Mcoln1 mucolipin TRP cation channel 1 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Mcoln1provided by RGD
Official Full Name: mucolipin TRP cation channel 1provided by RGD
Primary source: RGD:1308953
See related: EnsemblRapid:ENSRNOG00000000975 AllianceGenome:RGD:1308953
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Enables NAADP-sensitive calcium-release channel activity. Involved in release of sequestered calcium ion into cytosol. Located in lysosomal membrane. Human ortholog(s) of this gene implicated in Lisch epithelial corneal dystrophy; glycoproteinosis; and mucolipidosis type IV. Orthologous to human MCOLN1 (mucolipin TRP cation channel 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in Kidney (RPKM 197.5), Brain (RPKM 83.1) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 12p12

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	12	NC_086030.1 (6357851..6372151)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	12	NC_051347.1 (1560341..1574252)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	12	NC_005111.4 (2054629..2068682)

Chromosome 12 - NC_086030.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Transient Receptor Potential Mucolipin-1 Participates in Intracerebral Hemorrhage-Induced Secondary Brain Injury by Inducing Neuroinflammation and Neuronal Cell Death.
Title: Transient Receptor Potential Mucolipin-1 Participates in Intracerebral Hemorrhage-Induced Secondary Brain Injury by Inducing Neuroinflammation and Neuronal Cell Death.
The inhibition of TRPML1/TFEB leads to lysosomal biogenesis disorder, contributes to developmental fluoride neurotoxicity.
Title: The inhibition of TRPML1/TFEB leads to lysosomal biogenesis disorder, contributes to developmental fluoride neurotoxicity.
Lysosomal calcium is modulated by STIM1/TRPML1 interaction which participates to neuronal survival during ischemic preconditioning.
Title: Lysosomal calcium is modulated by STIM1/TRPML1 interaction which participates to neuronal survival during ischemic preconditioning.

Submit: New GeneRIF Correction

General gene information

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Markers

Mcoln1 (e-PCR), detects polymorphism
- UniSTS:531215

PMC88885P1 (e-PCR)
- UniSTS:273608

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables NAADP-sensitive calcium-release channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables NAADP-sensitive calcium-release channel activity	IDA Inferred from Direct Assay more info	PubMed
enables calcium channel activity	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables intracellularly phosphatidylinositol-3,5-bisphosphate-gated monatomic cation channel activity	ISO Inferred from Sequence Orthology more info
enables iron ion transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables ligand-gated calcium channel activity	ISO Inferred from Sequence Orthology more info
enables monoatomic anion channel activity	IEA Inferred from Electronic Annotation more info
enables monoatomic anion channel activity	ISO Inferred from Sequence Orthology more info
enables potassium channel activity	IEA Inferred from Electronic Annotation more info
enables potassium channel activity	ISO Inferred from Sequence Orthology more info
enables sodium channel activity	IEA Inferred from Electronic Annotation more info
enables sodium channel activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within autophagosome maturation	ISO Inferred from Sequence Orthology more info
involved_in calcium ion export	ISO Inferred from Sequence Orthology more info
involved_in calcium ion transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in calcium-mediated signaling	IEA Inferred from Electronic Annotation more info
involved_in cellular response to calcium ion	ISO Inferred from Sequence Orthology more info
involved_in cellular response to pH	ISO Inferred from Sequence Orthology more info
involved_in iron ion transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in monoatomic anion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in monoatomic cation transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in phagosome maturation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of lysosome organization	ISO Inferred from Sequence Orthology more info
involved_in potassium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in protein homotetramerization	ISO Inferred from Sequence Orthology more info
involved_in release of sequestered calcium ion into cytosol	IDA Inferred from Direct Assay more info	PubMed
involved_in sodium ion transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in endosome membrane	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	ISO Inferred from Sequence Orthology more info
located_in late endosome	ISO Inferred from Sequence Orthology more info
is_active_in lysosomal membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in lysosomal membrane	ISO Inferred from Sequence Orthology more info
located_in lysosome	ISO Inferred from Sequence Orthology more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
part_of receptor complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: mucolipin-1

Names: 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)

NM_001105903.1 → NP_001099373.1 mucolipin-1

See identical proteins and their annotated locations for NP_001099373.1

Status: PROVISIONAL

Source sequence(s)

CH474084

UniProtKB/TrEMBL

A0A8I6AQ69, A6KQ06

Related

ENSRNOP00000096156.2, ENSRNOT00000095810.2

Conserved Domains (1) summary

pfam08016
Location:388 → 524

PKD_channel; Polycystin cation channel

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086030.1 Reference GRCr8

Range

6357851..6372151

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_063271109.1 → XP_063127179.1 mucolipin-1 isoform X8
XM_063271108.1 → XP_063127178.1 mucolipin-1 isoform X5
XM_039089143.2 → XP_038945071.1 mucolipin-1 isoform X4

UniProtKB/TrEMBL

A0A8I6AQ69, A0A8I6G3L4

Conserved Domains (2) summary

PLN03223
Location:388 → 496

PLN03223; Polycystin cation channel protein; Provisional

cl41763
Location:127 → 274

ELD_TRPML; extracytosolic/lumenal domain (ELD) found in transient receptor potential channel mucolipins (TRPMLs)
XM_006248754.5 → XP_006248816.1 mucolipin-1 isoform X1

UniProtKB/TrEMBL

A0A8I6AQ69, A0A8I6G3L4

Conserved Domains (1) summary

PLN03223
Location:457 → 565

PLN03223; Polycystin cation channel protein; Provisional
XM_006248755.5 → XP_006248817.1 mucolipin-1 isoform X2

UniProtKB/TrEMBL

A0A8I6AQ69, D3ZRF9

Related

ENSRNOP00000001290.5, ENSRNOT00000001290.7

Conserved Domains (1) summary

PLN03223
Location:442 → 550

PLN03223; Polycystin cation channel protein; Provisional
XM_006248756.5 → XP_006248818.1 mucolipin-1 isoform X3

UniProtKB/TrEMBL

A0A8I6AQ69, A0A8I6G3L4

Conserved Domains (1) summary

pfam08016
Location:403 → 539

PKD_channel; Polycystin cation channel
XM_039089145.2 → XP_038945073.1 mucolipin-1 isoform X7

Conserved Domains (2) summary

PLN03223
Location:148 → 256

PLN03223; Polycystin cation channel protein; Provisional

cl41763
Location:3 → 34

ELD_TRPML; extracytosolic/lumenal domain (ELD) found in transient receptor potential channel mucolipins (TRPMLs)
XM_039089144.2 → XP_038945072.1 mucolipin-1 isoform X6

Conserved Domains (2) summary

PLN03223
Location:217 → 325

PLN03223; Polycystin cation channel protein; Provisional

cl41763
Location:3 → 67

ELD_TRPML; extracytosolic/lumenal domain (ELD) found in transient receptor potential channel mucolipins (TRPMLs)