UniProtKB - Q9H3P2 (NELFA_HUMAN)
Negative elongation factor A
NELFA
Functioni
Caution
GO - Biological processi
- multicellular organism development Source: ProtInc
- negative regulation of transcription elongation from RNA polymerase II promoter Source: GO_Central
- positive regulation of viral transcription Source: Reactome
- transcription by RNA polymerase II Source: Reactome
- transcription elongation from RNA polymerase II promoter Source: Reactome
Keywordsi
Molecular function | Repressor |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q9H3P2 |
Reactomei | R-HSA-112382, Formation of RNA Pol II elongation complex R-HSA-113418, Formation of the Early Elongation Complex R-HSA-167152, Formation of HIV elongation complex in the absence of HIV Tat R-HSA-167158, Formation of the HIV-1 Early Elongation Complex R-HSA-167200, Formation of HIV-1 elongation complex containing HIV-1 Tat R-HSA-167238, Pausing and recovery of Tat-mediated HIV elongation R-HSA-167242, Abortive elongation of HIV-1 transcript in the absence of Tat R-HSA-167243, Tat-mediated HIV elongation arrest and recovery R-HSA-167246, Tat-mediated elongation of the HIV-1 transcript R-HSA-167287, HIV elongation arrest and recovery R-HSA-167290, Pausing and recovery of HIV elongation R-HSA-674695, RNA Polymerase II Pre-transcription Events R-HSA-6796648, TP53 Regulates Transcription of DNA Repair Genes R-HSA-75955, RNA Polymerase II Transcription Elongation |
Names & Taxonomyi
Protein namesi | Recommended name: Negative elongation factor AShort name: NELF-A Alternative name(s): Wolf-Hirschhorn syndrome candidate 2 protein |
Gene namesi | Name:NELFA Synonyms:WHSC2 ORF Names:P/OKcl.15 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000185049.12 |
HGNCi | HGNC:12768, NELFA |
MIMi | 606026, gene |
neXtProti | NX_Q9H3P2 |
Subcellular locationi
Nucleus
- Nucleus 1 Publication
Cytosol
- cytosol Source: HPA
Nucleus
- NELF complex Source: UniProtKB
- nuclear body Source: HPA
- nucleoplasm Source: HPA
Keywords - Cellular componenti
NucleusPathology & Biotechi
Organism-specific databases
DisGeNETi | 7469 |
GeneReviewsi | NELFA |
MalaCardsi | NELFA |
OpenTargetsi | ENSG00000185049 |
Orphaneti | 280, Wolf-Hirschhorn syndrome |
PharmGKBi | PA37371 |
Miscellaneous databases
Pharosi | Q9H3P2, Tbio |
Polymorphism and mutation databases
BioMutai | NELFA |
DMDMi | 212276499 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000219126 | 1 – 528 | Negative elongation factor AAdd BLAST | 528 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 157 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 225 | PhosphoserineCombined sources | 1 | |
Modified residuei | 233 | PhosphoserineCombined sources | 1 | |
Modified residuei | 277 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 363 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q9H3P2 |
jPOSTi | Q9H3P2 |
MassIVEi | Q9H3P2 |
MaxQBi | Q9H3P2 |
PaxDbi | Q9H3P2 |
PeptideAtlasi | Q9H3P2 |
PRIDEi | Q9H3P2 |
ProteomicsDBi | 80736 [Q9H3P2-1] 80737 [Q9H3P2-7] |
PTM databases
iPTMneti | Q9H3P2 |
MetOSitei | Q9H3P2 |
PhosphoSitePlusi | Q9H3P2 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000185049, Expressed in endothelial cell and 233 other tissues |
ExpressionAtlasi | Q9H3P2, baseline and differential |
Genevisiblei | Q9H3P2, HS |
Organism-specific databases
HPAi | ENSG00000185049, Low tissue specificity |
Interactioni
Subunit structurei
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 (PubMed:11387440). In vitro, the NELFA:NELFCD subcomplex binds to ssDNA and ssRNA in a sequence- and structure-dependent manner (PubMed:27282391).
Interacts with the RNA polymerase II complex when it is not phosphorylated by P-TEFb (PubMed:10199401).
3 PublicationsBinary interactionsi
Hide detailsQ9H3P2
Protein-protein interaction databases
BioGRIDi | 113307, 43 interactors |
CORUMi | Q9H3P2 |
DIPi | DIP-48478N |
IntActi | Q9H3P2, 33 interactors |
MINTi | Q9H3P2 |
STRINGi | 9606.ENSP00000372335 |
Miscellaneous databases
RNActi | Q9H3P2, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q9H3P2 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 89 – 248 | HDAgPROSITE-ProRule annotationAdd BLAST | 160 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 125 – 188 | NELF-C/D-bindingPROSITE-ProRule annotationAdd BLAST | 64 | |
Regioni | 189 – 248 | RNAPII-bindingPROSITE-ProRule annotationAdd BLAST | 60 |
Domaini
Sequence similaritiesi
Phylogenomic databases
eggNOGi | ENOG502QTCD, Eukaryota |
GeneTreei | ENSGT00390000005342 |
HOGENOMi | CLU_039060_1_0_1 |
InParanoidi | Q9H3P2 |
OrthoDBi | 1011916at2759 |
PhylomeDBi | Q9H3P2 |
TreeFami | TF324956 |
Family and domain databases
InterProi | View protein in InterPro IPR037517, HDAG_dom IPR026305, NELF-A |
PANTHERi | PTHR13328:SF4, PTHR13328:SF4, 2 hits |
PROSITEi | View protein in PROSITE PS51838, HDAG, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MASMRESDTG LWLHNKLGAT DELWAPPSIA SLLTAAVIDN IRLCFHGLSS
60 70 80 90 100
AVKLKLLLGT LHLPRRTVDE MKGALMEIIQ LASLDSDPWV LMVADILKSF
110 120 130 140 150
PDTGSLNLEL EEQNPNVQDI LGELREKVGE CEASAMLPLE CQYLNKNALT
160 170 180 190 200
TLAGPLTPPV KHFQLKRKPK SATLRAELLQ KSTETAQQLK RSAGVPFHAK
210 220 230 240 250
GRGLLRKMDT TTPLKGIPKQ APFRSPTAPS VFSPTGNRTP IPPSRTLLRK
260 270 280 290 300
ERGVKLLDIS ELDMVGAGRE AKRRRKTLDA EVVEKPAKEE TVVENATPDY
310 320 330 340 350
AAGLVSTQKL GSLNNEPALP STSYLPSTPS VVPASSYIPS SETPPAPSSR
360 370 380 390 400
EASRPPEEPS APSPTLPAQF KQRAPMYNSG LSPATPTPAA PTSPLTPTTP
410 420 430 440 450
PAVAPTTQTP PVAMVAPQTQ APAQQQPKKN LSLTREQMFA AQEMFKTANK
460 470 480 490 500
VTRPEKALIL GFMAGSRENP CQEQGDVIQI KLSEHTEDLP KADGQGSTTM
510 520
LVDTVFEMNY ATGQWTRFKK YKPMTNVS
Computationally mapped potential isoform sequencesi
There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A0C4DFX9 | A0A0C4DFX9_HUMAN | Negative elongation factor A | NELFA | 539 | Annotation score: | ||
H0Y3X6 | H0Y3X6_HUMAN | Negative elongation factor A | NELFA | 532 | Annotation score: | ||
C9JHL4 | C9JHL4_HUMAN | Negative elongation factor A | NELFA | 283 | Annotation score: | ||
C9JEM7 | C9JEM7_HUMAN | Negative elongation factor A | NELFA | 208 | Annotation score: | ||
H7C0W2 | H7C0W2_HUMAN | Negative elongation factor A | NELFA | 187 | Annotation score: | ||
H7C2C7 | H7C2C7_HUMAN | Negative elongation factor A | NELFA | 246 | Annotation score: | ||
F8W954 | F8W954_HUMAN | Negative elongation factor A | NELFA | 86 | Annotation score: | ||
H7C2M8 | H7C2M8_HUMAN | Negative elongation factor A | NELFA | 125 | Annotation score: | ||
H7C3C2 | H7C3C2_HUMAN | Negative elongation factor A | NELFA | 65 | Annotation score: | ||
F8WF98 | F8WF98_HUMAN | Negative elongation factor A | NELFA | 102 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 37 | V → I in BAB18651 (PubMed:11280764).Curated | 1 | |
Sequence conflicti | 40 | N → NIRLCFHGLSSASLLTAAVI DN in BAB18651 (PubMed:11280764).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_059459 | 335 | S → A. Corresponds to variant dbSNP:rs2234569EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_035589 | 1 – 263 | Missing in isoform 2. 1 PublicationAdd BLAST | 263 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF101434 mRNA Translation: AAC72982.1 Different initiation. AB044549 mRNA Translation: BAB18651.1 AF131751 mRNA Translation: AAD20034.1 AK126056 mRNA Translation: BAG54283.1 Different initiation. AL132868 Genomic DNA No translation available. CH471131 Genomic DNA Translation: EAW82546.1 Different initiation. BC002764 mRNA Translation: AAH02764.2 |
CCDSi | CCDS3358.2 [Q9H3P2-1] |
RefSeqi | NP_005654.3, NM_005663.4 [Q9H3P2-1] |
Genome annotation databases
Ensembli | ENST00000382882; ENSP00000372335; ENSG00000185049 [Q9H3P2-1] |
GeneIDi | 7469 |
KEGGi | hsa:7469 |
UCSCi | uc003gem.4, human [Q9H3P2-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF101434 mRNA Translation: AAC72982.1 Different initiation. AB044549 mRNA Translation: BAB18651.1 AF131751 mRNA Translation: AAD20034.1 AK126056 mRNA Translation: BAG54283.1 Different initiation. AL132868 Genomic DNA No translation available. CH471131 Genomic DNA Translation: EAW82546.1 Different initiation. BC002764 mRNA Translation: AAH02764.2 |
CCDSi | CCDS3358.2 [Q9H3P2-1] |
RefSeqi | NP_005654.3, NM_005663.4 [Q9H3P2-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
5L3X | X-ray | 2.75 | A | 6-182 | [»] | |
6GML | electron microscopy | 3.20 | U | 1-528 | [»] | |
SMRi | Q9H3P2 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 113307, 43 interactors |
CORUMi | Q9H3P2 |
DIPi | DIP-48478N |
IntActi | Q9H3P2, 33 interactors |
MINTi | Q9H3P2 |
STRINGi | 9606.ENSP00000372335 |
PTM databases
iPTMneti | Q9H3P2 |
MetOSitei | Q9H3P2 |
PhosphoSitePlusi | Q9H3P2 |
Polymorphism and mutation databases
BioMutai | NELFA |
DMDMi | 212276499 |
Proteomic databases
EPDi | Q9H3P2 |
jPOSTi | Q9H3P2 |
MassIVEi | Q9H3P2 |
MaxQBi | Q9H3P2 |
PaxDbi | Q9H3P2 |
PeptideAtlasi | Q9H3P2 |
PRIDEi | Q9H3P2 |
ProteomicsDBi | 80736 [Q9H3P2-1] 80737 [Q9H3P2-7] |
Protocols and materials databases
Antibodypediai | 4097, 185 antibodies |
DNASUi | 7469 |
Genome annotation databases
Ensembli | ENST00000382882; ENSP00000372335; ENSG00000185049 [Q9H3P2-1] |
GeneIDi | 7469 |
KEGGi | hsa:7469 |
UCSCi | uc003gem.4, human [Q9H3P2-1] |
Organism-specific databases
CTDi | 7469 |
DisGeNETi | 7469 |
EuPathDBi | HostDB:ENSG00000185049.12 |
GeneCardsi | NELFA |
GeneReviewsi | NELFA |
HGNCi | HGNC:12768, NELFA |
HPAi | ENSG00000185049, Low tissue specificity |
MalaCardsi | NELFA |
MIMi | 606026, gene |
neXtProti | NX_Q9H3P2 |
OpenTargetsi | ENSG00000185049 |
Orphaneti | 280, Wolf-Hirschhorn syndrome |
PharmGKBi | PA37371 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QTCD, Eukaryota |
GeneTreei | ENSGT00390000005342 |
HOGENOMi | CLU_039060_1_0_1 |
InParanoidi | Q9H3P2 |
OrthoDBi | 1011916at2759 |
PhylomeDBi | Q9H3P2 |
TreeFami | TF324956 |
Enzyme and pathway databases
PathwayCommonsi | Q9H3P2 |
Reactomei | R-HSA-112382, Formation of RNA Pol II elongation complex R-HSA-113418, Formation of the Early Elongation Complex R-HSA-167152, Formation of HIV elongation complex in the absence of HIV Tat R-HSA-167158, Formation of the HIV-1 Early Elongation Complex R-HSA-167200, Formation of HIV-1 elongation complex containing HIV-1 Tat R-HSA-167238, Pausing and recovery of Tat-mediated HIV elongation R-HSA-167242, Abortive elongation of HIV-1 transcript in the absence of Tat R-HSA-167243, Tat-mediated HIV elongation arrest and recovery R-HSA-167246, Tat-mediated elongation of the HIV-1 transcript R-HSA-167287, HIV elongation arrest and recovery R-HSA-167290, Pausing and recovery of HIV elongation R-HSA-674695, RNA Polymerase II Pre-transcription Events R-HSA-6796648, TP53 Regulates Transcription of DNA Repair Genes R-HSA-75955, RNA Polymerase II Transcription Elongation |
Miscellaneous databases
BioGRID-ORCSi | 7469, 569 hits in 854 CRISPR screens |
ChiTaRSi | NELFA, human |
GeneWikii | WHSC2 |
GenomeRNAii | 7469 |
Pharosi | Q9H3P2, Tbio |
PROi | PR:Q9H3P2 |
RNActi | Q9H3P2, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000185049, Expressed in endothelial cell and 233 other tissues |
ExpressionAtlasi | Q9H3P2, baseline and differential |
Genevisiblei | Q9H3P2, HS |
Family and domain databases
InterProi | View protein in InterPro IPR037517, HDAG_dom IPR026305, NELF-A |
PANTHERi | PTHR13328:SF4, PTHR13328:SF4, 2 hits |
PROSITEi | View protein in PROSITE PS51838, HDAG, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | NELFA_HUMAN | |
Accessioni | Q9H3P2Primary (citable) accession number: Q9H3P2 Secondary accession number(s): A2A2T1, O95392 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 14, 2003 |
Last sequence update: | November 4, 2008 | |
Last modified: | December 2, 2020 | |
This is version 173 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 4
Human chromosome 4: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations