MYL6B myosin light chain 6B [Homo sapiens (human)] - Gene

Summary

Official Symbol: MYL6Bprovided by HGNC
Official Full Name: myosin light chain 6Bprovided by HGNC
Primary source: HGNC:HGNC:29823
See related: Ensembl:ENSG00000196465 MIM:609930; AllianceGenome:HGNC:29823
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: MLC1SA
Summary: Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain expressed in both slow-twitch skeletal muscle and in nonmuscle tissue. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]
Expression: Broad expression in testis (RPKM 60.9), prostate (RPKM 37.4) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (56152587..56157982)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (56120192..56125594)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (56546371..56551766)

Chromosome 12 - NC_000012.12 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: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

our results demonstrate that MYL6B is a putative tumor driver gene in HCC which could promote the degradation of p53 by enhancing its' MDM2-mediated ubiquitination.
Title: MYL6B, a myosin light chain, promotes MDM2-mediated p53 degradation and drives HCC development.
Only the first IQ motif of IQGAP1 interacts with MYL6B. The first and second IQ motifs of IQGAP1 interact with S100B in the presence of calcium ions.
Title: IQ motif selectivity in human IQGAP1: binding of myosin essential light chain and S100B.

Submit: New GeneRIF Correction

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

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

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables cytoskeletal motor activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of muscle	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of muscle	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in muscle contraction	TAS Traceable Author Statement more info	PubMed
involved_in muscle filament sliding	TAS Traceable Author Statement more info	PubMed
involved_in skeletal muscle tissue development	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
part_of muscle myosin complex	TAS Traceable Author Statement more info	PubMed
part_of myosin II complex	IBA Inferred from Biological aspect of Ancestor more info
part_of myosin complex	TAS Traceable Author Statement more info	PubMed
part_of unconventional myosin complex	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: myosin light chain 6B

Names: myosin alkali light chain 1 slow a; myosin light chain 1 slow a; myosin, light chain 6B, alkali, smooth muscle and non-muscle; myosin, light polypeptide 6B, alkali, smooth muscle and non-muscle; smooth muscle and non-muscle myosin alkali light chain 6B; smooth muscle and nonmuscle myosin light chain alkali 6B

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_001199629.2 → NP_001186558.1 myosin light chain 6B

See identical proteins and their annotated locations for NP_001186558.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.

Source sequence(s)

AI349553, BC014400

Consensus CDS

CCDS8905.1

UniProtKB/Swiss-Prot

P14649

UniProtKB/TrEMBL

A0A8Q3SIC5

Related

ENSP00000446643.1, ENST00000550443.5

Conserved Domains (4) summary

PTZ00184
Location:58 → 207

PTZ00184; calmodulin; Provisional

smart00054
Location:68 → 96

EFh; EF-hand, calcium binding motif

cd00051
Location:150 → 205

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cl08302
Location:68 → 132

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
NM_002475.5 → NP_002466.1 myosin light chain 6B

See identical proteins and their annotated locations for NP_002466.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.

Source sequence(s)

AC034102, AI349553, BC014400

Consensus CDS

CCDS8905.1

UniProtKB/Swiss-Prot

P14649

UniProtKB/TrEMBL

A0A8Q3SIC5

Related

ENSP00000512320.1, ENST00000695999.1

Conserved Domains (4) summary

PTZ00184
Location:58 → 207

PTZ00184; calmodulin; Provisional

smart00054
Location:68 → 96

EFh; EF-hand, calcium binding motif

cd00051
Location:150 → 205

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cl08302
Location:68 → 132

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...