ELP4 - elongator acetyltransferase complex subunit 4 Gene

Also Known as AN; AN2; hELP4; PAXNEB; PAX6NEB; C11orf19; dJ68P15A.1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 26610

About ELP4

Cytogenetic location: 11p13 Genomic coordinates (GRCh38): 11:31,509,767-31,790,324 (from NCBI)

This gene has 29 transcripts (splice variants), 212 orthologues and is associated with 2 phenotypes. Ubiquitous expression in kidney (RPKM 4.9), brain (RPKM 4.9) and 25 other tissues.

Summary

This gene encodes a component of the six subunit elongator complex, a Histone Acetyltransferase complex that associates directly with RNA polymerase II during transcriptional elongation. The human gene can partially complement sensitivity phenotypes of yeast ELP4 deletion mutants. This gene has also been associated with Rolandic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

ELP4 Products (3)

mRNA	Protein	Name
NM_001288725.2	NP_001275654.1	elongator complex protein 4 isoform 2
NM_001288726.2	NP_001275655.1	elongator complex protein 4 isoform 3
NM_019040.5	NP_061913.3	elongator complex protein 4 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
contributes to RNA polymerase II complex binding	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	17577209	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	11818576	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	11818576	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
part of transcription elongation factor complex	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

ELP4 Protein Structure

PAXNEB

0
100
200
300
400
424 a.a.

Protein Preferred Names	Protein Names
elongator complex protein 4	PAX6 neighbor gene protein

ELP4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	ELP4	Q96EB1	ELP5	Homo sapiens	Q8TE02	Anti Tag CoIP	33961781
Intra	ELP4	Q96EB1	ELP5	Homo sapiens	Q8TE02	Anti Bait CoIP	22854966
Intra	ELP4	Q96EB1	ELP5	Homo sapiens	Q8TE02	Anti Tag CoIP	22854966

Cross: Cross-species interaction Intra: Intraspecies interaction

ELP4 Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P86870	Elp4 Antibody (YA6563)	WB	Human, Mouse

