ELL (elongation factor for RNA polymerase II)

Gene

• Entrez ID: 8178
• Gene name: Elongation factor for RNA polymerase II
• Gene symbol: ELL
• Synonyms: C19orf17, ELL1, MEN, PPP1R68
• Chromosome: 19
• Chromosome location: 19p13.11

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT039101	hsa-miR-769-3p	CLASH	23622248
MIRT737327	hsa-miR-1321	PAR-CLIP	26701625
MIRT737723	hsa-miR-149-3p	PAR-CLIP	26701625
MIRT739452	hsa-miR-27a-5p	PAR-CLIP	26701625
MIRT739714	hsa-miR-3065-5p	PAR-CLIP	26701625
MIRT740083	hsa-miR-3131	PAR-CLIP	26701625
MIRT740378	hsa-miR-3153	PAR-CLIP	26701625
MIRT743561	hsa-miR-4270	PAR-CLIP	26701625
MIRT744098	hsa-miR-4327	PAR-CLIP	26701625
MIRT744140	hsa-miR-4417	PAR-CLIP	26701625
MIRT744528	hsa-miR-4441	PAR-CLIP	26701625
MIRT746820	hsa-miR-4668-5p	PAR-CLIP	26701625
MIRT747819	hsa-miR-4728-5p	PAR-CLIP	26701625
MIRT748045	hsa-miR-4739	PAR-CLIP	26701625
MIRT748417	hsa-miR-4756-5p	PAR-CLIP	26701625
MIRT749396	hsa-miR-5004-5p	PAR-CLIP	26701625
MIRT750366	hsa-miR-541-3p	PAR-CLIP	26701625
MIRT752058	hsa-miR-611	PAR-CLIP	26701625
MIRT752420	hsa-miR-6134	PAR-CLIP	26701625
MIRT753437	hsa-miR-654-5p	PAR-CLIP	26701625
MIRT754102	hsa-miR-6733-5p	PAR-CLIP	26701625
MIRT754299	hsa-miR-6739-5p	PAR-CLIP	26701625
MIRT754703	hsa-miR-6754-5p	PAR-CLIP	26701625
MIRT755814	hsa-miR-6785-5p	PAR-CLIP	26701625
MIRT758182	hsa-miR-6877-5p	PAR-CLIP	26701625
MIRT758399	hsa-miR-6883-5p	PAR-CLIP	26701625
MIRT759154	hsa-miR-7-1-3p	PAR-CLIP	26701625
MIRT759352	hsa-miR-7-2-3p	PAR-CLIP	26701625
MIRT759745	hsa-miR-7706	PAR-CLIP	26701625

Transcription factors

Transcription factor	Regulation	Reference
EAF1	Activation	16006523

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001701	Process	In utero embryonic development	IEA
GO:0005515	Function	Protein binding	IPI	19389623, 19819239, 22195968, 23932780, 24413172
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006366	Process	Transcription by RNA polymerase II	TAS
GO:0006368	Process	Transcription elongation from RNA polymerase II promoter	TAS
GO:0008023	Component	Transcription elongation factor complex	IDA	22195968, 23932780
GO:0010923	Process	Negative regulation of phosphatase activity	IDA	19389623
GO:0015030	Component	Cajal body	IDA	22195968, 23932780
GO:0016604	Component	Nuclear body	IDA
GO:0016607	Component	Nuclear speck	IDA	19389623
GO:0019902	Function	Phosphatase binding	IDA	19389623
GO:0032786	Process	Positive regulation of DNA-templated transcription, elongation	TAS	8596958
GO:0032968	Process	Positive regulation of transcription elongation from RNA polymerase II promoter	IMP	23932780
GO:0035327	Component	Transcriptionally active chromatin	IDA	23932780
GO:0035363	Component	Histone locus body	IDA	23932780
GO:0042795	Process	SnRNA transcription by RNA polymerase II	IMP	22195968, 23932780
GO:0042795	Process	SnRNA transcription by RNA polymerase II	TAS
GO:0042796	Process	SnRNA transcription by RNA polymerase III	IMP	23932780
GO:0045945	Process	Positive regulation of transcription by RNA polymerase III	IMP	23932780

Other IDs

• MIM: 600284
• HGNC: 23114
• e!Ensembl: ENSG00000105656

Protein

• UniProt ID: P55199
• Protein name: RNA polymerase II elongation factor ELL (Eleven-nineteen lysine-rich leukemia protein)
• Protein function: Elongation factor component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. Elongation factor component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III (PubMed:22195968, PubMed:23932780). Specifically required for stimulating the elongation step of RNA polymerase II- and III-dependent snRNA gene transcription (PubMed:23932780). ELL also plays an early role before its assembly into in the SEC complex by stabilizing RNA polymerase II recruitment/initiation and entry into the pause site. Required to stabilize the pre-initiation complex and early elongation.
• PDB: 2DOA
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10390	ELL	6 → 292	RNA polymerase II elongation factor ELL	Family
  PF07303	Occludin_ELL	513 → 614	Occludin homology domain	Domain

• Sequence:

  MAALKEDRSYGLSCGRVSDGSKVSVFHVKLTDSALRAFESYRARQDSVSLRPSIRFQGSQ
  GHISIPQPDCPAEARTFSFYLSNIGRDNPQGSFDCIQQYVSSHGEVHLDCLGSIQDKITV
  CATDDSYQKARQSMAQAEEETRSRSAIVIKAGGRYLGKKVQFRKPAPGATDAVPSRKRAT
  PINLASAIRKSGASAVSGGSGVSQRPFRDRVLHLLALRPYRKAELLLRLQKDGLTQADKD
  ALDGLLQQVANMSAKDGTCTLQDCMYKDVQKDWPGYSEGDQQLLKRVLVRKLCQPQSTGS
  LLGDPAASSPPGERGRSASPPQKRLQPPDFIDPLANKKPRISHFTQRAQPAVNGKLGVPN
  GREALLPTPGPPASTDTLSSSTHLPPRLEPPRAHDPLADVSNDLGHSGRDCEHGEAAAPA
  PTVRLGLPLLTDCAQPSRPHGSPSRSKPKKKSKKHKDKERAAEDKPRAQLPDCAPATHAT
  PGAPADTPGLNGTCSVSSVPTSTSETPDYLLKYAAISSSEQRQSYKNDFNAEYSEYRDLH
  ARIERITRRFTQLDAQLRQLSQGSEEYETTRGQILQEYRKIKKTNTNYSQEKHRCEYLHS
  KLAHIKRLIAEYDQRQLQAWP

• Sequence length: 621

Pathways

KEGG:

Viral life cycle - HIV-1

Reactome:

Formation of RNA Pol II elongation complex
RNA Polymerase II Pre-transcription Events
Transcription-Coupled Nucleotide Excision Repair (TC-NER)
TP53 Regulates Transcription of DNA Repair Genes
RNA polymerase II transcribes snRNA genes
RNA Polymerase II Transcription Elongation

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	29059683, 25751625, 23535729
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs-1, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243	23535729
Coronary artery disease	Coronary Artery Disease	rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537	29212778