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; chr19:7587496-7598895 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human MCOLN1

Alleles and phenotypes

All alleles(3) : Targeted(2) Gene trapped(1)
 

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: (17 annotations)

Process	calcium ion transport, cation 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 Type	Results
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 Model	OTTMUSG00000026357 (Evidence)
Ensembl Gene Model	ENSMUSG00000004567 (Evidence)
Entrez Gene	94178 (Evidence)
DFCI	TC1576746, TC1587658, TC1649915
DoTS	DT.101286175, DT.491621, DT.55261428, DT.94273055
NIA Mouse Gene Index	U009023
Consensus CDS Project	CCDS22063.1
International Mouse Knockout Project Status	Mcoln1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000026357	VEGA Gene Model | MGI Sequence Detail	14776	C57BL/6J
transcript	OTTMUST00000065182	VEGA | MGI Sequence Detail	2065	Not Applicable
polypeptide	OTTMUSP00000032445	VEGA | MGI Sequence Detail	580	Not Applicable

All sequences(46) RefSeq(2) UniProt(2)

Polymorphisms

SNPs(70 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:189070 Wang X, et al., TPC Proteins Are Phosphoinositide- Activated Sodium-Selective Ion Channels in Endosomes and Lysosomes. Cell. 2012 Oct 12;151(2):372-83
All references(37)

Other accession IDs

MGI:1919606