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    MYPN myopalladin [ Homo sapiens (human) ]

    Gene ID: 84665, updated on 8-Nov-2017
    Official Symbol
    MYPNprovided by HGNC
    Official Full Name
    myopalladinprovided by HGNC
    Primary source
    HGNC:HGNC:23246
    See related
    Ensembl:ENSG00000138347 MIM:608517; Vega:OTTHUMG00000018344
    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
    MYOP; RCM4; CMH22; NEM11; CMD1DD
    Summary
    Striated muscle in vertebrates comprises large proteins which must be organized properly to contract efficiently. Z-lines in striated muscle are a sign of this organization, representing the ends of actin thin filaments, titin, nebulin or nebulette and accessory proteins required for structure and function. This gene encodes a protein which interacts with nebulin in skeletal muscle or nebulette in cardiac muscle and alpha-actinin. In addition, this gene product can interact with a protein with the I-band indicating it has a regulatory as well as structural function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]
    Orthologs
    Location:
    10q21.3
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 10 NC_000010.11 (68087908..68212017)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (69865874..69971774)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene HECT and RLD domain containing E3 ubiquitin protein ligase 4 Neighboring gene RNA, 7SL, cytoplasmic 220, pseudogene Neighboring gene POU class 5 homeobox 1 pseudogene 5 Neighboring gene uncharacterized LOC107984240 Neighboring gene RNA, 7SK small nuclear pseudogene 202 Neighboring gene uncharacterized LOC107984241 Neighboring gene atonal bHLH transcription factor 7

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Dilated cardiomyopathy 1KK
    MedGen: C3714995 OMIM: 615248 GeneReviews: Not available
    Compare labs
    Nemaline myopathy 11, autosomal recessive
    MedGen: CN240509 OMIM: 617336 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    NHGRI GWA Catalog
    Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.
    NHGRI GWA Catalog
    • Integrin-mediated Cell Adhesion, organism-specific biosystem (from WikiPathways)
      Integrin-mediated Cell Adhesion, organism-specific biosystemIntegrins are receptors that mediate attachment between a cell and the tissues surrounding it, which may be other cells or the extracellular matrix (ECM). They also play a role in cell signaling and ...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    SH3 domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cytoskeletal protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    muscle alpha-actinin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cardiac muscle fiber development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    sarcomere organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    I band IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Z disc IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with Z disc IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Preferred Names
    myopalladin
    Names
    sarcomeric protein myopalladin, 145 kDa (MYOP)

    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_032118.1 RefSeqGene

      Range
      5001..110901
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_410

    mRNA and Protein(s)

    1. NM_001256267.1NP_001243196.1  myopalladin isoform a

      See identical proteins and their annotated locations for NP_001243196.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Both variants 1 and 4 encode isoform a.
      Source sequence(s)
      AC016395, AC024258, AL512429, BQ009261, BX647640, DW443964
      Consensus CDS
      CCDS7275.1
      UniProtKB/Swiss-Prot
      Q86TC9
      Related
      ENSP00000441668.2, ENST00000540630.5
      Conserved Domains (3) summary
      cd00096
      Location:9621031
      Ig; Immunoglobulin domain
      pfam07679
      Location:269355
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:11891263
      Ig; Immunoglobulin domain
    2. NM_001256268.1NP_001243197.1  myopalladin isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains four additional exons in the 5' region and it thus differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is shorter than isoform a.
      Source sequence(s)
      AC016395, AC024258, AL512429, BC144333, BQ009261, BX648564
      Consensus CDS
      CCDS73142.1
      UniProtKB/TrEMBL
      A0A087WX60
      Related
      ENSP00000480757.1, ENST00000613327.4
      Conserved Domains (3) summary
      cd00096
      Location:668737
      Ig; Immunoglobulin domain
      pfam07679
      Location:779869
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:895969
      Ig; Immunoglobulin domain
    3. NM_032578.3NP_115967.2  myopalladin isoform a

      See identical proteins and their annotated locations for NP_115967.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a). Both variants 1 and 4 encode isoform a.
      Source sequence(s)
      AC016395, AF328296, AL832002, BQ009261
      Consensus CDS
      CCDS7275.1
      UniProtKB/Swiss-Prot
      Q86TC9
      Related
      ENSP00000351790.5, OTTHUMP00000019694, ENST00000358913.9, OTTHUMT00000048307
      Conserved Domains (3) summary
      cd00096
      Location:9621031
      Ig; Immunoglobulin domain
      pfam07679
      Location:269355
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:11891263
      Ig; Immunoglobulin domain

    RNA

    1. NR_045662.3 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses alternate exon structure in the 5' region, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF. Translation of the upstream ORF renders the transcript a candidate for nonsense-mediated decay (NMD).
      Source sequence(s)
      AC016395, AC024258, AL832379, BQ009261, DW443964
      Related
      ENST00000354393.6, OTTHUMT00000048308
    2. NR_045663.3 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two alternate exons in the central region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC016395, BC144334, BQ009261, BX648564

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p7 Primary Assembly

      Range
      68087908..68212017
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017016834.1XP_016872323.1  myopalladin isoform X2

      UniProtKB/Swiss-Prot
      Q86TC9
      Conserved Domains (3) summary
      cd00096
      Location:9621031
      Ig; Immunoglobulin domain
      pfam07679
      Location:269355
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:11891263
      Ig; Immunoglobulin domain
    2. XM_017016833.1XP_016872322.1  myopalladin isoform X1

    Alternate CHM1_1.1

    Genomic

    1. NC_018921.2 Alternate CHM1_1.1

      Range
      70147622..70253538
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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