Q96DH6 (MSI2H_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
RNA-binding protein Musashi homolog 2
Short name=Musashi-2

Gene names

Name:

MSI2

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	328 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	RNA binding protein that regulates the expression of target mRNAs at the translation level. May play a role in the proliferation and maintenance of stem cells in the central nervous system By similarity.
Subcellular location	Cytoplasm. Note: Associated with polysomes By similarity.
Tissue specificity	Ubiquitous; detected at low levels. Ref.3
Induction	Up-regulated in astrocytes after brain injury By similarity.
Post-translational modification	Phosphorylated By similarity.
Involvement in disease	Chromosomal aberrations involving MSI2 may contribute to disease progression in chronic myeloid leukemia. Translocation t(7;17)(p15;q23) with HOXA9; translocation t(7;17)(q32-34;q23).
Sequence similarities	Belongs to the Musashi family. Contains 2 RRM (RNA recognition motif) domains.

Ontologies

Keywords
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing Chromosomal rearrangement
Domain	Repeat
Ligand	RNA-binding
PTM	Acetylation Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	stem cell development Inferred from electronic annotation. Source: Compara
Cellular_component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell polysome Inferred from electronic annotation. Source: Compara
Molecular_function	nucleotide binding Inferred from electronic annotation. Source: InterPro poly(U) RNA binding Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q96DH6-1)

Also known as: A;

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: Q96DH6-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-21: MEANGSQGTSGSANDSQHDPG → MADLTSVLTSVMFSPSS
     243-255: GFPAAAYGPVAAA → DYLPVSQDIIFIN
     256-328: Missing.

Note: Initiator Met-1 is removed. Contains a N-acetylalanine at position 2. Contains a phosphoserine at position 14.

Isoform 3 (identifier: Q96DH6-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-104: Missing.
     243-255: GFPAAAYGPVAAA → DYLPVSQDIIFIN
     256-328: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 328	328	RNA-binding protein Musashi homolog 2		PRO_0000081652
Regions
	Domain	21 – 111	91	RRM 1
	Domain	110 – 187	78	RRM 2
	Compositional bias	253 – 260	8	Poly-Ala
Sites
	Site	217 – 218	2	Breakpoint for translocation to form MSI2/HOXA9 fusion protein
Natural variations
	Alternative sequence	1 – 104	104	Missing in isoform 3.		VSP_011169
	Alternative sequence	1 – 21	21	MEANG…QHDPG → MADLTSVLTSVMFSPSS in isoform 2.		VSP_011168
	Alternative sequence	243 – 255	13	GFPAA…PVAAA → DYLPVSQDIIFIN in isoform 2 and isoform 3.		VSP_011170
	Alternative sequence	256 – 328	73	Missing in isoform 2 and isoform 3.		VSP_011171

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (A) [UniParc]. Last modified December 1, 2001. Version 1. Checksum: 6E2FC929491748A2	FASTA	328	35,197
	10 20 30 40 50 60 MEANGSQGTS GSANDSQHDP GKMFIGGLSW QTSPDSLRDY FSKFGEIREC MVMRDPTTKR 70 80 90 100 110 120 SRGFGFVTFA DPASVDKVLG QPHHELDSKT IDPKVAFPRR AQPKMVTRTK KIFVGGLSAN 130 140 150 160 170 180 TVVEDVKQYF EQFGKVEDAM LMFDKTTNRH RGFGFVTFEN EDVVEKVCEI HFHEINNKMV 190 200 210 220 230 240 ECKKAQPKEV MFPPGTRGRA RGLPYTMDAF MLGMGMLGYP NFVATYGRGY PGFAPSYGYQ 250 260 270 280 290 300 FPGFPAAAYG PVAAAAVAAA RGSGSNPARP GGFPGANSPG PVADLYGPAS QDSGVGNYIS 310 320 AASPQPGSGF GHGIAGPLIA TAFTNGYH
	Isoform 2 [UniParc]. Checksum: 288CBB2F6E0A2870	FASTA	251	28,421
	10 20 30 40 50 60 MADLTSVLTS VMFSPSSKMF IGGLSWQTSP DSLRDYFSKF GEIRECMVMR DPTTKRSRGF 70 80 90 100 110 120 GFVTFADPAS VDKVLGQPHH ELDSKTIDPK VAFPRRAQPK MVTRTKKIFV GGLSANTVVE 130 140 150 160 170 180 DVKQYFEQFG KVEDAMLMFD KTTNRHRGFG FVTFENEDVV EKVCEIHFHE INNKMVECKK 190 200 210 220 230 240 AQPKEVMFPP GTRGRARGLP YTMDAFMLGM GMLGYPNFVA TYGRGYPGFA PSYGYQFPDY 250 LPVSQDIIFI N
	Isoform 3 [UniParc]. Checksum: F05CDAD5A60DC5B1	FASTA	151	17,238
	10 20 30 40 50 60 MVTRTKKIFV GGLSANTVVE DVKQYFEQFG KVEDAMLMFD KTTNRHRGFG FVTFENEDVV 70 80 90 100 110 120 EKVCEIHFHE INNKMVECKK AQPKEVMFPP GTRGRARGLP YTMDAFMLGM GMLGYPNFVA 130 140 150 TYGRGYPGFA PSYGYQFPDY LPVSQDIIFI N

