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    MYG1 MYG1 exonuclease [ Homo sapiens (human) ]

    Gene ID: 60314, updated on 14-Nov-2024

    Summary

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    Official Symbol
    MYG1provided by HGNC
    Official Full Name
    MYG1 exonucleaseprovided by HGNC
    Primary source
    HGNC:HGNC:17590
    See related
    Ensembl:ENSG00000139637 MIM:611366; AllianceGenome:HGNC:17590
    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
    MYG; Gamm1; MST024; MSTP024; C12orf10
    Summary
    Predicted to enable nuclease activity. Predicted to act upstream of or within locomotory exploration behavior. Located in mitochondrion and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 46.7), ovary (RPKM 22.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MYG1 in Genome Data Viewer
    Location:
    12q13.13
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (53299695..53307177)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (53265406..53272879)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (53693479..53700961)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6407 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6408 Neighboring gene extra spindle pole bodies like 1, separase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53670028-53670528 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53670529-53671029 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53684247-53684748 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:53689034-53690233 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:53692451-53693650 Neighboring gene prefoldin subunit 5 Neighboring gene aladin WD repeat nucleoporin Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6414 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6415 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6416 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53717573-53718306 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4504 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53721571-53722293 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53722294-53723015 Neighboring gene Sp7 transcription factor

    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
    • 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. MYG1 drives glycolysis and colorectal cancer development through nuclear-mitochondrial collaboration. Chen J, et al. Nat Commun, 2024 Jun 11. PMID 38862489, Free PMC Article
    2. Correlation of increased MYG1 expression and its promoter polymorphism with disease progression and higher susceptibility in vitiligo patients. Dwivedi M, et al. J Dermatol Sci, 2013 Sep. PMID 23706493
    3. MYG1, novel melanocyte related gene, has elevated expression in vitiligo. Kingo K, et al. J Dermatol Sci, 2006 Nov. PMID 16996721
    4. Promoter polymorphism -119C/G in MYG1 (C12orf10) gene is related to vitiligo susceptibility and Arg4Gln affects mitochondrial entrance of Myg1. Philips MA, et al. BMC Med Genet, 2010 Apr 8. PMID 20377893, Free PMC Article
    5. Characterization of MYG1 gene and protein: subcellular distribution and function. Philips MA, et al. Biol Cell, 2009 Jun. PMID 19014353

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MYG1 drives glycolysis and colorectal cancer development through nuclear-mitochondrial collaboration.
      Title: MYG1 drives glycolysis and colorectal cancer development through nuclear-mitochondrial collaboration.
    2. analysis of the widely conserved dually localized protein Myg1 shows that it has a role as a 3'-5' RNA exonuclease
      Title: Myg1 exonuclease couples the nuclear and mitochondrial translational programs through RNA processing.
    3. Significant increase in MYG1 mRNA expression was observed in vitiligo patients compared to controls. The MYG1 mRNA expression was increased in patients with active and generalized vitiligo as compared to stable and localized vitiligo.
      Title: Correlation of increased MYG1 expression and its promoter polymorphism with disease progression and higher susceptibility in vitiligo patients.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Promoter polymorphism -119C/G in MYG1 (C12orf10) gene is related to vitiligo susceptibility and Arg4Gln affects mitochondrial entrance of Myg1.
    5. Both MYG1 promoter polymorphism and Arg4Gln polymorphism in the mitochondrial signal of Myg1 have an impact on the regulation of the MYG1 gene and promoter polymorphism is related with suspectibility for actively progressing vitiligo.
      Title: Promoter polymorphism -119C/G in MYG1 (C12orf10) gene is related to vitiligo susceptibility and Arg4Gln affects mitochondrial entrance of Myg1.
    6. Human and mouse MYG1 is ubiquitously expressed, with the highest level in the testis.
      Title: Characterization of MYG1 gene and protein: subcellular distribution and function.
    7. demonstrates possible role of MYG1 in vitiligo
      Title: MYG1, novel melanocyte related gene, has elevated expression in vitiligo.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3'-5'-RNA exonuclease activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in locomotory exploration behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mRNA processing IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitochondrial RNA metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in rRNA processing IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    MYG1 exonuclease
    Names
    UPF0160 protein MYG1, mitochondrial
    melanocyte proliferating gene 1
    melanocyte related

    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_021640.4 → NP_067653.4  MYG1 exonuclease precursor

      Status: VALIDATED

      Source sequence(s)
      AC073611
      Consensus CDS
      CCDS31810.1
      UniProtKB/Swiss-Prot
      Q86UA3, Q9HB07
      Related
      ENSP00000267103.5, ENST00000267103.10
      Conserved Domains (1) summary
      pfam03690
      Location:46 → 366
      UPF0160; Uncharacterized protein family (UPF0160)

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      53299695..53307177
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791795.1 Reference GRCh38.p14 PATCHES

      Range
      23454..30927
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      53265406..53272879
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HB07.4 GenPept UniProtKB/Swiss-Prot:Q9HB07

    Gene LinkOut

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

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