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Aliases for SNRPE Gene

Aliases for SNRPE Gene

  • Small Nuclear Ribonucleoprotein Polypeptide E 2 3 5
  • Sm Protein E 3 4
  • SnRNP-E 3 4
  • Sm-E 3 4
  • SME 3 4
  • Small Nuclear Ribonucleoprotein E 3
  • HYPT11 3

External Ids for SNRPE Gene

Previous GeneCards Identifiers for SNRPE Gene

  • GC01P201548
  • GC01P199291
  • GC01P200191
  • GC01P201008
  • GC01P200563
  • GC01P202097
  • GC01P203831
  • GC01P174996
  • GC01P203834
  • GC01P203839

Summaries for SNRPE Gene

Entrez Gene Summary for SNRPE Gene

  • The protein encoded by this gene is a core component of U small nuclear ribonucleoproteins, which are key components of the pre-mRNA processing spliceosome. The encoded protein plays a role in the 3' end processing of histone transcripts. This protein is one of the targets in the autoimmune disease systemic lupus erythematosus, and mutations in this gene have been associated with hypotrichosis. Several pseudogenes of this gene have been identified. [provided by RefSeq, Jun 2016]

GeneCards Summary for SNRPE Gene

SNRPE (Small Nuclear Ribonucleoprotein Polypeptide E) is a Protein Coding gene. Diseases associated with SNRPE include Hypotrichosis 11 and Hypotrichosis Simplex. Among its related pathways are Formation of HIV elongation complex in the absence of HIV Tat and mRNA Splicing - Major Pathway. GO annotations related to this gene include RNA binding.

UniProtKB/Swiss-Prot for SNRPE Gene

  • 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.

Gene Wiki entry for SNRPE Gene

Additional gene information for SNRPE Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SNRPE Gene

Genomics for SNRPE Gene

Regulatory Elements for SNRPE Gene

Enhancers for SNRPE Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H204511 2 FANTOM5 Ensembl ENCODE dbSUPER 63.4 +655.5 655496 11 ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 SP3 MDM4 ZC3H11A SNRPE ZBED6 PPP1R15B PIK3C2B LOC101929459 ENSG00000236108 NFASC SNRPGP10
GH01H203526 1.4 Ensembl ENCODE dbSUPER 81 -334.8 -334768 1 HDGF PKNOX1 ZNF133 GLI4 ZNF2 ZBTB7B ZNF207 MCM3 YY2 ZNF488 ZC3H11A SNRPE MDM4 ZBED6 KLHL12 PPP1R15B KDM5B HNRNPA1P59 PRELP FMOD
GH01H203624 2 FANTOM5 Ensembl ENCODE dbSUPER 27.5 -233.4 -233406 7 HDGF PKNOX1 ARNT SIN3A YBX1 ZNF2 ZBTB7B YY1 ZNF766 ZNF302 ZC3H11A SNRPE MDM4 ZBED6 KDM5B OPTC SOX13 FMOD HNRNPA1P59 PRELP
GH01H204505 1.7 Ensembl ENCODE dbSUPER 29.4 +645.5 645513 3 MLX YBX1 DMAP1 YY1 ZNF143 ZNF548 SP3 NFYC ZFP41 SSRP1 ZC3H11A MDM4 SNRPE ZBED6 PPP1R15B RBBP5 LRRN2 PIK3C2B TRK-TTT3-2 TRK-TTT3-1
GH01H204415 2 FANTOM5 Ensembl ENCODE dbSUPER 22.8 +556.9 556935 5 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF766 PPP1R15B ZC3H11A MDM4 SNRPE ZBED6 PIK3C2B SOX13 PRELP
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SNRPE on UCSC Golden Path with GeneCards custom track

Promoters for SNRPE Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000018541 315 1801 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 SP3 MEF2D ZNF610

Genomic Location for SNRPE Gene

Chromosome:
1
Start:
203,861,585 bp from pter
End:
203,871,152 bp from pter
Size:
9,568 bases
Orientation:
Plus strand

Genomic View for SNRPE Gene

Genes around SNRPE on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SNRPE Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SNRPE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SNRPE Gene

Proteins for SNRPE Gene

  • Protein details for SNRPE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P62304-RUXE_HUMAN
    Recommended name:
    Small nuclear ribonucleoprotein E
    Protein Accession:
    P62304
    Secondary Accessions:
    • B2R5B9
    • P08578
    • Q15498
    • Q5BKT2

    Protein attributes for SNRPE Gene

    Size:
    92 amino acids
    Molecular mass:
    10804 Da
    Quaternary structure:
    • 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.
    Miscellaneous:
    • Patients with systemic lupus erythematosus produce antibodies which interact with snRNP proteins.

    Three dimensional structures from OCA and Proteopedia for SNRPE Gene

neXtProt entry for SNRPE Gene

Post-translational modifications for SNRPE Gene

  • Ubiquitination at isoforms=12 and Lys80
  • Modification sites at PhosphoSitePlus

Other Protein References for SNRPE Gene

No data available for DME Specific Peptides for SNRPE Gene

Domains & Families for SNRPE Gene

Gene Families for SNRPE Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for SNRPE Gene

Suggested Antigen Peptide Sequences for SNRPE Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P62304

UniProtKB/Swiss-Prot:

RUXE_HUMAN :
  • Belongs to the snRNP Sm proteins family.
Family:
  • Belongs to the snRNP Sm proteins family.
genes like me logo Genes that share domains with SNRPE: view

Function for SNRPE Gene

Molecular function for SNRPE Gene

GENATLAS Biochemistry:
small ribonucleoprotein,E polypeptide
UniProtKB/Swiss-Prot 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 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.

Phenotypes From GWAS Catalog for SNRPE Gene

Gene Ontology (GO) - Molecular Function for SNRPE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0005515 protein binding IPI 9417867
genes like me logo Genes that share ontologies with SNRPE: view
genes like me logo Genes that share phenotypes with SNRPE: view

Human Phenotype Ontology for SNRPE Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SNRPE
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SNRPE Gene

Localization for SNRPE Gene

Subcellular locations from UniProtKB/Swiss-Prot for SNRPE Gene

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SNRPE gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
mitochondrion 3

Gene Ontology (GO) - Cellular Components for SNRPE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 23246290
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex IEA,NAS 2974536
GO:0005682 U5 snRNP IBA --
GO:0005683 U7 snRNP IDA 11574479
genes like me logo Genes that share ontologies with SNRPE: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SNRPE Gene

Pathways & Interactions for SNRPE Gene

genes like me logo Genes that share pathways with SNRPE: view

Pathways by source for SNRPE Gene

Gene Ontology (GO) - Biological Process for SNRPE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000245 spliceosomal complex assembly NAS 2974536
GO:0000387 spliceosomal snRNP assembly TAS --
GO:0000398 mRNA splicing, via spliceosome TAS,IEA --
GO:0006369 termination of RNA polymerase II transcription TAS --
GO:0006397 mRNA processing IEA --
genes like me logo Genes that share ontologies with SNRPE: view

No data available for SIGNOR curated interactions for SNRPE Gene

Drugs & Compounds for SNRPE Gene

No Compound Related Data Available

Transcripts for SNRPE Gene

Unigene Clusters for SNRPE Gene

Small nuclear ribonucleoprotein polypeptide E:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SNRPE
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for SNRPE Gene

No ASD Table

Relevant External Links for SNRPE Gene

GeneLoc Exon Structure for
SNRPE
ECgene alternative splicing isoforms for
SNRPE

Expression for SNRPE Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SNRPE Gene

Protein differential expression in normal tissues from HIPED for SNRPE Gene

This gene is overexpressed in Pancreas (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SNRPE Gene



Protein tissue co-expression partners for SNRPE Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SNRPE Gene:

SNRPE

SOURCE GeneReport for Unigene cluster for SNRPE Gene:

Hs.334612

mRNA Expression by UniProt/SwissProt for SNRPE Gene:

P62304-RUXE_HUMAN
Tissue specificity: Widely expressed. In scalp skin, it is present in the hair follicle, the epidermis, and the dermis.

Evidence on tissue expression from TISSUES for SNRPE Gene

  • Nervous system(4.6)
  • Liver(4.5)
  • Lung(4.3)
  • Intestine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SNRPE Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
Organs:
Head and neck:
  • eye
  • eyelid
  • face
  • forehead
  • head
Limb:
  • arm
  • upper limb
General:
  • hair
  • skin
genes like me logo Genes that share expression patterns with SNRPE: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for SNRPE Gene

Orthologs for SNRPE Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SNRPE Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
Mammalia SNRPE 34
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Snrpe 34
  • 100 (a)
OneToOne
LOC102632439 33
  • 92.39 (n)
Snrpert 16
chimpanzee
(Pan troglodytes)
Mammalia SNRPEL1 34
  • 100 (a)
OneToOne
SNRPE 33
  • 99.64 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SNRPE 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 34
  • 97 (a)
OneToMany
LOC102153759 33
  • 93.84 (n)
-- 34
  • 93 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Snrpel1 33
  • 92.03 (n)
cow
(Bos Taurus)
Mammalia SNRPE 34
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves SNRPE 34
  • 100 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SNRPE 34
  • 100 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.8752 33
zebrafish
(Danio rerio)
Actinopterygii snrpe 34
  • 95 (a)
OneToOne
-- 33
fruit fly
(Drosophila melanogaster)
Insecta CG18591 35
  • 75 (a)
SmE 34
  • 73 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea snr-6 34
  • 63 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SME1 34
  • 46 (a)
OneToOne
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.2293 33
barley
(Hordeum vulgare)
Liliopsida Hv.12864 33
rice
(Oryza sativa)
Liliopsida Os.6684 33
corn
(Zea mays)
Liliopsida Zm.6883 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4575 34
  • 76 (a)
OneToOne
Species where no ortholog for SNRPE was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SNRPE Gene

ENSEMBL:
Gene Tree for SNRPE (if available)
TreeFam:
Gene Tree for SNRPE (if available)

Paralogs for SNRPE Gene

(1) SIMAP similar genes for SNRPE Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SNRPE: view

No data available for Paralogs for SNRPE Gene

Variants for SNRPE Gene

Sequence variations from dbSNP and Humsavar for SNRPE Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs587776925 Pathogenic, Hypotrichosis 11 (HYPT11) [MIM:615059] 203,863,714(+) TAGAA(A/G)GCTGT nc-transcript-variant, reference, missense
rs587776924 Pathogenic 203,861,660(+) CCACC(A/G)TGGCG nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs1000040101 -- 203,864,432(+) GGCTA(A/C)CCTAA intron-variant
rs1000066757 -- 203,868,587(+) ATTCT(G/T)AGAAG intron-variant
rs1000672610 -- 203,869,726(+) CAGAA(A/C)GCCTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SNRPE Gene

Variant ID Type Subtype PubMed ID
esv3588605 CNV loss 21293372
nsv946600 CNV duplication 23825009

Variation tolerance for SNRPE Gene

Residual Variation Intolerance Score: 48.3% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SNRPE Gene

Human Gene Mutation Database (HGMD)
SNRPE
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SNRPE

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SNRPE Gene

Disorders for SNRPE Gene

MalaCards: The human disease database

(9) MalaCards diseases for SNRPE Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hypotrichosis 11
  • hypt11
hypotrichosis simplex
  • hhs
hypotrichosis
rubeosis iridis
nodular nonsuppurative panniculitis
  • nodular non-suppurative febrile panniculitis
- elite association - COSMIC cancer census association via MalaCards
Search SNRPE in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RUXE_HUMAN
  • 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.

Relevant External Links for SNRPE

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SNRPE
genes like me logo Genes that share disorders with SNRPE: view

No data available for Genatlas for SNRPE Gene

Publications for SNRPE Gene

  1. Assignment of the gene for the small nuclear ribonucleoprotein E (SNRPE) to human chromosome 1q25-q43. (PMID: 2143747) Neiswanger K … Wieben ED (Genomics 1990) 2 3 22 60
  2. Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex. (PMID: 23246290) Pasternack SM … Betz RC (American journal of human genetics 2013) 3 4 60
  3. Structure of the spliceosomal U4 snRNP core domain and its implication for snRNP biogenesis. (PMID: 21516107) Leung AK … Li J (Nature 2011) 3 4 60
  4. An assembly chaperone collaborates with the SMN complex to generate spliceosomal SnRNPs. (PMID: 18984161) Chari A … Fischer U (Cell 2008) 3 4 60
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60

Products for SNRPE Gene

Sources for SNRPE Gene

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