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Q9Y2G1 (MRF_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 90. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Myelin regulatory factor

EC=3.4.-.-
Alternative name(s):
Myelin gene regulatory factor
Gene names
Name:MYRF
Synonyms:C11orf9, KIAA0954, MRF
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1151 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Myelin regulatory factor: Consitutes 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 (Ref.7).

Myelin regulatory factor, C-terminal: Membrane-bound part that has no transcription factor activity and remains attached to the endoplasmic reticulum membrane following cleavage (Ref.7).

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 (Ref.7).

Subunit structure

Homotrimer. Ref.7

Subcellular location

Myelin regulatory factor: Endoplasmic reticulum membrane; Single-pass membrane protein Ref.7.

Myelin regulatory factor, N-terminal: Nucleus. Cytoplasm. Note: Translocates from the cytoplasm to the nucleus upon autocatalytic cleavage. Ref.7

Myelin regulatory factor, C-terminal: Endoplasmic reticulum membrane; Single-pass membrane protein Ref.7.

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. Ref.1

Domain

Myelin regulatory factor, N-terminal: The nuclear localization signals mediate translocation to the nucleus (Ref.7).

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 (Ref.7).

Post-translational modification

Myelin regulatory factor, C-terminal: Glycosylated. Ref.7

Myelin regulatory factor: Follows autocatalytic cleavage via the peptidase S74 domain. Autoprocessing is apparently constitutive and is essential for transcriptional activity (Ref.7).

Sequence similarities

Belongs to the MRF family.

Contains 1 NDT80 DNA-binding domain.

Contains 1 peptidase S74 domain.

Sequence caution

The sequence BAA76798.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
   Biological processDifferentiation
Transcription
Transcription regulation
   Cellular componentCytoplasm
Endoplasmic reticulum
Membrane
Nucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainCoiled coil
Transmembrane
Transmembrane helix
   LigandDNA-binding
   Molecular functionActivator
Hydrolase
Protease
   PTMAcetylation
Autocatalytic cleavage
Glycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcentral nervous system myelin maintenance

Inferred from sequence or structural similarity. Source: UniProtKB

central nervous system myelination

Inferred from sequence or structural similarity. Source: UniProtKB

oligodendrocyte development

Inferred from sequence or structural similarity. Source: UniProtKB

oligodendrocyte differentiation

Inferred from sequence or structural similarity. Source: UniProtKB

positive regulation of myelination

Inferred from sequence or structural similarity. Source: UniProtKB

positive regulation of transcription, DNA-templated

Inferred from sequence or structural similarity. Source: UniProtKB

transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentendoplasmic reticulum membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

nucleus

Inferred from sequence or structural similarity. Source: UniProtKB

   Molecular_functionDNA binding

Inferred from electronic annotation. Source: UniProtKB-KW

peptidase activity

Inferred from electronic annotation. Source: UniProtKB-KW

sequence-specific DNA binding transcription factor activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9Y2G1-1)

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.
Isoform 2 (identifier: Q9Y2G1-2)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 11511151Myelin regulatory factor
PRO_0000318919
Chain1 – 586586Myelin regulatory factor, N-terminal
PRO_0000424310
Chain587 – 1151565Myelin regulatory factor, C-terminal
PRO_0000424311

Regions

Topological domain1 – 768768Cytoplasmic Potential
Transmembrane769 – 78921Helical; Potential
Topological domain790 – 1151362Lumenal Potential
Domain587 – 696110Peptidase S74
DNA binding250 – 541292NDT80
Coiled coil680 – 71132 Potential
Motif254 – 2574Nuclear localization signal
Motif491 – 4944Nuclear localization signal
Compositional bias77 – 330254Pro-rich

Sites

Site586 – 5872Cleavage; by autocatalysis

Amino acid modifications

Modified residue1231N6-acetyllysine Ref.6
Glycosylation9191N-linked (GlcNAc...) Potential
Glycosylation10431N-linked (GlcNAc...) Potential
Glycosylation10651N-linked (GlcNAc...) Potential
Glycosylation11291N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1 – 1515MEVVD…QRFFE → MHWLPA in isoform 2.
VSP_031300
Alternative sequence803 – 82927SFAVS…ALCPW → R in isoform 2.
VSP_031301
Alternative sequence1006 – 10105Missing in isoform 2.
VSP_031302
Natural variant7231A → T.
Corresponds to variant rs34038946 [ dbSNP | Ensembl ].
VAR_038907

Experimental info

Mutagenesis5871S → A: Prevents autocatalytic cleavage and generation of Myelin regulatory factor, N-terminal part. Ref.7
Mutagenesis5881D → A: Reduces autocatalytic cleavage and generation of Myelin regulatory factor, N-terminal part. Ref.7
Mutagenesis5921K → A: Prevents autocatalytic cleavage and generation of Myelin regulatory factor, N-terminal part. Ref.7
Mutagenesis6081S → A: Does not affect autocatalytic cleavage. Ref.7
Mutagenesis6351G → A: Reduces autocatalytic cleavage and generation of Myelin regulatory factor, N-terminal part. Ref.7
Mutagenesis6881L → A: Does not affect autocatalytic cleavage. Ref.7
Mutagenesis6991L → A: Prevents autocatalytic cleavage and generation of Myelin regulatory factor, N-terminal part. Ref.7
Sequence conflict478 – 4847RLHFSET → GGCIQRD in AAB92668. Ref.5
Sequence conflict6061R → K in AAB92668. Ref.5
Sequence conflict657 – 6582FA → LP in AAB92668. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified February 26, 2008. Version 3.
Checksum: 9875DE9D72B6C50C

FASTA1,151124,397
        10         20         30         40         50         60 
MEVVDETEAL QRFFEGHDIN GALEPSNIDT SILEEYISKE DASDLCFPDI SAPASSASYS 

        70         80         90        100        110        120 
HGQPAMPGSS GVHHLSPPGG GPSPGRHGPL PPPGYGTPLN CNNNNGMGAA PKPFPGGTGP 

       130        140        150        160        170        180 
PIKAEPKAPY APGTLPDSPP DSGSEAYSPQ QVNEPHLLRT ITPETLCHVG VPSRLEHPPP 

       190        200        210        220        230        240 
PPAHLPGPPP PPPPPPHYPV LQRDLYMKAE PPIPHYAAMG QGLVPTDLHH TQQSQMLHQL 

       250        260        270        280        290        300 
LQQHGAELPT HPSKKRKHSE SPPSTLNAQM LNGMIKQEPG TVTALPLHPT RAPSPPWPPQ 

       310        320        330        340        350        360 
GPLSPGPGSL PLSIARVQTP PWHPPGAPSP GLLQDSDSLS GSYLDPNYQS IKWQPHQQNK 

       370        380        390        400        410        420 
WATLYDANYK ELPMLTYRVD ADKGFNFSVG DDAFVCQKKN HFQVTVYIGM LGEPKYVKTP 

       430        440        450        460        470        480 
EGLKPLDCFY LKLHGVKLEA LNQSINIEQS QSDRSKRPFN PVTVNLPPEQ VTKVTVGRLH 

       490        500        510        520        530        540 
FSETTANNMR KKGKPNPDQR YFMLVVALQA HAQNQNYTLA AQISERIIVR ASNPGQFESD 

       550        560        570        580        590        600 
SDVLWQRAQV PDTVFHHGRV GINTDRPDEA LVVHGNVKVM GSLMHPSDLR AKEHVQEVDT 

       610        620        630        640        650        660 
TEQLKRISRM RLVHYRYKPE FAASAGIEAT APETGVIAQE VKEILPEAVK DTGDMVFANG 

       670        680        690        700        710        720 
KTIENFLVVN KERIFMENVG AVKELCKLTD NLETRIDELE RWSHKLAKLR RLDSLKSTGS 

       730        740        750        760        770        780 
SGAFSHAGSQ FSRAGSVPHK KRPPKVASKS SSVVPDQACI SQRFLQGTII ALVVVMAFSV 

       790        800        810        820        830        840 
VSMSTLYVLS LRTEEDLVDT DGSFAVSTSC LLALLRPQPP GGSEALCPWS SQSFGTTQLR 

       850        860        870        880        890        900 
QSPLTTGLPG IQPSLLLVTT SLTSSAPGSA VRTLDMCSSH PCPVICCSSP TTNPTTGPSL 

       910        920        930        940        950        960 
GPSFNPGHVL SPSPSPSTNR SGPSQMALLP VTNIRAKSWG LSVNGIGHSK HHKSLEPLAS 

       970        980        990       1000       1010       1020 
PAVPFPGGQG KAKNSPSLGF HGRARRGALQ SSVGPAEPTW AQGQSASLLA EPVPSLTSIQ 

      1030       1040       1050       1060       1070       1080 
VLENSMSITS QYCAPGDACR PGNFTYHIPV SSGTPLHLSL TLQMNSSSPV SVVLCSLRSK 

      1090       1100       1110       1120       1130       1140 
EEPCEEGSLP QSLHTHQDTQ GTSHRWPITI LSFREFTYHF RVALLGQANC SSEALAQPAT 

      1150 
DYHFHFYRLC D 

« Hide

Isoform 2 [UniParc].

Checksum: 5B9CAAD3EC8C8B03
Show »

FASTA1,111120,225

References

« Hide 'large scale' references
[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."
Stoehr H., Marquardt A., White K., Weber B.H.F.
Cytogenet. Cell Genet. 88:211-216(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY.
[2]"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."
Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
DNA Res. 6:63-70(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Brain.
[3]"Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: SEQUENCE REVISION.
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"Transcript mapping of the human chromosome 11q12-q13.1 gene-rich region identifies several newly described conserved genes."
Cooper P.R., Nowak N.J., Higgins M.J., Church D.M., Shows T.B.
Genomics 49:419-429(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 476-660.
[6]"Lysine acetylation targets protein complexes and co-regulates major cellular functions."
Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-123, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[7]"A bacteriophage tailspike domain promotes self-cleavage of a human membrane-bound transcription factor, the myelin regulatory factor MYRF."
Li Z., Park Y., Marcotte E.M.
PLoS Biol. 11:E1001624-E1001624(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, SUBUNIT, PROTEOLYTIC PROCESSING, GLYCOSYLATION, AUTOCATALYTIC CLEAVAGE, TOPOLOGY, MUTAGENESIS OF SER-587; ASP-588; LYS-592; SER-608; GLY-635; LEU-688 AND LEU-699.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF086762 mRNA. Translation: AAF28400.1.
AB023171 mRNA. Translation: BAA76798.2. Different initiation.
CH471076 Genomic DNA. Translation: EAW73968.1.
AF038536 mRNA. Translation: AAB92668.1.
CCDSCCDS31579.1. [Q9Y2G1-2]
CCDS44622.1. [Q9Y2G1-1]
RefSeqNP_001120864.1. NM_001127392.1. [Q9Y2G1-1]
NP_037411.1. NM_013279.2. [Q9Y2G1-2]
UniGeneHs.473109.

3D structure databases

ProteinModelPortalQ9Y2G1.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid107203. 1 interaction.
DIPDIP-60483N.
STRING9606.ENSP00000278836.

PTM databases

PhosphoSiteQ9Y2G1.

Polymorphism databases

DMDM182637560.

Proteomic databases

MaxQBQ9Y2G1.
PaxDbQ9Y2G1.
PRIDEQ9Y2G1.

Protocols and materials databases

DNASU745.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000265460; ENSP00000265460; ENSG00000124920. [Q9Y2G1-2]
ENST00000278836; ENSP00000278836; ENSG00000124920. [Q9Y2G1-1]
GeneID745.
KEGGhsa:745.
UCSCuc001nsc.1. human. [Q9Y2G1-1]
uc001nse.1. human. [Q9Y2G1-2]

Organism-specific databases

CTD745.
GeneCardsGC11P061521.
HGNCHGNC:1181. MYRF.
HPAHPA018310.
MIM608329. gene.
neXtProtNX_Q9Y2G1.
PharmGKBPA25500.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG253930.
HOGENOMHOG000111718.
InParanoidQ9Y2G1.
OMACPVVCCS.
OrthoDBEOG77M8N4.
PhylomeDBQ9Y2G1.
TreeFamTF312888.

Gene expression databases

ArrayExpressQ9Y2G1.
BgeeQ9Y2G1.
CleanExHS_C11orf9.
GenevestigatorQ9Y2G1.

Family and domain databases

Gene3D2.60.40.1390. 1 hit.
InterProIPR026933. MRF.
IPR026932. MRF_C1.
IPR025719. MRF_C2.
IPR024061. NDT80_DNA-bd_dom.
IPR008967. p53-like_TF_DNA-bd.
[Graphical view]
PANTHERPTHR13029:SF16. PTHR13029:SF16. 1 hit.
PfamPF13887. MRF_C1. 1 hit.
PF13888. MRF_C2. 1 hit.
PF05224. NDT80_PhoG. 1 hit.
[Graphical view]
SUPFAMSSF49417. SSF49417. 1 hit.
PROSITEPS51688. ICA. 1 hit.
PS51517. NDT80. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSC11orf9. human.
GeneWikiMyelin_gene_Regulatory_Factor.
GenomeRNAi745.
NextBio3016.
SOURCESearch...

Entry information

Entry nameMRF_HUMAN
AccessionPrimary (citable) accession number: Q9Y2G1
Secondary accession number(s): O43582, Q9P1Q6
Entry history
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: February 26, 2008
Last modified: July 9, 2014
This is version 90 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Peptidase families

Classification of peptidase families and list of entries

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM