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    JMY junction mediating and regulatory protein, p53 cofactor [ Homo sapiens (human) ]

    Gene ID: 133746, updated on 2-Nov-2024

    Summary

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    Official Symbol
    JMYprovided by HGNC
    Official Full Name
    junction mediating and regulatory protein, p53 cofactorprovided by HGNC
    Primary source
    HGNC:HGNC:28916
    See related
    Ensembl:ENSG00000152409 MIM:604279; AllianceGenome:HGNC:28916
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    WHAMM2; WHDC1L3
    Summary
    Enables microtubule binding activity. Involved in cellular response to starvation. Located in autophagosome membrane; cell leading edge; and cytoplasmic vesicle. [provided by Alliance of Genome Resources, Nov 2024]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s).
    Expression
    Ubiquitous expression in endometrium (RPKM 8.1), thyroid (RPKM 7.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See JMY in Genome Data Viewer
    Location:
    5q14.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (79236131..79327211)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (79720365..79811387)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (78531954..78623034)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901011 Neighboring gene RNY3 pseudogene 1 Neighboring gene small nucleolar RNA SNORA18 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22721 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16128 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16129 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:78532408-78533044 Neighboring gene Sharpr-MPRA regulatory region 9907 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:78551199-78551987 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:78553931-78554592 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:78555253-78555912 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:78557127-78557664 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:78557665-78558202 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22723 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:78559614-78560138 Neighboring gene RPS3A pseudogene 20 Neighboring gene uncharacterized LOC102724530 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:78641964-78643163 Neighboring gene uncharacterized LOC101929201 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:78676523-78677022 Neighboring gene homer scaffold protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22724 Neighboring gene uncharacterized LOC107986426 Neighboring gene Sharpr-MPRA regulatory region 1837

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. JMY protein, a regulator of P53 and cytoplasmic actin filaments, is expressed in normal and neoplastic tissues. Adighibe O, et al. Virchows Arch, 2014 Dec. PMID 25280461
    2. Actin nucleation by WH2 domains at the autophagosome. Coutts AS, et al. Nat Commun, 2015 Jul 30. PMID 26223951, Free PMC Article
    3. Role of Junction-Mediating and Regulatory Protein in the Pathogenesis of Glucocorticoid-Induced Endothelial Cell Lesions. Zuo W, et al. Orthop Surg, 2020 Jun. PMID 32363797, Free PMC Article
    4. JMY polymorphism is related to severity of ankylosing spondylitis in Chinese Han patients. Chai W, et al. Genet Test Mol Biomarkers, 2013 Aug. PMID 23758122, Free PMC Article
    5. Evolution of the eukaryotic ARP2/3 activators of the WASP family: WASP, WAVE, WASH, and WHAMM, and the proposed new family members WAWH and WAML. Kollmar M, et al. BMC Res Notes, 2012 Feb 8. PMID 22316129, Free PMC Article

    See all (42) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The actin nucleation factors JMY and WHAMM enable a rapid Arp2/3 complex-mediated intrinsic pathway of apoptosis.
      Title: The actin nucleation factors JMY and WHAMM enable a rapid Arp2/3 complex-mediated intrinsic pathway of apoptosis.
    2. Role of Junction-Mediating and Regulatory Protein in the Pathogenesis of Glucocorticoid-Induced Endothelial Cell Lesions.
      Title: Role of Junction-Mediating and Regulatory Protein in the Pathogenesis of Glucocorticoid-Induced Endothelial Cell Lesions.
    3. LC3 and STRAP regulate actin filament assembly by JMY during autophagosome formation.
      Title: LC3 and STRAP regulate actin filament assembly by JMY during autophagosome formation.
    4. In autophagosomes, the integrity of the WH2 domains allows JMY to promote actin nucleation, which is required for efficient autophagosome formation.
      Title: Actin nucleation by WH2 domains at the autophagosome.
    5. JMY was expressed in normal tissues and heterogeneously in different tumor types, with close correlation between cytoplasmic and nuclear expression.
      Title: JMY protein, a regulator of P53 and cytoplasmic actin filaments, is expressed in normal and neoplastic tissues.
    6. JARID1A, JMY, and PTGER4 polymorphisms are related to ankylosing spondylitis in Chinese Han patients.
      Title: JARID1A, JMY, and PTGER4 polymorphisms are related to ankylosing spondylitis in Chinese Han patients: a case-control study.
    7. JMY is related to the severity of AS in Chinese Han patients.
      Title: JMY polymorphism is related to severity of ankylosing spondylitis in Chinese Han patients.
    8. actin assembly regulates nuclear import of JMY in response to DNA damage.
      Title: Actin binding to WH2 domains regulates nuclear import of the multifunctional actin regulator JMY.
    9. JMY is expressed at high levels in brain tissue, and in various cell lines JMY is predominantly cytoplasmic, with a minor fraction in the nucleus.
      Title: The actin nucleation factor JMY is a negative regulator of neuritogenesis.
    10. results establish the interplay between JMY and HIF-1alpha as a new mechanism that controls cell motility under hypoxic stress
      Title: Hypoxia-driven cell motility reflects the interplay between JMY and HIF-1α.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study of selenium concentrations.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ37870, MGC163496

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables Arp2/3 complex binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables microtubule binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription coactivator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transcription coactivator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in 'de novo' actin filament nucleation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in 'de novo' actin filament nucleation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in Arp2/3 complex-mediated actin nucleation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in Arp2/3 complex-mediated actin nucleation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in DNA repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in actin polymerization-dependent cell motility ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cellular response to starvation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in intrinsic apoptotic signaling pathway by p53 class mediator IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in autophagosome membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cell leading edge IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endomembrane system IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    junction-mediating and -regulatory protein
    Names
    WAS protein homology region 2 domain containing 1-like 3

    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.

    mRNA and Protein(s)

    1. NM_152405.5 → NP_689618.4  junction-mediating and -regulatory protein

      See identical proteins and their annotated locations for NP_689618.4

      Status: VALIDATED

      Source sequence(s)
      AC016559, AC020898, AK095189, BC130624, BM668734, CN372786, DA435238
      Consensus CDS
      CCDS4047.3
      UniProtKB/Swiss-Prot
      A1L4P5, B5MDS2, B5MDT0, Q8N9B5
      Related
      ENSP00000379441.4, ENST00000396137.5
      Conserved Domains (3) summary
      TIGR02168
      Location:446 → 720
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam15871
      Location:229 → 582
      JMY; Junction-mediating and -regulatory protein
      pfam15920
      Location:6 → 54
      WHAMM-JMY_N; N-terminal of Junction-mediating and WASP homolog-associated

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      79236131..79327211
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      79720365..79811387
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N9B5.2 GenPept UniProtKB/Swiss-Prot:Q8N9B5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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