MYRF
entrez
745
canonical
uniprot
Q9Y2G1
canonical
ensembl
ENSG00000124920
resolver
ensp
ENSP00000265460
resolver
ensp
ENSP00000278836
resolver
ensp
ENSP00000502795
resolver
ensp
ENSP00000526857
resolver
ensp
ENSP00000526858
resolver
ensp
ENSP00000526859
resolver
ensp
ENSP00000526860
resolver
ensp
ENSP00000526861
resolver
ensp
ENSP00000526862
resolver
ensp
ENSP00000526863
resolver
ensp
ENSP00000526865
resolver
ensp
ENSP00000526868
resolver
ensp
ENSP00000526870
resolver
ensp
ENSP00000526871
resolver
genesymbol
MYRF
resolver
genesymbol_syn
C11orf9
resolver
genesymbol_syn
KIAA0954
resolver
genesymbol_syn
MRF
resolver
hgnc
HGNC:1181
resolver
uniprot
O43582
resolver
uniprot
Q9P1Q6
resolver
uniprot_entry
MYRF_HUMAN
resolver
uniprot_sec
O43582
resolver
uniprot_sec
Q9P1Q6
resolver
amino_acid_sequence
MEVVDETEALQRFFEGHDINGALEPSNIDTSILEEYISKEDASDLCFPDISAPASSASYSHGQPAMPGSSGVHHLSPPGGGPSPGRHGPLPPPGYGTPLNCNNNNGMGAAPKPFPGGTGPPIKAEPKAPYAPGTLPDSPPDSGSEAYSPQQVNEPHLLRTITPETLCHVGVPSRLEHPPPPPAHLPGPPPPPPPPPHYPVLQRDLYMKAEPPIPHYAAMGQGLVPTDLHHTQQSQMLHQLLQQHGAELPTHPSKKRKHSESPPSTLNAQMLNGMIKQEPGTVTALPLHPTRAPSPPWPPQGPLSPGPGSLPLSIARVQTPPWHPPGAPSPGLLQDSDSLSGSYLDPNYQSIKWQPHQQNKWATLYDANYKELPMLTYRVDADKGFNFSVGDDAFVCQKKNHFQVTVYIGMLGEPKYVKTPEGLKPLDCFYLKLHGVKLEALNQSINIEQSQSDRSKRPFNPVTVNLPPEQVTKVTVGRLHFSETTANNMRKKGKPNPDQRYFMLVVALQAHAQNQNYTLAAQISERIIVRASNPGQFESDSDVLWQRAQVPDTVFHHGRVGINTDRPDEALVVHGNVKVMGSLMHPSDLRAKEHVQEVDTTEQLKRISRMRLVHYRYKPEFAASAGIEATAPETGVIAQEVKEILPEAVKDTGDMVFANGKTIENFLVVNKERIFMENVGAVKELCKLTDNLETRIDELERWSHKLAKLRRLDSLKSTGSSGAFSHAGSQFSRAGSVPHKKRPPKVASKSSSVVPDQACISQRFLQGTIIALVVVMAFSVVSMSTLYVLSLRTEEDLVDTDGSFAVSTSCLLALLRPQPPGGSEALCPWSSQSFGTTQLRQSPLTTGLPGIQPSLLLVTTSLTSSAPGSAVRTLDMCSSHPCPVICCSSPTTNPTTGPSLGPSFNPGHVLSPSPSPSTNRSGPSQMALLPVTNIRAKSWGLSVNGIGHSKHHKSLEPLASPAVPFPGGQGKAKNSPSLGFHGRARRGALQSSVGPAEPTWAQGQSASLLAEPVPSLTSIQVLENSMSITSQYCAPGDACRPGNFTYHIPVSSGTPLHLSLTLQMNSSSPVSVVLCSLRSKEEPCEEGSLPQSLHTHQDTQGTSHRWPITILSFREFTYHFRVALLGQANCSSEALAQPATDYHFHFYRLCD
uniprot
proteins
disease_involvement
DISEASE: Encephalitis/encephalopathy, mild, with reversible myelin vacuolization (MMERV) [MIM:618113]: An autosomal dominant disease characterized by episodes of acute encephalitis associated with impaired consciousness, delirious behavior, seizures, and reversible splenial lesions observed on diffusion magnetic resonance imaging. Most patients completely recover and there are no neurologic sequelae. MMERV occurs in children and is frequently associated with a trigger, such as a febrile illness. {ECO:0000269|PubMed:29265453}. Note=The disease may be caused by variants affecting the gene represented in this entry.; DISEASE: Cardiac-urogenital syndrome (CUGS) [MIM:618280]: An autosomal dominant syndrome characterized by partial anomalous pulmonary venous return, tracheal anomalies, pulmonary hypoplasia, congenital diaphragmatic hernia, thyroid fibrosis, thymic involution, cleft spleen, penoscrotal hypospadias, and cryptorchidism. {ECO:0000269|PubMed:29446546, ECO:0000269|PubMed:30070761, ECO:0000269|PubMed:30532227}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Nanophthalmos 1 (NNO1) [MIM:600165]: A form of nanophthalmos, a disorder of eye development characterized by extreme hyperopia and small functional eyes. The cornea and lens are normal in size and shape. Hyperopia occurs because insufficient growth along the visual axis places these lensing components too close to the retina. Nanophthalmic eyes show considerable thickening of both the choroidal vascular bed and scleral coat, which provide nutritive and structural support for the retina. NNO1 inheritance is autosomal dominant. {ECO:0000269|PubMed:31048900, ECO:0000269|PubMed:31266062}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.4.-.-
uniprot
proteins
function
FUNCTION: [Myelin regulatory factor]: Constitutes a precursor of the transcription factor. Mediates the autocatalytic cleavage that releases the Myelin regulatory factor, N-terminal component that specifically activates transcription of central nervous system (CNS) myelin genes (PubMed:23966832). {ECO:0000269|PubMed:23966832}.; FUNCTION: [Myelin regulatory factor, C-terminal]: Membrane-bound part that has no transcription factor activity and remains attached to the endoplasmic reticulum membrane following cleavage. {ECO:0000269|PubMed:23966832}.; FUNCTION: [Myelin regulatory factor, N-terminal]: Transcription factor that specifically activates expression of myelin genes such as MBP, MOG, MAG, DUSP15 and PLP1 during oligodendrocyte (OL) maturation, thereby playing a central role in oligodendrocyte maturation and CNS myelination. Specifically recognizes and binds DNA sequence 5'-CTGGYAC-3' in the regulatory regions of myelin-specific genes and directly activates their expression. Not only required during oligodendrocyte differentiation but is also required on an ongoing basis for the maintenance of expression of myelin genes and for the maintenance of a mature, viable oligodendrocyte phenotype (PubMed:23966832). {ECO:0000269|PubMed:23966832}.
