ELP1 Gene (Protein Coding)

Elongator Complex Protein 1

GC09M108868
GIFtS:
33
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 splici... See more...

Aliases for ELP1 Gene

Aliases for ELP1 Gene

  • Elongator Complex Protein 1 2 3 4 5
  • IKAP 2 3 4
  • Inhibitor Of Kappa Light Polypeptide Gene Enhancer In B-Cells, Kinase Complex-Associated Protein 2 3
  • Elongator Acetyltransferase Complex Subunit 1 2 3
  • IkappaB Kinase Complex-Associated Protein 3 4
  • IKK Complex-Associated Protein 3 4
  • IKBKAP 3 4
  • IKI3 2 3
  • TOT1 2 3
  • Dysautonomia (Riley-Day Syndrome, Hereditary Sensory Autonomic Neuropathy Type III) 2
  • ELP1 5
  • P150 4
  • DYS 3
  • FD 3

External Ids for ELP1 Gene

Previous HGNC Symbols for ELP1 Gene

  • DYS
  • IKBKAP

Summaries for ELP1 Gene

Entrez Gene Summary for ELP1 Gene

  • 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]

GeneCards Summary for ELP1 Gene

ELP1 (Elongator Complex Protein 1) is a Protein Coding gene. Diseases associated with ELP1 include Neuropathy, Hereditary Sensory And Autonomic, Type Iii and Charcot-Marie-Tooth Disease/Hereditary Motor And Sensory Neuropathy. Among its related pathways are Chromatin organization and Transcription_NF-kB signaling pathway.

UniProtKB/Swiss-Prot Summary for ELP1 Gene

  • Component of the RNA polymerase II elongator complex, a multiprotein complex associated with the RNA polymerase II (Pol II) holoenzyme, and which is involved in transcriptional elongation (PubMed:11714725, PubMed:11818576). The elongator complex catalyzes formation of carboxymethyluridine in the wobble base at position 34 in tRNAs (PubMed:29332244). Involved in neurogenesis (By similarity). Regulates the migration and branching of projection neurons in the developing cerebral cortex, through a process depending on alpha-tubulin acetylation (By similarity). May act as a scaffold protein that may assemble active IKK-MAP3K14 complexes (IKKA, IKKB and MAP3K14/NIK) (PubMed:9751059).

Additional gene information for ELP1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ELP1 Gene

Genomics for ELP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for ELP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ELP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ELP1

Genomic Locations for ELP1 Gene

Genomic Locations for ELP1 Gene
chr9:108,867,517-108,934,135
(GRCh38/hg38)
Size:
66,619 bases
Orientation:
Minus strand
chr9:111,629,797-111,696,608
(GRCh37/hg19)
Size:
66,812 bases
Orientation:
Minus strand

Genomic View for ELP1 Gene

Genes around ELP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ELP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ELP1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ELP1 Gene

Proteins for ELP1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for ELP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95163-ELP1_HUMAN
    Recommended name:
    Elongator complex protein 1
    Protein Accession:
    O95163
    Secondary Accessions:
    • Q5JSV2
    • Q9H327
    • Q9UG87

    Protein attributes for ELP1 Gene

    Size:
    1332 amino acids
    Molecular mass:
    150254 Da
    Quaternary structure:
    • Component of the RNA polymerase II elongator complex (Elongator), which consists of ELP1, STIP1/ELP2, ELP3, ELP4, ELP5 and ELP6 (PubMed:11714725, PubMed:11818576, PubMed:22854966). Elongator associates with the C-terminal domain (CTD) of Pol II largest subunit (PubMed:11714725, PubMed:11818576, PubMed:22854966). Interacts with ELP3 (PubMed:11818576). Interacts preferentially with MAP3K14/NIK followed by IKK-alpha and IKK-beta (PubMed:9751059).
    SequenceCaution:
    • Sequence=CAB43219.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ELP1 Gene

neXtProt entry for ELP1 Gene

Post-translational modifications for ELP1 Gene

  • Ubiquitination at Lys464, Lys474, and Lys706
  • Modification sites at PhosphoSitePlus

Other Protein References for ELP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ELP1 Gene

Domains & Families for ELP1 Gene

Gene Families for ELP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for ELP1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ELP1 Gene

GenScript: Design optimal peptide antigens:
  • p150 (ELP1_HUMAN)
  • Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (Q8N516_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95163

UniProtKB/Swiss-Prot:

ELP1_HUMAN :
  • Belongs to the ELP1/IKA1 family.
Family:
  • Belongs to the ELP1/IKA1 family.
genes like me logo Genes that share domains with ELP1: view

Function for ELP1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for ELP1 Gene

UniProtKB/Swiss-Prot Function:
Component of the RNA polymerase II elongator complex, a multiprotein complex associated with the RNA polymerase II (Pol II) holoenzyme, and which is involved in transcriptional elongation (PubMed:11714725, PubMed:11818576). The elongator complex catalyzes formation of carboxymethyluridine in the wobble base at position 34 in tRNAs (PubMed:29332244). Involved in neurogenesis (By similarity). Regulates the migration and branching of projection neurons in the developing cerebral cortex, through a process depending on alpha-tubulin acetylation (By similarity). May act as a scaffold protein that may assemble active IKK-MAP3K14 complexes (IKKA, IKKB and MAP3K14/NIK) (PubMed:9751059).

Phenotypes From GWAS Catalog for ELP1 Gene

Gene Ontology (GO) - Molecular Function for ELP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000049 tRNA binding IBA 21873635
GO:0005515 protein binding IPI 11714725
genes like me logo Genes that share ontologies with ELP1: view
genes like me logo Genes that share phenotypes with ELP1: view

Human Phenotype Ontology for ELP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ELP1 Gene

MGI Knock Outs for ELP1:
  • Elp1 Elp1<tm1.1Id>
  • Elp1 Elp1<tm1a(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ELP1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ELP1 Gene

Localization for ELP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ELP1 Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ELP1 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
lysosome 2
peroxisome 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ELP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA,IDA 11714725
GO:0005829 cytosol IDA --
GO:0033588 Elongator holoenzyme complex IEA,IDA 22854966
genes like me logo Genes that share ontologies with ELP1: view

Pathways & Interactions for ELP1 Gene

genes like me logo Genes that share pathways with ELP1: view

Pathways by source for ELP1 Gene

1 GeneGo (Thomson Reuters) pathway for ELP1 Gene
  • Transcription_NF-kB signaling pathway
1 Cell Signaling Technology pathway for ELP1 Gene
1 GeneTex pathway for ELP1 Gene

UniProtKB/Swiss-Prot O95163-ELP1_HUMAN

  • Pathway: tRNA modification; 5-methoxycarbonylmethyl-2-thiouridine-tRNA biosynthesis.

SIGNOR curated interactions for ELP1 Gene

Activates:

Gene Ontology (GO) - Biological Process for ELP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002098 tRNA wobble uridine modification IEA --
GO:0002926 tRNA wobble base 5-methoxycarbonylmethyl-2-thiouridinylation IBA 21873635
GO:0008033 tRNA processing IEA --
genes like me logo Genes that share ontologies with ELP1: view

Drugs & Compounds for ELP1 Gene

Products:

  1. Drug

(3) Drugs for ELP1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for ELP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ELP1: view

Transcripts for ELP1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ELP1 Gene

3 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ELP1

Alternative Splicing Database (ASD) splice patterns (SP) for ELP1 Gene

No ASD Table

Relevant External Links for ELP1 Gene

GeneLoc Exon Structure for
ELP1

Expression for ELP1 Gene

Products:

  1. Primer

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ELP1

Evidence on tissue expression from TISSUES for ELP1 Gene

  • Nervous system(4.9)
  • Liver(4.6)
  • Heart(3)
  • Skin(2.9)
  • Muscle(2.9)
  • Lung(2.8)
  • Blood(2.7)
  • Adrenal gland(2.7)
  • Intestine(2.5)
  • Eye(2.5)
  • Kidney(2.5)
  • Pancreas(2.4)
  • Thyroid gland(2.3)
  • Stomach(2.3)
  • Lymph node(2.2)
  • Spleen(2.1)
  • Bone marrow(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ELP1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • head
  • lacrimal apparatus
  • mouth
  • pharynx
  • tongue
Thorax:
  • bronchus
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • trachea
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • rectum
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • sweat gland
  • vertebrae
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for ELP1 Gene

Orthologs for ELP1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ELP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia IKBKAP 30 31
  • 97.69 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia IKBKAP 30 31
  • 89.09 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia IKBKAP 30 31
  • 87.33 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Ikbkap 30 31
  • 83.43 (n)
 OneToOne
Elp1 17
Rat
(Rattus norvegicus)
 Mammalia Ikbkap 30
  • 83.31 (n)
Oppossum
(Monodelphis domestica)
 Mammalia IKBKAP 31
  • 79 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia IKBKAP 31
  • 75 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves IKBKAP 30 31
  • 68.42 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 68 (a)
 OneToMany
-- 31
  • 64 (a)
 OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia ikbkap 30
  • 65.35 (n)
Zebrafish
(Danio rerio)
 Actinopterygii ikbkap 30 31
  • 61.11 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP003979 30
  • 45.77 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta Elp1 30 31
  • 44.96 (n)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea elpc-1 31
  • 22 (a)
 OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes IKI3 30 31 33
  • 46.4 (n)
 OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_AER047C 30
  • 44.61 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0E05237g 30
  • 43.05 (n)
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons ABO1 30
  • 43.43 (n)
Rice
(Oryza sativa)
 Liliopsida Os07g0563700 30
  • 44.25 (n)
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes iki3 30
  • 44.98 (n)
Bread mold
(Neurospora crassa)
 Ascomycetes NCU01486 30
  • 44.15 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 37 (a)
 OneToOne
Species where no ortholog for ELP1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ELP1 Gene

ENSEMBL:
Gene Tree for ELP1 (if available)
TreeFam:
Gene Tree for ELP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ELP1: view image

Paralogs for ELP1 Gene

No data available for Paralogs for ELP1 Gene

Variants for ELP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ELP1 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
638912 Uncertain Significance: Familial dysautonomia 108,889,360(-) G/A MISSENSE_VARIANT
638948 Pathogenic: not provided 108,906,460(-) G/A NONSENSE
639038 Uncertain Significance: Familial dysautonomia 108,906,333(-) A/G MISSENSE_VARIANT
639831 Uncertain Significance: Familial dysautonomia 108,898,544(-) A/G MISSENSE_VARIANT
640148 Pathogenic: not provided 108,918,872(-) CTCGGT/C FRAMESHIFT_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for ELP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for ELP1 Gene

Variant ID Type Subtype PubMed ID
dgv199e180 CNV deletion 20482838
esv1329530 CNV deletion 17803354
esv2738904 CNV deletion 23290073
esv2738905 CNV deletion 23290073
esv2738907 CNV deletion 23290073
esv2738908 CNV deletion 23290073
esv2738909 CNV deletion 23290073
nsv1112485 CNV deletion 24896259
nsv416100 CNV deletion 16902084
nsv6659 CNV insertion 18451855

Variation tolerance for ELP1 Gene

Residual Variation Intolerance Score: 74.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 20.53; 99.12% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ELP1 Gene

Human Gene Mutation Database (HGMD)
ELP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ELP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ELP1 Gene

Disorders for ELP1 Gene

MalaCards: The human disease database

(17) MalaCards diseases for ELP1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ELP1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ELP1_HUMAN
  • Neuropathy, hereditary sensory and autonomic, 3 (HSAN3) [MIM:223900]: A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN3 patients manifest a variety of symptoms such as alacrima, decreased taste, decreased sensitivity to pain and temperature, vasomotor instability, hypoactive or absent deep tendon reflexes, vomiting crises, and gastrointestinal dysfunction. {ECO:0000269 PubMed:11179008, ECO:0000269 PubMed:11179021}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ELP1

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ELP1: view

No data available for Genatlas for ELP1 Gene

Publications for ELP1 Gene

  1. Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. (PMID: 11179008) Slaugenhaupt SA … Gusella JF (American journal of human genetics 2001) 2 3 4 23
  2. Purification and characterization of the human elongator complex. (PMID: 11714725) Hawkes NA … Svejstrup JQ (The Journal of biological chemistry 2002) 3 4 23
  3. Familial dysautonomia is caused by mutations of the IKAP gene. (PMID: 11179021) Anderson SL … Rubin BY (American journal of human genetics 2001) 3 4 23
  4. IKAP is a scaffold protein of the IkappaB kinase complex. (PMID: 9751059) Cohen L … Baeuerle PA (Nature 1998) 2 3 4
  5. DERP6 (ELP5) and C3ORF75 (ELP6) regulate tumorigenicity and migration of melanoma cells as subunits of Elongator. (PMID: 22854966) Close P … Chariot A (The Journal of biological chemistry 2012) 3 4

ExternalLinks

View latest publications for ELP1 gene in Mastermind

Products for ELP1 Gene

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