Q9P2K5 (MYEF2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Myelin expression factor 2
Short name=MEF-2
Short name=MyEF-2

Alternative name(s):
MST156

Gene names

Name:	MYEF2
Synonyms:	KIAA1341

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	600 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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.
Subunit structure	Monomer By similarity.
Subcellular location	Nucleus.
Sequence similarities	Contains 3 RRM (RNA recognition motif) domains.
Sequence caution	The sequence AAH14533.3 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence AAQ13703.1 differs from that shown. Reason: Frameshift at position 344. The sequence BAA92579.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
Biological process	Transcription
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat
Ligand	DNA-binding RNA-binding
Molecular function	Repressor
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	myotube differentiation Inferred from expression pattern PubMed 8455629. Source: UniProtKB neuron differentiation Inferred from expression pattern PubMed 8455629. Source: UniProtKB transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	Golgi apparatus Inferred from direct assay. Source: HPA nucleus Inferred from direct assay PubMed 8455629. Source: UniProtKB
Molecular_function	DNA binding Inferred from electronic annotation. Source: UniProtKB-KW RNA binding Inferred from electronic annotation. Source: UniProtKB-KW nucleotide binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9P2K5-1)

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: Q9P2K5-2)

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

Isoform 3 (identifier: Q9P2K5-3)

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

Isoform 4 (identifier: Q9P2K5-4)

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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 600	600	Myelin expression factor 2		PRO_0000081655
Regions
	Domain	100 – 178	79	RRM 1
	Domain	233 – 310	78	RRM 2
	Domain	523 – 599	77	RRM 3
	Compositional bias	330 – 522	193	Gly-rich
Amino acid modifications
	Modified residue	17	1	Phosphoserine Ref.7
	Modified residue	431	1	Phosphoserine Ref.7
Natural variations
	Alternative sequence	1 – 388	388	Missing in isoform 3.		VSP_013451
	Alternative sequence	124 – 128	5	VGEVT → GLWCG in isoform 4.		VSP_013452
	Alternative sequence	129 – 600	472	Missing in isoform 4.		VSP_013453
	Alternative sequence	437 – 460	24	Missing in isoform 2 and isoform 3.		VSP_013454
	Natural variant	91	1	A → T. Ref.1 Ref.2 Ref.4 Ref.5 Corresponds to variant rs8023906 [ dbSNP | Ensembl ].		VAR_052209
	Natural variant	426	1	Q → R. Ref.1 Ref.2 Ref.4 Ref.5 Corresponds to variant rs2470103 [ dbSNP | Ensembl ].		VAR_061829
	Natural variant	465	1	S → G. Ref.2 Ref.5 Corresponds to variant rs36075490 [ dbSNP | Ensembl ].		VAR_052210
Experimental info
	Sequence conflict	186	1	L → S in BAB14421. Ref.2
	Sequence conflict	364	1	M → G in AAH14533. Ref.4
	Sequence conflict	578	1	A → T in AAQ13703. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 18, 2010. Version 3. Checksum: C965138A61B62DC3	FASTA	600	64,122
	10 20 30 40 50 60 MADANKAEVP GATGGDSPHL QPAEPPGEPR REPHPAEAEK QQPQHSSSSN GVKMENDESA 70 80 90 100 110 120 KEEKSDLKEK STGSKKANRF HPYSKDKNSG AGEKKGPNRN RVFISNIPYD MKWQAIKDLM 130 140 150 160 170 180 REKVGEVTYV ELFKDAEGKS RGCGVVEFKD EEFVKKALET MNKYDLSGRP LNIKEDPDGE 190 200 210 220 230 240 NARRALQRTG GSFPGGHVPD MGSGLMNLPP SILNNPNIPP EVISNLQAGR LGSTIFVANL 250 260 270 280 290 300 DFKVGWKKLK EVFSIAGTVK RADIKEDKDG KSRGMGTVTF EQAIEAVQAI SMFNGQFLFD 310 320 330 340 350 360 RPMHVKMDDK SVPHEEYRSH DGKTPQLPRG LGGIGMGLGP GGQPISASQL NIGGVMGNLG 370 380 390 400 410 420 PGGMGMDGPG FGGMNRIGGG IGFGGLEAMN SMGGFGGVGR MGELYRGAMT SSMERDFGRG 430 440 450 460 470 480 DIGINQGFGD SFGRLGSAMI GGFAGRIGSS NMGPVGSGIS GGMGSMNSVT GGMGMGLDRM 490 500 510 520 530 540 SSSFDRMGPG IGAILERSID MDRGFLSGPM GSGMRERIGS KGNQIFVRNL PFDLTWQKLK 550 560 570 580 590 600 EKFSQCGHVM FAEIKMENGK SKGCGTVRFD SPESAEKACR IMNGIKISGR EIDVRLDRNA
	Isoform 2 [UniParc]. Checksum: 5A3A9D34B084ABC7	FASTA	576	61,929
	10 20 30 40 50 60 MADANKAEVP GATGGDSPHL QPAEPPGEPR REPHPAEAEK QQPQHSSSSN GVKMENDESA 70 80 90 100 110 120 KEEKSDLKEK STGSKKANRF HPYSKDKNSG AGEKKGPNRN RVFISNIPYD MKWQAIKDLM 130 140 150 160 170 180 REKVGEVTYV ELFKDAEGKS RGCGVVEFKD EEFVKKALET MNKYDLSGRP LNIKEDPDGE 190 200 210 220 230 240 NARRALQRTG GSFPGGHVPD MGSGLMNLPP SILNNPNIPP EVISNLQAGR LGSTIFVANL 250 260 270 280 290 300 DFKVGWKKLK EVFSIAGTVK RADIKEDKDG KSRGMGTVTF EQAIEAVQAI SMFNGQFLFD 310 320 330 340 350 360 RPMHVKMDDK SVPHEEYRSH DGKTPQLPRG LGGIGMGLGP GGQPISASQL NIGGVMGNLG 370 380 390 400 410 420 PGGMGMDGPG FGGMNRIGGG IGFGGLEAMN SMGGFGGVGR MGELYRGAMT SSMERDFGRG 430 440 450 460 470 480 DIGINQGFGD SFGRLGGGMG SMNSVTGGMG MGLDRMSSSF DRMGPGIGAI LERSIDMDRG 490 500 510 520 530 540 FLSGPMGSGM RERIGSKGNQ IFVRNLPFDL TWQKLKEKFS QCGHVMFAEI KMENGKSKGC 550 560 570 GTVRFDSPES AEKACRIMNG IKISGREIDV RLDRNA
	Isoform 3 [UniParc]. Checksum: 40BBBBDDA769E353	FASTA	188	20,266
	10 20 30 40 50 60 MNSMGGFGGV GRMGELYRGA MTSSMERDFG RGDIGINQGF GDSFGRLGGG MGSMNSVTGG 70 80 90 100 110 120 MGMGLDRMSS SFDRMGPGIG AILERSIDMD RGFLSGPMGS GMRERIGSKG NQIFVRNLPF 130 140 150 160 170 180 DLTWQKLKEK FSQCGHVMFA EIKMENGKSK GCGTVRFDSP ESAEKACRIM NGIKISGREI DVRLDRNA
	Isoform 4 [UniParc]. Checksum: 7322C827DC690A50	FASTA	128	14,125
	10 20 30 40 50 60 MADANKAEVP GATGGDSPHL QPAEPPGEPR REPHPAEAEK QQPQHSSSSN GVKMENDESA 70 80 90 100 110 120 KEEKSDLKEK STGSKKANRF HPYSKDKNSG AGEKKGPNRN RVFISNIPYD MKWQAIKDLM REKGLWCG

