Seroatlas · Human Serome Atlas

MYRF

Myelin regulatory factor

Also known as: C11orf9, MRF, MYRF_HUMAN, Ndt80, pqn-47

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9Y2G1
Gene: MYRF
Ensembl: ENSG00000124920
Chromosome: 11
Canonical length: 1151 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted membrane proteins, Transcription factors
Subcellular location: Nucleoplasm,Cytosol
Quaternary structure: Homotrimer

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

1151 residues, UniProt reviewed canonical sequence.

>Q9Y2G1|MYRF
     1  MEVVDETEAL QRFFEGHDIN GALEPSNIDT SILEEYISKE DASDLCFPDI SAPASSASYS
    61  HGQPAMPGSS GVHHLSPPGG GPSPGRHGPL PPPGYGTPLN CNNNNGMGAA PKPFPGGTGP
   121  PIKAEPKAPY APGTLPDSPP DSGSEAYSPQ QVNEPHLLRT ITPETLCHVG VPSRLEHPPP
   181  PPAHLPGPPP PPPPPPHYPV LQRDLYMKAE PPIPHYAAMG QGLVPTDLHH TQQSQMLHQL
   241  LQQHGAELPT HPSKKRKHSE SPPSTLNAQM LNGMIKQEPG TVTALPLHPT RAPSPPWPPQ
   301  GPLSPGPGSL PLSIARVQTP PWHPPGAPSP GLLQDSDSLS GSYLDPNYQS IKWQPHQQNK
   361  WATLYDANYK ELPMLTYRVD ADKGFNFSVG DDAFVCQKKN HFQVTVYIGM LGEPKYVKTP
   421  EGLKPLDCFY LKLHGVKLEA LNQSINIEQS QSDRSKRPFN PVTVNLPPEQ VTKVTVGRLH
   481  FSETTANNMR KKGKPNPDQR YFMLVVALQA HAQNQNYTLA AQISERIIVR ASNPGQFESD
   541  SDVLWQRAQV PDTVFHHGRV GINTDRPDEA LVVHGNVKVM GSLMHPSDLR AKEHVQEVDT
   601  TEQLKRISRM RLVHYRYKPE FAASAGIEAT APETGVIAQE VKEILPEAVK DTGDMVFANG
   661  KTIENFLVVN KERIFMENVG AVKELCKLTD NLETRIDELE RWSHKLAKLR RLDSLKSTGS
   721  SGAFSHAGSQ FSRAGSVPHK KRPPKVASKS SSVVPDQACI SQRFLQGTII ALVVVMAFSV
   781  VSMSTLYVLS LRTEEDLVDT DGSFAVSTSC LLALLRPQPP GGSEALCPWS SQSFGTTQLR
   841  QSPLTTGLPG IQPSLLLVTT SLTSSAPGSA VRTLDMCSSH PCPVICCSSP TTNPTTGPSL
   901  GPSFNPGHVL SPSPSPSTNR SGPSQMALLP VTNIRAKSWG LSVNGIGHSK HHKSLEPLAS
   961  PAVPFPGGQG KAKNSPSLGF HGRARRGALQ SSVGPAEPTW AQGQSASLLA EPVPSLTSIQ
  1021  VLENSMSITS QYCAPGDACR PGNFTYHIPV SSGTPLHLSL TLQMNSSSPV SVVLCSLRSK
  1081  EEPCEEGSLP QSLHTHQDTQ GTSHRWPITI LSFREFTYHF RVALLGQANC SSEALAQPAT
  1141  DYHFHFYRLC D

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MYRF can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Other membrane
Secreted: No
Transmembrane segments: 1
Mean surface accessibility (rSASA): 0.54
Highest tissue expression: 69 nTPM

Expression across tissuesHPA

Tissue

spinal cord: 69 nTPM
stomach: 48 nTPM
hippocampal formation: 32 nTPM
cerebral cortex: 30 nTPM
midbrain: 29 nTPM
basal ganglia: 24 nTPM

Single-cell type

oligodendrocytes: 387 nCPM
retinal pigment epithelial cells: 350 nCPM
foveolar cells: 151 nCPM
alveolar cells type 1: 142 nCPM
epicardial cells: 111 nCPM
mesothelial cells: 102 nCPM

Immune cell

gdT-cell: 0.1 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

white matter: 374 nTPM
medulla oblongata: 251 nTPM
basal ganglia: 239 nTPM
midbrain: 223 nTPM
thalamus: 214 nTPM
cerebral cortex: 213 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MYRF.

Disease | AllUniProt

Conditions MYRF is implicated in, by any mechanism.

Encephalitis/encephalopathy, mild, with reversible myelin vacuolization (MMERV) MIM:618113
Cardiac-urogenital syndrome (CUGS) MIM:618280
Nanophthalmos 1 (NNO1) MIM:600165

Disease | GeneticClinVar

69 pathogenic / likely-pathogenic of 365 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Cardiac-urogenital syndrome
MYRF-related disorder
Urogenital tract malformation
Abnormal heart morphology
Encephalitis/encephalopathy, mild, with reversible myelin vacuolization

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.12
gnomAD pLI: 1
gnomAD missense Z: 3.29
DepMap mean gene effect: -0.2
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads MYRF as an antibody target. Whether an autoantibody or antibody against MYRF could matter depends on whether native MYRF is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MYRF is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label MYRF as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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