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    MYORG myogenesis regulating glycosidase [ Homo sapiens (human) ]

    Gene ID: 57462, updated on 10-Dec-2024

    Summary

    Official Symbol
    MYORGprovided by HGNC
    Official Full Name
    myogenesis regulating glycosidaseprovided by HGNC
    Primary source
    HGNC:HGNC:19918
    See related
    Ensembl:ENSG00000164976 MIM:618255; AllianceGenome:HGNC:19918
    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
    IBGC7; NET37; KIAA1161
    Summary
    Predicted to enable hydrolase activity, hydrolyzing O-glycosyl compounds. Involved in skeletal muscle fiber development. Predicted to be located in endoplasmic reticulum membrane and nuclear membrane. Implicated in basal ganglia calcification. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in duodenum (RPKM 7.6), small intestine (RPKM 7.3) and 18 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See MYORG in Genome Data Viewer
    Location:
    9p13.3
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (34366666..34376898, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (34385154..34395421, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (34366664..34376896, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene kinesin family member 24 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:34318623-34319288 Neighboring gene serpin family H member 1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28307 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28308 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:34329280-34329787 Neighboring gene nudix hydrolase 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34371826-34372326 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34372327-34372827 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34375663-34376244 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34376245-34376825 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19844 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34380811-34381416 Neighboring gene uncharacterized LOC124902144 Neighboring gene sperm microtubule inner protein 6 Neighboring gene family with sequence similarity 219 member A Neighboring gene uncharacterized LOC124902145

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    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 hydrolase activity, hydrolyzing O-glycosyl compounds IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in carbohydrate metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of insulin-like growth factor receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in skeletal muscle fiber development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in skeletal muscle fiber development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in skeletal muscle fiber development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nuclear membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    myogenesis-regulating glycosidase
    Names
    myogenesis regulating glycosidase (putative)
    NP_065753.2
    XP_011516268.1
    XP_016870419.1
    XP_054219293.1
    XP_054219294.1

    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.

    mRNA and Protein(s)

    1. NM_020702.5NP_065753.2  myogenesis-regulating glycosidase

      See identical proteins and their annotated locations for NP_065753.2

      Status: VALIDATED

      Source sequence(s)
      AB032987, AI066728, AL356494, AW008982, BC110493, CB988183
      Consensus CDS
      CCDS78391.1
      UniProtKB/Swiss-Prot
      Q5T587, Q5T588, Q6NSJ0, Q9ULQ9
      Related
      ENSP00000297625.8, ENST00000297625.8
      Conserved Domains (2) summary
      cd06592
      Location:314682
      GH31_NET37; glucosidase NET37
      pfam01055
      Location:329707
      Glyco_hydro_31; Glycosyl hydrolases family 31

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      34366666..34376898 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011517966.4XP_011516268.1  myogenesis-regulating glycosidase isoform X1

      See identical proteins and their annotated locations for XP_011516268.1

      UniProtKB/Swiss-Prot
      Q5T587, Q5T588, Q6NSJ0, Q9ULQ9
      Conserved Domains (2) summary
      cd06592
      Location:314682
      GH31_NET37; glucosidase NET37
      pfam01055
      Location:329707
      Glyco_hydro_31; Glycosyl hydrolases family 31
    2. XM_017014930.3XP_016870419.1  myogenesis-regulating glycosidase isoform X1

      UniProtKB/Swiss-Prot
      Q5T587, Q5T588, Q6NSJ0, Q9ULQ9
      Conserved Domains (2) summary
      cd06592
      Location:314682
      GH31_NET37; glucosidase NET37
      pfam01055
      Location:329707
      Glyco_hydro_31; Glycosyl hydrolases family 31

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      34385154..34395421 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363319.1XP_054219294.1  myogenesis-regulating glycosidase isoform X1

    2. XM_054363318.1XP_054219293.1  myogenesis-regulating glycosidase isoform X1