Related Diseases

Diseases	Alias
Aniridia 2	AN2 Aniridia Type 2 Aniridia, Type 2
Coloboma Of Optic Nerve	Morning Glory Disc Anomaly Coloboma Of Optic Disc Morning Glory Syndrome Ectasic Coloboma Coloboma Of Optic Papilla Congenital Coloboma Of The Optic Nerve Optic Nerve Coloboma Optic Nerve Head Pits, Bilateral Congenital Volubilis Syndrome COLON Coloboma Of Optic Disc, Unspecified Eye Congenital Coloboma Of Optic Disc Optic Disk Coloboma
Foveal Hypoplasia 1	FVH1 Foveal Hypoplasia 1 With Or Without Anterior Segment Anomalies And/Or Cataract Foveal Hypoplasia And Presenile Cataract Syndrome Foveal Hypoplasia With Or Without Anterior Segment Anomalies And/Or Cataract O'Donnell Pappas Syndrome
Keratitis, Hereditary	Keratitis Autosomal Dominant Keratitis Hereditary Keratitis Dominantly Inherited Keratitis Keratitis Hereditary KERH
Aniridia 1	Aniridia Congenital Aniridia AN1 An Cataract With Late-Onset Corneal Dystrophy Aplasia Of Iris Absent Iris Irideremia Aniridia Ii, Formerly An2, Formerly An2 Aniridia Type Ii Aniridia, Type 1 An-1 Absence Of Iris Agenesis Of Iris Congenital Absence Of Iris Hereditary Aniridia Sporadic Aniridia
Coloboma, Ocular, Autosomal Dominant	Coloboma, Ocular Coloboma Of Iris, Choroid, And Retina Coi Coloboma, Uveoretinal COAD Ocular Coloboma Uveoretinal Coloboma Chronic Obstructive Airway Disease
Anterior Segment Dysgenesis 5	Anterior Segment Dysgenesis 5, Multiple Subtypes ASGD5 Dysgenesis, Anterior Segment, Type 5, Multiple Subtypes
Peters-Plus Syndrome	Krause-Kivlin Syndrome Peters Plus Syndrome Peters Anomaly Irido-Corneo-Trabecular Dysgenesis PTRPLS Peters Anomaly With Short-Limb Dwarfism Peters Anomaly-Short Limb Dwarfism Syndrome Peters Anomaly With Short Limb Dwarfism Peters Congenital Glaucoma Krause-Van Schooneveld-Kivlin Syndrome Peters' Plus Syndrome Peters'-Plus Syndrome Anomaly Peters
Optic Nerve Hypoplasia, Bilateral	Optic Nerve Hypoplasia Bilateral Optic Nerve Hypoplasia Optic Nerve Hypoplasia, Familial Bilateral Familial Bilateral Optic Nerve Hypoplasia Isolated Optic Nerve Hypoplasia/Aplasia Optic Nerve Aplasia, Bilateral Onh BONH Bilateral Optic Nerve Aplasia Hypoplasia, Optic Nerve, Bilateral
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome	Wagr Syndrome 11p Partial Monosomy Syndrome Chromosome 11p13 Deletion Syndrome Wilms Tumor, Aniridia, Genitourinary Anomalies And Mental Retardation Syndrome 11p Deletion Syndrome Chromosome 11p Deletion Syndrome Wagr Complex Wilms Tumor-Aniridia-Genitourinary Anomalies-Intellectual Disability Syndrome Deletion 11p13 WAGR Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome Chromosome 11p Deletion 11p Deletion 11p Monosomy Deletion 11p Monosomy 11p Partial Monosomy 11p Agr Triad Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome Wagr Contiguous Gene Syndrome Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome Wilms Tumor-Aniridia-Genitourinary Anomalies-Mr Syndrome Del(11)(P13) Monosomy 11p13 Chromosome 11, Deletion 11p
Coloboma Of Macula	Coloboma Congenital Ocular Coloboma Microphthalmia, Isolated, With Coloboma Agenesis Of Macula Hereditary Macular Coloboma Ocular Coloboma Coloboma Of Eye Macular Coloboma Uveoretinal Coloboma
Hypertelorism	Eyes Wide Apart Eyes Widely Set Hypertelorism Of Orbit Ocular Hypertelorism Orbital Separation Excessive
Landau-Kleffner Syndrome	Acquired Epileptic Aphasia Lks Acquired Aphasia With Convulsive Disorder Acquired Epileptiform Aphasia Landau Kleffner Syndrome Childhood Epileptic Aphasia
Iris Disease	Iris Diseases
Verbal Auditory Agnosia
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
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]
Childhood Electroclinical Syndrome
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
Gillespie Syndrome	GLSP Aniridia, Cerebellar Ataxia And Mental Deficiency Aniridia Cerebellar Ataxia Mental Deficiency Aniridia, Cerebellar Ataxia, And Mental Retardation Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome Aniridia-Cerebellar Ataxia-Intellectual Disability Aniridia-Cerebellar Ataxia-Mental Deficiency Partial Aniridia-Cerebellar Ataxia-Oligophrenia Aniridia, Cerebellar Ataxia, And Intellectual Disability
Juvenile Glaucoma	Glaucoma Of Childhood Hydrophthalmos
Epilepsy, Familial Temporal Lobe, 1	ETL1 Adpeaf Adlte Epilepsy, Partial, With Auditory Features Autosomal Dominant Partial Epilepsy With Auditory Features Epilepsy, Lateral Temporal Lobe, Autosomal Dominant Familial Temporal Lobe Epilepsy 1 Partial Epilepsy With Auditory Features Autosomal Dominant Lateral Temporal Lobe Epilepsy Lateral Temporal Lobe Epilepsy Autosomal Dominant Epilepsy, Temporal Lobe, Familial, Type 1
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
Epilepsy, Myoclonic Juvenile	Juvenile Myoclonic Epilepsy Janz Syndrome Jme Myoclonic Epilepsy, Juvenile, Susceptibility To, 1 EJM Myoclonic Epilepsy, Juvenile Petit Mal, Impulsive Myoclonic Epilepsy, Juvenile 1 Myoclonic Epilepsy, Juvenile, 1 Adolescent Myoclonic Epilepsy Juvenile Myoclonus Epilepsy Juvenile Myoclonic Epilepsy 1 EJM1 Petit Mal Impulsive Susceptibility To Juvenile Myoclonic Epilepsy 1 Myoclonic Epilepsy Juvenile Epilepsy, Myoclonic, Juvenile Myoclonic Epilepsy Of Janz Jme - [Juvenile Myoclonic Epilepsy]
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Adnfle Autosomal Dominant Sleep-Related Hypermotor Epilepsy Enfl Benign Familial Infantile Seizures 6 Benign Familial Infantile Seizures, 6 Nocturnal Frontal Lobe Epilepsy-4 Enfl1 Epilepsy, Nocturnal Frontal Lobe, 1 Epilepsy, Nocturnal Frontal Lobe, Type 1
Anterior Segment Dysgenesis	Anterior Segment Developmental Anomaly Anterior Segment Mesenchymal Dysgenesis Corneal Opacification And Other Ocular Anomalies Sclerocornea With Other Ocular Anomalies Asmd Asod Anterior Segment Ocular Dysgenesis Foxe3-Related Ocular Disorder Familial Ocular Anterior Segment Mesenchymal Dysgenesis Dysgenesis, Anterior Segment Irido-Corneal Dysgenesis Axenfeld-Rieger Syndrome, Type 3
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic

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

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS04331	ELP4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	ELP4	VGNC	VGNC:108120
Rattus norvegicus	ELP4	RGD	RGD:1566052
Bos taurus	ELP4	VGNC	VGNC:28457
Mus musculus	ELP4	MGD	MGI:1925016
Felis catus	ELP4	VGNC	VGNC:61828
Others	ELP4	NCBI