ELL - elongation factor for RNA polymerase II Gene

Also Known as MEN; ELL1; PPP1R68; C19orf17

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 8178

About ELL

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:18,442,663-18,522,070 (from NCBI)

This gene has 6 transcripts (splice variants), 252 orthologues, 5 paralogues and is associated with 61 phenotypes. Broad expression in bone marrow (RPKM 9.4), testis (RPKM 9.4) and 25 other tissues.

Summary

Enables Phosphatase binding activity. Involved in positive regulation of transcription, DNA-templated and snRNA transcription. Located in cytosol; nuclear body; and transcriptionally active chromatin. Part of transcription elongation factor complex. [provided by Alliance of Genome Resources, Apr 2022]

ELL Products (1)

mRNA Protein Name
NM_006532.4 NP_006523.1 RNA polymerase II elongation factor ELL
Molecular Function GO Annotation Evidence References Source
enables phosphatase binding IDA
IDA: Inferred from direct assay
19389623 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
19389623 GOA
Biological Process GO Annotation Evidence References Source
involved in positive regulation of transcription by RNA polymerase III IMP
IMP: Inferred from mutant phenotype
23932780 GOA
involved in positive regulation of transcription elongation by RNA polymerase II IMP
IMP: Inferred from mutant phenotype
23932780 GOA
involved in snRNA transcription by RNA polymerase II IMP
IMP: Inferred from mutant phenotype
22195968 GOA
involved in snRNA transcription by RNA polymerase III IMP
IMP: Inferred from mutant phenotype
23932780 GOA
Cellular Component GO Annotation Evidence References Source
located in Cajal body IDA
IDA: Inferred from direct assay
22195968 GOA
located in euchromatin IDA
IDA: Inferred from direct assay
23932780 GOA
located in histone locus body IDA
IDA: Inferred from direct assay
23932780 GOA
located in nuclear speck IDA
IDA: Inferred from direct assay
19389623 GOA
part of transcription elongation factor complex IDA
IDA: Inferred from direct assay
22195968 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ELL Protein Structure

ELL

ELL: RNA polymerase II elongation factor ELL (6 - 292)

Occludin_ELL

Occludin_ELL: Occludin homology domain (513 - 614)

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  • 621 a.a.
Protein Preferred Names Protein Names

RNA polymerase II elongation factor ELL

  • ELL gene (11-19 lysine-rich leukemia gene)

ELL Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ELL P55199 PPP1CA Homo sapiens P62136 19389623
Intra
ELL P55199 PPP1CA Homo sapiens P62136 19389623
Intra
ELL P55199 ICE2 Homo sapiens Q659A1 22195968
Intra
ELL P55199 SNF8 Homo sapiens Q96H20 19819239
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Leukemia
  • Leukemias

  • Leukaemia, Unspecified, Without Mention Of Remission

  • Aleukemic Leukaemia

  • Chronic Leukaemia

  • Subacute Leukaemia

  • Leukaemia Disorder

  • Leukaemia Nos

Myeloid Leukemia
  • Myeloid Leukaemia

  • Leukaemia Myelogenous

  • Leukemia Myelogenous

  • Myeloid Granulocytic Leukaemia

  • Myeloid Granulocytic Leukemia

  • Non-Lymphocytic Leukemia

  • Leukemia, Myeloid

  • Granulocytic Leukaemia

  • Myelogenous Leukaemia

  • Myeloid Leukaemia, Unspecified, Without Mention Of Remission

Acute Biphenotypic Leukemia
  • Mixed Phenotype Acute Leukemia

  • Acute Leukemia Of Ambiguous Lineage

  • Acute Undifferentiated Leukemia

  • Acute Leukemia Of Indeterminate Lineage

  • Hybrid Acute Leukemia

  • Mixed Lineage Acute Leukemia

  • All With Myeloid Markers

  • Aml With Lymphoid Markers

  • Acute Leukemia Of Undetermined Lineage

  • Bal

  • Biphenotypic Acute Leukemia

  • Undifferentiated Acute Leukemia

  • Mpal

  • Acute Myeloid Leukemia, Minimal Differentiation, Fab M0

  • Leukemia, Biphenotypic, Acute

Leukemia, Acute Myeloid
  • Acute Myeloid Leukemia

  • Leukemia, Acute Myelogenous

  • Acute Myelogenous Leukemia

  • AML

  • Leukemia, Acute Myeloid, Susceptibility To

  • Acute Myeloblastic Leukemia

  • Leukemia, Acute Myeloid, Reduced Survival In, Somatic

  • Acute Myeloid Leukaemia

  • Leukemia, Myelocytic, Acute

  • Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome

  • Secondary Aml

  • Acute Myelocytic Leukemia

  • Acute Myeloid Leukemia, Somatic

  • Leukemia, Acute Myeloid, Somatic

  • Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic

  • Acute Myeloblastic Leukaemia

  • Acute Myelogenous Leukaemia

  • Aml - Acute Myeloid Leukemia

  • Acute Myeloid Leukemia With Cebpa Somatic Mutations

  • Aml With Cebpa Somatic Mutations

  • Inherited Acute Myeloid Leukemia

  • Familial Aml

  • Inherited Aml

  • Pure Familial Aml

  • Pure Familial Acute Myeloid Leukemia

  • Secondary Acute Myeloid Leukemia

  • Therapy-Related Aml And Myelodysplastic Syndrome

  • Acute Myeloid Leukemia, Secondary

  • Acute Non-Lymphoblastic Leukemia

  • Acute Non-Lymphocytic Leukemia

  • Acute Biphenotypic Leukemia

  • Acute Undifferentiated Leukemia

  • Acute Myeloblastic Leukaemia With Multilineage Dysplasia

  • Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission

  • Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris ELL VGNC VGNC:40306
Mus musculus ELL MGD MGI:109377
Bos taurus ELL VGNC VGNC:28435
Felis catus ELL VGNC VGNC:61813
Macaca mulatta ELL VGNC VGNC:72088
Rattus norvegicus ELL RGD RGD:1311121
Others ELL NCBI