ELL
entrez
8178
canonical
uniprot
P55199
canonical
ensembl
ENSG00000105656
resolver
ensp
ENSP00000262809
resolver
ensp
ENSP00000475648
resolver
enst
ENST00000262809
resolver
enst
ENST00000596124
resolver
genesymbol
ELL
resolver
genesymbol_syn
C19orf17
resolver
hgnc
HGNC:23114
resolver
uniprot
U3KQ90
resolver
uniprot_entry
ELL_HUMAN
resolver
uniprot_entry
U3KQ90_HUMAN
resolver
amino_acid_sequence
MAALKEDRSYGLSCGRVSDGSKVSVFHVKLTDSALRAFESYRARQDSVSLRPSIRFQGSQGHISIPQPDCPAEARTFSFYLSNIGRDNPQGSFDCIQQYVSSHGEVHLDCLGSIQDKITVCATDDSYQKARQSMAQAEEETRSRSAIVIKAGGRYLGKKVQFRKPAPGATDAVPSRKRATPINLASAIRKSGASAVSGGSGVSQRPFRDRVLHLLALRPYRKAELLLRLQKDGLTQADKDALDGLLQQVANMSAKDGTCTLQDCMYKDVQKDWPGYSEGDQQLLKRVLVRKLCQPQSTGSLLGDPAASSPPGERGRSASPPQKRLQPPDFIDPLANKKPRISHFTQRAQPAVNGKLGVPNGREALLPTPGPPASTDTLSSSTHLPPRLEPPRAHDPLADVSNDLGHSGRDCEHGEAAAPAPTVRLGLPLLTDCAQPSRPHGSPSRSKPKKKSKKHKDKERAAEDKPRAQLPDCAPATHATPGAPADTPGLNGTCSVSSVPTSTSETPDYLLKYAAISSSEQRQSYKNDFNAEYSEYRDLHARIERITRRFTQLDAQLRQLSQGSEEYETTRGQILQEYRKIKKTNTNYSQEKHRCEYLHSKLAHIKRLIAEYDQRQLQAWP
uniprot
proteins
disease_involvement
DISEASE: Note=A chromosomal aberration involving ELL is found in acute leukemias. Translocation t(11;19)(q23;p13.1) with KMT2A/MLL1. The result is a rogue activator protein. {ECO:0000269|PubMed:7991593}.
uniprot
proteins
function
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. {ECO:0000269|PubMed:16006523, ECO:0000269|PubMed:20159561, ECO:0000269|PubMed:20471948, ECO:0000269|PubMed:22195968, ECO:0000269|PubMed:22252557, ECO:0000269|PubMed:23932780, ECO:0000269|PubMed:8596958}.
uniprot
proteins
mass_dalton
68265
uniprot
proteins
protein_family
ELL/occludin family
uniprot
proteins
pubmed
11418481
uniprot
proteins
pubmed
12446457
uniprot
proteins
pubmed
12686606
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16006523
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20159561
uniprot
proteins
pubmed
20471948
uniprot
proteins
pubmed
22195968
uniprot
proteins
pubmed
22252557
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
22895430
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23932780
uniprot
proteins
pubmed
24413172
uniprot
proteins
pubmed
7991593
uniprot
proteins
pubmed
8596958
uniprot
proteins
sequence_length
621
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11418481, ECO:0000269|PubMed:12446457}. Nucleus speckle {ECO:0000269|PubMed:11418481, ECO:0000269|PubMed:12446457}. Nucleus, Cajal body {ECO:0000269|PubMed:12686606, ECO:0000269|PubMed:22195968, ECO:0000269|PubMed:23932780}. Note=Colocalizes with EAF2 to nuclear speckles (PubMed:12446457). Colocalizes with coilin in subnuclear cajal and histone locus bodies (PubMed:12686606). Translocates in the LEC complex to cajal and histone locus bodies at snRNA genes in a ICE1-dependent manner. Associates to transcriptionally active chromatin at snRNA genes (PubMed:23932780). {ECO:0000269|PubMed:12446457, ECO:0000269|PubMed:12686606, ECO:0000269|PubMed:23932780}.
uniprot
proteins