Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7936
Gene name	Negative elongation factor complex member E
Gene symbol	NELFE
Synonyms (NCBI Gene)	D6S45NELF-ERDRDBPRDP
Chromosome	6
Chromosome location	6p21.33
Summary	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 th

Show/Hide all (19)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029251	hsa-miR-26b-5p	Microarray	19088304
MIRT037783	hsa-miR-628-5p	CLASH	23622248
MIRT037249	hsa-miR-877-5p	CLASH	23622248
MIRT528207	hsa-miR-501-5p	PAR-CLIP	22012620
MIRT528206	hsa-miR-488-5p	PAR-CLIP	22012620
MIRT528205	hsa-miR-1273c	PAR-CLIP	22012620
MIRT528204	hsa-miR-3683	PAR-CLIP	22012620
MIRT528203	hsa-miR-124-5p	PAR-CLIP	22012620
MIRT528202	hsa-miR-520a-5p	PAR-CLIP	22012620
MIRT528201	hsa-miR-525-5p	PAR-CLIP	22012620
MIRT528200	hsa-miR-3180-5p	PAR-CLIP	22012620
MIRT528207	hsa-miR-501-5p	PAR-CLIP	22012620
MIRT528206	hsa-miR-488-5p	PAR-CLIP	22012620
MIRT528205	hsa-miR-1273c	PAR-CLIP	22012620
MIRT528204	hsa-miR-3683	PAR-CLIP	22012620
MIRT528203	hsa-miR-124-5p	PAR-CLIP	22012620
MIRT528202	hsa-miR-520a-5p	PAR-CLIP	22012620
MIRT528201	hsa-miR-525-5p	PAR-CLIP	22012620
MIRT528200	hsa-miR-3180-5p	PAR-CLIP	22012620

Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	IDA	14701750, 27256882
GO:0000785	Component	Chromatin	IEA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003682	Function	Chromatin binding	IDA	14701750, 27256882
GO:0003682	Function	Chromatin binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674
GO:0003723	Function	RNA binding	IDA	27256882
GO:0003723	Function	RNA binding	IEA
GO:0003723	Function	RNA binding	NAS	2119325
GO:0003729	Function	MRNA binding	IDA	27256882
GO:0005515	Function	Protein binding	IPI	12612062, 14667819, 20211142, 24981860, 25416956, 26496610, 28514442, 32296183, 33961781
GO:0005634	Component	Nucleus	IDA	27256882
GO:0005634	Component	Nucleus	IDA	12612062
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	2119325
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006366	Process	Transcription by RNA polymerase II	TAS	29849146
GO:0016604	Component	Nuclear body	IDA
GO:0032021	Component	NELF complex	IBA
GO:0032021	Component	NELF complex	IDA	12612062
GO:0032021	Component	NELF complex	IEA
GO:0032021	Component	NELF complex	IPI	12612062
GO:0034244	Process	Negative regulation of transcription elongation by RNA polymerase II	IBA
GO:0034244	Process	Negative regulation of transcription elongation by RNA polymerase II	IDA	12612062, 27256882
GO:0034244	Process	Negative regulation of transcription elongation by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IEA
GO:0160239	Process	Transcription pausing by RNA polymerase II	IDA	14701750, 27256882

MIM	HGNC	e!Ensembl
154040	13974	ENSG00000204356

P18615

Protein name

Negative elongation factor E (NELF-E) (RNA-binding protein RD)

Protein function

Essential component of the NELF complex, a complex that negatively regulates the elongation of transcription by RNA polymerase II (PubMed:10199401, PubMed:27256882). The NELF complex, which acts via an association with the DSIF complex and cause

PDB

1X5P , 2BZ2 , 2JX2 , 5OOB , 6GML , 7YCX , 8JJ6 , 8UHA , 8UHD , 8UHG , 8UI0 , 8W8E , 9J0N , 9J0O , 9J0P

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00076	RRM_1	267 → 326	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Expressed in heart, brain, lung, placenta, liver, skeletal muscle, kidney and pancreas. {ECO:0000269|PubMed:12612062}.

Sequence

MLVIPPGLSEEEEALQKKFNKLKKKKKALLALKKQSSSSTTSQGGVKRSLSEQPVMDTAT
ATEQAKQLVKSGAISAIKAETKNSGFKRSRTLEGKLKDPEKGPVPTFQPFQRSISADDDL
QESSRRPQRKSLYESFVSSSDRLRELGPDGEEAEGPGAGDGPPRSFDWGYEERSGAHSSA
SPPRSRSRDRSHERNRDRDRDRERDRDRDRDRDRERDRDRDRDRDRDRERDRDRERDRDR
DREGPFRRSDSFPERRAPRKGNTLYVYGEDMTPTLLRGAFSPFGNIIDLSMDPPRNCAFV
TYEKMESADQAVAELNGTQVESVQLKVNIARKQPMLDAATGKSVWGSLAVQNSPKGCHRD
KRTQIVYSDDVYKENLVDGF

Sequence length

380

Interactions

View interactions

	KEGG		Reactome
	Viral life cycle - HIV-1		Formation of RNA Pol II elongation complex Formation of the Early Elongation Complex Formation of HIV-1 elongation complex containing HIV-1 Tat RNA Polymerase II Pre-transcription Events TP53 Regulates Transcription of DNA Repair Genes RNA Polymerase II Transcription Elongation

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRICHOHEPATOENTERIC SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (29)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	31080086		★★★★★ ★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	19556007, 23260260		★★★★★ ★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	GWASDB_DG	23577725		★★★★★ ★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	GWASCAT_DG	23577725		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37117180	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	12079511, 30833661, 34288818	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	10443882, 17516473, 22067897		★★★★★ ★☆☆☆☆ Found in Text Mining only
Exudative age-related macular degeneration	Exudative Macular Degeneration	BEFREE	23260260		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	29588587		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	23260260		★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	GWASDB_DG	21900946		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	37047552	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22614758, 28697339, 30833661		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASDB_DG	24871463		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	23577725	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	31638184		★★★★★ ★☆☆☆☆ Found in Text Mining only
MIGRAINE, FAMILIAL HEMIPLEGIC, 2	Hemiplegic migraine	BEFREE	22067897		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	20598377		★★★★★ ★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	25765771	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23839495, 2823272, 28697339, 31638184		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	31638184		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	31638184	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	10443882, 23555734		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	22067897		★★★★★ ★☆☆☆☆ Found in Text Mining only
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS	Pigmentary Disorder, Reticulate, With Systemic Manifestations	BEFREE	30973596		★★★★★ ★☆☆☆☆ Found in Text Mining only
Proliferative diabetic retinopathy	Proliferative Diabetic Retinopathy	BEFREE	30973596		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	21156761		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	21293383, 8978965		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Septicemia	Septicemia	BEFREE	8455188		★★★★★ ★☆☆☆☆ Found in Text Mining only

NELFE (negative elongation factor complex member E)