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Protein

Myelin regulatory factor

Gene

MYRF

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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).1 Publication
Myelin regulatory factor, C-terminal: Membrane-bound part that has no transcription factor activity and remains attached to the endoplasmic reticulum membrane following cleavage.1 Publication
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).1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi250 – 541NDT80PROSITE-ProRule annotationAdd BLAST292

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Activator, Hydrolase, Protease

Keywords - Biological processi

Differentiation, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Myelin regulatory factor (EC:3.4.-.-)
Alternative name(s):
Myelin gene regulatory factor
Cleaved into the following 2 chains:
Gene namesi
Name:MYRF
Synonyms:C11orf9, KIAA0954, MRF
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:1181. MYRF.

Subcellular locationi

Myelin regulatory factor, N-terminal :
  • Nucleus
  • Cytoplasm

  • Note: Translocates from the cytoplasm to the nucleus upon autocatalytic cleavage.

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 768CytoplasmicSequence analysisAdd BLAST768
Transmembranei769 – 789HelicalSequence analysisAdd BLAST21
Topological domaini790 – 1151LumenalSequence analysisAdd BLAST362

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Endoplasmic reticulum, Membrane, Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi587S → A: Prevents autocatalytic cleavage and generation of Myelin regulatory factor, N-terminal part. 1 Publication1
Mutagenesisi588D → A: Reduces autocatalytic cleavage and generation of Myelin regulatory factor, N-terminal part. 1 Publication1
Mutagenesisi592K → A: Prevents autocatalytic cleavage and generation of Myelin regulatory factor, N-terminal part. 1 Publication1
Mutagenesisi608S → A: Does not affect autocatalytic cleavage. 1 Publication1
Mutagenesisi635G → A: Reduces autocatalytic cleavage and generation of Myelin regulatory factor, N-terminal part. 1 Publication1
Mutagenesisi688L → A: Does not affect autocatalytic cleavage. 1 Publication1
Mutagenesisi699L → A: Prevents autocatalytic cleavage and generation of Myelin regulatory factor, N-terminal part. 1 Publication1

Organism-specific databases

DisGeNETi745.
OpenTargetsiENSG00000124920.
PharmGKBiPA25500.

Polymorphism and mutation databases

BioMutaiMYRF.
DMDMi182637560.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003189191 – 1151Myelin regulatory factorAdd BLAST1151
ChainiPRO_00004243101 – 586Myelin regulatory factor, N-terminalAdd BLAST586
ChainiPRO_0000424311587 – 1151Myelin regulatory factor, C-terminalAdd BLAST565

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei123N6-acetyllysineCombined sources1
Glycosylationi919N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1043N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1065N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1129N-linked (GlcNAc...)Sequence analysis1

Post-translational modificationi

Myelin regulatory factor, C-terminal: Glycosylated.1 Publication
Myelin regulatory factor: Follows autocatalytic cleavage via the peptidase S74 domain. Autoprocessing is apparently constitutive and is essential for transcriptional activity.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei586 – 587Cleavage; by autolysis1 Publication2

Keywords - PTMi

Acetylation, Autocatalytic cleavage, Glycoprotein

Proteomic databases

PaxDbiQ9Y2G1.
PeptideAtlasiQ9Y2G1.
PRIDEiQ9Y2G1.

PTM databases

iPTMnetiQ9Y2G1.
PhosphoSitePlusiQ9Y2G1.

Expressioni

Tissue specificityi

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.1 Publication

Gene expression databases

BgeeiENSG00000124920.
CleanExiHS_C11orf9.
ExpressionAtlasiQ9Y2G1. baseline and differential.
GenevisibleiQ9Y2G1. HS.

Organism-specific databases

HPAiHPA018310.

Interactioni

Subunit structurei

Homotrimer.1 Publication

Protein-protein interaction databases

DIPiDIP-60483N.
STRINGi9606.ENSP00000278836.

Structurei

3D structure databases

ProteinModelPortaliQ9Y2G1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini587 – 696Peptidase S74Add BLAST110

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili680 – 711Sequence analysisAdd BLAST32

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi254 – 257Nuclear localization signal4
Motifi491 – 494Nuclear localization signal4

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi77 – 330Pro-richAdd BLAST254

Domaini

Myelin regulatory factor, N-terminal: The nuclear localization signals mediate translocation to the nucleus.1 Publication
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.1 Publication

Sequence similaritiesi

Belongs to the MRF family.Curated
Contains 1 NDT80 DNA-binding domain.PROSITE-ProRule annotation
Contains 1 peptidase S74 domain.Curated

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3661. Eukaryota.
ENOG410XPRK. LUCA.
GeneTreeiENSGT00530000063626.
HOGENOMiHOG000111718.
InParanoidiQ9Y2G1.
OMAiNIRAKSW.
OrthoDBiEOG091G0213.
PhylomeDBiQ9Y2G1.
TreeFamiTF312888.

Family and domain databases

Gene3Di2.60.40.1390. 1 hit.
InterProiIPR026933. MRF.
IPR026932. MRF_C1.
IPR025719. MRF_C2.
IPR024061. NDT80_DNA-bd_dom.
IPR008967. p53-like_TF_DNA-bd.
IPR030392. S74_ICA.
[Graphical view]
PANTHERiPTHR13029:SF16. PTHR13029:SF16. 4 hits.
PfamiPF13887. MRF_C1. 1 hit.
PF13888. MRF_C2. 1 hit.
PF05224. NDT80_PhoG. 1 hit.
PF13884. Peptidase_S74. 1 hit.
[Graphical view]
SUPFAMiSSF49417. SSF49417. 1 hit.
PROSITEiPS51688. ICA. 1 hit.
PS51517. NDT80. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y2G1-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEVVDETEAL QRFFEGHDIN GALEPSNIDT SILEEYISKE DASDLCFPDI
60 70 80 90 100
SAPASSASYS HGQPAMPGSS GVHHLSPPGG GPSPGRHGPL PPPGYGTPLN
110 120 130 140 150
CNNNNGMGAA PKPFPGGTGP PIKAEPKAPY APGTLPDSPP DSGSEAYSPQ
160 170 180 190 200
QVNEPHLLRT ITPETLCHVG VPSRLEHPPP PPAHLPGPPP PPPPPPHYPV
210 220 230 240 250
LQRDLYMKAE PPIPHYAAMG QGLVPTDLHH TQQSQMLHQL LQQHGAELPT
260 270 280 290 300
HPSKKRKHSE SPPSTLNAQM LNGMIKQEPG TVTALPLHPT RAPSPPWPPQ
310 320 330 340 350
GPLSPGPGSL PLSIARVQTP PWHPPGAPSP GLLQDSDSLS GSYLDPNYQS
360 370 380 390 400
IKWQPHQQNK WATLYDANYK ELPMLTYRVD ADKGFNFSVG DDAFVCQKKN
410 420 430 440 450
HFQVTVYIGM LGEPKYVKTP EGLKPLDCFY LKLHGVKLEA LNQSINIEQS
460 470 480 490 500
QSDRSKRPFN PVTVNLPPEQ VTKVTVGRLH FSETTANNMR KKGKPNPDQR
510 520 530 540 550
YFMLVVALQA HAQNQNYTLA AQISERIIVR ASNPGQFESD SDVLWQRAQV
560 570 580 590 600
PDTVFHHGRV GINTDRPDEA LVVHGNVKVM GSLMHPSDLR AKEHVQEVDT
610 620 630 640 650
TEQLKRISRM RLVHYRYKPE FAASAGIEAT APETGVIAQE VKEILPEAVK
660 670 680 690 700
DTGDMVFANG KTIENFLVVN KERIFMENVG AVKELCKLTD NLETRIDELE
710 720 730 740 750
RWSHKLAKLR RLDSLKSTGS SGAFSHAGSQ FSRAGSVPHK KRPPKVASKS
760 770 780 790 800
SSVVPDQACI SQRFLQGTII ALVVVMAFSV VSMSTLYVLS LRTEEDLVDT
810 820 830 840 850
DGSFAVSTSC LLALLRPQPP GGSEALCPWS SQSFGTTQLR QSPLTTGLPG
860 870 880 890 900
IQPSLLLVTT SLTSSAPGSA VRTLDMCSSH PCPVICCSSP TTNPTTGPSL
910 920 930 940 950
GPSFNPGHVL SPSPSPSTNR SGPSQMALLP VTNIRAKSWG LSVNGIGHSK
960 970 980 990 1000
HHKSLEPLAS PAVPFPGGQG KAKNSPSLGF HGRARRGALQ SSVGPAEPTW
1010 1020 1030 1040 1050
AQGQSASLLA EPVPSLTSIQ VLENSMSITS QYCAPGDACR PGNFTYHIPV
1060 1070 1080 1090 1100
SSGTPLHLSL TLQMNSSSPV SVVLCSLRSK EEPCEEGSLP QSLHTHQDTQ
1110 1120 1130 1140 1150
GTSHRWPITI LSFREFTYHF RVALLGQANC SSEALAQPAT DYHFHFYRLC

D
Length:1,151
Mass (Da):124,397
Last modified:February 26, 2008 - v3
Checksum:i9875DE9D72B6C50C
GO
Isoform 2 (identifier: Q9Y2G1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-15: MEVVDETEALQRFFE → MHWLPA
     803-829: SFAVSTSCLLALLRPQPPGGSEALCPW → R
     1006-1010: Missing.

Note: No experimental confirmation available.
Show »
Length:1,111
Mass (Da):120,225
Checksum:i5B9CAAD3EC8C8B03
GO

Sequence cautioni

The sequence BAA76798 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti478 – 484RLHFSET → GGCIQRD in AAB92668 (PubMed:9615227).Curated7
Sequence conflicti606R → K in AAB92668 (PubMed:9615227).Curated1
Sequence conflicti657 – 658FA → LP in AAB92668 (PubMed:9615227).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_038907723A → T.Corresponds to variant rs34038946dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0313001 – 15MEVVD…QRFFE → MHWLPA in isoform 2. 1 PublicationAdd BLAST15
Alternative sequenceiVSP_031301803 – 829SFAVS…ALCPW → R in isoform 2. 1 PublicationAdd BLAST27
Alternative sequenceiVSP_0313021006 – 1010Missing in isoform 2. 1 Publication5

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF086762 mRNA. Translation: AAF28400.1.
AB023171 mRNA. Translation: BAA76798.2. Different initiation.
CH471076 Genomic DNA. Translation: EAW73968.1.
AF038536 mRNA. Translation: AAB92668.1.
CCDSiCCDS31579.1. [Q9Y2G1-2]
CCDS44622.1. [Q9Y2G1-1]
RefSeqiNP_001120864.1. NM_001127392.2. [Q9Y2G1-1]
NP_037411.1. NM_013279.3. [Q9Y2G1-2]
UniGeneiHs.473109.

Genome annotation databases

EnsembliENST00000265460; ENSP00000265460; ENSG00000124920. [Q9Y2G1-2]
ENST00000278836; ENSP00000278836; ENSG00000124920. [Q9Y2G1-1]
GeneIDi745.
KEGGihsa:745.
UCSCiuc001nsc.2. human. [Q9Y2G1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF086762 mRNA. Translation: AAF28400.1.
AB023171 mRNA. Translation: BAA76798.2. Different initiation.
CH471076 Genomic DNA. Translation: EAW73968.1.
AF038536 mRNA. Translation: AAB92668.1.
CCDSiCCDS31579.1. [Q9Y2G1-2]
CCDS44622.1. [Q9Y2G1-1]
RefSeqiNP_001120864.1. NM_001127392.2. [Q9Y2G1-1]
NP_037411.1. NM_013279.3. [Q9Y2G1-2]
UniGeneiHs.473109.

3D structure databases

ProteinModelPortaliQ9Y2G1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

DIPiDIP-60483N.
STRINGi9606.ENSP00000278836.

PTM databases

iPTMnetiQ9Y2G1.
PhosphoSitePlusiQ9Y2G1.

Polymorphism and mutation databases

BioMutaiMYRF.
DMDMi182637560.

Proteomic databases

PaxDbiQ9Y2G1.
PeptideAtlasiQ9Y2G1.
PRIDEiQ9Y2G1.

Protocols and materials databases

DNASUi745.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000265460; ENSP00000265460; ENSG00000124920. [Q9Y2G1-2]
ENST00000278836; ENSP00000278836; ENSG00000124920. [Q9Y2G1-1]
GeneIDi745.
KEGGihsa:745.
UCSCiuc001nsc.2. human. [Q9Y2G1-1]

Organism-specific databases

CTDi745.
DisGeNETi745.
GeneCardsiMYRF.
HGNCiHGNC:1181. MYRF.
HPAiHPA018310.
MIMi608329. gene.
neXtProtiNX_Q9Y2G1.
OpenTargetsiENSG00000124920.
PharmGKBiPA25500.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3661. Eukaryota.
ENOG410XPRK. LUCA.
GeneTreeiENSGT00530000063626.
HOGENOMiHOG000111718.
InParanoidiQ9Y2G1.
OMAiNIRAKSW.
OrthoDBiEOG091G0213.
PhylomeDBiQ9Y2G1.
TreeFamiTF312888.

Miscellaneous databases

GeneWikiiMyelin_gene_Regulatory_Factor.
GenomeRNAii745.
PROiQ9Y2G1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000124920.
CleanExiHS_C11orf9.
ExpressionAtlasiQ9Y2G1. baseline and differential.
GenevisibleiQ9Y2G1. HS.

Family and domain databases

Gene3Di2.60.40.1390. 1 hit.
InterProiIPR026933. MRF.
IPR026932. MRF_C1.
IPR025719. MRF_C2.
IPR024061. NDT80_DNA-bd_dom.
IPR008967. p53-like_TF_DNA-bd.
IPR030392. S74_ICA.
[Graphical view]
PANTHERiPTHR13029:SF16. PTHR13029:SF16. 4 hits.
PfamiPF13887. MRF_C1. 1 hit.
PF13888. MRF_C2. 1 hit.
PF05224. NDT80_PhoG. 1 hit.
PF13884. Peptidase_S74. 1 hit.
[Graphical view]
SUPFAMiSSF49417. SSF49417. 1 hit.
PROSITEiPS51688. ICA. 1 hit.
PS51517. NDT80. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMRF_HUMAN
AccessioniPrimary (citable) accession number: Q9Y2G1
Secondary accession number(s): O43582, Q9P1Q6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: February 26, 2008
Last modified: November 2, 2016
This is version 108 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Peptidase families
    Classification of peptidase families and list of entries
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.