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"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] (ISOFORM 2). Tissue: Trachea.
[2]	"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 3). Tissue: Placenta and Skin.
[3]	"A novel gene, MSI2, encoding a putative RNA-binding protein is recurrently rearranged at disease progression of chronic myeloid leukemia and forms a fusion gene with HOXA9 as a result of the cryptic t(7;17)(p15;q23)." Barbouti A., Hoeglund M., Johansson B., Lassen C., Nilsson P.-G., Hagemeijer A., Mitelman F., Fioretos T. Cancer Res. 63:1202-1206(2003) [PubMed] [Europe PMC] [Abstract] Cited for: CHROMOSOMAL TRANSLOCATION WITH HOXA9, TISSUE SPECIFICITY.
[4]	"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma.
[5]	"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2 (ISOFORM 2), PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-14 (ISOFORM 2), MASS SPECTROMETRY, CLEAVAGE OF INITIATOR METHIONINE. Tissue: Cervix carcinoma.
[6]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBL GenBank DDBJ	BC001526 mRNA. Translation: AAH01526.1. BC017560 mRNA. Translation: AAH17560.1. AK093888 mRNA. Translation: BAC04244.1.
IPI	IPI00073713. IPI00167806. IPI00455161.
RefSeq	NP_620412.1. NM_138962.2. NP_733839.1. NM_170721.1.
UniGene	Hs.658922.
3D structure databases
ProteinModelPortal	Q96DH6.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q96DH6. 3 interactions.
STRING	9606.ENSP00000284073.
PTM databases
PhosphoSite	Q96DH6.
Polymorphism databases
DMDM	51316513.
Proteomic databases
PaxDb	Q96DH6.
PRIDE	Q96DH6.
Protocols and materials databases
DNASU	124540.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000284073; ENSP00000284073; ENSG00000153944. ENST00000322684; ENSP00000313616; ENSG00000153944. ENST00000579180; ENSP00000462264; ENSG00000153944.
GeneID	124540.
KEGG	hsa:124540.
UCSC	uc002iuz.1. human. uc002iva.3. human.
Organism-specific databases
CTD	124540.
GeneCards	GC17P055334.
HGNC	HGNC:18585. MSI2.
HPA	CAB022300.
MIM	607897. gene.
neXtProt	NX_Q96DH6.
PharmGKB	PA38590.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0724.
HOGENOM	HOG000234441.
HOVERGEN	HBG002295.
InParanoid	Q96DH6.
KO	K14411.
OMA	ISDCTIM.
OrthoDB	EOG48GW3J.
PhylomeDB	Q96DH6.
Gene expression databases
ArrayExpress	Q96DH6.
Bgee	Q96DH6.
CleanEx	HS_MSI2.
Genevestigator	Q96DH6.
GermOnline	ENSG00000153944. Homo sapiens.
Family and domain databases
Gene3D	3.30.70.330. 2 hits.
InterPro	IPR012677. Nucleotide-bd_a/b_plait. IPR000504. RRM_dom. [Graphical view]
Pfam	PF00076. RRM_1. 2 hits. [Graphical view]
SMART	SM00360. RRM. 2 hits. [Graphical view]
PROSITE	PS50102. RRM. 2 hits. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	MSI2. human.
GenomeRNAi	124540.
NextBio	81316.
SOURCE	Search...

Entry information

Entry name

MSI2H_HUMAN

Accession

Primary (citable) accession number: Q96DH6
Secondary accession number(s): Q7Z6M7, Q8N9T4

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 16, 2004
Last sequence update:	December 1, 2001
Last modified:	May 1, 2013
This is version 93 of the entry and version 1 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.