ENSG00000182004


Homo sapiens

Features
Gene ID: ENSG00000182004
  
Biological name :SNRPE
  
Synonyms : P62304 / small nuclear ribonucleoprotein polypeptide E / SNRPE
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: q32.1
Gene start: 203861603
Gene end: 203870550
  
Corresponding Affymetrix probe sets: 203316_s_at (Human Genome U133 Plus 2.0 Array)   215450_at (Human Genome U133 Plus 2.0 Array)   231112_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000400591
Ensembl peptide - ENSP00000356176
NCBI entrez gene - 6635     See in Manteia.
OMIM - 128260
RefSeq - NM_001304464
RefSeq - NM_003094
RefSeq Peptide - NP_001291393
RefSeq Peptide - NP_003085
swissprot - P62304
swissprot - A6NHK2
Ensembl - ENSG00000182004
  
Related genetic diseases (OMIM): 615059 - Hypotrichosis 11, 615059
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 snrpeENSDARG00000033175Danio rerio
 SNRPEENSGALG00000000137Gallus gallus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR001163  LSM domain, eukaryotic/archaea-type
 IPR010920  LSM domain superfamily
 IPR027078  Small nuclear ribonucleoprotein E


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000245 spliceosomal complex assembly NAS
 biological_processGO:0000387 spliceosomal snRNP assembly TAS
 biological_processGO:0000398 mRNA splicing, via spliceosome IEA
 biological_processGO:0006369 termination of RNA polymerase II transcription TAS
 biological_processGO:0006397 mRNA processing IEA
 biological_processGO:0008334 histone mRNA metabolic process TAS
 biological_processGO:0008380 RNA splicing IEA
 biological_processGO:0042633 hair cycle IMP
 biological_processGO:0051170 import into nucleus TAS
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005681 spliceosomal complex IEA
 cellular_componentGO:0005682 U5 snRNP IBA
 cellular_componentGO:0005683 U7 snRNP IDA
 cellular_componentGO:0005685 U1 snRNP IDA
 cellular_componentGO:0005686 U2 snRNP IBA
 cellular_componentGO:0005687 U4 snRNP IDA
 cellular_componentGO:0005689 U12-type spliceosomal complex IDA
 cellular_componentGO:0005697 telomerase holoenzyme complex IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0030532 small nuclear ribonucleoprotein complex NAS
 cellular_componentGO:0034709 methylosome IDA
 cellular_componentGO:0034715 pICln-Sm protein complex IDA
 cellular_componentGO:0034719 SMN-Sm protein complex IDA
 cellular_componentGO:0046540 U4/U6 x U5 tri-snRNP complex IBA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0071007 U2-type catalytic step 2 spliceosome IDA
 cellular_componentGO:0071011 precatalytic spliceosome IBA
 cellular_componentGO:0071013 catalytic step 2 spliceosome IDA
 molecular_functionGO:0003723 RNA binding IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Cleavage of Growing Transcript in the Termination Region
SLBP independent Processing of Histone Pre-mRNAs
snRNP Assembly
mRNA Splicing - Major Pathway
mRNA Splicing - Minor Pathway
SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAs


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
Show

 HP:0000535 Sparse eyebrows 
Show

 HP:0000653 Sparse eyelashes "Decreased density/number of eyelashes." [pmid:19125427]
Show

 HP:0001006 Hypotrichosis "Reduced or lacking hair growth." [HPO:curators]
Show

 HP:0001596 Alopecia "Loss of hair from the head or body." [HPO:curators]
Show

 HP:0002221 Absent axillary hair 
Show

 HP:0002231 Sparse body hair "Sparseness of the body hair." [HPO:probinson]
Show

 HP:0004782 Hypotrichosis of the scalp "Reduced or lacking hair growth of the scalp." [HPO:curators]
Show

 HP:0100840 Aplasia/Hypoplasia of the eyebrow "Absence or underdevelopment of the eyebrow." [HPO:probinson]
Show

 HP:0200102 Sparse/absent eyelashes 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr