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Mcoln1 mucolipin 1 [ Mus musculus (house mouse) ]

Gene ID: 94178, updated on 24-Jan-2023

Summary

Official Symbol
Mcoln1provided by MGI
Official Full Name
mucolipin 1provided by MGI
Primary source
MGI:MGI:1890498
See related
Ensembl:ENSMUSG00000004567 AllianceGenome:MGI:1890498
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
TRPML1; mucolipidin; 2210015I05Rik
Summary
Enables intracellular phosphatidylinositol-3,5-bisphosphate-sensitive cation channel activity. Involved in several processes, including cellular response to calcium ion; cellular response to pH; and protein homotetramerization. Acts upstream of or within autophagosome maturation. Is integral component of membrane. Is active in intracellular vesicle. Is expressed in several structures, including cochlea; genitourinary system; liver; lung; and spleen. Used to study mucolipidosis type IV. Human ortholog(s) of this gene implicated in glycoproteinosis and mucolipidosis type IV. Orthologous to human MCOLN1 (mucolipin TRP cation channel 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in adrenal adult (RPKM 109.5), ovary adult (RPKM 65.5) and 28 other tissues See more
Orthologs
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Genomic context

See Mcoln1 in Genome Data Viewer
Location:
8 A1.1; 8 1.92 cM
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (3550458..3565232)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (3500519..3515232)

Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene peroxisomal biogenesis factor 11 gamma Neighboring gene testis expressed 45 Neighboring gene zinc finger protein 358 Neighboring gene patatin-like phospholipase domain containing 6 Neighboring gene ribosomal protein S23, retrogene 1 Neighboring gene ribosomal protein S23, pseudogene 2

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (2)  1 citation
  • Endonuclease-mediated (4) 

Pathways from PubChem

General gene information

Markers

Homology

Clone Names

  • MGC7172

Gene Ontology Provided by MGI

Component Evidence Code Pubs
located_in Golgi apparatus ISO
Inferred from Sequence Orthology
more info
 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
located_in endosome IEA
Inferred from Electronic Annotation
more info
 
located_in intracellular membrane-bounded organelle ISO
Inferred from Sequence Orthology
more info
 
is_active_in intracellular vesicle EXP
Inferred from Experiment
more info
PubMed 
located_in late endosome ISO
Inferred from Sequence Orthology
more info
PubMed 
is_active_in lysosomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in lysosomal membrane ISO
Inferred from Sequence Orthology
more info
 
located_in lysosome ISO
Inferred from Sequence Orthology
more info
 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane ISO
Inferred from Sequence Orthology
more info
PubMed 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of receptor complex ISO
Inferred from Sequence Orthology
more info
PubMed 

General protein information

Preferred Names
mucolipin-1
Names
transient receptor potential-mucolipin 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_053177.1NP_444407.1  mucolipin-1

    See identical proteins and their annotated locations for NP_444407.1

    Status: VALIDATED

    Source sequence(s)
    BC005651
    Consensus CDS
    CCDS22063.1
    UniProtKB/Swiss-Prot
    Q99J21
    Related
    ENSMUSP00000004683.7, ENSMUST00000004683.13
    Conserved Domains (2) summary
    pfam08016
    Location:388524
    PKD_channel; Polycystin cation channel
    cd21070
    Location:112292
    ELD_TRPML1; extracytosolic/lumenal domain (ELD) found in transient receptor potential channel mucolipin 1 (TRPML1)

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000074.7 Reference GRCm39 C57BL/6J

    Range
    3550458..3565232
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_004934904.1 RNA Sequence