Endometriosis Knowledgebase

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Gene id

4440

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

MSI1 Gene UCSC Ensembl

Gene name

musashi RNA binding protein 1

Alternate names

RNA-binding protein Musashi homolog 1, musashi-1, musashi1,

Gene location

12q24.31 (120369179: 120339654) Exons: 21 NC_000012.12

Gene summary(Entrez)

This gene encodes a protein containing two conserved tandem RNA recognition motifs. Similar proteins in other species function as RNA-binding proteins and play central roles in posttranscriptional gene regulation. Expression of this gene has been correlated with the grade of the malignancy and proliferative activity in gliomas and melanomas. A pseudogene for this gene is located on chromosome 11q13. [provided by RefSeq, Jul 2008]

OMIM

603328

Protein Summary

Protein general information

O43347

Name: RNA binding protein Musashi homolog 1 (Musashi 1)

Length: 362 Mass: 39,125

Tissue specificity: Detected in fetal kidney, brain, liver and lung, and in adult brain and pancreas. Detected in hepatoma cell lines. {ECO

Sequence

METDAPQPGLASPDSPHDPCKMFIGGLSWQTTQEGLREYFGQFGEVKECLVMRDPLTKRSRGFGFVTFMDQAGVD
KVLAQSRHELDSKTIDPKVAFPRRAQPKMVTRTKKIFVGGLSVNTTVEDVKQYFEQFGKVDDAMLMFDKTTNRHR
GFGFVTFESEDIVEKVCEIHFHEINNKMVECKKAQPKEVMSPTGSARGRSRVMPYGMDAFMLGIGMLGYPGFQAT
TYASRSYTGLAPGYTYQFPEFRVERTPLPSAPVLPELTAIPLTAYGPMAAAAAAAAVVRGTGSHPWTMAPPPGST
PSRTGGFLGTTSPGPMAELYGAANQDSGVSSYISAASPAPSTGFGHSLGGPLIATAFTNGYH

Structural information

Protein Domains	RRM (20-110) RRM (109-186)
Interpro:	IPR034130 IPR034126 IPR000504
Prosite:	PS50102
Pfam:	PF00076
CDD:	cd12576 cd12323
MINT:	1432501
STRING:	ENSP00000257552;

Other Databases

GeneCards: MSI1; Malacards: MSI1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000166	nucleotide binding	IEA	molecular_function
GO:0003723	RNA binding	TAS	molecular_function
GO:0005634	nucleus	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005844	polysome	IEA	cellular_component
GO:0007399	nervous system developmen t	TAS	biological_process
GO:0008266	poly(U) RNA binding	IEA	molecular_function
GO:0044822	poly(A) RNA binding	IDA	molecular_function
GO:0000166	nucleotide binding	IEA	molecular_function
GO:0003676	nucleic acid binding	IEA	molecular_function
GO:0003723	RNA binding	IEA	molecular_function
GO:0003723	RNA binding	TAS	molecular_function
GO:0003727	single-stranded RNA bindi ng	IEA	molecular_function
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005844	polysome	IEA	cellular_component
GO:0007399	nervous system developmen t	TAS	biological_process
GO:0008266	poly(U) RNA binding	IEA	molecular_function
GO:0044822	poly(A) RNA binding	IDA	molecular_function
GO:0003723	RNA binding	TAS	molecular_function
GO:0007399	nervous system developmen t	TAS	biological_process
GO:0044822	poly(A) RNA binding	IDA	molecular_function

KEGG pathways

hsa03015 mRNA surveillance pathway

Diseases

Associated diseases	References
Endometrial cancer	PMID: 21751144
Endometriosis	PMID: 25162724
Endometriosis	INFBASE25162724

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
25162724	Endometrio sis			76 (36 endometr iosis patients, 40 non endomet riosis patients )	Female infertility	MSI1 CTNNB1	Show abstract