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Q9P2K5

- MYEF2_HUMAN

UniProt

Q9P2K5 - MYEF2_HUMAN

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Protein
Myelin expression factor 2
Gene
MYEF2, KIAA1341
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Transcriptional repressor of the myelin basic protein gene (MBP). Binds to the proximal MB1 element 5'-TTGTCC-3' of the MBP promoter. Its binding to MB1 and function are inhibited by PURA By similarity.

GO - Molecular functioni

  1. DNA binding Source: UniProtKB-KW
  2. nucleotide binding Source: InterPro
  3. poly(A) RNA binding Source: UniProtKB
Complete GO annotation...

GO - Biological processi

  1. myotube differentiation Source: UniProtKB
  2. neuron differentiation Source: UniProtKB
  3. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Repressor

Keywords - Biological processi

Transcription

Keywords - Ligandi

DNA-binding, RNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Myelin expression factor 2
Short name:
MEF-2
Short name:
MyEF-2
Alternative name(s):
MST156
Gene namesi
Name:MYEF2
Synonyms:KIAA1341
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 15

Organism-specific databases

HGNCiHGNC:17940. MYEF2.

Subcellular locationi

GO - Cellular componenti

  1. cytoplasm Source: HPA
  2. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134877084.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 600600Myelin expression factor 2
PRO_0000081655Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei17 – 171Phosphoserine1 Publication
Modified residuei431 – 4311Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9P2K5.
PaxDbiQ9P2K5.
PRIDEiQ9P2K5.

PTM databases

PhosphoSiteiQ9P2K5.

Expressioni

Gene expression databases

BgeeiQ9P2K5.
CleanExiHS_MYEF2.
GenevestigatoriQ9P2K5.

Organism-specific databases

HPAiHPA004883.

Interactioni

Subunit structurei

Monomer By similarity.

Protein-protein interaction databases

BioGridi119124. 14 interactions.
STRINGi9606.ENSP00000316950.

Structurei

3D structure databases

ProteinModelPortaliQ9P2K5.
SMRiQ9P2K5. Positions 102-176, 226-317, 519-600.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini100 – 17879RRM 1
Add
BLAST
Domaini233 – 31078RRM 2
Add
BLAST
Domaini523 – 59977RRM 3
Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi330 – 522193Gly-rich
Add
BLAST

Sequence similaritiesi

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiCOG0724.
HOVERGENiHBG054880.
InParanoidiQ9P2K5.
OMAiHEEYRSH.
OrthoDBiEOG7ZSHSK.
PhylomeDBiQ9P2K5.
TreeFamiTF313406.

Family and domain databases

Gene3Di3.30.70.330. 3 hits.
InterProiIPR012677. Nucleotide-bd_a/b_plait.
IPR000504. RRM_dom.
[Graphical view]
PfamiPF00076. RRM_1. 3 hits.
[Graphical view]
SMARTiSM00360. RRM. 3 hits.
[Graphical view]
PROSITEiPS50102. RRM. 3 hits.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9P2K5-1) [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

MADANKAEVP GATGGDSPHL QPAEPPGEPR REPHPAEAEK QQPQHSSSSN    50
GVKMENDESA KEEKSDLKEK STGSKKANRF HPYSKDKNSG AGEKKGPNRN 100
RVFISNIPYD MKWQAIKDLM REKVGEVTYV ELFKDAEGKS RGCGVVEFKD 150
EEFVKKALET MNKYDLSGRP LNIKEDPDGE NARRALQRTG GSFPGGHVPD 200
MGSGLMNLPP SILNNPNIPP EVISNLQAGR LGSTIFVANL DFKVGWKKLK 250
EVFSIAGTVK RADIKEDKDG KSRGMGTVTF EQAIEAVQAI SMFNGQFLFD 300
RPMHVKMDDK SVPHEEYRSH DGKTPQLPRG LGGIGMGLGP GGQPISASQL 350
NIGGVMGNLG PGGMGMDGPG FGGMNRIGGG IGFGGLEAMN SMGGFGGVGR 400
MGELYRGAMT SSMERDFGRG DIGINQGFGD SFGRLGSAMI GGFAGRIGSS 450
NMGPVGSGIS GGMGSMNSVT GGMGMGLDRM SSSFDRMGPG IGAILERSID 500
MDRGFLSGPM GSGMRERIGS KGNQIFVRNL PFDLTWQKLK EKFSQCGHVM 550
FAEIKMENGK SKGCGTVRFD SPESAEKACR IMNGIKISGR EIDVRLDRNA 600
Length:600
Mass (Da):64,122
Last modified:May 18, 2010 - v3
Checksum:iC965138A61B62DC3
GO
Isoform 2 (identifier: Q9P2K5-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     437-460: Missing.