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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, MASS SPECTROMETRY.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00292940. IPI00386418. IPI00555833. IPI00555987.
RefSeq	NP_057216.2. NM_016132.3.
UniGene	Hs.6638.
3D structure databases
ProteinModelPortal	Q9P2K5.
SMR	Q9P2K5. Positions 102-176, 226-317, 519-600.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000316950.
PTM databases
PhosphoSite	Q9P2K5.
Polymorphism databases
DMDM	296439294.
Proteomic databases
PaxDb	Q9P2K5.
PRIDE	Q9P2K5.
Protocols and materials databases
DNASU	50804.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000267836; ENSP00000267836; ENSG00000104177. ENST00000324324; ENSP00000316950; ENSG00000104177. ENST00000561151; ENSP00000452913; ENSG00000104177. ENST00000561351; ENSP00000453125; ENSG00000104177.
GeneID	50804.
KEGG	hsa:50804.
UCSC	uc001zwg.4. human. uc001zwi.4. human. uc001zwj.4. human.
Organism-specific databases
CTD	50804.
GeneCards	GC15M048434.
HGNC	HGNC:17940. MYEF2.
HPA	HPA004883.
neXtProt	NX_Q9P2K5.
PharmGKB	PA134877084.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0724.
HOVERGEN	HBG054880.
InParanoid	Q9P2K5.
OMA	HEEYRSH.
OrthoDB	EOG4VDPZN.
Gene expression databases
Bgee	Q9P2K5.
CleanEx	HS_MYEF2.
Genevestigator	Q9P2K5.
GermOnline	ENSG00000104177. Homo sapiens.
Family and domain databases
Gene3D	3.30.70.330. 3 hits.
InterPro	IPR012677. Nucleotide-bd_a/b_plait. IPR000504. RRM_dom. [Graphical view]
Pfam	PF00076. RRM_1. 3 hits. [Graphical view]
SMART	SM00360. RRM. 3 hits. [Graphical view]
PROSITE	PS50102. RRM. 3 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	50804.
NextBio	53234.

Entry information

Entry name

MYEF2_HUMAN

Accession

Primary (citable) accession number: Q9P2K5
Secondary accession number(s): A7MCZ9 , C9J921, C9K0J4, Q6NUM5, Q7L388, Q7Z4B7, Q9H922, Q9NUQ1

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 26, 2005
Last sequence update:	May 18, 2010
Last modified:	May 1, 2013
This is version 90 of the entry and version 3 of the sequence. [Complete history]

Entry status

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.