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MYPN myopalladin [ Homo sapiens (human) ]

Gene ID: 84665, updated on 2-Nov-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; CMYO24; 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
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Genomic context

See MYPN in Genome Data Viewer
Location:
10q21.3
Exon count:
28
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (68087897..68212017)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (68956458..69080820)
RS_2024_09 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 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)

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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_2024_08

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