Show »
Length:576
Mass (Da):61,929
Checksum:i5A3A9D34B084ABC7
GO
Isoform 3 (identifier: Q9P2K5-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-388: Missing.
     437-460: Missing.

Show »
Length:188
Mass (Da):20,266
Checksum:i40BBBBDDA769E353
GO
Isoform 4 (identifier: Q9P2K5-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     124-128: VGEVT → GLWCG
     129-600: Missing.

Show »
Length:128
Mass (Da):14,125
Checksum:i7322C827DC690A50
GO

Sequence cautioni

The sequence AAQ13703.1 differs from that shown. Reason: Frameshift at position 344.
The sequence AAH14533.3 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
The sequence BAA92579.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti91 – 911A → T.4 Publications
Corresponds to variant rs8023906 [ dbSNP | Ensembl ].
VAR_052209
Natural varianti426 – 4261Q → R.4 Publications
Corresponds to variant rs2470103 [ dbSNP | Ensembl ].
VAR_061829
Natural varianti465 – 4651S → G.2 Publications
Corresponds to variant rs36075490 [ dbSNP | Ensembl ].
VAR_052210

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 388388Missing in isoform 3.
VSP_013451Add
BLAST
Alternative sequencei124 – 1285VGEVT → GLWCG in isoform 4.
VSP_013452
Alternative sequencei129 – 600472Missing in isoform 4.
VSP_013453Add
BLAST
Alternative sequencei437 – 46024Missing in isoform 2 and isoform 3.
VSP_013454Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti186 – 1861L → S in BAB14421. 1 Publication
Sequence conflicti364 – 3641M → G in AAH14533. 1 Publication
Sequence conflicti578 – 5781A → T in AAQ13703. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB037762 mRNA. Translation: BAA92579.1. Different initiation.
AK002075 mRNA. Translation: BAA92070.1.
AK023133 mRNA. Translation: BAB14421.1.
AC066612 Genomic DNA. No translation available.
AC090526 Genomic DNA. No translation available.
BC014533 mRNA. Translation: AAH14533.3. Different initiation.
BC068523 mRNA. Translation: AAH68523.1.
BC152420 mRNA. Translation: AAI52421.1.
BC152451 mRNA. Translation: AAI52452.1.
AF190159 mRNA. Translation: AAQ13703.1. Frameshift.
CCDSiCCDS32230.1. [Q9P2K5-1]
RefSeqiNP_057216.2. NM_016132.3.
UniGeneiHs.6638.

Genome annotation databases

EnsembliENST00000267836; ENSP00000267836; ENSG00000104177. [Q9P2K5-2]
ENST00000324324; ENSP00000316950; ENSG00000104177. [Q9P2K5-1]
ENST00000561151; ENSP00000452913; ENSG00000104177. [Q9P2K5-4]
ENST00000561351; ENSP00000453125; ENSG00000104177. [Q9P2K5-4]
GeneIDi50804.
KEGGihsa:50804.
UCSCiuc001zwg.4. human. [Q9P2K5-3]
uc001zwi.4. human. [Q9P2K5-1]
uc001zwj.4. human. [Q9P2K5-2]

Polymorphism databases

DMDMi296439294.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB037762 mRNA. Translation: BAA92579.1 . Different initiation.
AK002075 mRNA. Translation: BAA92070.1 .
AK023133 mRNA. Translation: BAB14421.1 .
AC066612 Genomic DNA. No translation available.
AC090526 Genomic DNA. No translation available.
BC014533 mRNA. Translation: AAH14533.3 . Different initiation.
BC068523 mRNA. Translation: AAH68523.1 .
BC152420 mRNA. Translation: AAI52421.1 .
BC152451 mRNA. Translation: AAI52452.1 .
AF190159 mRNA. Translation: AAQ13703.1 . Frameshift.
CCDSi CCDS32230.1. [Q9P2K5-1 ]
RefSeqi NP_057216.2. NM_016132.3.
UniGenei Hs.6638.

3D structure databases

ProteinModelPortali Q9P2K5.
SMRi Q9P2K5. Positions 102-176, 226-317, 519-600.
ModBasei Search...

Protein-protein interaction databases

BioGridi 119124. 14 interactions.
STRINGi 9606.ENSP00000316950.

PTM databases

PhosphoSitei Q9P2K5.

Polymorphism databases

DMDMi 296439294.

Proteomic databases

MaxQBi Q9P2K5.
PaxDbi Q9P2K5.
PRIDEi Q9P2K5.

Protocols and materials databases

DNASUi 50804.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000267836 ; ENSP00000267836 ; ENSG00000104177 . [Q9P2K5-2 ]
ENST00000324324 ; ENSP00000316950 ; ENSG00000104177 . [Q9P2K5-1 ]
ENST00000561151 ; ENSP00000452913 ; ENSG00000104177 . [Q9P2K5-4 ]
ENST00000561351 ; ENSP00000453125 ; ENSG00000104177 . [Q9P2K5-4 ]
GeneIDi 50804.
KEGGi hsa:50804.
UCSCi uc001zwg.4. human. [Q9P2K5-3 ]
uc001zwi.4. human. [Q9P2K5-1 ]
uc001zwj.4. human. [Q9P2K5-2 ]

Organism-specific databases

CTDi 50804.
GeneCardsi GC15M048434.
HGNCi HGNC:17940. MYEF2.
HPAi HPA004883.
neXtProti NX_Q9P2K5.
PharmGKBi PA134877084.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0724.
HOVERGENi HBG054880.
InParanoidi Q9P2K5.
OMAi HEEYRSH.
OrthoDBi EOG7ZSHSK.
PhylomeDBi Q9P2K5.
TreeFami TF313406.

Miscellaneous databases

GenomeRNAii 50804.
NextBioi 53234.
PROi Q9P2K5.

Gene expression databases

Bgeei Q9P2K5.
CleanExi HS_MYEF2.
Genevestigatori Q9P2K5.

Family and domain databases

Gene3Di 3.30.70.330. 3 hits.
InterProi IPR012677. Nucleotide-bd_a/b_plait.
IPR000504. RRM_dom.
[Graphical view ]
Pfami PF00076. RRM_1. 3 hits.
[Graphical view ]
SMARTi SM00360. RRM. 3 hits.
[Graphical view ]
PROSITEi PS50102. RRM. 3 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
    DNA Res. 7:65-73(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS THR-91 AND ARG-426.
    Tissue: Brain.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3), VARIANTS VARIANTS THR-91; ARG-426 AND GLY-465.
    Tissue: Placenta and Teratocarcinoma.
  3. "Analysis of the DNA sequence and duplication history of human chromosome 15."
    Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
    , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
    Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 4), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 364-600 (ISOFORM 2), VARIANTS THR-91 AND ARG-426.
    Tissue: Bone marrow and Testis.
  5. "Homo sapiens normal aorta mRNA MST156, complete cds."
    Hui R.T., Sheng H., Qin B.M., Liu B., Zhao B., Liu Y.Q., Zhang Q., Song L., Liu B.H., Lu H., Wang X.Y.
    Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 39-582 (ISOFORM 2), VARIANTS THR-91; ARG-426 AND GLY-465.
    Tissue: Aorta.
  6. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  7. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-17 AND SER-431, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiMYEF2_HUMAN
AccessioniPrimary (citable) accession number: Q9P2K5
Secondary accession number(s): A7MCZ9
, C9J921, C9K0J4, Q6NUM5, Q7L388, Q7Z4B7, Q9H922, Q9NUQ1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 26, 2005
Last sequence update: May 18, 2010
Last modified: July 9, 2014
This is version 101 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 15
    Human chromosome 15: 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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