MYL9 myosin light chain 9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MYL9provided by HGNC
Official Full Name: myosin light chain 9provided by HGNC
Primary source: HGNC:HGNC:15754
See related: Ensembl:ENSG00000101335 MIM:609905; AllianceGenome:HGNC:15754
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: LC20; MLC2; MRLC1; MYRL2; MLC-2C; MMIHS4
Summary: Myosin, a structural component of muscle, consists of two heavy chains and four light chains. The protein encoded by this gene is a myosin light chain that may regulate muscle contraction by modulating the ATPase activity of myosin heads. The encoded protein binds calcium and is activated by myosin light chain kinase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression: Broad expression in prostate (RPKM 922.2), urinary bladder (RPKM 715.8) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q11.23

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (36541519..36551447)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (38265393..38275321)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (35169922..35179850)

Chromosome 20 - NC_000020.11 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The interplay between alterations in esophageal microbiota associated with Th17 immune response and impaired LC20 phosphorylation in achalasia.
Title: The interplay between alterations in esophageal microbiota associated with Th17 immune response and impaired LC20 phosphorylation in achalasia.
LAMB3 Promotes Myofibrogenesis and Cytoskeletal Reorganization in Endometrial Stromal Cells via the RhoA/ROCK1/MYL9 Pathway.
Title: LAMB3 Promotes Myofibrogenesis and Cytoskeletal Reorganization in Endometrial Stromal Cells via the RhoA/ROCK1/MYL9 Pathway.
MYL9 expressed in cancer-associated fibroblasts regulate the immune microenvironment of colorectal cancer and promotes tumor progression in an autocrine manner.
Title: MYL9 expressed in cancer-associated fibroblasts regulate the immune microenvironment of colorectal cancer and promotes tumor progression in an autocrine manner.
MYL9 promotes squamous cervical cancer migration and invasion by enhancing aerobic glycolysis.
Title: MYL9 promotes squamous cervical cancer migration and invasion by enhancing aerobic glycolysis.
Increased Myosin light chain 9 expression during Kawasaki disease vasculitis.
Title: Increased Myosin light chain 9 expression during Kawasaki disease vasculitis.
Clinicopathological significance of MYL9 expression in pancreatic ductal adenocarcinoma.
Title: Clinicopathological significance of MYL9 expression in pancreatic ductal adenocarcinoma.
Elevated Myl9 reflects the Myl9-containing microthrombi in SARS-CoV-2-induced lung exudative vasculitis and predicts COVID-19 severity.
Title: Elevated Myl9 reflects the Myl9-containing microthrombi in SARS-CoV-2-induced lung exudative vasculitis and predicts COVID-19 severity.
The landscape of prognostic and immunological role of myosin light chain 9 (MYL9) in human tumors.
Title: The landscape of prognostic and immunological role of myosin light chain 9 (MYL9) in human tumors.
CD4+ T cells in inflammatory diseases: pathogenic T-helper cells and the CD69-Myl9 system.
Title: CD4+ T cells in inflammatory diseases: pathogenic T-helper cells and the CD69-Myl9 system.
Myosin light chain 9 promotes the proliferation, invasion, migration and angiogenesis of colorectal cancer cells by binding to Yes-associated protein 1 and regulating Hippo signaling.
Title: Myosin light chain 9 promotes the proliferation, invasion, migration and angiogenesis of colorectal cancer cells by binding to Yes-associated protein 1 and regulating Hippo signaling.

Submit: New GeneRIF Correction See all GeneRIFs (26)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Megacystis-microcolon-intestinal hypoperistalsis syndrome 4 MedGen: C5543519 OMIM: 619365 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Treatment of human brain endothelial cells with Tat markedly elevates GTP-RhoA levels and the potential downstream effectors, such as myosin phosphatase target subunit 1 and myosin light chain	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH91464 (e-PCR)
- UniSTS:84785

RH75828 (e-PCR)
- UniSTS:83669

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables myosin heavy chain binding	IBA Inferred from Biological aspect of Ancestor more info
enables myosin heavy chain binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
enables structural constituent of muscle	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in myofibril assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in platelet aggregation	HMP more info	PubMed
involved_in regulation of muscle contraction	TAS Traceable Author Statement more info	PubMed
involved_in stress fiber assembly	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Z disc	IEA Inferred from Electronic Annotation more info
located_in cell cortex	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
part_of muscle myosin complex	TAS Traceable Author Statement more info	PubMed
is_active_in myofibril	IBA Inferred from Biological aspect of Ancestor more info
part_of myosin II complex	IBA Inferred from Biological aspect of Ancestor more info
is_active_in stress fiber	IBA Inferred from Biological aspect of Ancestor more info
is_active_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: 20 kDa myosin light chain; epididymis secretory sperm binding protein; myosin RLC; myosin regulatory light chain 1; myosin regulatory light chain 9; myosin regulatory light chain MRLC1; myosin, light chain 9, regulatory; myosin, light polypeptide 9, regulatory

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_006097.5 → NP_006088.2 myosin regulatory light polypeptide 9 isoform a

See identical proteins and their annotated locations for NP_006088.2

Status: REVIEWED

Description

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

Source sequence(s)

AK130879, AL050318, BC002648

Consensus CDS

CCDS13276.1

UniProtKB/Swiss-Prot

E1P5T6, P24844, Q9BQL9, Q9BUF9, Q9H136

UniProtKB/TrEMBL

A0A384NY64, Q6IBG1

Related

ENSP00000279022.2, ENST00000279022.7

Conserved Domains (1) summary

COG5126
Location:19 → 169

FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
NM_181526.3 → NP_852667.1 myosin regulatory light polypeptide 9 isoform b

See identical proteins and their annotated locations for NP_852667.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1, resulting in a shorter isoform (b) compared to isoform a.

Source sequence(s)

AL050318, AL697699, BC002648

Consensus CDS

CCDS13277.1

UniProtKB/Swiss-Prot

P24844

Related

ENSP00000217313.2, ENST00000346786.2

Conserved Domains (1) summary

COG5126
Location:19 → 115

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