ELP1 - elongator acetyltransferase complex subunit 1 Gene

Homo sapiens

Also known as FD; DYS; IKAP; IKI3; TOT1; IKBKAP

Gene ID: 8518 | Gene type: protein coding

About ELP1

Cytogenetic location: 9q31.3 Genomic coordinates (GRCh38): 9:108,867,517-108,934,124 (from NCBI)

This gene has 48 transcripts (splice variants), 230 orthologues and is associated with 5 phenotypes. Ubiquitous expression in adrenal (RPKM 22.4), ovary (RPKM 14.7) and 25 other tissues.

Summary

The protein encoded by this gene is a scaffold protein and a regulator for three different kinases involved in proinflammatory signaling. The encoded protein can bind NF-kappa-B-inducing kinase and I-kappa-B kinases through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

ELP1 Products(3)

mRNA	Protein	Name
NM_001318360.2	NP_001305289.1	elongator complex protein 1 isoform 2
NM_001330749.2	NP_001317678.1	elongator complex protein 1 isoform 3
NM_003640.5	NP_003631.2	elongator complex protein 1 isoform 1

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	11714725	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

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

ELP1 Protein Structure

IKI3

0
300
600
900
1200
1332 a.a.

Protein Preferred Names

Protein Names

elongator complex protein 1

IKK complex-associated protein

ELP1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	ELP1	O95163	ELP3	Homo sapiens	Q9H9T3	Anti Bait CoIP	19185337
Intra	ELP1	O95163	ELP3	Homo sapiens	Q9H9T3	Anti Bait CoIP	11714725
Intra	ELP1	O95163	ELP3	Homo sapiens	Q9H9T3	GMS	22854966
Intra	ELP1	O95163	ELP3	Homo sapiens	Q9H9T3	Anti Tag CoIP	19185337
Intra	ELP1	O95163	ELP3	Homo sapiens	Q9H9T3	Chromatography	11714725
Intra	ELP1	O95163	HTT	Homo sapiens	P42858	Pull Down	15383276

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

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]

Medulloblastoma

MDB	Cpnet
Localized Primitive Neuroectodermal Tumor	Classic Medulloblastoma
Medulloblastoma Predisposition Syndrome	Medulloblastoma, Somatic
Brain Medulloblastoma	Cns Pnet
Infratentorial Primitive Neuroectodermal Tumor	Neuroectodermal Tumors, Primitive
Medulloblastomas	Desmoplastic Medulloblastoma
Medulloblastoma, With Extensive Nodularity	Medulloblastoma Of Unspecified Site
Medullomyoblastoma Of Unspecified Site

Autonomic Neuropathy

Diabetic Autonomic Neuropathy

Dysautonomia

Neuropathy, Hereditary Sensory And Autonomic, Type Iia

Hereditary Sensory And Autonomic Neuropathy Type 2	Hsan2
HSAN2A	Morvan Disease
Hereditary Sensory And Autonomic Neuropathy Type Ii	Neurogenic Acroosteolysis
Hsan Iia	Hsn2a
Hsn Iia	Neuropathy, Progressive Sensory, Of Children
Neuropathy, Congenital Sensory	Neuropathy, Hereditary Sensory And Autonomic, Type Ii
Hereditary Sensory And Autonomic Neuropathy Type 2a	Hereditary Sensory And Autonomic Neuropathy Type Iia
Hsanii	Congenital Sensory Neuropathy
Hsan Type Ii	Morvan Syndrome
Neuropathy, Hereditary Sensory And Autonomic, Type 2a	Morvan'S Disease
Neuropathy, Hereditary Sensory, Type Iia	Acroosteolysis, Neurogenic
Acroosteolysis, Giaccai Type	Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive
Hereditary Sensory Autonomic Neuropathy Type 2	Giaccai Type Acroosteolysis
Hereditary Sensory Neuropathy Type 2	Hereditary Sensory Radicular Neuropathy, Recessive Form
Hsan2b	Hsan2c
Hsan2d	Hsn Type Ii
Autosomal Recessive Sensory Radicular Neuropathy	Limbic Encephalitis-Neuromyotonia-Hyperhidrosis-Polyneuropathy Syndrome
Morvan Fibrillary Chorea	Neuropathy, Hereditary Sensory And Autonomic, 2a
Acroosteolysis Giaccai Type	Hereditary Sensory Neuropathy Type Iia
Hereditary Sensory Radicular Neuropathy Autosomal Recessive	Progressive Sensory Neuropathy Of Children
Neuropathy Congenital Sensory	Charcot-Marie-Tooth Disease
Neuropathy, Sensory And Autonomic, Hereditary, Type Iia	Hereditary Sensory Autonomic Neuropathy, Type 2
Hereditary Motor And Sensory-Neuropathy Type Ii	Sensory Neuropathy, Hereditary
Neuropathy, Hereditary Sensory And Autonomic, Type Iib

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]

Neuropathy

Peripheral Neuropathy

Peripheral Neuropathies

Neuropathy, Hereditary Sensory And Autonomic, Type Viii

HSAN8	Hsan Viii
Hereditary Sensory And Autonomic Neuropathy Type 8	Hereditary Sensory And Autonomic Neuropathy Type Viii
Neuropathy, Hereditary Sensory And Autonomic, 8	Neuropathy, Sensory And Autonomic, Hereditary, Type Viii

Hermansky-Pudlak Syndrome 7

HPS7	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial
Delta Storage Pool Disease	Hermansky-Pudlak Syndrome, Type 7
Platelet Storage Pool Deficiency	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Neuropathy, Hereditary Sensory And Autonomic, Type Ia

HSAN1A	Hsan Ia
Hsan1	Hsn Ia
Hereditary Sensory And Autonomic Neuropathy Type 1a	Neuropathy, Hereditary Sensory And Autonomic, Type 1a
Neuropathy, Hereditary Sensory, Type Ia	Hsn1a
Neuropathy, Hereditary Sensory Radicular, Autosomal Dominant, Type 1a	Hereditary Sensory And Autonomic Neuropathy Type Ia
Neuropathy, Hereditary Sensory And Autonomic, 1a	Hereditary Sensory Neuropathy Type Ia
Hereditary Sensory Radicular Neuropathy Autosomal Dominant Type 1a	Hsn1
Neuropathy, Sensory And Autonomic, Hereditary, Type 1a	Hereditary Sensory Autonomic Neuropathy, Type 1

Neuropathy, Hereditary Sensory And Autonomic, Type V

HSAN5	Hereditary Sensory And Autonomic Neuropathy Type V
Hsan V	Hereditary Sensory And Autonomic Neuropathy Type 5
Congenital Insensitivity To Pain	Congenital Sensory Neuropathy With Selective Loss Of Small Myelinated Fibers
Hsan Type V	Insensitivity To Pain, Congenital
Hereditary Sensory And Autonomic Neuropathy, Type 5	Congenital Insensitivity To Pain And Thermal Analgesia
Neuropathy, Hereditary Sensory And Autonomic, 5	Hereditary Sensory Neuropathy Type V
Hsn V	Pain Insensitivity, Congenital
Neuropathy, Sensory And Autonomic, Hereditary, Type V	Hereditary Sensory Autonomic Neuropathy, Type 5
Hsan5 - [Hereditary Sensory And Autonomic Neuropathy Type 5]

Neuropathy, Hereditary Sensory And Autonomic, Type Vi

Hereditary Sensory And Autonomic Neuropathy Type 6	HSAN6
Hsan Vi	Hereditary Sensory And Autonomic Neuropathy Type Vi
Familial Dysautonomia With Contractures	Neuropathy, Hereditary Sensory And Autonomic, 6
Hereditary Sensory Neuropathy Type Vi	Hsn Vi
Neuropathy, Sensory And Autonomic, Hereditary, Type Vi

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

Hereditary Sensory And Autonomic Neuropathy Type 1

Hereditary Sensory And Autonomic Neuropathy Type I	Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome
Hsan1e	Hsan1
Dnmt1-Related Dementia, Deafness, And Sensory Neuropathy	Hsn1e
Hsnie	Hereditary Sensory Neuropathy Type Ie
Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome	Hereditary Sensory And Autonomic Neuropathy Type Ie
Hereditary Sensory And Autonomic Neuropathy Type 1e	Hereditary Sensory Neuropathy With Hearing Loss And Dementia
Dnmt1-Complex Disorder	Hereditary Sensory And Autonomic Neuropathy Type 1 With Dementia And Hearing Loss
Hsn Ie	Hereditary Sensory Autonomic Neuropathy, Type 1
Hsan1- [Hereditary Sensory And Autonomic Neuropathy Type I]

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Charcot-Marie-Tooth Disease Type 4	Charcot-Marie-Tooth Disease Type 4e
Hereditary Motor And Sensory Neuropathy	Cmt4e
CHN1	Hypomyelinating Neuropathy, Congenital, 1
Charcot-Marie-Tooth Neuropathy Type 4e	Neuropathy, Congenital Hypomyelinating, 1
Ar-Cmt1	Autosomal Recessive Demyelinating Charcot-Marie-Tooth
Cmt4	Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive
Hypomyelination, Severe Congenital	Charcot-Marie-Tooth Disease, Type 4e
Charcot-Marie-Tooth Neuropathy, Type 4e	Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy
Autosomal Recessive Congenital Hypomyelinating Neuropathy	Congenital Amyelinating Neuropathy
Congenital Hypomyelinating Neuropathy Autosomal Recessive	Neuropathy, Congenital Hypomyelinating Or Amyelinating
Severe Congenital Hypomyelination	Hereditary Sensory Motor Neuropathy
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive	Neuropathy, Hypomyelinating, Congenital, Type 1
Neuropathy, Motor And Sensory, Hereditary	Congenital Hypomyelinating Neuropathy
Hereditary Motor And Sensory Neuropathies	Hereditary Sensorimotor Neuropathy
Hmsn - [Hereditary Motor And Sensory Neuropathy]	Hsmn - [Hereditary Sensory And Motor Neuropathy]
Hereditary Motor And Sensory Neuropathy, Types I-Iv

Peripheral Nervous System Disease

Peripheral Neuropathy	Peripheral Nerve Disease
Peripheral Nerve Disorders	Neuropathy, Peripheral
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Hirschsprung Disease 1

Hirschsprung Disease	Aganglionic Megacolon
Hscr	Hirschsprung'S Disease
Congenital Megacolon	Congenital Intestinal Aganglionosis
Colonic Aganglionosis	Hirschsprung Disease, Susceptibility To, 1
Hirschsprung Disease, Protection Against	HSCR1
Mgc	Pelvirectal Achalasia
Total Intestinal Aganglionosis	Megacolon, Aganglionic
Macrocolon	Hscr 1
Hirschsprung Disease Type 1	Hirschsprung Disease, Type 1
Congenital Dilatation Of Colon	Aganglionosis
Congenital Aganglionic Megacolon	Aganglionosis Of Colon
Bowel Aganglionosis	Colon Aganglionosis
Hirschsprung Megacolon

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-147149	BPN-15477	Modulator	99.80%	Unkown
HY-148772	PTC258	Modulator	98.72%	Unkown
HY-RS04328	ELP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	ELP1	VGNC	VGNC:67751
Canis familiaris	ELP1	VGNC	VGNC:40326
Mus musculus	ELP1	MGD	MGI:1914544
Rattus norvegicus	ELP1	RGD	RGD:620072
Bos taurus	ELP1	VGNC	VGNC:28454
Macaca mulatta	ELP1	VGNC	VGNC:72257
Macaca fascicularis	ELP1	NCBI	NCBI:102135106
Others	ELP1	NCBI

Name
Email *

	Sorry, but the email address you supplied was invalid.