194542 Ghai R, et al., Structural basis for endosomal trafficking of diverse transmembrane cargos by PX-FERM proteins. Proc Natl Acad Sci U S A. 2013 Feb 19;110(8):E643-52
All references(38)
Other
accession IDs
MGI:1919606

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
07/15/2014
MGI 5.18
The Jackson Laboratory