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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MYOM1 Gene

protein-coding GIFtS: 55
GCID: GC18M003056

myomesin 1

(Previous names: myomesin 1 (skelemin) (185kD), myomesin 1 (skelemin) 185kDa,...)

Explore 6 diseases affiliated with
MYOM1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Myomesin 1¹ ²		Myomesin 1 (Skelemin) (185kD)¹
Myomesin 1 (Skelemin) 185kDa¹ ²		EH-Myomesin¹
Myomesin 1, 185kDa¹ ²		SKELEMIN²
Myomesin Family Member 1² ³		Myomesin (M-Protein) 1 (190kD)²
190 KDa Connectin-Associated Protein² ³		Myomesin-1¹
190 KDa Titin-Associated Protein² ³

External Ids:	HGNC: 7613¹	Entrez Gene: 8736²	Ensembl: ENSG00000101605⁷	OMIM: 603508⁵	UniProtKB: P52179³

Export aliases for MYOM1 gene to outside databases

Previous GC identifers: GC18M003315 GC18M003054

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MYOM1:

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)

UniProtKB/Swiss-Prot: MYOM1_HUMAN, P52179

Function: Major component of the vertebrate myofibrillar M band. Binds myosin, titin, and light meromyosin. This

binding is dose dependent

Gene Wiki entry for MYOM1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000018.9 NC_018929.1 NT_010859.14

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MYOM1 gene promoter:
Max1 AML1a p300 Lmo2 GATA-1 C/EBPalpha YY1 Evi-1 FOXO4
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: MYOM1 promoter sequence

Search SABiosciences Chromatin IP Primers for MYOM1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MYOM1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18p11.31 Ensembl cytogenetic band: 18p11.31 HGNC cytogenetic band: 18p11.31

MYOM1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYOM1 gene location

GeneLoc information about chromosome 18 GeneLoc Exon Structure

GeneLoc location for GC18M003056: view genomic region (about GC identifiers)

Start:	3,066,805 bp from pter	End:	3,220,106 bp from pter
Size:	153,302 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MYOM1_HUMAN, P52179 (See protein sequence)

Recommended Name: Myomesin-1

Size: 1685 amino acids; 187627 Da

Subunit: Homodimer (By similarity). Interacts with TTN/titin (By similarity). Interacts with PNKD

Subcellular location: Cytoplasm, myofibril, sarcomere, M line (By similarity)

Sequence caution: Sequence=CAA48833.1; Type=Erroneous initiation;

4 PDB 3D structures from and Proteopedia for MYOM1:

2R15 (3D)

2Y23 (3D)

2Y25 (3D)

3RBS (3D)

Secondary accessions: Q14BD6 Q6H969 Q6ZUU0

Alternative splicing: 2 isoforms: P52179-1 P52179-2

Explore the universe of human proteins at neXtProt for MYOM1: NX_P52179

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P52179

MYOM1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_003794.3 NP_062830.1

ENSEMBL proteins:

ENSP00000348821 ENSP00000261606 ENSP00000462039 ENSP00000383413

Human Recombinant Protein Products:

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	Uscn Proteins for MYOM1

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005863	striated muscle myosin thick filament	TAS	6537951
GO:0030017	sarcomere	--	--
GO:0031430	M band	ISS	--

MYOM1 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for MYOM1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

MYOM1 for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR003598 Ig_sub2

IPR007110 Ig-like_dom

IPR003599 Ig_sub

IPR003961 Fibronectin_type3

IPR013098 Ig_I-set

Graphical View of Domain Structure for InterPro Entry P52179

ProtoNet protein and cluster: P52179

2 Blocks protein families:

IPB003598 Immunoglobulin C-2 type

IPB003962 Fibronectin type III repeat signature

UniProtKB/Swiss-Prot: MYOM1_HUMAN, P52179

Similarity: Contains 5 fibronectin type-III domains

Similarity: Contains 5 Ig-like C2-type (immunoglobulin-like) domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: MYOM1_HUMAN, P52179

Function: Major component of the vertebrate myofibrillar M band. Binds myosin, titin, and light meromyosin. This

binding is dose dependent

Genatlas biochemistry entry for MYOM1:

sarcomeric M-band protein,myomesin 1,binding the globular head of titin and the central region of light meromyosin,Ig

superfamily,potentially involved in the assembly and/or stabilization of myofibrils,expressed in adult muscle

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		hsa-miR-577 hsa-miR-4279 hsa-miR-3674 hsa-miR-3935
		SwitchGear 3'UTR luciferase reporter plasmid: MYOM1 3' UTR sequence

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYOM1

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008307	structural constituent of muscle	TAS	7505783
GO:0042803	protein homodimerization activity	ISS	--

MYOM1 for ontologies About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Striated Muscle Contraction

Striated Muscle Contraction

1.00

1 BioSystems Pathway for MYOM1

Striated Muscle Contraction

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for MYOM1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/32 Interacting proteins for MYOM1 (P52179^{1, 3} ENSP00000348821⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 32)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MYH9	P35579³, ENSP00000216181⁴	I2D: score=2 STRING: ENSP00000216181
TTN	Q8WZ42³	I2D: score=1
DYSF	O75923¹	EBI-5353249,EBI-2799016
MYBPC3	ENSP00000382193⁴	STRING: ENSP00000382193
MYH1	ENSP00000226207⁴	STRING: ENSP00000226207

About this table

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006936	muscle contraction	IEA	--

MYOM1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MYOM1
Search CenterWatch for drugs/clinical trials and news about MYOM1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for MYOM1 gene (2 alternative transcripts):

NM_003803.3 NM_019856.1

Unigene Cluster for MYOM1:

Myomesin 1

Hs.464469 [show with all ESTs]

Unigene Representative Sequence: NM_003803

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000356443(uc002klp.3 uc002klq.3) ENST00000261606 ENST00000581804

ENST00000581075 ENST00000582016 ENST00000577294 ENST00000400569

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		4 QIAGEN miScript miRNA Assays for microRNAs that regulate MYOM1:
		hsa-miR-577 hsa-miR-4279 hsa-miR-3674 hsa-miR-3935
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Additional cDNA sequence:

AF185573.1 AJ621424.1 AK125322.1 AK302444.1 BC116183.1 BC116184.1 X69090.1

8 DOTS entries:

DT.413926 DT.91704330 DT.97778075 DT.100016864 DT.101972106 DT.121084589 DT.121084601 DT.40132532

24/65 AceView cDNA sequences (see all 65):

BQ897781 BM698598 BM713338 NM_003803 F16628 Z36268 BM674683 AW195583

BU736236 AF185573 AA668129 CA398076 BM993795 BX485609 CN479326 AJ621424

CA392551 AU135612 AI221348 BU579815 AU137224 F31186 BG716893 BF056191

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

MYOM1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCCGTGTCTC

About this image

MYOM1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Heart

Primitive Heart Tube

Primitive Heart Tube Cells

Myocardium

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Cardiomyocyte-like progenitor cells (Derivation of cardio...)

See MYOM1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MYOM1

SOURCE GeneReport for Unigene cluster: Hs.464469

SABiosciences Custom PCR Arrays for MYOM1

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYOM1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for MYOM1 gene from 5/15 species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	MYOM1⁶	myomesin	72(a)	1 ↔ 1	2(104021867-104095455)
lizard (Anolis carolinensis)	Reptilia	MYOM1⁶	--	72(a)	1 ↔ 1	4(42504860-42590881)
African clawed frog (Xenopus laevis)	Amphibia	Xl.12595²	Xenopus laevis transcribed sequence with moderate similarity to protein spP52179 (H.sapiens) MYM1_HUMAN Myomesin 1 (190 kDa titin-associated protein) (190 kDa connectin-associated protein) less	74.84(n)		BJ071009.1
zebrafish (Danio rerio)	Actinopterygii	CU607104.2⁶ myom1a⁶	myomesin 1a (skelemin)	59(a) 56(a)	1 ↔ many 1 ↔ many	7(74360032-74419118) 2(30631020-30674745)
worm (Caenorhabditis elegans)	Secernentea	ttn-1⁶	TiTiN family member (ttn-1)	1(a)	1 → many	V(6120892-6202609)

ENSEMBL Gene Tree for MYOM1 (if available)
TreeFam Gene Tree for MYOM1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for MYOM1 gene

