Mylpf myosin light chain, phosphorylatable, fast skeletal muscle [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mylpfprovided by MGI
Official Full Name: myosin light chain, phosphorylatable, fast skeletal muscleprovided by MGI
Primary source: MGI:MGI:97273
See related: Ensembl:ENSMUSG00000030672 AllianceGenome:MGI:97273
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: Mlc2; MLC-2; Myl11; 2410014J02Rik
Summary: A structural constituent of muscle. Involved in skeletal muscle tissue development. Predicted to be part of myosin complex. Is expressed in several structures, including diaphragm; embryo mesenchyme; eye; limb; and musculature. Human ortholog(s) of this gene implicated in distal arthrogryposis type 1C. Orthologous to human MYLPF (myosin light chain, phosphorylatable, fast skeletal muscle). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in mammary gland adult (RPKM 230.4), limb E14.5 (RPKM 172.5) and 5 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 F3; 7 69.39 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (126808071..126813459)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (127208848..127214288)

Chromosome 7 - NC_000073.7 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: 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?

Results indicated that sine oculis homeobox 1 (Six1) overexpression could significantly promote the expression of fast-type muscle genes Atp2a1, Srl, and Mylpf.
Title: Overexpression of Six1 gene suppresses proliferation and enhances expression of fast-type muscle genes in C2C12 myoblasts.
Data suggest that the overexpression of fast skeletal muscle myosin light chain in murine asthma may be associated with the changes of bronchial smooth muscle.
Title: The fast skeletal muscle myosin light chain is differentially expressed in smooth muscle cells of OVA-challenged mouse trachea.
Therefore, we suggest that Chr 21 gene(s) distal from the ETS2 locus reduce mouse mlc2a and PEBP expression in DS model mice and DS.
Title: Human chromosome 21q22.2-qter carries a gene(s) responsible for downregulation of mlc2a and PEBP in Down syndrome model mice.
RLC-f is necessary for skeletal muscle formation. The lack of skeletal muscle formation observed in RLC-f null mice indicates the total dependence of skeletal muscle development on the presence of RLC-f during embryogenesis.
Title: Fast skeletal muscle regulatory light chain is required for fast and slow skeletal muscle development.

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Variation

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Alleles

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

Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AA998118 (e-PCR)
- UniSTS:248614

D1Mco29 (e-PCR)
- UniSTS:240508

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables structural constituent of muscle	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in muscle contraction	ISO Inferred from Sequence Orthology more info
involved_in skeletal muscle tissue development	IBA Inferred from Biological aspect of Ancestor more info
involved_in skeletal muscle tissue development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
part_of myosin complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: myosin regulatory light chain 11

Names: MLC2F; fast skeletal myosin light chain 2; myosin light chain 11; myosin light chain 2

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_001347655.1 → NP_001334584.1 myosin regulatory light chain 11 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AC122537

Consensus CDS

CCDS85420.1

UniProtKB/TrEMBL

A0A0U1RP93

Related

ENSMUSP00000145886.2, ENSMUST00000206772.2

Conserved Domains (1) summary

COG5126
Location:1 → 134

FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
NM_016754.5 → NP_058034.1 myosin regulatory light chain 11 isoform 1

See identical proteins and their annotated locations for NP_058034.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC122537

Consensus CDS

CCDS40140.1

UniProtKB/Swiss-Prot

P97457

UniProtKB/TrEMBL

Q545G1

Related

ENSMUSP00000032910.7, ENSMUST00000032910.13

Conserved Domains (1) summary

COG5126
Location:15 → 154

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