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    MYPN myopalladin [ Homo sapiens (human) ]

    Gene ID: 84665, updated on 3-Apr-2024

    Summary

    Official Symbol
    MYPNprovided by HGNC
    Official Full Name
    myopalladinprovided by HGNC
    Primary source
    HGNC:HGNC:23246
    See related
    Ensembl:ENSG00000138347 MIM:608517; AllianceGenome:HGNC:23246
    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; CMYP24
    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]
    Expression
    Biased expression in heart (RPKM 21.7) and prostate (RPKM 1.5) See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See MYPN in Genome Data Viewer
    Location:
    10q21.3
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (68087897..68212017)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (68956458..69080820)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (69865764..69971774)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene HECT and RLD domain containing E3 ubiquitin protein ligase 4 Neighboring gene POU class 5 homeobox 1 pseudogene 5 Neighboring gene MPRA-validated peak985 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2416 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2417 Neighboring gene uncharacterized LOC124902442 Neighboring gene uncharacterized LOC107984240 Neighboring gene RN7SK pseudogene 202 Neighboring gene Sharpr-MPRA regulatory region 5989 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16132 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16136 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16144 Neighboring gene uncharacterized LOC124902443 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16173 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16197 Neighboring gene uncharacterized LOC124902593 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2418 Neighboring gene atonal bHLH transcription factor 7

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Dilated cardiomyopathy 1KK
    MedGen: C3714995 OMIM: 615248 GeneReviews: Not available
    Compare labs
    MYPN-related myopathy
    MedGen: C4479186 OMIM: 617336 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    EBI GWAS Catalog
    Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SH3 domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables cell-cell adhesion mediator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables cytoskeletal protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables muscle alpha-actinin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in axon guidance IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in dendrite self-avoidance IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in homophilic cell adhesion via plasma membrane adhesion molecules IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sarcomere organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in I band IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in Z disc IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    colocalizes_with Z disc IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Z disc IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in axon IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    myopalladin
    Names
    sarcomeric protein myopalladin, 145 kDa (MYOP)

    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_032118.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001256267.2NP_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
      Consensus CDS
      CCDS7275.1
      UniProtKB/Swiss-Prot
      Q5VV35, Q5VV36, Q86T37, Q86TC9, Q8N3L4, Q96K90, Q96KF5
      UniProtKB/TrEMBL
      A0A8J9ASZ5
      Related
      ENSP00000480757.2, ENST00000613327.5
      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_001256268.2NP_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
      UniProtKB/TrEMBL
      A0A087WX60
      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_032578.4NP_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
      Q5VV35, Q5VV36, Q86T37, Q86TC9, Q8N3L4, Q96K90, Q96KF5
      UniProtKB/TrEMBL
      A0A8J9ASZ5
      Related
      ENSP00000351790.5, ENST00000358913.10
      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_045662.4 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, AL512429
      Related
      ENST00000354393.7
    2. NR_045663.4 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, AC024258, AL512429
      Related
      ENST00000688812.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      68087897..68212017
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047425879.1XP_047281835.1  myopalladin isoform X3

    2. XM_017016834.3XP_016872323.1  myopalladin isoform X2

      UniProtKB/Swiss-Prot
      Q5VV35, Q5VV36, Q86T37, Q86TC9, Q8N3L4, Q96K90, Q96KF5
      UniProtKB/TrEMBL
      A0A8J9ASZ5
      Related
      ENSP00000441668.3, ENST00000540630.6
      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
    3. XM_047425877.1XP_047281833.1  myopalladin isoform X3

    4. XM_047425876.1XP_047281832.1  myopalladin isoform X1

    5. XM_017016833.2XP_016872322.1  myopalladin isoform X1

      UniProtKB/TrEMBL
      A0A8J9ASZ5
    6. XM_047425878.1XP_047281834.1  myopalladin isoform X3

    7. XM_047425880.1XP_047281836.1  myopalladin isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      68956458..69080820
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366984.1XP_054222959.1  myopalladin isoform X3

    2. XM_054366982.1XP_054222957.1  myopalladin isoform X3

    3. XM_054366981.1XP_054222956.1  myopalladin isoform X2

    4. XM_054366980.1XP_054222955.1  myopalladin isoform X1

    5. XM_054366983.1XP_054222958.1  myopalladin isoform X3

    6. XM_054366985.1XP_054222960.1  myopalladin isoform X4