Details for: MYORG

Gene ID: 57462

Symbol: MYORG

Ensembl ID: ENSG00000164976

Description: myogenesis regulating glycosidase (putative)

Associated with

  • Carbohydrate metabolic process
    (GO:0005975)
  • Endoplasmic reticulum membrane
    (GO:0005789)
  • Hydrolase activity, hydrolyzing o-glycosyl compounds
    (GO:0004553)
  • Nuclear membrane
    (GO:0031965)
  • Positive regulation of insulin-like growth factor receptor signaling pathway
    (GO:0043568)
  • Positive regulation of phosphatidylinositol 3-kinase/protein kinase b signal transduction
    (GO:0051897)
  • Skeletal muscle fiber development
    (GO:0048741)

Other Information

Genular Protein ID: 1282797786

Symbol: MYORG_HUMAN

Name: Uncharacterized family 31 glucosidase KIAA1161

UniProtKB Accession Codes:

Q6NSJ0 Q5T587 Q5T588 Q9ULQ9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CAZy 1 CCDS 1 CDD 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 4 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 7 Gene3D 2 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 5 PDBsum 3 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 RefSeq 3 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 10574461

Title: Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain.

PubMed ID: 10574461

DOI: 10.1093/dnares/6.5.329

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 19706595

Title: NET37, a nuclear envelope transmembrane protein with glycosidase homology, is involved in myoblast differentiation.

PubMed ID: 19706595

DOI: 10.1074/jbc.m109.034041

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 29910000

Title: Biallelic mutations in MYORG cause autosomal recessive primary familial brain calcification.

PubMed ID: 29910000

DOI: 10.1016/j.neuron.2018.05.037

PubMed ID: 30656188

Title: MYORG is associated with recessive primary familial brain calcification.

PubMed ID: 30656188

DOI: 10.1002/acn3.684

PubMed ID: 31009047

Title: Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype.

PubMed ID: 31009047

DOI: 10.1093/brain/awz095

PubMed ID: 30460687

Title: A novel mutation in MYORG causes primary familial brain calcification with central neuropathic pain.

PubMed ID: 30460687

DOI: 10.1111/cge.13467

PubMed ID: 30589467

Title: Evaluation of MYORG mutations as a novel cause of primary familial brain calcification.

PubMed ID: 30589467

DOI: 10.1002/mds.27582

PubMed ID: 30895394

Title: Primary familial brain calcification caused by a novel homozygous MYORG mutation in a consanguineous Italian family.

PubMed ID: 30895394

DOI: 10.1007/s10048-019-00571-8

Sequence Information:

  • Length: 714
  • Mass: 81087
  • Checksum: D17E4A75A81DBB46
  • Sequence:
    • MLQNPQEKSQ AYPRRRRPGC YAYRQNPEAI AAAAMYTFLP DNFSPAKPKP SKDLKPLLGS 
AVLGLLLVLA AVVAWCYYSV SLRKAERLRA ELLDLKAGGF SIRNQKGEQV FRLAFRSGAL 
DLDSCSRDGA LLGCSLTADG LPLHFFIQTV RPKDTVMCYR VRWEEAAPGR AVEHAMFLGD 
AAAHWYGGAE MRTQHWPIRL DGQQEPQPFV TSDVYSSDAA FGGILERYWL SSRAAAIKVN 
DSVPFHLGWN STERSLRLQA RYHDTPYKPP AGRAAAPELS YRVCVGSDVT SIHKYMVRRY 
FNKPSRVPAP EAFRDPIWST WALYGRAVDQ DKVLRFAQQI RLHHFNSSHL EIDDMYTPAY 
GDFDFDEVKF PNASDMFRRL RDAGFRVTLW VHPFVNYNSS RFGEGVEREL FVREPTGRLP 
ALVRWWNGIG AVLDFTHPKA RDWFQGHLRR LRSRYSVASF KFDAGEVSYL PRDFSTYRPL 
PDPSVWSRRY TEMALPFFSL AEVRVGYQSQ NISCFFRLVD RDSVWGYDLG LRSLIPAVLT 
VSMLGYPFIL PDMVGGNAVP QRTAGGDVPE RELYIRWLEV AAFMPAMQFS IPPWRYDAEV 
VAIAQKFAAL RASLVAPLLL ELAGEVTDTG DPIVRPLWWI APGDETAHRI DSQFLIGDTL 
LVAPVLEPGK QERDVYLPAG KWRSYKGELF DKTPVLLTDY PVDLDEIAYF TWAS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.