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MGP Database

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MGP002942

UniProt Annotations

Entry Information

Gene Name	small nuclear ribonucleoprotein polypeptide E
Protein Entry
UniProt ID
Species	Human

Comments

Comment type	Description
Disease	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:0000269\|PubMed:23246290}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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:0000269\|PubMed:18984161, ECO:0000269\|PubMed:23246290, ECO:0000269\|PubMed:23333303}.
Interaction	Q8TEQ6:GEMIN5; NbExp=2; IntAct=EBI-348082, EBI-443630; P62306:SNRPF; NbExp=4; IntAct=EBI-348082, EBI-356900; P62308:SNRPG; NbExp=4; IntAct=EBI-348082, EBI-624585;
Miscellaneous	Patients with systemic lupus erythematosus produce antibodies which interact with snRNP proteins.
Similarity	Belongs to the snRNP Sm proteins family. {ECO:0000305}.
Subcellular Location	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.
Subunit	U1 snRNP is for instance composed of the 7 core 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, and at least three U1 snRNP-specific proteins SNRNP70/U1-70K, SNRPA/U1-A and SNRPC/U1-C. Component of the U11/U12 snRNPs that are part of the U12-type spliceosome. Component of the heptameric ring U7 snRNP complex, or U7 Sm protein core complex, at least composed of LSM10, LSM11, SNRPB, SNRPD3, SNRPE, SNRPF, SNRPG and U7 snRNA. Part of the SMN- Sm complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8, STRAP/UNRIP and the Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG; catalyzes core snRNPs assembly. Forms a 6S pICln-Sm complex composed of CLNS1A/pICln, SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG; ring-like structure where CLNS1A/pICln mimics additional Sm proteins and which is unable to assemble into the core snRNP. {ECO:0000269\|PubMed:11574479, ECO:0000269\|PubMed:11991638, ECO:0000269\|PubMed:15146077, ECO:0000269\|PubMed:18984161, ECO:0000269\|PubMed:23333303}.
Tissue Specificity	Widely expressed. In scalp skin, it is present in the hair follicle, the epidermis, and the dermis. {ECO:0000269\|PubMed:23246290}.