Myl9 myosin, light polypeptide 9, regulatory [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Myl9provided by MGI
Official Full Name: myosin, light polypeptide 9, regulatoryprovided by MGI
Primary source: MGI:MGI:2138915
See related: Ensembl:ENSMUSG00000067818 AllianceGenome:MGI:2138915
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: MLC20; RLC-C; Mylc2c
Summary: Enables myosin heavy chain binding activity. Predicted to be involved in myofibril assembly. Located in Z disc and stress fiber. Part of myosin II complex. Is expressed in several structures, including cardiovascular system; central nervous system; genitourinary system; gut; and lung. Human ortholog(s) of this gene implicated in familial hypertrophic cardiomyopathy and megacystis-microcolon-intestinal hypoperistalsis syndrome. Orthologous to human MYL9 (myosin light chain 9). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Biased expression in bladder adult (RPKM 1647.7), colon adult (RPKM 313.1) and 8 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 H1; 2 77.77 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (156617373..156623578)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (156775408..156781657)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MYL9 deficiency is neonatal lethal in mice due to abnormalities in the lung and the muscularis propria of the bladder and intestine.
Title: MYL9 deficiency is neonatal lethal in mice due to abnormalities in the lung and the muscularis propria of the bladder and intestine.
findings reveal a role of Cx40 in regulation of ROCK1 and MLC20 that contributes critically to lung vascular barrier failure in acute lung injury.
Title: Connexin 40 regulates lung endothelial permeability in acute lung injury via the ROCK1-MYPT1- MLC20 pathway.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables myosin heavy chain binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in myofibril assembly	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in Z disc	IDA Inferred from Direct Assay more info	PubMed
located_in cell cortex	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in myofibril	IBA Inferred from Biological aspect of Ancestor more info
part_of myosin II complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in stress fiber	IBA Inferred from Biological aspect of Ancestor more info
located_in stress fiber	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: myosin regulatory light polypeptide 9

Names: myosin light chain, regulatory C; myosin regulatory light chain 9

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_001418930.1 → NP_001405859.1 myosin regulatory light polypeptide 9 isoform a

Status: VALIDATED

Source sequence(s)

AL935150, BX571766

UniProtKB/Swiss-Prot

Q3TW15, Q80X77, Q9CQ19
NM_001418932.1 → NP_001405861.1 myosin regulatory light polypeptide 9 isoform b

Status: VALIDATED

Source sequence(s)

AL935150, BX571766
NM_172118.2 → NP_742116.1 myosin regulatory light polypeptide 9 isoform a

See identical proteins and their annotated locations for NP_742116.1

Status: VALIDATED

Source sequence(s)

AL935150, BX571766

Consensus CDS

CCDS50779.1

UniProtKB/Swiss-Prot

Q3TW15, Q80X77, Q9CQ19

UniProtKB/TrEMBL

Q9D6E6

Related

ENSMUSP00000085913.7, ENSMUST00000088552.7

Conserved Domains (1) summary

COG5126
Location:19 → 169

FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]