uniprot
proteins
mass_dalton
124397
uniprot
proteins
mutagenesis
MUTAGEN 454; /note="R->A: Decreased affinity for DNA."; /evidence="ECO:0000269|PubMed:29729323"; MUTAGEN 478; /note="R->A: Decreased affinity for DNA."; /evidence="ECO:0000269|PubMed:29729323"; MUTAGEN 530; /note="R->A: Decreased affinity for DNA."; /evidence="ECO:0000269|PubMed:29729323"; MUTAGEN 587; /note="S->A: Prevents autocatalytic cleavage and generation of Myelin regulatory factor, N-terminal part."; /evidence="ECO:0000269|PubMed:23966832"; MUTAGEN 588; /note="D->A: Reduces autocatalytic cleavage and generation of Myelin regulatory factor, N-terminal part."; /evidence="ECO:0000269|PubMed:23966832"; MUTAGEN 592; /note="K->A: Prevents autocatalytic cleavage and generation of Myelin regulatory factor, N-terminal part."; /evidence="ECO:0000269|PubMed:23966832"; MUTAGEN 608; /note="S->A: Does not affect autocatalytic cleavage."; /evidence="ECO:0000269|PubMed:23966832"; MUTAGEN 635; /note="G->A: Reduces autocatalytic cleavage and generation of Myelin regulatory factor, N-terminal part."; /evidence="ECO:0000269|PubMed:23966832"; MUTAGEN 688; /note="L->A: Does not affect autocatalytic cleavage."; /evidence="ECO:0000269|PubMed:23966832"; MUTAGEN 699; /note="L->A: Prevents autocatalytic cleavage and generation of Myelin regulatory factor, N-terminal part."; /evidence="ECO:0000269|PubMed:23966832
uniprot
proteins
post_translational_modification
PTM: [Myelin regulatory factor, C-terminal]: Glycosylated. {ECO:0000269|PubMed:23966832}.; PTM: [Myelin regulatory factor]: Follows autocatalytic cleavage via the peptidase S74 domain. Autoprocessing is apparently constitutive and is essential for transcriptional activity (PubMed:23966832). Autocatalytic cleavage is inhibited by interaction with TMEM98 (By similarity). {ECO:0000250|UniProtKB:Q3UR85, ECO:0000269|PubMed:23966832}.
uniprot
proteins
protein_family
MRF family
uniprot
proteins
pubmed
10231032
uniprot
proteins
pubmed
10828591
uniprot
proteins
pubmed
12168954
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
23966832
uniprot
proteins
pubmed
29265453
uniprot
proteins
pubmed
29446546
uniprot
proteins
pubmed
29729323
uniprot
proteins
pubmed
30070761
uniprot
proteins
pubmed
30532227
uniprot
proteins
pubmed
31048900
uniprot
proteins
pubmed
31266062
uniprot
proteins
pubmed
9615227
uniprot
proteins
sequence_length
1151
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Myelin regulatory factor]: Endoplasmic reticulum membrane {ECO:0000269|PubMed:23966832}; Single-pass membrane protein.; SUBCELLULAR LOCATION: [Myelin regulatory factor, N-terminal]: Nucleus {ECO:0000269|PubMed:23966832}. Cytoplasm {ECO:0000269|PubMed:23966832}. Note=Translocates from the cytoplasm to the nucleus upon autocatalytic cleavage. {ECO:0000269|PubMed:23966832}.; SUBCELLULAR LOCATION: [Myelin regulatory factor, C-terminal]: Endoplasmic reticulum membrane {ECO:0000269|PubMed:23966832}; Single-pass membrane protein {ECO:0000269|PubMed:23966832}.
uniprot
proteins
transmembrane_region
TRANSMEM 769..789; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins