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Aliases for MYRF Gene

Aliases for MYRF Gene

  • Myelin Regulatory Factor 2 3 5
  • Myelin Gene Regulatory Factor 2 3 4
  • C11orf9 3 4
  • MRF 3 4
  • Chromosome 11 Open Reading Frame 9 2
  • EC 3.4.-.- 4
  • KIAA0954 4
  • Pqn-47 3
  • Ndt80 3

External Ids for MYRF Gene

Previous HGNC Symbols for MYRF Gene

  • C11orf9

Previous GeneCards Identifiers for MYRF Gene

  • GC11P061521

Summaries for MYRF Gene

Entrez Gene Summary for MYRF Gene

  • 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 directly promote myelin gene expression. Loss of a similar gene in mouse models results in severe demyelination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

GeneCards Summary for MYRF Gene

MYRF (Myelin Regulatory Factor) is a Protein Coding gene. Diseases associated with MYRF include Balanitis Xerotica Obliterans and Rectal Neoplasm. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and peptidase activity. An important paralog of this gene is MYRFL.

UniProtKB/Swiss-Prot for MYRF Gene

  • 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).

  • Myelin regulatory factor, C-terminal: Membrane-bound part that has no transcription factor activity and remains attached to the endoplasmic reticulum membrane following cleavage.

  • Myelin regulatory factor, N-terminal: Transcription factor that specifically activates expression of myelin genes such as MBP, MOG, MAG 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).

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYRF Gene

Genomics for MYRF Gene

Regulatory Elements for MYRF Gene

Enhancers for MYRF Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G061693 1.9 FANTOM5 Ensembl ENCODE dbSUPER 20.9 -54.7 -54713 8.5 PKNOX1 SIN3A ZBTB7B FOS DEK ZNF263 ZHX2 REST SMARCB1 ZNF592 MYRF DKFZP434K028 DAGLA SYT7 FTH1 CYB561A3 VWCE SDHAF2 DDB1 CPSF7
GH11G061752 2 FANTOM5 Ensembl ENCODE dbSUPER 19 +3.5 3469 7.7 HDGF PKNOX1 SIN3A DMAP1 YBX1 YY1 ZNF766 ZNF143 ZNF207 FOS MYRF DKFZP434K028 TKFC INCENP
GH11G061747 1.5 Ensembl ENCODE dbSUPER 24 -4.9 -4876 1.3 HDGF ARID4B DMAP1 ZNF2 ZNF48 ZNF143 DEK SP5 REST PPARG MYRF PIR41833
GH11G061681 1.2 ENCODE dbSUPER 22 -70.0 -69960 2.9 FOXA2 MLX ARID4B DMAP1 ZNF48 SLC30A9 FOS SP5 ZHX2 MXD4 MYRF DKFZP434K028 DAGLA PIR41833
GH11G061715 1.7 FANTOM5 Ensembl ENCODE dbSUPER 15.2 -34.9 -34937 3.8 ZNF76 KLF17 ZNF2 GLIS2 EGR1 ZNF366 FOS ZNF391 CREM EGR2 MYRF DAGLA FTH1 CPSF7 CYB561A3 SDHAF2 PIR41833
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MYRF on UCSC Golden Path with GeneCards custom track

Promoters for MYRF Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000040329 63 601 HDGF HDAC1 RB1 SIN3A RAD21 ZNF121 ZNF766 EGR1 ZNF143 ZBTB11

Genomic Location for MYRF Gene

Chromosome:
11
Start:
61,752,637 bp from pter
End:
61,788,518 bp from pter
Size:
35,882 bases
Orientation:
Plus strand

Genomic View for MYRF Gene

Genes around MYRF on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYRF Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYRF Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYRF Gene

Proteins for MYRF Gene

  • Protein details for MYRF Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2G1-MRF_HUMAN
    Recommended name:
    Myelin regulatory factor
    Protein Accession:
    Q9Y2G1
    Secondary Accessions:
    • O43582
    • Q9P1Q6

    Protein attributes for MYRF Gene

    Size:
    1151 amino acids
    Molecular mass:
    124397 Da
    Quaternary structure:
    • Homotrimer.
    SequenceCaution:
    • Sequence=BAA76798.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for MYRF Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MYRF Gene

Post-translational modifications for MYRF Gene

  • Myelin regulatory factor, C-terminal: Glycosylated.
  • Myelin regulatory factor: Follows autocatalytic cleavage via the peptidase S74 domain. Autoprocessing is apparently constitutive and is essential for transcriptional activity.
  • Glycosylation at Asn919, posLast=932932, posLast=938938, Ser954, posLast=10431043, Asn1065, and posLast=11291129
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MYRF Gene

