MYORG
entrez
57462
canonical
uniprot
Q6NSJ0
canonical
ensembl
ENSG00000164976
resolver
ensp
ENSP00000297625
resolver
ensp
ENSP00000566692
resolver
ensp
ENSP00000566693
resolver
ensp
ENSP00000566694
resolver
ensp
ENSP00000566695
resolver
ensp
ENSP00000595193
resolver
ensp
ENSP00000595194
resolver
ensp
ENSP00000634385
resolver
ensp
ENSP00000634386
resolver
enst
ENST00000297625
resolver
enst
ENST00000896633
resolver
enst
ENST00000896634
resolver
enst
ENST00000896635
resolver
enst
ENST00000896636
resolver
enst
ENST00000925134
resolver
enst
ENST00000925135
resolver
enst
ENST00000964326
resolver
enst
ENST00000964327
resolver
genesymbol
MYORG
resolver
genesymbol_syn
KIAA1161
resolver
genesymbol_syn
NET37
resolver
hgnc
HGNC:19918
resolver
uniprot
Q5T587
resolver
uniprot
Q5T588
resolver
uniprot
Q9ULQ9
resolver
uniprot_entry
MYORG_HUMAN
resolver
uniprot_sec
Q5T587
resolver
uniprot_sec
Q5T588
resolver
uniprot_sec
Q9ULQ9
resolver
amino_acid_sequence
MLQNPQEKSQAYPRRRRPGCYAYRQNPEAIAAAAMYTFLPDNFSPAKPKPSKDLKPLLGSAVLGLLLVLAAVVAWCYYSVSLRKAERLRAELLDLKAGGFSIRNQKGEQVFRLAFRSGALDLDSCSRDGALLGCSLTADGLPLHFFIQTVRPKDTVMCYRVRWEEAAPGRAVEHAMFLGDAAAHWYGGAEMRTQHWPIRLDGQQEPQPFVTSDVYSSDAAFGGILERYWLSSRAAAIKVNDSVPFHLGWNSTERSLRLQARYHDTPYKPPAGRAAAPELSYRVCVGSDVTSIHKYMVRRYFNKPSRVPAPEAFRDPIWSTWALYGRAVDQDKVLRFAQQIRLHHFNSSHLEIDDMYTPAYGDFDFDEVKFPNASDMFRRLRDAGFRVTLWVHPFVNYNSSRFGEGVERELFVREPTGRLPALVRWWNGIGAVLDFTHPKARDWFQGHLRRLRSRYSVASFKFDAGEVSYLPRDFSTYRPLPDPSVWSRRYTEMALPFFSLAEVRVGYQSQNISCFFRLVDRDSVWGYDLGLRSLIPAVLTVSMLGYPFILPDMVGGNAVPQRTAGGDVPERELYIRWLEVAAFMPAMQFSIPPWRYDAEVVAIAQKFAALRASLVAPLLLELAGEVTDTGDPIVRPLWWIAPGDETAHRIDSQFLIGDTLLVAPVLEPGKQERDVYLPAGKWRSYKGELFDKTPVLLTDYPVDLDEIAYFTWAS
uniprot
proteins
disease_involvement
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.
uniprot
proteins
ec_number
3.2.1.22
uniprot
proteins
function
FUNCTION: Alpha-galactosidase with unusual specificity for the Gal-alpha1,4-Glc structure, whose in vivo substrate is still unknown (PubMed:36129849). Promotes myogenesis by activating AKT signaling through the maturation and secretion of IGF2 (By similarity). {ECO:0000250|UniProtKB:Q69ZQ1, ECO:0000269|PubMed:36129849}.
uniprot
proteins
mass_dalton
81087
uniprot
proteins
mutagenesis
MUTAGEN 463; /note="D->A: Does not change nuclear membrane localization. Does not rescue the myogenetic defect induced by depletion of endogenous MYORG."; /evidence="ECO:0000269|PubMed:19706595
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000269|PubMed:36129849}.
uniprot
proteins
protein_family
Glycosyl hydrolase 31 family
uniprot
proteins
pubmed
10574461
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
19706595
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
29910000
uniprot
proteins
pubmed
30460687
uniprot
proteins
pubmed
30589467
uniprot
proteins
pubmed
30656188
uniprot
proteins
pubmed
30895394
uniprot
proteins
pubmed
31009047
uniprot
proteins
pubmed
36129849
uniprot
proteins
sequence_length
714
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus membrane {ECO:0000250|UniProtKB:Q69ZQ1}; Single-pass type II membrane protein {ECO:0000250|UniProtKB:Q69ZQ1}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:29910000, ECO:0000269|PubMed:36129849}; 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}.
uniprot
proteins
transmembrane_region
TRANSMEM 57..77; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins