ID  Q6NSJ0;
PN  Myogenesis-regulating glycosidase;
GN  MYORG;
OS  9606;
SL  Nucleus Position: SL-0178;
SL  Nucleus Position: SL-0182;
SL  Comments: Nucleus membrane {ECO:0000250|UniProtKB:Q69ZQ1}; Single-pass type II membrane protein {ECO:0000250|UniProtKB:Q69ZQ1}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:29910000}; Single- pass type II membrane protein {ECO:0000250|UniProtKB:Q69ZQ1}. Note=Only a minor fraction is present in the peripheral endoplasmic reticulum. {ECO:0000250|UniProtKB:Q69ZQ1}.
DR  UNIPROT: Q6NSJ0;
DR  UNIPROT: Q5T587;
DR  UNIPROT: Q5T588;
DR  UNIPROT: Q9ULQ9;
DR  Pfam: PF01055;
DR  OMIM: 618255;
DR  OMIM: 618317;
DR  DisGeNET: 57462;
DE  Function: Putative glycosidase. Promotes myogenesis by activating AKT signaling through the maturation and secretion of IGF2. {ECO:0000250|UniProtKB:Q69ZQ1}.
DE  Disease: Basal ganglia calcification, idiopathic, 7, autosomal recessive (IBGC7) [MIM:618317]: A form of basal ganglia calcification, a genetically heterogeneous condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. {ECO:0000269|PubMed:29910000, ECO:0000269|PubMed:30460687, ECO:0000269|PubMed:30589467, ECO:0000269|PubMed:30656188, ECO:0000269|PubMed:30895394, ECO:0000269|PubMed:31009047}. Note=The disease is caused by variants affecting the gene represented in this entry.
DE  Reference Proteome: Yes;
DE  Interaction: P80370; IntAct: EBI-21555448; Score: 0.35
DE  Interaction: O95274; IntAct: EBI-21607810; Score: 0.35
DE  Interaction: Q9HAT2; IntAct: EBI-21753979; Score: 0.35
DE  Interaction: Q9Y680; IntAct: EBI-21844541; Score: 0.35
DE  Interaction: Q9NQZ7; IntAct: EBI-21844541; Score: 0.35
DE  Interaction: Q99675; IntAct: EBI-21844541; Score: 0.35
DE  Interaction: Q8WW22; IntAct: EBI-21844541; Score: 0.35
DE  Interaction: Q8TDY4; IntAct: EBI-21844541; Score: 0.35
DE  Interaction: Q8NAV1; IntAct: EBI-21844541; Score: 0.35
DE  Interaction: Q8N5K1; IntAct: EBI-21844541; Score: 0.35
DE  Interaction: P11021; IntAct: EBI-21844541; Score: 0.35
DE  Interaction: Q8N3C7; IntAct: EBI-21871349; Score: 0.35
GO  GO:0005789;
GO  GO:0016021;
GO  GO:0031965;
GO  GO:0004553;
GO  GO:0005975;
GO  GO:0043568;
GO  GO:0051897;
GO  GO:0048741;
TP  Membrane Topology: Transmembrane; Source: UniProt - Sequence Analysis {ECO:0000255};
SQ  MLQNPQEKSQAYPRRRRPGCYAYRQNPEAIAAAAMYTFLPDNFSPAKPKPSKDLKPLLGSAVLGLLLVLAAVVAWCYYSV
SQ  SLRKAERLRAELLDLKAGGFSIRNQKGEQVFRLAFRSGALDLDSCSRDGALLGCSLTADGLPLHFFIQTVRPKDTVMCYR
SQ  VRWEEAAPGRAVEHAMFLGDAAAHWYGGAEMRTQHWPIRLDGQQEPQPFVTSDVYSSDAAFGGILERYWLSSRAAAIKVN
SQ  DSVPFHLGWNSTERSLRLQARYHDTPYKPPAGRAAAPELSYRVCVGSDVTSIHKYMVRRYFNKPSRVPAPEAFRDPIWST
SQ  WALYGRAVDQDKVLRFAQQIRLHHFNSSHLEIDDMYTPAYGDFDFDEVKFPNASDMFRRLRDAGFRVTLWVHPFVNYNSS
SQ  RFGEGVERELFVREPTGRLPALVRWWNGIGAVLDFTHPKARDWFQGHLRRLRSRYSVASFKFDAGEVSYLPRDFSTYRPL
SQ  PDPSVWSRRYTEMALPFFSLAEVRVGYQSQNISCFFRLVDRDSVWGYDLGLRSLIPAVLTVSMLGYPFILPDMVGGNAVP
SQ  QRTAGGDVPERELYIRWLEVAAFMPAMQFSIPPWRYDAEVVAIAQKFAALRASLVAPLLLELAGEVTDTGDPIVRPLWWI
SQ  APGDETAHRIDSQFLIGDTLLVAPVLEPGKQERDVYLPAGKWRSYKGELFDKTPVLLTDYPVDLDEIAYFTWAS
//