Domains & Families for MYRF Gene

Suggested Antigen Peptide Sequences for MYRF Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y2G1

UniProtKB/Swiss-Prot:

MRF_HUMAN :
  • Myelin regulatory factor, N-terminal: The nuclear localization signals mediate translocation to the nucleus.
  • Belongs to the MRF family.
Domain:
  • Myelin regulatory factor, N-terminal: The nuclear localization signals mediate translocation to the nucleus.
  • Myelin regulatory factor: The peptidase S74 domain, also named Intramolecular Chaperone Auto-processed (ICA) domain or Intramolecuar Chaperone Domain (ICD), has protease activity and mediates autocatalytic processing of the protein to generate the Myelin regulatory factor, N-terminal active transcription factor and the Myelin regulatory factor, C-terminal components.
Family:
  • Belongs to the MRF family.
genes like me logo Genes that share domains with MYRF: view

No data available for Gene Families for MYRF Gene

Function for MYRF Gene

Molecular function for MYRF Gene

UniProtKB/Swiss-Prot 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).
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Function:
Myelin regulatory factor, N-terminal: Transcription factor that specifically activates expression of myelin genes such as MBP, MOG, MAG 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).

Enzyme Numbers (IUBMB) for MYRF Gene

Gene Ontology (GO) - Molecular Function for MYRF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA --
GO:0008233 peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with MYRF: view
genes like me logo Genes that share phenotypes with MYRF: view

Animal Model Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MYRF Gene

Localization for MYRF Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYRF Gene

Myelin regulatory factor: Endoplasmic reticulum membrane; Single-pass membrane protein.
Myelin regulatory factor, N-terminal: Nucleus. Cytoplasm. Note=Translocates from the cytoplasm to the nucleus upon autocatalytic cleavage.
Myelin regulatory factor, C-terminal: Endoplasmic reticulum membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MYRF gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 5
cytosol 5
golgi apparatus 5
cytoskeleton 2
extracellular 1

Gene Ontology (GO) - Cellular Components for MYRF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
genes like me logo Genes that share ontologies with MYRF: view

Pathways & Interactions for MYRF Gene

No Data Available

Interacting Proteins for MYRF Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 13)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000278836%0d%0a9606.ENSP00000386331%0d%0a9606.ENSP00000386461%0d%0a9606.ENSP00000262269%0d%0a9606.ENSP00000245503%0d%0a9606.ENSP00000226207%0d%0a
Selected Interacting proteins: ENSP00000278836 Q9Y2G1-MRF_HUMAN for MYRF Gene via STRING IID

Gene Ontology (GO) - Biological Process for MYRF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006508 proteolysis IEA --
GO:0014003 oligodendrocyte development ISS --
GO:0022010 central nervous system myelination ISS --
genes like me logo Genes that share ontologies with MYRF: view

No data available for Pathways by source and SIGNOR curated interactions for MYRF Gene

Drugs & Compounds for MYRF Gene

No Compound Related Data Available

Transcripts for MYRF Gene

Unigene Clusters for MYRF Gene

Myelin regulatory factor:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for MYRF Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b · 14c ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b ^
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: - - - - - - - -
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:

ExUns: 19a · 19b ^ 20a · 20b ^ 21 ^ 22 ^ 23a · 23b ^ 24a · 24b · 24c · 24d ^ 25a · 25b · 25c · 25d · 25e ^ 26a · 26b · 26c ^ 27 ^ 28 ^ 29a · 29b ^ 30
SP1: -
SP2: -
SP3: -
SP4: - -
SP5: -
SP6:
SP7:
SP8:
SP9: -
SP10:
SP11: -
SP12: - - - - - - - - - -
SP13:
SP14:
SP15:
SP16:
SP17: - -
SP18:
SP19:

Relevant External Links for MYRF Gene

GeneLoc Exon Structure for
MYRF
ECgene alternative splicing isoforms for
MYRF

Expression for MYRF Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MYRF Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYRF Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x8.6), Brain - Substantia nigra (x5.5), Stomach (x4.2), and Brain - Hippocampus (x4.1).

Protein differential expression in normal tissues from HIPED for MYRF Gene

This gene is overexpressed in Cerebrospinal fluid (49.9) and Urinary Bladder (19.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MYRF Gene



Protein tissue co-expression partners for MYRF Gene

NURSA nuclear receptor signaling pathways regulating expression of MYRF Gene:

MYRF

SOURCE GeneReport for Unigene cluster for MYRF Gene:

Hs.473109

mRNA Expression by UniProt/SwissProt for MYRF Gene:

Q9Y2G1-MRF_HUMAN
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.

