mcoln1a mucolipin TRP cation channel 1a [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: mcoln1aprovided by ZNC
Official Full Name: mucolipin TRP cation channel 1aprovided by ZNC
Primary source: ZFIN:ZDB-GENE-040426-2704
See related: Ensembl:ENSDARG00000002285 AllianceGenome:ZFIN:ZDB-GENE-040426-2704
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: mcoln1; mcoln1.1; zgc:63619
Summary: Predicted to enable NAADP-sensitive calcium-release channel activity. Acts upstream of or within several processes, including neuromast hair cell development; regulation of late endosome to lysosome transport; and retina homeostasis. Located in late endosome and lysosome. Is expressed in several structures, including intermediate cell mass of mesoderm; nervous system; pleuroperitoneal region; yolk; and yolk syncytial layer. 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]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 1

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
106	current	GRCz11 (GCF_000002035.6)	1	NC_007112.7 (45671688..45697257)
105	previous assembly	GRCz10 (GCF_000002035.5)	1	NC_007112.6 (44979893..45005462)

Chromosome 1 - NC_007112.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

study characterized mcoln1.1 and mcoln1.2, the putative co-orthologs of human MCOLN1 gene
Title: Characterization and expression analysis of mcoln1.1 and mcoln1.2, the putative zebrafish co-orthologs of the gene responsible for human mucolipidosis type IV.

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General gene information

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Markers

AI397463 (e-PCR)
- UniSTS:206647

fa99c02.x1 (e-PCR)
- UniSTS:202633

Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables NAADP-sensitive calcium-release channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables monoatomic cation channel activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within autophagy	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within neuromast hair cell development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of late endosome to lysosome transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retina homeostasis	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in endosome membrane	IEA Inferred from Electronic Annotation more info
located_in late endosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in lysosomal membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in lysosome	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: mucolipin-1a

Names: mucolipin 1; mucolipin 1.1; mucolipin 1a

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_001328165.1 → NP_001315094.1 mucolipin-1a

Status: VALIDATED

Source sequence(s)

BX511120

UniProtKB/TrEMBL

A0A8M1PA13, A2BGV1

Related

ENSDARP00000118341.1, ENSDART00000146101.2

RefSeqs of Annotated Genomes: Danio rerio Annotation Release 106 details...

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

Reference GRCz11 Primary Assembly

Genomic

NC_007112.7 Reference GRCz11 Primary Assembly

Range

45671688..45697257

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_213380.1: Suppressed sequence

Description

NM_213380.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.