MYBPH² IGSF22² IGFN1² MYBPC2² MYBPC1² MYBPC3² MYBPHL² MYOM3²

MYOM2²

3 SIMAP similar genes for MYOM1 using alignment to 4 protein entries: MYOM1_HUMAN (see all proteins):

MYLK MYOM2 MYOM3

MYOM1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 18 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs13381298^1,2	C,	--	3027581(+)	`GCTGGG/CGTTGG`	2	--	ds500¹		2		CSA WA	120
rs72858605^1,2	C,	--	3027662(+)	`ATTTCC/AACAGC`	2	--	ds500¹		2		NA	122
rs116910746^1,2	C,F,	--	3028286(+)	`GCTATG/AAATGG`	2	--	ut3¹		1		EA	120
rs79987844^1,2	C,F,	--	3028301(+)	`TTCTTA/CACACA`	2	--	ut3¹		1		WA	118
rs115041362^1,2	C,F,	--	3028362(+)	`TTTATA/GTGAGT`	2	--	ut3¹		1		WA	118
rs113824052^1,2		--	3029018(+)	`CCTTTG/ATATGC`	2	--	int¹		1		CSA	1
rs112851581^1,2		--	3029072(+)	`GTTTAC/TGTCTA`	2	--	int¹		1		CSA	1
rs75356458^1,2		--	3029351(+)	`GTATTC/TCTAAA`	2	--	int¹		0	--	--	--	--
rs75748835^1,2		--	3030330(+)	`TTTTTC/TCCCAG`	2	--	int¹		1		CSA	1
rs56096755^1,2	C,	--	3030562(+)	`CTTCAC/TATTTT`	2	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for MYOM1 (3066805 - 3220106 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for MYOM1: --
Human Gene Mutation Database (HGMD): MYOM1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MYOM1

DNA2.0 Custom Variant and Variant Library Synthesis for MYOM1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

MYOM1 for disorders           About GeneDecksing

OMIM gene information: 603508    OMIM disorders: --

6 diseases for MYOM1:    About MalaCards

myotonic dystrophy type 1 myopia-2 myotonic dystrophy blepharospasm

myopia cardiomyopathy

Human Genome Epidemiology (HuGE) Navigator: MYOM1 (1 document)

Export disorders for MYOM1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for MYOM1 gene, integrated from 9 sources (see all 32):
(articles sorted by number of sources associating them with MYOM1)

Utopia: connect your pdf to the dynamic
world of online information

Assignment of the human gene for the sarcomeric M-band protein myomesin (MYOM1) to 18p11.31-p11.32. (PubMed id 9806852)^{1, 3, 9} Speel E.J....Hopman A.H. (1998)
The globular head domain of titin extends into the center of the sarcomeric M band. cDNA cloning, epitope mapping and immunoelectron microscopy of two titin-associated proteins. (PubMed id 7505783)^{1, 2} Vinkemeier U.... Fuerst D.O. (1993)
Myomesin is a molecular spring with adaptable elasticity. (PubMed id 15890201)^{1, 9} Schoenauer R....Agarkova I. (2005)
Characterization of MR-1, a novel myofibrillogenesis regulator in human muscle. (PubMed id 15188056)^{2, 9} Li T.-B....Gong L.-M. (2004)
Superhelical architecture of the myosin filament-linki ng protein myomesin with unusual elastic properties. (PubMed id 22347812)¹ Pinotsis N....Wilmanns M. (2012)
EH-myomesin splice isoform is a novel marker for dila ted cardiomyopathy. (PubMed id 21069531)¹ Schoenauer R....Agarkova I. (2011)
Alternative splicing of myomesin 1 gene is aberrantly regulated in myotonic dystrophy type 1. (PubMed id 21794030)¹ Koebis M....Ishiura S. (2011)
A myomesin mutation associated with hypertrophic card iomyopathy deteriorates dimerisation properties. (PubMed id 21256114)¹ Siegert R....Ozcelik C. (2011)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)
DNA sequence and analysis of human chromosome 18. (PubMed id 16177791)² Nusbaum C.... Lander E.S. (2005)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 8736	HGNC: 7613	AceView: MYOM1	Ensembl:ENSG00000101605	euGenes: HUgn8736
ECgene: MYOM1	H-InvDB: MYOM1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for MYOM1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for MYOM1	Genetics and Cytogenetics in Oncology and Haematology

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Patent Information for MYOM1 gene:
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