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Protein

Small nuclear ribonucleoprotein E

Gene

SNRPE

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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 a 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.3 Publications

Miscellaneous

Patients with systemic lupus erythematosus produce antibodies which interact with snRNP proteins.

GO - Molecular functioni

GO - Biological processi

  • hair cycle Source: UniProtKB
  • histone mRNA metabolic process Source: Reactome
  • import into nucleus Source: Reactome
  • mRNA splicing, via spliceosome Source: Reactome
  • spliceosomal complex assembly Source: UniProtKB
  • spliceosomal snRNP assembly Source: UniProtKB
  • termination of RNA polymerase II transcription Source: Reactome

Keywordsi

Molecular functionRibonucleoprotein, RNA-binding
Biological processmRNA processing, mRNA splicing

Enzyme and pathway databases

ReactomeiR-HSA-109688 Cleavage of Growing Transcript in the Termination Region
R-HSA-111367 SLBP independent Processing of Histone Pre-mRNAs
R-HSA-191859 snRNP Assembly
R-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-72165 mRNA Splicing - Minor Pathway
R-HSA-77588 SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAs

Names & Taxonomyi

Protein namesi
Recommended name:
Small nuclear ribonucleoprotein E
Short name:
snRNP-E
Alternative name(s):
Sm protein E
Short name:
Sm-E
Short name:
SmE
Gene namesi
Name:SNRPE
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000182004.12
HGNCiHGNC:11161 SNRPE
MIMi128260 gene
neXtProtiNX_P62304

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus, Spliceosome

Pathology & Biotechi

Involvement in diseasei

Hypotrichosis 11 (HYPT11)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:615059
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06961945G → S in HYPT11; does not affect subcellular localization. 1 PublicationCorresponds to variant dbSNP:rs587776925EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Hypotrichosis

Organism-specific databases

DisGeNETi6635
MalaCardsiSNRPE
MIMi615059 phenotype
OpenTargetsiENSG00000182004
Orphaneti55654 Hypotrichosis simplex
PharmGKBiPA36002

Polymorphism and mutation databases

BioMutaiSNRPE
DMDMi61237380

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001255291 – 92Small nuclear ribonucleoprotein EAdd BLAST92

Proteomic databases

EPDiP62304
MaxQBiP62304
PaxDbiP62304
PeptideAtlasiP62304
PRIDEiP62304
ProteomicsDBi57386
TopDownProteomicsiP62304

PTM databases

iPTMnetiP62304
PhosphoSitePlusiP62304

Expressioni

Tissue specificityi

Widely expressed. In scalp skin, it is present in the hair follicle, the epidermis, and the dermis.1 Publication

Gene expression databases

BgeeiENSG00000182004
CleanExiHS_SNRPE
ExpressionAtlasiP62304 baseline and differential
GenevisibleiP62304 HS

Interactioni

Subunit structurei

U1 snRNP is for instance composed of the 7 core Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a 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.5 Publications

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi112519, 152 interactors
CORUMiP62304
DIPiDIP-31220N
IntActiP62304, 42 interactors
MINTiP62304
STRINGi9606.ENSP00000400591

Structurei

Secondary structure

192
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi17 – 27Combined sources11
Beta strandi30 – 37Combined sources8
Beta strandi39 – 50Combined sources12
Beta strandi56 – 68Combined sources13
Beta strandi71 – 79Combined sources9
Helixi81 – 83Combined sources3
Beta strandi84 – 89Combined sources6

3D structure databases

ProteinModelPortaliP62304
SMRiP62304
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP62304

Family & Domainsi

Sequence similaritiesi

Belongs to the snRNP Sm proteins family.Curated

Phylogenomic databases

eggNOGiKOG1774 Eukaryota
COG1958 LUCA
GeneTreeiENSGT00390000012818
HOVERGENiHBG003229
InParanoidiP62304
KOiK11097
OMAiFDEFMNI
OrthoDBiEOG091G0JFB
PhylomeDBiP62304
TreeFamiTF314419

Family and domain databases

CDDicd01718 Sm_E, 1 hit
InterProiView protein in InterPro
IPR001163 LSM_dom_euk/arc
IPR010920 LSM_dom_sf
IPR027078 snRNP-E
PANTHERiPTHR11193 PTHR11193, 1 hit
PfamiView protein in Pfam
PF01423 LSM, 1 hit
SMARTiView protein in SMART
SM00651 Sm, 1 hit
SUPFAMiSSF50182 SSF50182, 1 hit

Sequencei

Sequence statusi: Complete.

P62304-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAYRGQGQKV QKVMVQPINL IFRYLQNRSR IQVWLYEQVN MRIEGCIIGF
60 70 80 90
DEYMNLVLDD AEEIHSKTKS RKQLGRIMLK GDNITLLQSV SN
Length:92
Mass (Da):10,804
Last modified:July 5, 2004 - v1
Checksum:i7D8881CE1F4FA2FD
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06961945G → S in HYPT11; does not affect subcellular localization. 1 PublicationCorresponds to variant dbSNP:rs587776925EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M37716 mRNA Translation: AAA90926.1
M15919 mRNA Translation: AAA36621.1
X12466 mRNA Translation: CAA31007.1
AK312130 mRNA Translation: BAG35066.1
CH471067 Genomic DNA Translation: EAW91494.1
BC002639 mRNA Translation: AAH02639.1
BC090951 mRNA Translation: AAH90951.1
M21258, M21253 Genomic DNA Translation: AAB59365.1 Sequence problems.
CCDSiCCDS30979.1
PIRiA32127
RefSeqiNP_001291393.1, NM_001304464.1
NP_001315566.1, NM_001328637.1
NP_001315567.1, NM_001328638.1
NP_003085.1, NM_003094.3
UniGeneiHs.334612
Hs.654418

Genome annotation databases

EnsembliENST00000414487; ENSP00000400591; ENSG00000182004
GeneIDi6635
KEGGihsa:6635
UCSCiuc001hai.4 human

Similar proteinsi

Entry informationi

Entry nameiRUXE_HUMAN
AccessioniPrimary (citable) accession number: P62304
Secondary accession number(s): B2R5B9
, P08578, Q15498, Q5BKT2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1988
Last sequence update: July 5, 2004
Last modified: July 18, 2018
This is version 145 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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