ELP3 - elongator acetyltransferase complex subunit 3 Gene

Also Known as KAT9

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55140

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
Molecular Function GO Annotation Evidence References 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 References 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 References 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
  • 100
  • 200
  • 300
  • 400
  • 500
  • 547 a.a.
Protein Preferred Names Protein Names

elongator complex protein 3

  • elongation protein 3 homolog

ELP3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ELP3 Q9H9T3 ELP1 Homo sapiens O95163 33961781
Intra
ELP3 Q9H9T3 ELP1 Homo sapiens O95163 22854966
Intra
ELP3 Q9H9T3 ELP1 Homo sapiens O95163 11714725
Intra
ELP3 Q9H9T3 ELP1 Homo sapiens O95163 19185337
Cross: Cross-species interaction Intra: Intraspecies interaction

ELP3 Antibodies

Cat. No. Product Name Application Reactivity
HY-P83637 KAT9 Antibody (YA3382) WB, ICC/IF, IP Human, Mouse, Rat

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

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
Others ELP3 NCBI