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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
  • HYPT11 3
  • B-Raf 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

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 Gene Expression and Regulation of Glucokinase by Glucokinase Regulatory Protein. 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 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.

Gene Wiki entry for SNRPE Gene

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

Genomics for SNRPE Gene

Regulatory Elements for SNRPE Gene

Promoters for SNRPE Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SNRPE on UCSC Golden Path with GeneCards custom track

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 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.
    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

Proteomics data for SNRPE Gene at MOPED

Post-translational modifications for SNRPE Gene

  • Ubiquitination at Lys 12 and Lys 80
  • Modification sites at PhosphoSitePlus

Other Protein References for SNRPE Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for SNRPE

No data available for DME Specific Peptides for SNRPE Gene

Domains & Families for SNRPE Gene

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

No data available for Gene Families for SNRPE Gene

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 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.
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for SNRPE Gene COMPARTMENTS Subcellular localization image for SNRPE gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 5
mitochondrion 3

Gene Ontology (GO) - Cellular Components for SNRPE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0005685 U1 snRNP IDA 21113136
GO:0005686 U2 snRNP IBA --
GO:0005689 U12-type spliceosomal complex IDA 15146077
GO:0034709 methylosome IDA 18984161
genes like me logo Genes that share ontologies with SNRPE: view

Pathways & Interactions for SNRPE Gene

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

Pathways by source for SNRPE Gene

1 KEGG pathway 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:0006366 transcription from RNA polymerase II promoter TAS --
GO:0042633 hair cycle IMP 23246290
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:

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 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, MOPED, and MaxQB for SNRPE Gene



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.
genes like me logo Genes that share expression patterns with SNRPE: view

Protein tissue co-expression partners for SNRPE Gene

- Elite partner

Primer Products

In Situ Assay 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
dog
(Canis familiaris)
Mammalia LOC102153759 35
  • 93.84 (n)
  • 96.74 (a)
-- 36
  • 97 (a)
OneToMany
-- 36
  • 93 (a)
OneToMany
mouse
(Mus musculus)
Mammalia LOC102632439 35
  • 92.39 (n)
  • 97.83 (a)
Snrpert 16
Snrpe 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SNRPE 35
  • 99.64 (n)
  • 100 (a)
SNRPEL1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Snrpel1 35
  • 92.03 (n)
  • 98.91 (a)
cow
(Bos Taurus)
Mammalia SNRPE 36
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SNRPE 36
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SNRPE 36
  • 99 (a)
OneToOne
chicken
(Gallus gallus)
Aves SNRPE 36
  • 100 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SNRPE 36
  • 100 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.8752 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
snrpe 36
  • 95 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG18591 37
  • 75 (a)
SmE 36
  • 73 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea snr-6 36
  • 63 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SME1 36
  • 46 (a)
OneToOne
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.2293 35
barley
(Hordeum vulgare)
Liliopsida Hv.12864 35
rice
(Oryza sativa)
Liliopsida Os.6684 35
corn
(Zea mays)
Liliopsida Zm.6883 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4575 36
  • 76 (a)
OneToOne
Species with no ortholog for SNRPE:
  • 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
VAR_069619 Hypotrichosis 11 (HYPT11)
rs1804443 -- 203,870,048(+) CAAGA(G/T)GGCAA nc-transcript-variant, utr-variant-3-prime
rs1804444 -- 203,870,035(+) CCTCG(C/T)GTTAC nc-transcript-variant, utr-variant-3-prime
rs2298870 -- 203,870,145(+) CGTTG(C/T)TGGTA nc-transcript-variant, utr-variant-3-prime
rs2298871 -- 203,870,373(+) ACCTA(A/C)ATACG nc-transcript-variant, utr-variant-3-prime

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

HapMap Linkage Disequilibrium report
SNRPE
Human Gene Mutation Database (HGMD)
SNRPE

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SNRPE Gene

Disorders for SNRPE Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
hypotrichosis 11
  • hypt11
hypotrichosis simplex
  • hhs
rubeosis iridis
nodular nonsuppurative panniculitis
  • nodular non-suppurative febrile panniculitis
hypotrichosis
- 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 E.D. (Genomics 1990) 2 3 23 67
  2. Branchpoint selection in the splicing of U12-dependent introns in vitro. (PMID: 12022225) McConnell T.S. … Steitz J.A. (RNA 2002) 3 23
  3. B-raf oncogene: activation by rearrangements and assignment to human chromosome 7. (PMID: 8098025) Kamiyama T. … Yuasa Y. (Jpn. J. Cancer Res. 1993) 3 23
  4. Transcriptional regulation of the small nuclear ribonucleoprotein E protein gene. Identification of cis-acting sequences with homology to genes encoding ribosomal proteins. (PMID: 1835977) Fautsch M.P. … Wieben E.D. (J. Biol. Chem. 1991) 2 3
  5. Control of a neuronal morphology program by an RNA-binding zinc finger protein, Unkempt. (PMID: 25737280) Murn J. … Shi Y. (Genes Dev. 2015) 3

Products for SNRPE Gene

Sources for SNRPE Gene

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