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Aliases for NELFE Gene

Aliases for NELFE Gene

  • Negative Elongation Factor Complex Member E 2 3 5
  • RD RNA-Binding Protein 2 3
  • RD RNA Binding Protein 2 3
  • RNA-Binding Protein RD 3 4
  • NELF-E 3 4
  • RDBP 3 4
  • RD 3 4
  • Major Histocompatibility Complex Gene RD 3
  • Negative Elongation Factor Polypeptide E 3
  • Nuclear Protein 3
  • D6S45 3
  • RDP 3

External Ids for NELFE Gene

Previous HGNC Symbols for NELFE Gene

  • RDBP

Previous GeneCards Identifiers for NELFE Gene

  • GC06M031925
  • GC06M031926

Summaries for NELFE Gene

Entrez Gene Summary for NELFE Gene

  • The protein encoded by this gene is part of a complex termed negative elongation factor (NELF) which represses RNA polymerase II transcript elongation. This protein bears similarity to nuclear RNA-binding proteins; however, it has not been demonstrated that this protein binds RNA. The protein contains a tract of alternating basic and acidic residues, largely arginine (R) and aspartic acid (D). The gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. [provided by RefSeq, Jul 2008]

GeneCards Summary for NELFE Gene

NELFE (Negative Elongation Factor Complex Member E) is a Protein Coding gene. Diseases associated with NELFE include Dystonia-12 and Alternating Hemiplegia Of Childhood 2. Among its related pathways are Formation of the HIV-1 Early Elongation Complex and Gene Expression. GO annotations related to this gene include nucleic acid binding and RNA binding.

UniProtKB/Swiss-Prot for NELFE Gene

  • Essential component of the NELF complex, a complex that negatively regulates the elongation of transcription by RNA polymerase II. The NELF complex, which acts via an association with the DSIF complex and causes transcriptional pausing, is counteracted by the P-TEFb kinase complex.

Gene Wiki entry for NELFE Gene

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

Genomics for NELFE Gene

Regulatory Elements for NELFE Gene

Enhancers for NELFE Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around NELFE on UCSC Golden Path with GeneCards custom track

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

ENSRs around NELFE on UCSC Golden Path with GeneCards custom track

Genomic Location for NELFE Gene

Chromosome:
6
Start:
31,952,087 bp from pter
End:
31,959,110 bp from pter
Size:
7,024 bases
Orientation:
Minus strand

Genomic View for NELFE Gene

Genes around NELFE on UCSC Golden Path with GeneCards custom track

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

Proteins for NELFE Gene

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

    Protein Symbol:
    P18615-NELFE_HUMAN
    Recommended name:
    Negative elongation factor E
    Protein Accession:
    P18615
    Secondary Accessions:
    • A2BE08
    • B4DUN1
    • B4DYX9
    • Q5JP74
    • Q5JP75
    • Q96F56
    • Q9NPK2

    Protein attributes for NELFE Gene

    Size:
    380 amino acids
    Molecular mass:
    43240 Da
    Quaternary structure:
    • The NELF complex is composed of NELFA, NELFB, NELFCD (isoform NELF-C or isoform NELF-D) and NELFE.

    Three dimensional structures from OCA and Proteopedia for NELFE Gene

    Alternative splice isoforms for NELFE Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NELFE Gene

Proteomics data for NELFE Gene at MOPED

Post-translational modifications for NELFE Gene

No data available for DME Specific Peptides for NELFE Gene

Domains & Families for NELFE Gene

Gene Families for NELFE Gene

Protein Domains for NELFE Gene

Graphical View of Domain Structure for InterPro Entry

P18615

UniProtKB/Swiss-Prot:

NELFE_HUMAN :
  • The RRM domain interacts with RNA, and is essential for NELF complex function. It is however not required for the NELF complex formation.
  • Belongs to the RRM NELF-E family.
Domain:
  • The RRM domain interacts with RNA, and is essential for NELF complex function. It is however not required for the NELF complex formation.
  • Contains 1 RRM (RNA recognition motif) domain.
Family:
  • Belongs to the RRM NELF-E family.
genes like me logo Genes that share domains with NELFE: view

Function for NELFE Gene

Molecular function for NELFE Gene

UniProtKB/Swiss-Prot Function:
Essential component of the NELF complex, a complex that negatively regulates the elongation of transcription by RNA polymerase II. The NELF complex, which acts via an association with the DSIF complex and causes transcriptional pausing, is counteracted by the P-TEFb kinase complex.

