UniProtKB - Q9Y2G1 (MYRF_HUMAN)
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Protein
Myelin regulatory factor
Gene
MYRF
Organism
Homo sapiens (Human)
Status
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, 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).1 Publication
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 250 – 541 | NDT80PROSITE-ProRule annotationAdd BLAST | 292 |
GO - Molecular functioni
- DNA binding Source: UniProtKB
- DNA binding transcription factor activity Source: UniProtKB
- identical protein binding Source: IntAct
- peptidase activity Source: UniProtKB-KW
- RNA polymerase II transcription factor activity, sequence-specific DNA binding Source: NTNU_SB
GO - Biological processi
- central nervous system myelination Source: UniProtKB
- central nervous system myelin maintenance Source: UniProtKB
- oligodendrocyte development Source: UniProtKB
- oligodendrocyte differentiation Source: UniProtKB
- positive regulation of myelination Source: UniProtKB
- positive regulation of transcription, DNA-templated Source: UniProtKB
- transcription, DNA-templated Source: UniProtKB-KW
Keywordsi
Molecular function | Activator, DNA-binding, Hydrolase, Protease |
Biological process | Differentiation, Transcription, Transcription regulation |
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 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000124920.13. |
HGNCi | HGNC:1181. MYRF. |
MIMi | 608329. gene. |
neXtProti | NX_Q9Y2G1. |
Subcellular locationi
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 768 | CytoplasmicSequence analysisAdd BLAST | 768 | |
Transmembranei | 769 – 789 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 790 – 1151 | LumenalSequence analysisAdd BLAST | 362 |
Keywords - Cellular componenti
Cytoplasm, Endoplasmic reticulum, Membrane, NucleusPathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 587 | S → A: Prevents autocatalytic cleavage and generation of Myelin regulatory factor, N-terminal part. 1 Publication | 1 | |
Mutagenesisi | 588 | D → A: Reduces autocatalytic cleavage and generation of Myelin regulatory factor, N-terminal part. 1 Publication | 1 | |
Mutagenesisi | 592 | K → A: Prevents autocatalytic cleavage and generation of Myelin regulatory factor, N-terminal part. 1 Publication | 1 | |
Mutagenesisi | 608 | S → A: Does not affect autocatalytic cleavage. 1 Publication | 1 | |
Mutagenesisi | 635 | G → A: Reduces autocatalytic cleavage and generation of Myelin regulatory factor, N-terminal part. 1 Publication | 1 | |
Mutagenesisi | 688 | L → A: Does not affect autocatalytic cleavage. 1 Publication | 1 | |
Mutagenesisi | 699 | L → A: Prevents autocatalytic cleavage and generation of Myelin regulatory factor, N-terminal part. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 745. |
OpenTargetsi | ENSG00000124920. |
PharmGKBi | PA25500. |
Polymorphism and mutation databases
BioMutai | MYRF. |
DMDMi | 182637560. |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000318919 | 1 – 1151 | Myelin regulatory factorAdd BLAST | 1151 | |
ChainiPRO_0000424310 | 1 – 586 | Myelin regulatory factor, N-terminal1 PublicationAdd BLAST | 586 | |
ChainiPRO_0000424311 | 587 – 1151 | Myelin regulatory factor, C-terminal1 PublicationAdd BLAST | 565 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 123 | N6-acetyllysineCombined sources | 1 | |
Glycosylationi | 919 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1043 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1065 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1129 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sitei | 586 – 587 | Cleavage; by autolysis1 Publication | 2 |
Keywords - PTMi
Acetylation, Autocatalytic cleavage, GlycoproteinProteomic databases
PaxDbi | Q9Y2G1. |
PeptideAtlasi | Q9Y2G1. |
PRIDEi | Q9Y2G1. |
PTM databases
iPTMneti | Q9Y2G1. |
PhosphoSitePlusi | Q9Y2G1. |
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
Bgeei | ENSG00000124920. |
CleanExi | HS_C11orf9. |
ExpressionAtlasi | Q9Y2G1. baseline and differential. |
Genevisiblei | Q9Y2G1. HS. |
Organism-specific databases
HPAi | HPA018310. |
Interactioni
Subunit structurei
Homotrimer.1 Publication
GO - Molecular functioni
- identical protein binding Source: IntAct
Protein-protein interaction databases
DIPi | DIP-60483N. |
STRINGi | 9606.ENSP00000278836. |
Structurei
3D structure databases
ProteinModelPortali | Q9Y2G1. |
SMRi | Q9Y2G1. |
ModBasei | Search... |
MobiDBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 587 – 696 | Peptidase S74Add BLAST | 110 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 680 – 711 | Sequence analysisAdd BLAST | 32 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 254 – 257 | Nuclear localization signal1 Publication | 4 | |
Motifi | 491 – 494 | Nuclear localization signal1 Publication | 4 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 77 – 330 | Pro-richAdd BLAST | 254 |
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
Keywords - Domaini
Coiled coil, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3661. Eukaryota. ENOG410XPRK. LUCA. |
GeneTreei | ENSGT00530000063626. |
HOGENOMi | HOG000111718. |
InParanoidi | Q9Y2G1. |
OMAi | NIRAKSW. |
OrthoDBi | EOG091G0213. |
PhylomeDBi | Q9Y2G1. |
TreeFami | TF312888. |
Family and domain databases
InterProi | View protein in InterPro IPR026933. MRF. IPR026932. MRF_C1. IPR025719. MRF_C2. IPR024061. NDT80_DNA-bd_dom. IPR008967. p53-like_TF_DNA-bd. IPR030392. S74_ICA. |
PANTHERi | PTHR13029:SF16. PTHR13029:SF16. 1 hit. |
Pfami | View protein in Pfam PF13887. MRF_C1. 1 hit. PF13888. MRF_C2. 1 hit. PF05224. NDT80_PhoG. 1 hit. PF13884. Peptidase_S74. 1 hit. |
SUPFAMi | SSF49417. SSF49417. 1 hit. |
PROSITEi | View protein in PROSITE PS51688. ICA. 1 hit. PS51517. NDT80. 1 hit. |
s (2)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative 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.
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
Sequence cautioni
The sequence BAA76798 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 478 – 484 | RLHFSET → GGCIQRD in AAB92668 (PubMed:9615227).Curated | 7 | |
Sequence conflicti | 606 | R → K in AAB92668 (PubMed:9615227).Curated | 1 | |
Sequence conflicti | 657 – 658 | FA → LP in AAB92668 (PubMed:9615227).Curated | 2 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_038907 | 723 | A → T. Corresponds to variant dbSNP:rs34038946Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_031300 | 1 – 15 | MEVVD…QRFFE → MHWLPA in isoform 2. 1 PublicationAdd BLAST | 15 | |
Alternative sequenceiVSP_031301 | 803 – 829 | SFAVS…ALCPW → R in isoform 2. 1 PublicationAdd BLAST | 27 | |
Alternative sequenceiVSP_031302 | 1006 – 1010 | Missing in isoform 2. 1 Publication | 5 |
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. |
CCDSi | CCDS31579.1. [Q9Y2G1-2] CCDS44622.1. [Q9Y2G1-1] |
RefSeqi | NP_001120864.1. NM_001127392.2. [Q9Y2G1-1] NP_037411.1. NM_013279.3. [Q9Y2G1-2] |
UniGenei | Hs.473109. |
Genome annotation databases
Ensembli | ENST00000265460; ENSP00000265460; ENSG00000124920. [Q9Y2G1-2] ENST00000278836; ENSP00000278836; ENSG00000124920. [Q9Y2G1-1] |
GeneIDi | 745. |
KEGGi | hsa:745. |
UCSCi | uc001nsc.2. human. [Q9Y2G1-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Entry informationi
Entry namei | MYRF_HUMAN | |
Accessioni | Q9Y2G1Primary (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: | March 28, 2018 | |
This is version 118 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |