NELFB Gene (Protein Coding)

Negative Elongation Factor Complex Member B

GC09P137255
GIFtS:
36
NELFB is a subunit of negative elongation factor (NELF), which also includes NELFA (WHSC2; MIM 606026), either NELFC or NELFD (TH1L; MIM 605297), and NELFE (RDBP; MIM 154040). NELF acts with DRB sensitivity-inducing factor (DSIF), a heterodimer of SPT4 (SUPT4H1; MIM 603555) and SPT5 (SUPT5H; MIM 602102), to cause transcriptional pausing of RNA polymerase II (see MIM 180660) (Na... See more...

Aliases for NELFB Gene

Aliases for NELFB Gene

  • Negative Elongation Factor Complex Member B 2 3 5
  • Cofactor Of BRCA1 2 3 4
  • Negative Elongation Factor B 3 4
  • COBRA1 3 4
  • NELF-B 3 4
  • Negative Elongation Factor Protein B 3
  • KIAA1182 4

External Ids for NELFB Gene

Previous HGNC Symbols for NELFB Gene

  • COBRA1

Previous GeneCards Identifiers for NELFB Gene

  • GC09P140150

Summaries for NELFB Gene

Entrez Gene Summary for NELFB Gene

  • NELFB is a subunit of negative elongation factor (NELF), which also includes NELFA (WHSC2; MIM 606026), either NELFC or NELFD (TH1L; MIM 605297), and NELFE (RDBP; MIM 154040). NELF acts with DRB sensitivity-inducing factor (DSIF), a heterodimer of SPT4 (SUPT4H1; MIM 603555) and SPT5 (SUPT5H; MIM 602102), to cause transcriptional pausing of RNA polymerase II (see MIM 180660) (Narita et al., 2003 [PubMed 12612062]).[supplied by OMIM, Mar 2008]

GeneCards Summary for NELFB Gene

NELFB (Negative Elongation Factor Complex Member B) is a Protein Coding gene. Among its related pathways are Tat-mediated elongation of the HIV-1 transcript and Regulation of TP53 Activity.

UniProtKB/Swiss-Prot Summary for NELFB Gene

  • Essential component of the NELF complex, a complex that negatively regulates the elongation of transcription by RNA polymerase II (PubMed:12612062). The NELF complex, which acts via an association with the DSIF complex and causes transcriptional pausing, is counteracted by the P-TEFb kinase complex (PubMed:10199401). May be able to induce chromatin unfolding (PubMed:11739404). Essential for early embryogenesis; plays an important role in maintaining the undifferentiated state of embryonic stem cells (ESCs) by preventing unscheduled expression of developmental genes (By similarity). Plays a key role in establishing the responsiveness of stem cells to developmental cues; facilitates plasticity and cell fate commitment in ESCs by establishing the appropriate expression level of signaling molecules (By similarity). Supports the transcription of genes involved in energy metabolism in cardiomyocytes; facilitates the association of transcription initiation factors with the promoters of the metabolism-related genes (By similarity).
  • (Microbial infection) The NELF complex is involved in HIV-1 latency possibly involving recruitment of PCF11 to paused RNA polymerase II (PubMed:23884411). In vitro, binds weakly to the HIV-1 TAR RNA which is located in the long terminal repeat (LTR) of HIV-1 (PubMed:23884411).

Gene Wiki entry for NELFB Gene

Additional gene information for NELFB Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NELFB Gene

Genomics for NELFB Gene

GeneHancer (GH) Regulatory Elements for NELFB Gene

Promoters and enhancers for NELFB Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH09J137253 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 775.3 0.0 -32 3.5 GTF3C2 ZNF24 SP1 ZBTB40 SIX5 ZBTB6 POLR2A HCFC1 MYC ELF1 NELFB STPG3-AS1 EHMT1 ENTR1 SEC16A SNHG7 MAN1B1 ANAPC2 ENSG00000255585 DPH7
GH09J137267 Enhancer 1.1 ENCODE dbSUPER 24.1 +13.6 13553 2.3 SP1 ZBTB40 SMARCE1 USF2 MYC CC2D1A HLF L3MBTL2 MAX MNT HSALNG0075385 EHMT1 NELFB ENTR1 ANAPC2 ENSG00000255585 SNHG7 SEC16A DPH7 FAM157B
GH09J137233 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 9 -16.1 -16097 11.7 ZNF785 SIN3A ZNF24 ZBTB40 SP1 CTCF SREBF1 ZBTB6 MLX RBPJ TUBB4B EHMT1 ENTR1 ANAPC2 DPH7 INPP5E SNHG7 NDOR1 ENSG00000255585 SEC16A
GH09J137247 Promoter/Enhancer 1 EPDnew Ensembl CraniofacialAtlas 23.7 -7.7 -7732 0.9 ZBTB6 GLIS2 ZIC2 CEBPA TEAD1 TEAD3 FAM166A lnc-FAM166A-2 NELFB piR-54312-005
GH09J137250 Promoter/Enhancer 0.8 EPDnew CraniofacialAtlas 25.1 -4.5 -4458 0.6 TFE3 GLIS2 ZIC2 TGIF2 NFIA GLIS1 RARA FAM166A NONHSAG053861.2 STPG3 NELFB TOR4A STPG3-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NELFB on UCSC Golden Path with GeneCards custom track

Genomic Locations for NELFB Gene

Genomic Locations for NELFB Gene
chr9:137,255,307-137,273,548
(GRCh38/hg38)
Size:
18,242 bases
Orientation:
Plus strand
chr9:140,149,625-140,168,000
(GRCh37/hg19)
Size:
18,376 bases
Orientation:
Plus strand

Genomic View for NELFB Gene

Genes around NELFB on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for NELFB Gene

Proteins for NELFB Gene

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

    Protein Symbol:
    Q8WX92-NELFB_HUMAN
    Recommended name:
    Negative elongation factor B
    Protein Accession:
    Q8WX92
    Secondary Accessions:
    • A0A0X1KG71
    • A2BFA3
    • Q96EW5
    • Q9H9R4
    • Q9ULN8
    • Q9Y3W0

    Protein attributes for NELFB Gene

    Size:
    580 amino acids
    Molecular mass:
    65697 Da
    Quaternary structure:
    • The NELF complex is composed of NELFA, NELFB, NELFCD (isoform NELF-C or isoform NELF-D) and NELFE; the N-terminus of NELFB binds to the NELFA:NELFCD subcomplex (PubMed:12612062). Binds RNA which may help to stabilize the NELF complex on nucleic acid (PubMed:27282391). Interacts with the first BRCT repeat of BRCA1 (PubMed:11739404). Interacts with KIAA1191 (PubMed:21153684). Interacts with NELFE (By similarity).
    SequenceCaution:
    • Sequence=AAH11892.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB14157.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAG52272.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAB43381.3; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NELFB Gene

    Alternative splice isoforms for NELFB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NELFB Gene

Protein Expression for NELFB Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for NELFB Gene

  • Ubiquitination at Lys99 and Lys135
  • Modification sites at PhosphoSitePlus

Other Protein References for NELFB Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NELFB Gene

Domains & Families for NELFB Gene

Gene Families for NELFB Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for NELFB Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NELFB Gene

GenScript: Design optimal peptide antigens:
  • Cofactor of BRCA1 (NELFB_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8WX92

UniProtKB/Swiss-Prot:

NELFB_HUMAN :
  • Belongs to the NELF-B family.
Family:
  • Belongs to the NELF-B family.
genes like me logo Genes that share domains with NELFB: view

Function for NELFB Gene

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Molecular function for NELFB Gene

UniProtKB/Swiss-Prot Function:
Essential component of the NELF complex, a complex that negatively regulates the elongation of transcription by RNA polymerase II (PubMed:12612062). The NELF complex, which acts via an association with the DSIF complex and causes transcriptional pausing, is counteracted by the P-TEFb kinase complex (PubMed:10199401). May be able to induce chromatin unfolding (PubMed:11739404). Essential for early embryogenesis; plays an important role in maintaining the undifferentiated state of embryonic stem cells (ESCs) by preventing unscheduled expression of developmental genes (By similarity). Plays a key role in establishing the responsiveness of stem cells to developmental cues; facilitates plasticity and cell fate commitment in ESCs by establishing the appropriate expression level of signaling molecules (By similarity). Supports the transcription of genes involved in energy metabolism in cardiomyocytes; facilitates the association of transcription initiation factors with the promoters of the metabolism-related genes (By similarity).
UniProtKB/Swiss-Prot Function:
(Microbial infection) The NELF complex is involved in HIV-1 latency possibly involving recruitment of PCF11 to paused RNA polymerase II (PubMed:23884411). In vitro, binds weakly to the HIV-1 TAR RNA which is located in the long terminal repeat (LTR) of HIV-1 (PubMed:23884411).

Gene Ontology (GO) - Molecular Function for NELFB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0005515 protein binding IPI 11739404
genes like me logo Genes that share ontologies with NELFB: view
genes like me logo Genes that share phenotypes with NELFB: view

Animal Models for NELFB Gene

MGI Knock Outs for NELFB:

Animal Model Products

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miRNA for NELFB Gene

miRTarBase miRNAs that target NELFB

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NELFB Gene

Localization for NELFB Gene

Subcellular locations from UniProtKB/Swiss-Prot for NELFB Gene

Nucleus.

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 NELFB gene
Compartment Confidence
nucleus 5
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NELFB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA --
GO:0032021 NELF complex IBA,IDA 12612062
genes like me logo Genes that share ontologies with NELFB: view

Pathways & Interactions for NELFB Gene

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

Gene Ontology (GO) - Biological Process for NELFB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006366 transcription by RNA polymerase II TAS --
GO:0006368 transcription elongation from RNA polymerase II promoter TAS --
GO:0008283 cell proliferation ISS --
GO:0034244 negative regulation of transcription elongation from RNA polymerase II promoter IBA,ISS --
GO:0045892 negative regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with NELFB: view

No data available for SIGNOR curated interactions for NELFB Gene

Drugs & Compounds for NELFB Gene

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No Compound Related Data Available

Transcripts for NELFB Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for NELFB Gene

(1) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(2163) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b · 5c · 5d ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
SP1: - - - -
SP2: - -
SP3: - -
SP4:
SP5: -
SP6: -

Relevant External Links for NELFB Gene

GeneLoc Exon Structure for
NELFB
ECgene alternative splicing isoforms for
NELFB

Expression for NELFB Gene

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  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for NELFB Gene
mRNA expression by BioGPS for NELFB GenemRNA expression by GTEx for NELFB Gene

Protein differential expression in normal tissues from HIPED for NELFB Gene

This gene is overexpressed in Bone (19.1) and Breast (15.5).

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



Protein tissue co-expression partners for NELFB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NELFB Gene:

NELFB

SOURCE GeneReport for Unigene cluster for NELFB Gene:

Hs.521809

mRNA Expression by UniProt/SwissProt for NELFB Gene:

Q8WX92-NELFB_HUMAN
Tissue specificity: Widely expressed. Expressed in heart, brain, lung, placenta, liver, skeletal muscle, kidney and pancreas.

Evidence on tissue expression from TISSUES for NELFB Gene

  • Nervous system(4.8)
  • Liver(4.2)
  • Lung(4.2)
genes like me logo Genes that share expression patterns with NELFB: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for NELFB Gene

Orthologs for NELFB Gene

This gene was present in the common ancestor of animals.

Orthologs for NELFB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia NELFB 33
  • 100 (a)
 OneToOne
COBRA1 32
  • 98.3 (n)
cow
(Bos Taurus)
 Mammalia COBRA1 33
  • 96 (a)
 OneToOne
NELFB 32
  • 89.37 (n)
oppossum
(Monodelphis domestica)
 Mammalia NELFB 33
  • 91 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia NELFB 33 32
  • 89.48 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Nelfb 32
  • 86.15 (n)
mouse
(Mus musculus)
 Mammalia Nelfb 17 33 32
  • 85.63 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia NELFB 33
  • 84 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves COBRA1 33 32
  • 78.26 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia NELFB 33
  • 86 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia nelfb 32
  • 76.91 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.7402 32
zebrafish
(Danio rerio)
 Actinopterygii nelfb 33 32
  • 71.9 (n)
 OneToOne
zgc55628 32
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP012109 32
  • 62.76 (n)
fruit fly
(Drosophila melanogaster)
 Insecta NELF-B 33 32
  • 59 (n)
 OneToOne
sea squirt
(Ciona savignyi)
 Ascidiacea Cin.3713 32
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.3713 32
Species where no ortholog for NELFB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 NELFB Gene

ENSEMBL:
Gene Tree for NELFB (if available)
TreeFam:
Gene Tree for NELFB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NELFB: view image

Paralogs for NELFB Gene

No data available for Paralogs for NELFB Gene

Variants for NELFB Gene

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Sequence variations from dbSNP and Humsavar for NELFB Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000113326 -- 137,268,223(+) T/C intron_variant
rs1000226346 -- 137,263,908(+) C/T intron_variant
rs1000287829 -- 137,262,902(+) G/A intron_variant
rs1000305288 -- 137,266,890(+) T/G intron_variant
rs1000378331 -- 137,273,157(+) C/T 3_prime_UTR_variant

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

Variant ID Type Subtype PubMed ID
dgv13009n54 CNV loss 21841781
dgv13011n54 CNV loss 21841781
esv2422220 CNV deletion 17116639
esv2739418 CNV deletion 23290073
esv2739419 CNV deletion 23290073
nsv1161918 CNV duplication 26073780
nsv524322 CNV loss 19592680
nsv951207 CNV deletion 24416366

Variation tolerance for NELFB Gene

Residual Variation Intolerance Score: 7.39% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.50; 29.25% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NELFB Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NELFB

SNP Genotyping and Copy Number Assay Products

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

Disorders for NELFB Gene

Additional Disease Information for NELFB

ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for NELFB Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for NELFB Gene

Publications for NELFB Gene

  1. Deregulation of cofactor of BRCA1 expression in breast cancer cells. (PMID: 17910036) Sun J … Li R (Journal of cellular biochemistry 2008) 2 3 23 56
  2. Cofactor of BRCA1 modulates androgen-dependent transcription and alternative splicing. (PMID: 17659869) Sun J … Li R (The Journal of steroid biochemistry and molecular biology 2007) 2 3 23 56
  3. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 2 3 4 56
  4. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PMID: 10574461) Hirosawa M … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4 56
  5. Architecture and RNA binding of the human negative elongation factor. (PMID: 27282391) Vos SM … Cramer P (eLife 2016) 3 4 56

ExternalLinks

View latest publications for NELFB gene in Mastermind

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