Format

Send to:

Choose Destination

MYOM1 myomesin 1 [ Homo sapiens (human) ]

Gene ID: 8736, updated on 8-Dec-2018

Summary

Official Symbol
MYOM1provided by HGNC
Official Full Name
myomesin 1provided by HGNC
Primary source
HGNC:HGNC:7613
See related
Ensembl:ENSG00000101605 MIM:603508
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

Genomic context

See MYOM1 in Genome Data Viewer
Location:
18p11.31
Exon count:
38
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 18 NC_000018.10 (3066807..3220108, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (3066805..3220106, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene lipin 2 Neighboring gene uncharacterized LOC105371963 Neighboring gene small nuclear ribonucleoprotein polypeptide C pseudogene 4 Neighboring gene RNA, U7 small nuclear 25 pseudogene Neighboring gene uncharacterized LOC101927044 Neighboring gene uncharacterized LOC104968399 Neighboring gene myosin light chain 12A Neighboring gene myosin light chain 12B

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

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

Pathways from BioSystems

  • Striated Muscle Contraction, organism-specific biosystem (from WikiPathways)
    Striated Muscle Contraction, organism-specific biosystemMuscle contraction is the process where muscle tissue is activated by a signal from the nervous system. In case of voluntary action the nervous signals are initiated from the brain by so called actio...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC134946, MGC134947

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
kinase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
muscle alpha-actinin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
structural constituent of muscle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
cardiac muscle fiber development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cardiac muscle tissue morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cardiac myofibril assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extraocular skeletal muscle development IEA
Inferred from Electronic Annotation
more info
 
muscle contraction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of gene expression IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein secretion IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of protein secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein kinase A signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
sarcomere organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
skeletal muscle myosin thick filament assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
skeletal muscle thin filament assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
striated muscle myosin thick filament assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
M band IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
M band ISS
Inferred from Sequence or Structural Similarity
more info
 
Z disc IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sarcomere IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
striated muscle myosin thick filament TAS
Traceable Author Statement
more info
PubMed 
striated muscle thin filament IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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 variant 1
myomesin 1, 185kDa
myomesin family member 1

NCBI Reference Sequences (RefSeq)

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

  1. NG_032120.1 RefSeqGene

    Range
    5001..158302
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_426

mRNA and Protein(s)

  1. NM_003803.3NP_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
    Related
    ENSP00000348821.4, ENST00000356443.8
    Conserved Domains (6) summary
    cd00096
    Location:294366
    Ig; Immunoglobulin domain
    cd05737
    Location:15721663
    Ig_Myomesin_like_C; C-temrinal immunoglobulin (Ig)-like domain of myomesin and M-protein
    smart00408
    Location:418481
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:283369
    IG_like; Immunoglobulin like
    cd00063
    Location:638731
    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:15791663
    I-set; Immunoglobulin I-set domain
  2. NM_019856.1NP_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:294366
    Ig; Immunoglobulin domain
    cd05737
    Location:14761567
    Ig_Myomesin_like_C; C-temrinal immunoglobulin (Ig)-like domain of myomesin and M-protein
    smart00408
    Location:418481
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:283369
    IG_like; Immunoglobulin like
    cd00063
    Location:638731
    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:14831567
    I-set; Immunoglobulin I-set domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p12 Primary Assembly

    Range
    3066807..3220108 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024451281.1XP_024307049.1  myomesin-1 isoform X1

    Conserved Domains (4) summary
    smart00409
    Location:316402
    IG; Immunoglobulin
    cd00063
    Location:671764
    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 ...
    cd05737
    Location:16051696
    Ig_Myomesin_like_C; C-temrinal immunoglobulin (Ig)-like domain of myomesin and M-protein
    cl28434
    Location:450517
    I-set; Immunoglobulin I-set domain
  2. XM_017026062.1XP_016881551.1  myomesin-1 isoform X2

RNA

  1. XR_935071.2 RNA Sequence

Support Center