Evidence on tissue expression from TISSUES for MYRF Gene

  • Nervous system(4.9)
  • Muscle(2.4)
genes like me logo Genes that share expression patterns with MYRF: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for MYRF Gene

Orthologs for MYRF Gene

This gene was present in the common ancestor of animals.

Orthologs for MYRF Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MYRF 35
  • 100 (a)
OneToOne
C11H11orf9 34
  • 96.69 (n)
dog
(Canis familiaris)
Mammalia MYRF 35
  • 90 (a)
OneToOne
C18H11orf9 34
  • 89.83 (n)
cow
(Bos Taurus)
Mammalia MYRF 34 35
  • 89.67 (n)
rat
(Rattus norvegicus)
Mammalia Myrf 34
  • 86.88 (n)
mouse
(Mus musculus)
Mammalia Myrf 34 16 35
  • 86.58 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MYRF 35
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves C5H11ORF9 34
  • 73.76 (n)
MYRF 35
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MYRF 35
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia myrf 34
  • 65.14 (n)
zebrafish
(Danio rerio)
Actinopterygii myrf 34 35
  • 62.41 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3328 35
  • 20 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea pqn-47 35
  • 25 (a)
ManyToMany
F21A10.2 35
  • 23 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 56 (a)
OneToMany
Species where no ortholog for MYRF was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MYRF Gene

ENSEMBL:
Gene Tree for MYRF (if available)
TreeFam:
Gene Tree for MYRF (if available)

Paralogs for MYRF Gene

Paralogs for MYRF Gene

(1) SIMAP similar genes for MYRF Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with MYRF: view

Variants for MYRF Gene

Sequence variations from dbSNP and Humsavar for MYRF Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1057518279 Uncertain significance 61,779,931(+) TTCAG(A/G)TGACT splice-donor-variant
rs193921094 Uncertain significance 61,774,107(+) CAAGA(C/T)GCCCG reference, missense
rs1000172133 -- 61,763,613(+) AATCC(C/T)AGCAC intron-variant
rs1000224871 -- 61,764,357(+) TTCAC(A/G)CACCT intron-variant, upstream-variant-2KB
rs1000238769 -- 61,760,489(+) GCTGT(G/T)CATGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MYRF Gene

Variant ID Type Subtype PubMed ID
nsv343 CNV insertion 18451855
nsv528697 CNV loss 19592680
nsv832179 CNV loss 17160897
nsv952459 CNV deletion 24416366

Variation tolerance for MYRF Gene

Residual Variation Intolerance Score: 10.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.27; 52.92% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MYRF Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYRF

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYRF Gene

Disorders for MYRF Gene

MalaCards: The human disease database

(4) MalaCards diseases for MYRF Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
balanitis xerotica obliterans
  • penile lichen sclerosus
rectal neoplasm
  • neoplasm of rectum
vestibular nystagmus
  • nystagmus associated with disorder of the vestibular system
extratemporal epilepsy
- elite association - COSMIC cancer census association via MalaCards
Search MYRF in MalaCards View complete list of genes associated with diseases

Relevant External Links for MYRF

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MYRF
genes like me logo Genes that share disorders with MYRF: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MYRF Gene

Publications for MYRF Gene

  1. cDNA cloning and genomic structure of a novel gene (C11orf9) localized to chromosome 11q12-->q13.1 which encodes a highly conserved, potential membrane-associated protein. (PMID: 10828591) Stoehr H. … Weber B.H.F. (Cytogenet. Cell Genet. 2000) 2 3 4 64
  2. A bacteriophage tailspike domain promotes self-cleavage of a human membrane-bound transcription factor, the myelin regulatory factor MYRF. (PMID: 23966832) Li Z. … Marcotte E.M. (PLoS Biol. 2013) 3 4 64
  3. Crystal structure of the DNA-binding domain from Ndt80, a transcriptional activator required for meiosis in yeast. (PMID: 12384578) Montano S.P. … Georgiadis M.M. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 64
  4. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10231032) Nagase T. … Ohara O. (DNA Res. 1999) 3 4 64
  5. Transcript mapping of the human chromosome 11q12-q13.1 gene-rich region identifies several newly described conserved genes. (PMID: 9615227) Cooper P.R. … Shows T.B. (Genomics 1998) 3 4 64

Products for MYRF Gene

Sources for MYRF Gene

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