Gene Ontology (GO) - Molecular Function for NELFE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003682 chromatin binding IEA --
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with NELFE: view
genes like me logo Genes that share phenotypes with NELFE: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NELFE Gene

Localization for NELFE Gene

Subcellular locations from UniProtKB/Swiss-Prot for NELFE Gene

No data available for Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for NELFE Gene

Pathways & Interactions for NELFE Gene

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

Gene Ontology (GO) - Biological Process for NELFE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006366 transcription from RNA polymerase II promoter TAS --
GO:0008150 biological_process ND --
GO:0010467 gene expression TAS --
GO:0051571 positive regulation of histone H3-K4 methylation IEA --
genes like me logo Genes that share ontologies with NELFE: view

No data available for SIGNOR curated interactions for NELFE Gene

Drugs & Compounds for NELFE Gene

No Compound Related Data Available

Transcripts for NELFE Gene

Unigene Clusters for NELFE Gene

Negative elongation factor complex member E:
Representative Sequences:

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

No ASD Table

Relevant External Links for NELFE Gene

GeneLoc Exon Structure for
NELFE
ECgene alternative splicing isoforms for
NELFE

Expression for NELFE Gene

mRNA expression in normal human tissues for NELFE Gene

Protein differential expression in normal tissues from HIPED for NELFE Gene

This gene is overexpressed in Breast (10.9), Liver (10.5), and Adrenal (7.4).

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



SOURCE GeneReport for Unigene cluster for NELFE Gene Hs.423935

mRNA Expression by UniProt/SwissProt for NELFE Gene

P18615-NELFE_HUMAN
Tissue specificity: Widely expressed. Expressed in heart, brain, lung, placenta, liver, skeletal muscle, kidney and pancreas.
genes like me logo Genes that share expression patterns with NELFE: view

Protein tissue co-expression partners for NELFE Gene

- Elite partner

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 NELFE Gene

Orthologs for NELFE Gene

This gene was present in the common ancestor of animals.

Orthologs for NELFE Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NELFE 35
  • 92.95 (n)
  • 97.71 (a)
NELFE 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NELFE 35
  • 91 (n)
  • 96.26 (a)
NELFE 36
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nelfe 35
  • 87.47 (n)
  • 92.64 (a)
Nelfe 16
Nelfe 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NELFE 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NELFE 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RDBP 36
  • 99 (a)
OneToOne
chicken
(Gallus gallus)
Aves NELFE 36
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NELFE 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nelfe 35
  • 69.03 (n)
  • 73.55 (a)
Str.7146 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.8914 35
zebrafish
(Danio rerio)
Actinopterygii Dr.25733 35
nelfe 36
  • 70 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Nelf-E 36
  • 36 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.554 36
  • 31 (a)
OneToOne
Species with no ortholog for NELFE:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • 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)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for NELFE Gene

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

Paralogs for NELFE Gene

(3) SIMAP similar genes for NELFE Gene using alignment to 9 proteins:

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

No data available for Paralogs for NELFE Gene

Variants for NELFE Gene

Sequence variations from dbSNP and Humsavar for NELFE Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1265906 -- 31,956,220(-) cgggc(A/G)cggtg intron-variant
rs1804283 -- 31,954,382(-) ATATG(G/T)AGAAG reference, missense
rs11546696 -- 31,955,275(-) GACCA(A/G)TCCCC reference, missense
rs2072632 -- 31,953,698(-) ATCCT(C/T)TCCCC intron-variant
rs11756465 -- 31,955,766(+) CATTG(G/T)GGCTT intron-variant

Variation tolerance for NELFE Gene

Residual Variation Intolerance Score: 31.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.83; 47.82% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Relevant External Links for NELFE Gene

Disorders for NELFE Gene

MalaCards: The human disease database

(4) MalaCards diseases for NELFE Gene - From: OMIM and DISEASES

Disorder Aliases PubMed IDs
dystonia-12
  • dystonia 12
alternating hemiplegia of childhood 2
  • ahc2
capos syndrome
  • capos
macular degeneration, age-related, 1
  • macular degeneration, age-related, 2
- elite association - COSMIC cancer census association via MalaCards
Search NELFE in MalaCards View complete list of genes associated with diseases

Relevant External Links for NELFE

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

No data available for UniProtKB/Swiss-Prot and Genatlas for NELFE Gene

Publications for NELFE Gene

  1. The human RD protein is closely related to nuclear RNA-binding proteins and has been highly conserved. (PMID: 2119325) Surowy C.S. … Spritz R.A. (Gene 1990) 3 4 23 67
  2. Role of RDBP and SKIV2L variants in the major histocompatibility complex class III region in polypoidal choroidal vasculopathy etiology. (PMID: 19556007) Kondo N. … Negi A. (Ophthalmology 2009) 3 23
  3. Human transcription elongation factor NELF: identification of novel subunits and reconstitution of the functionally active complex. (PMID: 12612062) Narita T. … Handa H. (Mol. Cell. Biol. 2003) 3 23
  4. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for NELFE Gene

Sources for NELFE Gene

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