MYOM1 myomesin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MYOM1provided by HGNC
Official Full Name: myomesin 1provided by HGNC
Primary source: HGNC:HGNC:7613
See related: Ensembl:ENSG00000101605 MIM:603508; AllianceGenome:HGNC:7613
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: SKELEMIN
Summary: The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of apparent molecular masses of 190 kD (myomesin 1) and 165 kD (myomesin 2). This protein, myomesin 1, like myomesin 2, titin, and other myofibrillar proteins contains structural modules with strong homology to either fibronectin type III (motif I) or immunoglobulin C2 (motif II) domains. Myomesin 1 and myomesin 2 each have a unique N-terminal region followed by 12 modules of motif I or motif II, in the arrangement II-II-I-I-I-I-I-II-II-II-II-II. The two proteins share 50% sequence identity in this repeat-containing region. The head structure formed by these 2 proteins on one end of the titin string extends into the center of the M band. The integrating structure of the sarcomere arises from muscle-specific members of the superfamily of immunoglobulin-like proteins. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Expression: Biased expression in heart (RPKM 154.6), prostate (RPKM 11.8) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 18p11.31

Exon count:: 40

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (3066807..3247376, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (3222339..3405523, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (3066805..3219966, complement)

Chromosome 18 - NC_000018.10 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?

Knockout of MYOM1 in human cardiomyocytes leads to myocardial atrophy via impairing calcium homeostasis.
Title: Knockout of MYOM1 in human cardiomyocytes leads to myocardial atrophy via impairing calcium homeostasis.
Crystal structure of the obscurin(-like-1):myomesin complex reveals a trans-complementation mechanism whereby an incomplete immunoglobulin-like domain assimilates an isoform-specific myomesin interdomain sequence.
Title: Binding of Myomesin to Obscurin-Like-1 at the Muscle M-Band Provides a Strategy for Isoform-Specific Mechanical Protection.
individual subfragments of titin and myomesin composed of Fn type III and Ig-like domains can activate expression of two IGF-1 splice forms in cultured myoblasts
Title: Induction of insulin-like growth factor 1 splice forms by subfragments of myofibrillar proteins.
myomesin could act as a highly elastic ribbon to maintain the overall structural organization of the sarcomeric M-band.
Title: Superhelical architecture of the myosin filament-linking protein myomesin with unusual elastic properties.
Our results suggest that the downregulation of MBNL proteins should lead to the abnormal splicing of MYOM1 exon 17a in DM1 muscle.
Title: Alternative splicing of myomesin 1 gene is aberrantly regulated in myotonic dystrophy type 1.
EH-myomesin levels were up-regulated at least 10 times in dilated cardiomyopathy patients compared to controls.
Title: EH-myomesin splice isoform is a novel marker for dilated cardiomyopathy.
This missense mutation caused significant changes of biochemical and biophysical properties of myomesin fragments indicating a role in the pathogenesis of hypertrophic cardiomyopathy .
Title: A myomesin mutation associated with hypertrophic cardiomyopathy deteriorates dimerisation properties.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Results identify muscle-type creatine kinase as a binding partner of a central portion of myomesin and the closely related M-protein.
Title: Muscle-type creatine kinase interacts with central domains of the M-band proteins myomesin and M-protein.
visco-elastic properties of myomesin might be crucial for the stability of the sarcomere
Title: Myomesin is a molecular spring with adaptable elasticity.

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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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Replication interactions

Interaction	Pubs
Knockdown of myomesin 1 (MYOM1, 185kDa) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells	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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Markers

D18S1029 (e-PCR)
- UniSTS:50778

WI-19689 (e-PCR)
- UniSTS:61309

D18S901E (e-PCR)
- UniSTS:150511

D18S502 (e-PCR)
- UniSTS:148471

D18S1370 (e-PCR)
- UniSTS:55295

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables kinase binding	IBA Inferred from Biological aspect of Ancestor more info
enables kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables structural constituent of muscle	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in extraocular skeletal muscle development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of gene expression	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein secretion	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of protein secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein kinase A signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sarcomere organization	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in M band	IBA Inferred from Biological aspect of Ancestor more info
located_in M band	ISS Inferred from Sequence or Structural Similarity more info
located_in striated muscle myosin thick filament	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: myomesin-1

Names: 190 kDa connectin-associated protein; 190 kDa titin-associated protein; EH-myomesin; myomesin (M-protein) 1 (190kD); myomesin 1 (skelemin) 185kDa; myomesin 1, 185kDa; myomesin family member 1

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.

Genomic

NG_032120.1 RefSeqGene

Range

5001..158302

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_426

mRNA and Protein(s)

NM_003803.4 → NP_003794.3 myomesin-1 isoform a

See identical proteins and their annotated locations for NP_003794.3

Status: REVIEWED

Description

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

Source sequence(s)

AI221348, AJ621424, BC116184

Consensus CDS

CCDS45824.1

UniProtKB/Swiss-Prot

P52179, Q14BD6, Q6H969, Q6ZUU0

Related

ENSP00000348821.4, ENST00000356443.9

Conserved Domains (6) summary

cd00096
Location:294 → 366

Ig; Immunoglobulin domain

cd05737
Location:1572 → 1663

Ig_Myomesin_like_C; C-temrinal immunoglobulin (Ig)-like domain of myomesin and M-protein

smart00408
Location:418 → 481

IGc2; Immunoglobulin C-2 Type

smart00410
Location:283 → 369

IG_like; Immunoglobulin like

cd00063
Location:638 → 731

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam07679
Location:1579 → 1663

I-set; Immunoglobulin I-set domain
NM_019856.2 → NP_062830.1 myomesin-1 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame segment of the coding region, compared to variant 1. It encodes a shorter isoform (b), that is missing an internal segment compared to isoform a.

Source sequence(s)

AI221348, AJ621424, BC116184

Consensus CDS

CCDS45823.1

UniProtKB/Swiss-Prot

P52179

Related

ENSP00000261606.7, ENST00000261606.11

Conserved Domains (6) summary

cd00096
Location:294 → 366

Ig; Immunoglobulin domain

cd05737
Location:1476 → 1567

Ig_Myomesin_like_C; C-temrinal immunoglobulin (Ig)-like domain of myomesin and M-protein

smart00408
Location:418 → 481

IGc2; Immunoglobulin C-2 Type

smart00410
Location:283 → 369

IG_like; Immunoglobulin like

cd00063
Location:638 → 731

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam07679
Location:1483 → 1567

I-set; Immunoglobulin I-set domain