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    MYOM1 myomesin 1 [ Homo sapiens (human) ]

    Gene ID: 8736, updated on 9-Dec-2024

    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
    NEW
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    Genomic context

    See MYOM1 in Genome Data Viewer
    Location:
    18p11.31
    Exon count:
    40
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (3066807..3247376, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (3222339..3405523, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (3066805..3219966, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene lipin 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13033 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13034 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13035 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:2998944-2999866 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:3003878-3004395 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9251 Neighboring gene small nuclear ribonucleoprotein polypeptide C pseudogene 4 Neighboring gene small nucleolar RNA SNORA70 Neighboring gene Sharpr-MPRA regulatory region 4192 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:3051522-3052022 Neighboring gene Sharpr-MPRA regulatory region 10665 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13036 Neighboring gene RNA, U7 small nuclear 25 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13037 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13038 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13039 Neighboring gene Sharpr-MPRA regulatory region 2253 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13040 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9252 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13041 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13042 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9253 Neighboring gene MYL12A and MYL12B antisense RNA 1 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 Functions

    What'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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC134946, MGC134947

    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 
    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

    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)

    NEW Try the new Transcript table

    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_003803.4NP_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: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_019856.2NP_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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      3066807..3247376 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047437910.1XP_047293866.1  myomesin-1 isoform X3

      UniProtKB/Swiss-Prot
      P52179, Q14BD6, Q6H969, Q6ZUU0
    2. XM_047437911.1XP_047293867.1  myomesin-1 isoform X4

    3. XM_017026062.2XP_016881551.2  myomesin-1 isoform X2

    4. XM_047437909.1XP_047293865.1  myomesin-1 isoform X1

    RNA

    1. XR_935071.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      3222339..3405523 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319308.1XP_054175283.1  myomesin-1 isoform X3

      UniProtKB/Swiss-Prot
      P52179, Q14BD6, Q6H969, Q6ZUU0
    2. XM_054319309.1XP_054175284.1  myomesin-1 isoform X4

    3. XM_054319307.1XP_054175282.1  myomesin-1 isoform X2

    4. XM_054319306.1XP_054175281.1  myomesin-1 isoform X1

    RNA

    1. XR_008485031.1 RNA Sequence