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MYPN myopalladin [ Homo sapiens (human) ]

Gene ID: 84665, updated on 8-Oct-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 details...Open this link in a new tab

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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