Free for academic non-profit institutions. Other users need a Commercial license

Aliases for NELFA Gene

Aliases for NELFA Gene

  • Negative Elongation Factor Complex Member A 2 3 5
  • Wolf-Hirschhorn Syndrome Candidate 2 Protein 3 4
  • NELF-A 3 4
  • WHSC2 3 4
  • Wolf-Hirschhorn Syndrome Candidate 2 2
  • Negative Elongation Factor A 3
  • P/OKcl.15 3

External Ids for NELFA Gene

Previous HGNC Symbols for NELFA Gene

  • WHSC2

Summaries for NELFA Gene

Entrez Gene Summary for NELFA Gene

  • This gene is expressed ubiquitously with higher levels in fetal than in adult tissues. It encodes a protein sharing 93% sequence identity with the mouse protein. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene is mapped to the 165 kb WHS critical region, and may play a role in the phenotype of the WHS or Pitt-Rogers-Danks syndrome. The encoded protein is found to be capable of reacting with HLA-A2-restricted and tumor-specific cytotoxic T lymphocytes, suggesting a target for use in specific immunotherapy for a large number of cancer patients. This protein has also been shown to be a member of the NELF (negative elongation factor) protein complex that participates in the regulation of RNA polymerase II transcription elongation. [provided by RefSeq, Jul 2008]

GeneCards Summary for NELFA Gene

NELFA (Negative Elongation Factor Complex Member A) is a Protein Coding gene. Diseases associated with NELFA include Wolf-Hirschhorn Syndrome and Chromosomal Deletion Syndrome. Among its related pathways are HIV Life Cycle and Formation of HIV elongation complex in the absence of HIV Tat. GO annotations related to this gene include chromatin binding and translation elongation factor activity.

UniProtKB/Swiss-Prot for NELFA 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. The NELF complex is involved in HIV-1 latency possibly involving recruitment of PCF11 to paused RNA polymerase II. In vitro, the NELFA:NELFCD subcomplex binds to ssDNA and ssRNA in a sequence- and structure-dependent manner. Probably required to interact with the RNA polymerase II complex.

Gene Wiki entry for NELFA Gene

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

Genomics for NELFA Gene

Regulatory Elements for NELFA Gene

Enhancers for NELFA Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04G001512 1.2 Ensembl ENCODE 63.7 +528.9 528871 1.6 ARNT YBX1 GLIS2 ZNF302 ZNF416 ZNF207 ZNF548 ZNF202 SP3 YY2 HAUS3 NELFA LOC100129917 CTBP1-AS2 ENSG00000272588 CRIPAK PDE6B ENSG00000233799 IDUA FAM53A
GH04G001042 2 FANTOM5 Ensembl ENCODE dbSUPER 22.8 +997.7 997742 2.7 HDGF PKNOX1 CREB3L1 ARNT SIN3A ZNF2 ZNF766 CBX5 FOS KLF13 ZNF141 NELFA ZNF718 LOC100288172 ZNF732 LOC100129917 ZNF876P CTBP1-AS2 CRIPAK ABCA11P
GH04G002502 0.9 dbSUPER 43.8 -461.6 -461600 1.6 NFIB ZFP64 ZNF138 ZNF354C ZNF202 ZNF680 ZNF654 SP3 ZBTB11 ZNF426 HAUS3 NELFA RNF4 FAM53A TNIP2 SH3BP2 HTT ENSG00000251229 GC04P002484
GH04G002467 1.3 ENCODE dbSUPER 27.6 -428.0 -428008 4.6 PKNOX1 FOXA2 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 NELFA HAUS3 NOP14-AS1 TMEM129 RNF4 ZFYVE28 SH3BP2 GC04M002457 GC04P002484
GH04G001867 1.8 FANTOM5 ENCODE dbSUPER 17 +170.7 170725 7.0 HDGF PKNOX1 CREB3L1 AGO1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 NELFA CRIPAK HAUS3 NSD2 GC04M001869
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NELFA on UCSC Golden Path with GeneCards custom track

Genomic Location for NELFA Gene

Chromosome:
4
Start:
1,982,714 bp from pter
End:
2,041,914 bp from pter
Size:
59,201 bases
Orientation:
Minus strand

Genomic View for NELFA Gene

Genes around NELFA on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for NELFA Gene

Proteins for NELFA Gene

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

    Protein Symbol:
    Q9H3P2-NELFA_HUMAN
    Recommended name:
    Negative elongation factor A
    Protein Accession:
    Q9H3P2
    Secondary Accessions:
    • A2A2T1
    • O95392

    Protein attributes for NELFA Gene

    Size:
    528 amino acids
    Molecular mass:
    57277 Da
    Quaternary structure:
    • The NELF complex is composed of NELFA, NELFB, NELFCD (isoform NELF-C or isoform NELF-D) and NELFE; NELFA and NELFCD form a stable subcomplex that binds to the N-terminus of NELFB. Interacts with the RNA polymerase II complex when it is not phosphorylated by P-TEFb.
    SequenceCaution:
    • Sequence=AAC72982.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAG54283.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAM15219.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=EAW82546.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NELFA Gene

    Alternative splice isoforms for NELFA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NELFA Gene

Post-translational modifications for NELFA Gene

  • Ubiquitination at Lys371
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for NELFA Gene

Domains & Families for NELFA Gene

Protein Domains for NELFA Gene

ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9H3P2

UniProtKB/Swiss-Prot:

NELFA_HUMAN :
  • The HDAg-like domain is essential for transcriptional repression, and mediates the interaction with the RNA polymerase II complex.
  • Belongs to the NELF-A family.
Domain:
  • The HDAg-like domain is essential for transcriptional repression, and mediates the interaction with the RNA polymerase II complex.
Family:
  • Belongs to the NELF-A family.
genes like me logo Genes that share domains with NELFA: view

No data available for Gene Families for NELFA Gene

Function for NELFA Gene

Molecular function for NELFA 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. The NELF complex is involved in HIV-1 latency possibly involving recruitment of PCF11 to paused RNA polymerase II. In vitro, the NELFA:NELFCD subcomplex binds to ssDNA and ssRNA in a sequence- and structure-dependent manner. Probably required to interact with the RNA polymerase II complex.

Gene Ontology (GO) - Molecular Function for NELFA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12612062
genes like me logo Genes that share ontologies with NELFA: view
genes like me logo Genes that share phenotypes with NELFA: view

Human Phenotype Ontology for NELFA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for NELFA Gene

miRTarBase miRNAs that target NELFA

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for NELFA

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for NELFA Gene

Localization for NELFA Gene

Subcellular locations from UniProtKB/Swiss-Prot for NELFA Gene

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 NELFA gene
Compartment Confidence
nucleus 5
cytosol 5

Gene Ontology (GO) - Cellular Components for NELFA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS,IDA --
GO:0005829 cytosol IDA --
GO:0016604 nuclear body IDA --
GO:0032021 NELF complex IDA 12612062
genes like me logo Genes that share ontologies with NELFA: view

Pathways & Interactions for NELFA Gene

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

Gene Ontology (GO) - Biological Process for NELFA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter TAS --
GO:0006368 transcription elongation from RNA polymerase II promoter TAS --
GO:0007275 multicellular organism development TAS 10409432
genes like me logo Genes that share ontologies with NELFA: view

No data available for SIGNOR curated interactions for NELFA Gene

Drugs & Compounds for NELFA Gene

No Compound Related Data Available

Transcripts for NELFA Gene

Unigene Clusters for NELFA Gene

Negative elongation factor complex member A:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for NELFA

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

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b ^ 10a · 10b · 10c ^ 11 ^ 12a · 12b ^
SP1: - - - - - - - - -
SP2: - -
SP3: - -
SP4: - - - - - - - - - - - -
SP5:
SP6: - - - - - - - - - - - - - -
SP7: - - - - - -
SP8: - - - - - - -
SP9: -
SP10: - - - - - - - - - -
SP11: - - -
SP12: -
SP13: - - - - - -
SP14: - - - - - - -
SP15: -

ExUns: 13 ^ 14 ^ 15 ^ 16a · 16b · 16c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for NELFA Gene

GeneLoc Exon Structure for
NELFA
ECgene alternative splicing isoforms for
NELFA

Expression for NELFA Gene

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

Protein differential expression in normal tissues from HIPED for NELFA Gene

This gene is overexpressed in Peripheral blood mononuclear cells (15.8) and Testis (10.8).

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



Protein tissue co-expression partners for NELFA Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NELFA Gene:

NELFA

SOURCE GeneReport for Unigene cluster for NELFA Gene:

Hs.21771

mRNA Expression by UniProt/SwissProt for NELFA Gene:

Q9H3P2-NELFA_HUMAN
Tissue specificity: Ubiquitous. Expressed in heart, brain, placenta, liver, skeletal muscle, kidney and pancreas. Expressed at lower level in adult lung. Expressed in fetal brain, lung, liver and kidney.

Evidence on tissue expression from TISSUES for NELFA Gene

  • Nervous system(4.9)
  • Liver(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NELFA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • scalp
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • urethra
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with NELFA: view

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 NELFA Gene

Orthologs for NELFA Gene

This gene was present in the common ancestor of animals.

Orthologs for NELFA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NELFA 35
  • 100 (a)
OneToOne
WHSC2 34
  • 99.38 (n)
dog
(Canis familiaris)
Mammalia NELFA 34 35
  • 88.7 (n)
cow
(Bos Taurus)
Mammalia WHSC2 34 35
  • 88.32 (n)
rat
(Rattus norvegicus)
Mammalia Nelfa 34
  • 85.48 (n)
mouse
(Mus musculus)
Mammalia Nelfa 34 16 35
  • 85.1 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NELFA 35
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NELFA 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves WHSC2 34 35
  • 73.61 (n)
lizard
(Anolis carolinensis)
Reptilia NELFA 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nelfa 34
  • 73.7 (n)
Str.20488 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.18947 34
zebrafish
(Danio rerio)
Actinopterygii nelfa 34 35
  • 73.12 (n)
wufi75f03 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.574 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002290 34
  • 57.14 (n)
fruit fly
(Drosophila melanogaster)
Insecta Nelf-A 35
  • 14 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 39 (a)
OneToOne
Species where no ortholog for NELFA 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)
  • 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 NELFA Gene

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

Paralogs for NELFA Gene

No data available for Paralogs for NELFA Gene

Variants for NELFA Gene

Sequence variations from dbSNP and Humsavar for NELFA Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs1000028762 -- 2,000,581(+) ATACA(C/T)CCTCC intron-variant
rs1000061386 -- 2,000,983(+) GCTGG(C/T)TCAAC intron-variant
rs1000092412 -- 1,993,852(+) CTGGA(C/G)TGCAA intron-variant
rs1000094265 -- 2,006,329(+) TCAAG(G/T)GCGAA intron-variant
rs1000161060 -- 2,009,586(+) GTGGC(A/G)CGCCG upstream-variant-2KB, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
esv33438 CNV loss 17666407
nsv822441 CNV loss 20364138

Variation tolerance for NELFA Gene

Residual Variation Intolerance Score: 3.42% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.09; 38.14% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NELFA Gene

Human Gene Mutation Database (HGMD)
NELFA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NELFA

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

Disorders for NELFA Gene

MalaCards: The human disease database

(2) MalaCards diseases for NELFA Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
wolf-hirschhorn syndrome
  • 4p deletion syndrome
chromosomal deletion syndrome
- elite association - COSMIC cancer census association via MalaCards
Search NELFA in MalaCards View complete list of genes associated with diseases

Relevant External Links for NELFA

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

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

Publications for NELFA Gene

  1. Comparative analysis of a novel gene from the Wolf-Hirschhorn/Pitt- Rogers-Danks syndrome critical region. (PMID: 10409432) Wright T.J. … Altherr M.R. (Genomics 1999) 2 3 4 22 64
  2. 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 4 22 64
  3. Stimulation of RNA polymerase II elongation by hepatitis delta antigen. (PMID: 11387440) Yamaguchi Y. … Handa H. (Science 2001) 3 4 22 64
  4. Modulation of WHSC2 expression in human endothelial cells. (PMID: 11150502) Mariotti M. … Maier J.A.M. (FEBS Lett. 2000) 3 4 22 64
  5. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil S.A. … Gygi S.P. (Nat. Biotechnol. 2006) 3 4 64

Products for NELFA Gene

  • Addgene plasmids for NELFA

Sources for NELFA Gene

Content
Loading form....