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ELL elongation factor for RNA polymerase II [ Homo sapiens (human) ]

Gene ID: 8178, updated on 15-Apr-2019

Summary

Official Symbol
ELLprovided by HGNC
Official Full Name
elongation factor for RNA polymerase IIprovided by HGNC
Primary source
HGNC:HGNC:23114
See related
Ensembl:ENSG00000105656 MIM:600284
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MEN; ELL1; PPP1R68; C19orf17
Expression
Broad expression in bone marrow (RPKM 9.4), testis (RPKM 9.4) and 25 other tissues See more
Orthologs

Genomic context

See ELL in Genome Data Viewer
Location:
19p13.11
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (18442663..18522127, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (18553473..18632937, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene leucine rich repeat containing 25 Neighboring gene single stranded DNA binding protein 4 Neighboring gene inositol-3-phosphate synthase 1 Neighboring gene FKBP prolyl isomerase 8 Neighboring gene KxDL motif containing 1 Neighboring gene ubiquitin A-52 residue ribosomal protein fusion product 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
NHGRI GWA Catalog
An atlas of genetic influences on human blood metabolites.
NHGRI GWA Catalog
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat forms at least two distinct P-TEFb-containing complexes. Tatcom1 is composed of P-TEFb, AF9, ENL, ELL, AFF1, AFF4, and PAF1, presenting strong CTD-kinase activity, while Tatcom2 consists of 7SK, LARP7, and MEPCE with two molecules of Tat/P-TEFb PubMed
tat HIV-1 Tat directly interacts with ELL as demonstrated by Tat-affinity column purification PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp434I1916

Gene Ontology Provided by GOA

Function Evidence Code Pubs
phosphatase binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
Cajal body IDA
Inferred from Direct Assay
more info
PubMed 
histone locus body IDA
Inferred from Direct Assay
more info
PubMed 
nuclear speck IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
transcription elongation factor complex IDA
Inferred from Direct Assay
more info
PubMed 
transcriptionally active chromatin IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
RNA polymerase II elongation factor ELL
Names
ELL gene (11-19 lysine-rich leukemia gene)
eleven-nineteen lysine-rich leukemia protein
elongation factor RNA polymerase II
protein phosphatase 1, regulatory subunit 68

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_006532.4NP_006523.1  RNA polymerase II elongation factor ELL

    See identical proteins and their annotated locations for NP_006523.1

    Status: VALIDATED

    Source sequence(s)
    BC033673, BI458899, U16282
    Consensus CDS
    CCDS12380.1
    UniProtKB/Swiss-Prot
    P55199
    Related
    ENSP00000262809.3, ENST00000262809.9
    Conserved Domains (2) summary
    pfam07303
    Location:516613
    Occludin_ELL; Occludin homology domain
    pfam10390
    Location:6290
    ELL; RNA polymerase II elongation factor ELL

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    18442663..18522127 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017027335.1XP_016882824.1  RNA polymerase II elongation factor ELL isoform X1

    UniProtKB/TrEMBL
    U3KQ90
    Related
    ENSP00000475648.2, ENST00000596124.3
  2. XM_017027337.2XP_016882826.1  RNA polymerase II elongation factor ELL isoform X4

  3. XM_017027336.1XP_016882825.1  RNA polymerase II elongation factor ELL isoform X2

  4. XM_011528330.3XP_011526632.2  RNA polymerase II elongation factor ELL isoform X3

RNA

  1. XR_001753769.2 RNA Sequence

    Related
    ENST00000594635.6
  2. XR_936207.3 RNA Sequence

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