InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SNRPE

Summary

InnateDB Protein

IDBP-389919.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SNRPE

Protein Name

small nuclear ribonucleoprotein polypeptide E

Synonyms

B-raf; HYPT11; Sm-E; SME;

Species

Homo sapiens

Ensembl Protein

ENSP00000400591

InnateDB Gene

IDBG-105992 (SNRPE)

Protein Structure

UniProt Annotation

Function

Core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in an heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. As part of the U7 snRNP it is involved in histone 3'-end processing. May indirectly play a role in hair development. {ECO:0000269PubMed:18984161, ECO:0000269PubMed:23246290, ECO:0000269PubMed:23333303}.

Subcellular Localization

Cytoplasm, cytosol. Nucleus. Note=SMN- mediated assembly into core snRNPs occurs in the cytosol before SMN-mediated transport to the nucleus to be included in spliceosomes.

Disease Associations

Hypotrichosis 11 (HYPT11) [MIM:615059]: A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT11 is characterized by scanty or absent eyebrows and a highly variable degree of alopecia since birth, ranging from slight thinning of scalp and axillary hair to complete loss of scalp and body hair. Pubic hair remains mainly unaffected. {ECO:0000269PubMed:23246290}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed. In scalp skin, it is present in the hair follicle, the epidermis, and the dermis. {ECO:0000269PubMed:23246290}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 69 experimentally validated interaction(s) in this database.

Experimentally validated
Total	69 [view]
Protein-Protein	69 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003723	RNA binding
GO:0005515	protein binding

Biological Process

GO:0000245	spliceosomal complex assembly
GO:0000387	spliceosomal snRNP assembly
GO:0000398	mRNA splicing, via spliceosome
GO:0006366	transcription from RNA polymerase II promoter
GO:0006369	termination of RNA polymerase II transcription
GO:0008334	histone mRNA metabolic process
GO:0008380	RNA splicing
GO:0010467	gene expression
GO:0016070	RNA metabolic process
GO:0031124	mRNA 3'-end processing
GO:0034660	ncRNA metabolic process
GO:0042633	hair cycle

Cellular Component

GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005681	spliceosomal complex
GO:0005683	U7 snRNP
GO:0005685	U1 snRNP
GO:0005687	U4 snRNP
GO:0005689	U12-type spliceosomal complex
GO:0005829	cytosol
GO:0030532	small nuclear ribonucleoprotein complex
GO:0034709	methylosome
GO:0034715	pICln-Sm protein complex
GO:0034719	SMN-Sm protein complex
GO:0070062	extracellular vesicular exosome
GO:0071013	catalytic step 2 spliceosome