Human Gene NELFE (ENST00000375429.8_10) from GENCODE V47lift37
  Description: negative elongation factor complex member E (from RefSeq NM_002904.6)
Gencode Transcript: ENST00000375429.8_10
Gencode Gene: ENSG00000204356.14_14
Transcript (Including UTRs)
   Position: hg19 chr6:31,919,864-31,926,748 Size: 6,885 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg19 chr6:31,920,078-31,926,223 Size: 6,146 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:31,919,864-31,926,748)mRNA (may differ from genome)Protein (380 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NELFE_HUMAN
DESCRIPTION: RecName: Full=Negative elongation factor E; Short=NELF-E; AltName: Full=RNA-binding protein RD;
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.
SUBUNIT: The NELF complex is composed of 4 subunits: WHSC2/NELF-A, COBRA1/NELF-B, TH1L (isoform NELF-C or isoform NELF-D) and RDBP/NELF-E.
INTERACTION: Q8WX92:COBRA1; NbExp=3; IntAct=EBI-348444, EBI-347721;
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: Widely expressed. Expressed in heart, brain, lung, placenta, liver, skeletal muscle, kidney and pancreas.
DOMAIN: The RRM domain interacts with RNA, and is essential for NELF complex function. It is however not required for the NELF complex formation.
PTM: Sumoylated.
SIMILARITY: Belongs to the RRM NELF-E family.
SIMILARITY: Contains 1 RRM (RNA recognition motif) domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: NELFE
Diseases sorted by gene-association score: hiv-1 (3), macular degeneration, age-related, 1 (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 121.44 RPKM in Testis
Total median expression: 1411.38 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -37.2088-0.423 Picture PostScript Text
3' UTR -68.50214-0.320 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR012677 - Nucleotide-bd_a/b_plait
IPR000504 - RRM_dom

Pfam Domains:
PF00076 - RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)

SCOP Domains:
54928 - RNA-binding domain, RBD

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1X5P - NMR MuPIT 2BZ2 - NMR MuPIT 2JX2 - NMR MuPIT


ModBase Predicted Comparative 3D Structure on P18615
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003676 nucleic acid binding
GO:0003682 chromatin binding
GO:0003723 RNA binding
GO:0005515 protein binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0006368 transcription elongation from RNA polymerase II promoter
GO:0034244 negative regulation of transcription elongation from RNA polymerase II promoter
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0051571 positive regulation of histone H3-K4 methylation
GO:0070374 positive regulation of ERK1 and ERK2 cascade
GO:1900364 negative regulation of mRNA polyadenylation

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005886 plasma membrane
GO:0016604 nuclear body
GO:0032021 NELF complex


-  Descriptions from all associated GenBank mRNAs
  BC011600 - Homo sapiens cDNA clone IMAGE:3050953, **** WARNING: chimeric clone ****.
X16105 - Human mRNA for RD protein, RNA-binding.
JD549770 - Sequence 530794 from Patent EP1572962.
JD437218 - Sequence 418242 from Patent EP1572962.
JD539366 - Sequence 520390 from Patent EP1572962.
AK303152 - Homo sapiens cDNA FLJ61007 complete cds, highly similar to Negative elongation factor E.
BC025235 - Homo sapiens RD RNA binding protein, mRNA (cDNA clone MGC:39086 IMAGE:4876045), complete cds.
BC050617 - Homo sapiens RD RNA binding protein, mRNA (cDNA clone MGC:60085 IMAGE:6168937), complete cds.
AK302652 - Homo sapiens cDNA FLJ56180 complete cds, highly similar to Negative elongation factor E.
AK300717 - Homo sapiens cDNA FLJ52247 complete cds, highly similar to Negative elongation factor E.
L03411 - Human RD protein (RD) mRNA, complete cds.
JD168738 - Sequence 149762 from Patent EP1572962.
AK300898 - Homo sapiens cDNA FLJ56553 complete cds, highly similar to Negative elongation factor E.
JD307332 - Sequence 288356 from Patent EP1572962.
JQ313904 - Homo sapiens negative elongation factor E (NELF-E) mRNA, complete cds.
KJ892451 - Synthetic construct Homo sapiens clone ccsbBroadEn_01845 RDBP gene, encodes complete protein.
KJ904375 - Synthetic construct Homo sapiens clone ccsbBroadEn_13769 hypothetical protein, encodes complete protein.
DQ896847 - Synthetic construct Homo sapiens clone IMAGE:100011307; FLH183703.01L; RZPDo839F08141D RD RNA binding protein (RDBP) gene, encodes complete protein.
CU690744 - Synthetic construct Homo sapiens gateway clone IMAGE:100021399 5' read RDBP mRNA.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P18615 (Reactome details) participates in the following event(s):

R-HSA-112437 Formation of NELF complex
R-HSA-113402 Formation of DSIF:NELF:early elongation complex
R-HSA-167085 Formation of DSIF:NELF:HIV-1 early elongation complex
R-HSA-113429 Elongating transcript encounters a lesion in the template
R-HSA-112381 Hyperphosphorylation (Ser2) of RNA Pol II CTD by P-TEFb complex
R-HSA-113409 Abortive termination of early transcription elongation by DSIF:NELF
R-HSA-112379 Recruitment of elongation factors to form elongation complex
R-HSA-113411 2-4 nt.backtracking of Pol II complex on the template leading to elongation pausing
R-HSA-113412 Pol II elongation complex moves on the template as transcript elongates
R-HSA-113414 7-14 nt. Backtracking of Pol II complex on the template leading to elongation arrest
R-HSA-112385 Addition of nucleotides leads to transcript elongation
R-HSA-112392 Resumption of elongation after recovery from pausing
R-HSA-113413 TFIIS-mediated recovery of elongation from arrest
R-HSA-112395 Abortive termination of elongation after arrest
R-HSA-112396 Separation of elongating transcript from template
R-HSA-167150 Resumption of elongation of HIV-1 transcript after recovery from pausing
R-HSA-167076 2-4 nt.backtracking of Pol II complex on the HIV-1 template leading to elongation pausing
R-HSA-167077 Recruitment of elongation factors to form HIV-1 elongation complex
R-HSA-167084 Hyperphosphorylation (Ser2) of RNA Pol II CTD by P-TEFb complex
R-HSA-167087 Limited elongation of the HIV-1 transcript
R-HSA-167191 Hyperphosphorylation (Ser2) of RNA Pol II CTD by the P-TEFb(Cyclin T1:Cdk9) complex
R-HSA-167478 Abortive termination of HIV-1 early transcription elongation by DSIF:NELF
R-HSA-167282 2-4 nt.backtracking of Pol II complex on the HIV-1 template leading to elongation pausing
R-HSA-167284 7-14 nt. Backtracking of Pol II complex on the HIV-1 template leading to elongation arrest
R-HSA-167288 TFIIS-mediated recovery of HIV-1 elongation from arrest
R-HSA-167292 Resumption of elongation of HIV-1 transcript after recovery from pausing
R-HSA-167148 TFIIS-mediated recovery of elongation from arrest
R-HSA-167459 Abortive termination of HIV-1 elongation after arrest (Tat-containing elongation complex)
R-HSA-167090 7-14 nt. Backtracking of Pol II complex on the HIV-1 template leading to elongation arrest
R-HSA-170706 Phosphorylation of NEFL by the P-TEFb(Cyclin T1:Cdk9) complex
R-HSA-167192 Pol II elongation complex moves on the HIV-1 template as transcript elongates
R-HSA-167181 Addition of nucleotides leads to HIV-1 transcript elongation
R-HSA-167197 Separation of elongating HIV-1 transcript from template
R-HSA-167481 Abortive termination of HIV-1 elongation after arrest
R-HSA-167147 Separation of abortive HIV-1 transcript from template
R-HSA-170704 Phosphorylation of DSIF by the P-TEFb(Cyclin T1:Cdk9) complex
R-HSA-167196 Recruitment of elongation factors to form HIV-1 elongation complex
R-HSA-6797616 CCNK:CDK12 binds RNA Pol II at DNA repair genes
R-HSA-6797606 CDK12 phosphorylates RNA Pol II CTD at DNA repair genes
R-HSA-674695 RNA Polymerase II Pre-transcription Events
R-HSA-113418 Formation of the Early Elongation Complex
R-HSA-167158 Formation of the HIV-1 Early Elongation Complex
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-112382 Formation of RNA Pol II elongation complex
R-HSA-75955 RNA Polymerase II Transcription Elongation
R-HSA-167238 Pausing and recovery of Tat-mediated HIV elongation
R-HSA-167152 Formation of HIV elongation complex in the absence of HIV Tat
R-HSA-167242 Abortive elongation of HIV-1 transcript in the absence of Tat
R-HSA-167200 Formation of HIV-1 elongation complex containing HIV-1 Tat
R-HSA-167290 Pausing and recovery of HIV elongation
R-HSA-167287 HIV elongation arrest and recovery
R-HSA-167243 Tat-mediated HIV elongation arrest and recovery
R-HSA-167246 Tat-mediated elongation of the HIV-1 transcript
R-HSA-167169 HIV Transcription Elongation
R-HSA-74160 Gene expression (Transcription)
R-HSA-167172 Transcription of the HIV genome
R-HSA-6796648 TP53 Regulates Transcription of DNA Repair Genes
R-HSA-162599 Late Phase of HIV Life Cycle
R-HSA-3700989 Transcriptional Regulation by TP53
R-HSA-162587 HIV Life Cycle
R-HSA-212436 Generic Transcription Pathway
R-HSA-162906 HIV Infection
R-HSA-5663205 Infectious disease
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: A2BE08, B4DUN1, B4DYX9, ENST00000375429.1, ENST00000375429.2, ENST00000375429.3, ENST00000375429.4, ENST00000375429.5, ENST00000375429.6, ENST00000375429.7, NELFE_HUMAN, NM_002904, P18615, Q5JP74, Q5JP75, Q96F56, Q9NPK2, RD , RDBP, uc318mgf.1, uc318mgf.2
UCSC ID: ENST00000375429.8_10
RefSeq Accession: NM_002904.6
Protein: P18615 (aka NELFE_HUMAN or NLFE_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.