Reviewed, UniProtKB/Swiss-Prot Q96DH6 (MSI2H_HUMAN)

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)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	328 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
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	Phosphoprotein
Gene Ontology (GO)
Cellular component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	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 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: Phosphorylated on Ser-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. 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. 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: 14702039] [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: 15489334] [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: 12649177] [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: 18691976] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-14 (ISOFORM 2), MASS SPECTROMETRY.
[5]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBLGenBankDDBJ	BC001526 mRNA. Translation: AAH01526.1. BC017560 mRNA. Translation: AAH17560.1. AK093888 mRNA. Translation: BAC04244.1.
IPI	IPI00073713. IPI00167806. IPI00455161.
RefSeq	NP_620412.1. NP_733839.1.
UniGene	Hs.658922
3D structure databases
HSSP	HSSP built from PDB template 2MST based on UniProtKB Q61474.
ModBase	Search...
Proteomic databases
PRIDE	Q96DH6.
Genome annotation databases
Ensembl	ENSG00000153944. Homo sapiens. [Contig view]
GeneID	124540.
KEGG	hsa:124540.
Organism-specific databases
GeneCards	GC17P052688.
HGNC	HGNC:18585. MSI2.
MIM	607897. gene.
PharmGKB	PA38590.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q96DH6.
HOVERGEN	Q96DH6.
OMA	Q96DH6. GMLXFPA.
Gene expression databases
ArrayExpress	Q96DH6.
Bgee	Q96DH6.
CleanEx	HS_MSI2.
GermOnline	ENSG00000153944. Homo sapiens.
Family and domain databases
InterPro	IPR012677. a_b_plait_nuc_bd. IPR000504. RRM_RNP1. [Graphical view]
Gene3D	G3DSA:3.30.70.330. a_b_plait_nuc_bd. 2 hits.
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 Resources
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:	June 16, 2009
This is version 57 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)