2. Gene
  3. ELP3 - elongator acetyltransferase complex subunit 3 Gene

ELP3 - elongator acetyltransferase complex subunit 3 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as KAT9

Gene ID: 55140 | Gene type: protein coding

About ELP3

Cytogenetic location: 8p21.1 Genomic coordinates (GRCh38): 8:28,090,232-28,191,153 (from NCBI)

This gene has 20 transcripts (splice variants) and 202 orthologues. Ubiquitous expression in brain (RPKM 10.1), endometrium (RPKM 9.6) and 25 other tissues.

Summary

ELP3 is the catalytic subunit of the Histone Acetyltransferase elongator complex, which contributes to transcript elongation and also regulates the maturation of projection neurons (Creppe et al., 2009 [PubMed 19185337]).[supplied by OMIM, Apr 2009]

ELP3 Products(6)

mRNA Protein Name
NM_001284220.2 NP_001271149.1 elongator complex protein 3 isoform 2
NM_001284222.2 NP_001271151.1 elongator complex protein 3 isoform 3
NM_001284224.2 NP_001271153.1 elongator complex protein 3 isoform 4
NM_001284225.2 NP_001271154.1 elongator complex protein 3 isoform 4
NM_001284226.2 NP_001271155.1 elongator complex protein 3 isoform 5
NM_018091.6 NP_060561.3 elongator complex protein 3 isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables acetyltransferase activity IDA
IDA: Inferred from direct assay
11714725 GOA
enables phosphorylase kinase regulator activity IDA
IDA: Inferred from direct assay
11818576 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
11714725 GOA
Biological Process GO Annotation Evidence Reference Source
involved in regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
11818576 GOA
involved in tRNA wobble uridine modification IDA
IDA: Inferred from direct assay
29415125 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cytoplasm IDA
IDA: Inferred from direct assay
11714725 GOA
part of elongator holoenzyme complex IDA
IDA: Inferred from direct assay
22854966 GOA
part of elongator holoenzyme complex IPI
IPI: Inferred from physical interaction
22854966 GOA
located in nucleolus IDA
IDA: Inferred from direct assay
11714725 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

ELP3 Protein Structure

Radical_SAM

Radical_SAM: Radical SAM superfamily (107 - 293)

Acetyltransf_1

Acetyltransf_1: Acetyltransferase (GNAT) family (442 - 536)

  • 0
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  • 200
  • 300
  • 400
  • 500
  • 547 a.a.
Protein Preferred Names Protein Names

elongator complex protein 3

elongation protein 3 homolog

Related Diseases

Diseases Alias
Dysautonomia
Neuropathy, Hereditary Sensory And Autonomic, Type Iii

Familial Dysautonomia

Riley-Day Syndrome

Dysautonomia, Familial

HSAN3

Hsan Iii

Fd

Hereditary Sensory And Autonomic Neuropathy Type Iii

Dys

Hereditary Sensory And Autonomic Neuropathy 3

Riley Day Syndrome

Familial Autonomic Nervous Dysfunction

Hereditary Sensory Autonomic Neuropathy Type Iii

Hsan 3

Hsn 3

Hereditary Sensory Neuropathy Type 3

Hsan Type Iii

Hsn-Iii

Hereditary Sensory And Autonomic Neuropathy Type 3

Neuropathy, Hereditary Sensory And Autonomic, 3

Hsn Iii

Dysautonomia Familial

Neuropathy, Sensory And Autonomic, Hereditary, Type Iii

Hsan3 - [Hereditary Sensory And Autonomic Neuropathy Type 3]
Hereditary Sensory Neuropathy

Hereditary Sensory And Autonomic Neuropathy

Hereditary Sensory And Autonomic Neuropathies

Familial Dysautonomia, Type Ii

Hsan

Sensory Neuropathy Hereditary

Neuropathy, Sensory And Autonomic, Hereditary

Neuropathy, Sensory, Hereditary

Sensory Neuropathy, Hereditary

Charcot-Marie-Tooth Disease

Cmt - [Charcot-Marie-Tooth Disease]
Hemochromatosis, Type 1

Hemochromatosis

Hemochromatosis Type 1

Hereditary Hemochromatosis

Hh

HFE1

Hfe Hemochromatosis, Modifier Of

Symptomatic Form Of Classic Hemochromatosis

Symptomatic Form Of Hemochromatosis Type 1

Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis

Haemochromatosis

Iron Storage Disorder

Bronze Diabetes

Hereditary Haemochromatosis

Hlah

Hfe

Hemochromatosis, Hereditary

Diabetes Bronze

Classic Hemochromatosis

Hfe-Associated Hereditary Hemochromatosis

Hemochromatosis Classic

Bronzed Cirrhosis

Familial Hemochromatosis

Genetic Hemochromatosis

Hc

Pigmentary Cirrhosis

Primary Hemochromatosis

Troisier-Hanot-Chauffard Syndrome

Von Recklenhausen-Applebaum Disease

Hemochromatosis 1

Primary Hereditary Hemochromatosis

Bronze Cirrhosis
Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy

Benign Rolandic Epilepsy

Epilepsy, Rolandic

Bcects

Benign Childhood Epilepsy With Centrotemporal Spike

Sylvan Seizures

Becrs

Bects

Bre

Benign Epilepsy Of Childhood With Centrotemporal Spikes

Benign Familial Epilepsy Of Childhood With Rolandic Spikes

Centrotemporal Epilepsy
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

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS04330 ELP3 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris ELP3 VGNC VGNC:40328
Macaca mulatta ELP3 VGNC VGNC:72080
Bos taurus ELP3 VGNC VGNC:28456
Mus musculus ELP3 MGD MGI:1921445
Rattus norvegicus ELP3 RGD RGD:2324506
Felis catus ELP3 VGNC VGNC:61827