ELP3 - elongator acetyltransferase complex subunit 3 Gene

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

ELP3 Protein Structure

Radical_SAM

Acetyltransf_1

0
100
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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04330	ELP3 Human Pre-designed siRNA Set A		/	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