• Gene id: 745

Gene Summary

• Gene Symbol: MYRF   Gene   UCSC   Ensembl
• Aliases: 11orf9, C11orf9, CUGS, MMERV, MRF, Ndt80, pqn-47
• Gene name: myelin regulatory factor
• Alternate names: myelin regulatory factor, myelin gene regulatory factor,
• Gene location: 11q12.2 (61752616: 61788517)     Exons: 29     NC_000011.10
• Gene summary(Entrez): This gene encodes a transcription factor that is required for central nervous system myelination and may regulate oligodendrocyte differentiation. It is thought to act by increasing the expression of genes that effect myelin production but may also direct
• OMIM: 602159

SNPs

rs12286075

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.20937248T>C
NC_000011.9   g.20958794T>C
NG_047064.1   g.272698T>C|SEQ=[T/C]|GENE=NELL1

rs7106789

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.21548178T>C
NC_000011.9   g.21569724T>C
NG_047064.1   g.883628T>C|SEQ=[T/C]|GENE=NELL1

rs680730

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.117604518C>T
NC_000011.9   g.117475233C>T
NG_051656.1   g.197744G>A|SEQ=[C/T]|GENE=DSCAML1

Protein Summary

• Protein general information: Q9Y2G1  
  • Name: Myelin regulatory factor (EC 3.4. . ) (Myelin gene regulatory factor) [Cleaved into: Myelin regulatory factor, N terminal; Myelin regulatory factor, C terminal]
  • Length: 1151  
  • Mass: 124397
  • Tissue specificity: Expressed in lung, ARPE-19 cell line, brainstem, uterus and, to a lesser extent, in basal ganglion and liver. Weakly expressed in cerebellum and retina. {ECO
• Sequence:

  MEVVDETEALQRFFEGHDINGALEPSNIDTSILEEYISKEDASDLCFPDISAPASSASYSHGQPAMPGSSGVHHL
  SPPGGGPSPGRHGPLPPPGYGTPLNCNNNNGMGAAPKPFPGGTGPPIKAEPKAPYAPGTLPDSPPDSGSEAYSPQ
  QVNEPHLLRTITPETLCHVGVPSRLEHPPPPPAHLPGPPPPPPPPPHYPVLQRDLYMKAEPPIPHYAAMGQGLVP
  TDLHHTQQSQMLHQLLQQHGAELPTHPSKKRKHSESPPSTLNAQMLNGMIKQEPGTVTALPLHPTRAPSPPWPPQ
  GPLSPGPGSLPLSIARVQTPPWHPPGAPSPGLLQDSDSLSGSYLDPNYQSIKWQPHQQNKWATLYDANYKELPML
  TYRVDADKGFNFSVGDDAFVCQKKNHFQVTVYIGMLGEPKYVKTPEGLKPLDCFYLKLHGVKLEALNQSINIEQS
  QSDRSKRPFNPVTVNLPPEQVTKVTVGRLHFSETTANNMRKKGKPNPDQRYFMLVVALQAHAQNQNYTLAAQISE
  RIIVRASNPGQFESDSDVLWQRAQVPDTVFHHGRVGINTDRPDEALVVHGNVKVMGSLMHPSDLRAKEHVQEVDT
  TEQLKRISRMRLVHYRYKPEFAASAGIEATAPETGVIAQEVKEILPEAVKDTGDMVFANGKTIENFLVVNKERIF
  MENVGAVKELCKLTDNLETRIDELERWSHKLAKLRRLDSLKSTGSSGAFSHAGSQFSRAGSVPHKKRPPKVASKS
  SSVVPDQACISQRFLQGTIIALVVVMAFSVVSMSTLYVLSLRTEEDLVDTDGSFAVSTSCLLALLRPQPPGGSEA
  LCPWSSQSFGTTQLRQSPLTTGLPGIQPSLLLVTTSLTSSAPGSAVRTLDMCSSHPCPVICCSSPTTNPTTGPSL
  GPSFNPGHVLSPSPSPSTNRSGPSQMALLPVTNIRAKSWGLSVNGIGHSKHHKSLEPLASPAVPFPGGQGKAKNS
  PSLGFHGRARRGALQSSVGPAEPTWAQGQSASLLAEPVPSLTSIQVLENSMSITSQYCAPGDACRPGNFTYHIPV
  SSGTPLHLSLTLQMNSSSPVSVVLCSLRSKEEPCEEGSLPQSLHTHQDTQGTSHRWPITILSFREFTYHFRVALL
  GQANCSSEALAQPATDYHFHFYRLCD

• Structural information:
  • Protein Domains: (587..69-)
    (/note="Peptidase-S74)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01025"-)
  • Interpro: IPR026933  IPR026932  IPR025719  IPR024061  IPR008967   IPR030392  
  • Prosite: PS51688 PS51517
  • PDB: 5YHU 5ZHU
  • PDBsum: 5YHU 5ZHU
  • DIP: 60483
  • STRING: ENSP00000278836
• Other Databases: GeneCards:  MYRF  Malacards:  MYRF

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0032286	central nervous system myelin maintenance	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IBA	biological process
GO:0043565	sequence-specific DNA binding	IBA	molecular function
GO:0003700	DNA-binding transcription factor activity	IBA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0031643	positive regulation of myelination	ISS	biological process
GO:0014003	oligodendrocyte development	ISS	biological process
GO:0005789	endoplasmic reticulum membrane	ISS	cellular component
GO:0016540	protein autoprocessing	ISS	biological process
GO:0048709	oligodendrocyte differentiation	ISS	biological process
GO:0032286	central nervous system myelin maintenance	ISS	biological process
GO:0022010	central nervous system myelination	ISS	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0022010	central nervous system myelination	IEA	biological process
GO:0032286	central nervous system myelin maintenance	IEA	biological process
GO:0048709	oligodendrocyte differentiation	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0014003	oligodendrocyte development	IEA	biological process
GO:0016540	protein autoprocessing	IEA	biological process
GO:0031643	positive regulation of myelination	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq