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Q9Y2G1

- MRF_HUMAN

UniProt

Q9Y2G1 - MRF_HUMAN

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Protein

Myelin regulatory factor

Gene
MYRF, C11orf9, KIAA0954, MRF
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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 (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 (1 Publication).

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei586 – 5872Cleavage; by autocatalysis

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi250 – 541292NDT80Add
BLAST

GO - Molecular functioni

  1. DNA binding Source: UniProtKB-KW
  2. peptidase activity Source: UniProtKB-KW
  3. sequence-specific DNA binding transcription factor activity Source: InterPro

GO - Biological processi

  1. central nervous system myelination Source: UniProtKB
  2. central nervous system myelin maintenance Source: UniProtKB
  3. oligodendrocyte development Source: UniProtKB
  4. oligodendrocyte differentiation Source: UniProtKB
  5. positive regulation of myelination Source: UniProtKB
  6. positive regulation of transcription, DNA-templated Source: UniProtKB
  7. transcription, DNA-templated Source: UniProtKB-KW
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
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:1181. MYRF.

Subcellular locationi

Chain Myelin regulatory factor : Endoplasmic reticulum membrane; Single-pass membrane protein 1 Publication
Chain Myelin regulatory factor, N-terminal : Nucleus. Cytoplasm
Note: Translocates from the cytoplasm to the nucleus upon autocatalytic cleavage.1 Publication
Chain Myelin regulatory factor, C-terminal : Endoplasmic reticulum membrane; Single-pass membrane protein 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 768768Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei769 – 78921Helical; Reviewed predictionAdd
BLAST
Topological domaini790 – 1151362Lumenal Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. endoplasmic reticulum membrane Source: UniProtKB-SubCell
  2. integral component of membrane Source: UniProtKB-KW
  3. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Endoplasmic reticulum, Membrane, Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi587 – 5871S → A: Prevents autocatalytic cleavage and generation of Myelin regulatory factor, N-terminal part. 1 Publication
Mutagenesisi588 – 5881D → A: Reduces autocatalytic cleavage and generation of Myelin regulatory factor, N-terminal part. 1 Publication
Mutagenesisi592 – 5921K → A: Prevents autocatalytic cleavage and generation of Myelin regulatory factor, N-terminal part. 1 Publication
Mutagenesisi608 – 6081S → A: Does not affect autocatalytic cleavage. 1 Publication
Mutagenesisi635 – 6351G → A: Reduces autocatalytic cleavage and generation of Myelin regulatory factor, N-terminal part. 1 Publication
Mutagenesisi688 – 6881L → A: Does not affect autocatalytic cleavage. 1 Publication
Mutagenesisi699 – 6991L → A: Prevents autocatalytic cleavage and generation of Myelin regulatory factor, N-terminal part. 1 Publication

Organism-specific databases

PharmGKBiPA25500.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 11511151Myelin regulatory factorPRO_0000318919Add
BLAST
Chaini1 – 586586Myelin regulatory factor, N-terminalPRO_0000424310Add
BLAST
Chaini587 – 1151565Myelin regulatory factor, C-terminalPRO_0000424311Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei123 – 1231N6-acetyllysine1 Publication
Glycosylationi919 – 9191N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1043 – 10431N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1065 – 10651N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1129 – 11291N-linked (GlcNAc...) Reviewed prediction

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).

Keywords - PTMi

Acetylation, Autocatalytic cleavage, Glycoprotein

Proteomic databases

MaxQBiQ9Y2G1.
PaxDbiQ9Y2G1.
PRIDEiQ9Y2G1.

PTM databases

PhosphoSiteiQ9Y2G1.

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

ArrayExpressiQ9Y2G1.
BgeeiQ9Y2G1.
CleanExiHS_C11orf9.
GenevestigatoriQ9Y2G1.

Organism-specific databases

HPAiHPA018310.

Interactioni

Subunit structurei

Homotrimer.1 Publication

Protein-protein interaction databases

BioGridi107203. 1 interaction.
DIPiDIP-60483N.
STRINGi9606.ENSP00000278836.

Structurei

3D structure databases

ProteinModelPortaliQ9Y2G1.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini587 – 696110Peptidase S74Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili680 – 71132 Reviewed predictionAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi254 – 2574Nuclear localization signal
Motifi491 – 4944Nuclear localization signal

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi77 – 330254Pro-richAdd
BLAST

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.

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG253930.
HOGENOMiHOG000111718.
InParanoidiQ9Y2G1.
OMAiCPVVCCS.
OrthoDBiEOG77M8N4.
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.
[Graphical view]
PANTHERiPTHR13029:SF16. PTHR13029:SF16. 1 hit.
PfamiPF13887. MRF_C1. 1 hit.
PF13888. MRF_C2. 1 hit.
PF05224. NDT80_PhoG. 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. Align

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

MEVVDETEAL QRFFEGHDIN GALEPSNIDT SILEEYISKE DASDLCFPDI     50
SAPASSASYS HGQPAMPGSS GVHHLSPPGG GPSPGRHGPL PPPGYGTPLN 100
CNNNNGMGAA PKPFPGGTGP PIKAEPKAPY APGTLPDSPP DSGSEAYSPQ 150
QVNEPHLLRT ITPETLCHVG VPSRLEHPPP PPAHLPGPPP PPPPPPHYPV 200
LQRDLYMKAE PPIPHYAAMG QGLVPTDLHH TQQSQMLHQL LQQHGAELPT 250
HPSKKRKHSE SPPSTLNAQM LNGMIKQEPG TVTALPLHPT RAPSPPWPPQ 300
GPLSPGPGSL PLSIARVQTP PWHPPGAPSP GLLQDSDSLS GSYLDPNYQS 350
IKWQPHQQNK WATLYDANYK ELPMLTYRVD ADKGFNFSVG DDAFVCQKKN 400
HFQVTVYIGM LGEPKYVKTP EGLKPLDCFY LKLHGVKLEA LNQSINIEQS 450
QSDRSKRPFN PVTVNLPPEQ VTKVTVGRLH FSETTANNMR KKGKPNPDQR 500
YFMLVVALQA HAQNQNYTLA AQISERIIVR ASNPGQFESD SDVLWQRAQV 550
PDTVFHHGRV GINTDRPDEA LVVHGNVKVM GSLMHPSDLR AKEHVQEVDT 600
TEQLKRISRM RLVHYRYKPE FAASAGIEAT APETGVIAQE VKEILPEAVK 650
DTGDMVFANG KTIENFLVVN KERIFMENVG AVKELCKLTD NLETRIDELE 700
RWSHKLAKLR RLDSLKSTGS SGAFSHAGSQ FSRAGSVPHK KRPPKVASKS 750
SSVVPDQACI SQRFLQGTII ALVVVMAFSV VSMSTLYVLS LRTEEDLVDT 800
DGSFAVSTSC LLALLRPQPP GGSEALCPWS SQSFGTTQLR QSPLTTGLPG 850
IQPSLLLVTT SLTSSAPGSA VRTLDMCSSH PCPVICCSSP TTNPTTGPSL 900
GPSFNPGHVL SPSPSPSTNR SGPSQMALLP VTNIRAKSWG LSVNGIGHSK 950
HHKSLEPLAS PAVPFPGGQG KAKNSPSLGF HGRARRGALQ SSVGPAEPTW 1000
AQGQSASLLA EPVPSLTSIQ VLENSMSITS QYCAPGDACR PGNFTYHIPV 1050
SSGTPLHLSL TLQMNSSSPV SVVLCSLRSK EEPCEEGSLP QSLHTHQDTQ 1100
GTSHRWPITI LSFREFTYHF RVALLGQANC SSEALAQPAT DYHFHFYRLC 1150
D 1151
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 BAA76798.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti723 – 7231A → T.
Corresponds to variant rs34038946 [ dbSNP | Ensembl ].
VAR_038907

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 1515MEVVD…QRFFE → MHWLPA in isoform 2. VSP_031300Add
BLAST
Alternative sequencei803 – 82927SFAVS…ALCPW → R in isoform 2. VSP_031301Add
BLAST
Alternative sequencei1006 – 10105Missing in isoform 2. VSP_031302

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti478 – 4847RLHFSET → GGCIQRD in AAB92668. 1 Publication
Sequence conflicti606 – 6061R → K in AAB92668. 1 Publication
Sequence conflicti657 – 6582FA → LP in AAB92668. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_001127392.1. [Q9Y2G1-1]
NP_037411.1. NM_013279.2. [Q9Y2G1-2]
UniGeneiHs.473109.

Genome annotation databases

EnsembliENST00000265460; ENSP00000265460; ENSG00000124920. [Q9Y2G1-2]
ENST00000278836; ENSP00000278836; ENSG00000124920. [Q9Y2G1-1]
GeneIDi745.
KEGGihsa:745.
UCSCiuc001nsc.1. human. [Q9Y2G1-1]
uc001nse.1. human. [Q9Y2G1-2]

Polymorphism databases

DMDMi182637560.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_001127392.1. [Q9Y2G1-1 ]
NP_037411.1. NM_013279.2. [Q9Y2G1-2 ]
UniGenei Hs.473109.

3D structure databases

ProteinModelPortali Q9Y2G1.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107203. 1 interaction.
DIPi DIP-60483N.
STRINGi 9606.ENSP00000278836.

PTM databases

PhosphoSitei Q9Y2G1.

Polymorphism databases

DMDMi 182637560.

Proteomic databases

MaxQBi Q9Y2G1.
PaxDbi Q9Y2G1.
PRIDEi Q9Y2G1.

Protocols and materials databases

DNASUi 745.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000265460 ; ENSP00000265460 ; ENSG00000124920 . [Q9Y2G1-2 ]
ENST00000278836 ; ENSP00000278836 ; ENSG00000124920 . [Q9Y2G1-1 ]
GeneIDi 745.
KEGGi hsa:745.
UCSCi uc001nsc.1. human. [Q9Y2G1-1 ]
uc001nse.1. human. [Q9Y2G1-2 ]

Organism-specific databases

CTDi 745.
GeneCardsi GC11P061521.
HGNCi HGNC:1181. MYRF.
HPAi HPA018310.
MIMi 608329. gene.
neXtProti NX_Q9Y2G1.
PharmGKBi PA25500.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG253930.
HOGENOMi HOG000111718.
InParanoidi Q9Y2G1.
OMAi CPVVCCS.
OrthoDBi EOG77M8N4.
PhylomeDBi Q9Y2G1.
TreeFami TF312888.

Miscellaneous databases

ChiTaRSi C11orf9. human.
GeneWikii Myelin_gene_Regulatory_Factor.
GenomeRNAii 745.
NextBioi 3016.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9Y2G1.
Bgeei Q9Y2G1.
CleanExi HS_C11orf9.
Genevestigatori Q9Y2G1.

Family and domain databases

Gene3Di 2.60.40.1390. 1 hit.
InterProi IPR026933. MRF.
IPR026932. MRF_C1.
IPR025719. MRF_C2.
IPR024061. NDT80_DNA-bd_dom.
IPR008967. p53-like_TF_DNA-bd.
[Graphical view ]
PANTHERi PTHR13029:SF16. PTHR13029:SF16. 1 hit.
Pfami PF13887. MRF_C1. 1 hit.
PF13888. MRF_C2. 1 hit.
PF05224. NDT80_PhoG. 1 hit.
[Graphical view ]
SUPFAMi SSF49417. SSF49417. 1 hit.
PROSITEi PS51688. ICA. 1 hit.
PS51517. NDT80. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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.

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: July 9, 2014
This is version 90 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

External Data

Dasty 3

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