mlc1 modulator of VRAC current 1 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: mlc1provided by ZNC
Official Full Name: modulator of VRAC current 1provided by ZNC
Primary source: ZFIN:ZDB-GENE-050419-145
See related: Ensembl:ENSDARG00000063026 AllianceGenome:ZFIN:ZDB-GENE-050419-145
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: si:ch211-192n14.1
Summary: Acts upstream of or within protein localization to cell surface. Located in cell-cell junction. Is expressed in nervous system and radial glial cell. Human ortholog(s) of this gene implicated in megalencephalic leukoencephalopathy with subcortical cysts 1. Orthologous to human MLC1 (modulator of VRAC current 1). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: human mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: chromosome: 18

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
106	current	GRCz11 (GCF_000002035.6)	18	NC_007129.7 (14927004..14941900, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	18	NC_007129.6 (14958345..14973382, complement)

Chromosome 18 - NC_007129.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

we demonstrate an evolutionary conserved role for MLC1 in regulating glial surface levels of GLIALCAM, and this interrelationship explains why patients with mutations in either gene (MLC1 or GLIALCAM) share the same clinical phenotype.
Title: Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans.

Submit: New GeneRIF Correction

General gene information

Go to the top of the page Help

Gene Ontology Provided by ZFIN

Process	Evidence Code	Pubs
acts_upstream_of_or_within protein localization to cell surface	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of response to osmotic stress	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasmic vesicle	IBA Inferred from Biological aspect of Ancestor more info
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

Go to the top of the page Help

Preferred Names: membrane protein MLC1

Names: megalencephalic leukoencephalopathy with subcortical cysts 1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_001104939.1 → NP_001098409.1 membrane protein MLC1

See identical proteins and their annotated locations for NP_001098409.1

Status: PROVISIONAL

Source sequence(s)

BC151967

UniProtKB/TrEMBL

A7MBY5

Related

ENSDARP00000086162.4, ENSDART00000091729.5

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_007129.7 Reference GRCz11 Primary Assembly

Range

14927004..14941900 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005169943.4 → XP_005170000.1 membrane protein MLC1 isoform X2

UniProtKB/TrEMBL

A0A8M2BH89
XM_017351934.2 → XP_017207423.1 membrane protein MLC1 isoform X1

UniProtKB/TrEMBL

A0A8M9PQ91
XM_005169941.4 → XP_005169998.1 membrane protein MLC1 isoform X1

UniProtKB/TrEMBL

A0A8M9PQ91
XM_021467665.1 → XP_021323340.1 membrane protein MLC1 isoform X1

UniProtKB/TrEMBL

A0A8M9PQ91