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Aliases for ELP1 Gene

Aliases for ELP1 Gene

  • Elongator Complex Protein 1 2 3 5
  • 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
  • IKAP 3 4
  • Dysautonomia (Riley-Day Syndrome, Hereditary Sensory Autonomic Neuropathy Type III) 2
  • P150 4
  • IKI3 3
  • TOT1 3
  • 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 Dysautonomia, Familial and Dysautonomia. Among its related pathways are Chromatin organization and Transcription_NF-kB signaling pathway.

UniProtKB/Swiss-Prot for ELP1 Gene

  • May act as a scaffold protein that may assemble active IKK-MAP3K14 complexes (IKKA, IKKB and MAP3K14/NIK).

  • Acts as subunit of the RNA polymerase II elongator complex, which is a histone acetyltransferase component of the RNA polymerase II (Pol II) holoenzyme and is involved in transcriptional elongation. Elongator may play a role in chromatin remodeling and is involved in acetylation of histones H3 and probably H4. Involved in cell migration. 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).

Additional gene information for ELP1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ELP1 Gene

Genomics for ELP1 Gene

Regulatory Elements for ELP1 Gene

Enhancers for ELP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09H109096 1.5 Ensembl ENCODE dbSUPER 45.5 -165.6 -165570 6 HDGF PKNOX1 FOXA2 ARNT ARID4B FEZF1 YY1 FOS ATF7 RUNX3 ELP1 CTNNAL1 FRRS1L TMEM245 FAM206A MIR32 ENSG00000199331 GC09M109081
GH09H109113 1.9 FANTOM5 Ensembl ENCODE dbSUPER 25.4 -183.2 -183178 9 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF766 ZNF207 FRRS1L ELP1 CTNNAL1 TMEM245 MIR32 ENSG00000199331 FAM206A GC09M109081
GH09H109106 1.8 FANTOM5 Ensembl ENCODE dbSUPER 25 -175.3 -175286 5 PKNOX1 ATF1 ARNT FEZF1 TCF12 GATA2 FOS ATF7 RUNX3 NCOA1 CTNNAL1 FRRS1L ELP1 MIR32 ENSG00000199331 TMEM245 GC09M109081
GH09H109035 1.2 Ensembl ENCODE 26.9 -102.1 -102061 2 TBP FOXA2 SIN3A THRB ZSCAN9 RAD21 RARA RFX5 YY1 TCF12 ELP1 CTNNAL1 TMEM245 GC09M109043 ENSG00000199331 PIR41041
GH09H108931 1.1 ENCODE 29.3 +0.7 695 3 HDGF PKNOX1 ARID4B SIN3A DMAP1 YY1 ZNF143 FOS SP3 ZHX2 ELP1 FRRS1L CTNNAL1 FAM206A ACTL7A
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ELP1 on UCSC Golden Path with GeneCards custom track

Promoters for ELP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000239493 128 2001 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 YY1 ZNF143 FOS SP3

Genomic Location for ELP1 Gene

Chromosome:
9
Start:
108,867,517 bp from pter
End:
108,934,328 bp from pter
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 StructureGene Density

RefSeq DNA sequence for ELP1 Gene

Proteins for ELP1 Gene

  • 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:
    • Interacts preferentially with MAP3K14/NIK followed by IKK-alpha and IKK-beta. Component of the RNA polymerase II elongator complex (Elongator), which consists of IKBKAP/ELP1, STIP1/ELP2, ELP3, ELP4, ELP5 and ELP6. Elongator associates with the C-terminal domain (CTD) of Pol II largest subunit. Interacts with ELP3.
    SequenceCaution:
    • Sequence=CAB43219.1; Type=Frameshift; Positions=1286; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ELP1 Gene

neXtProt entry for ELP1 Gene

Post-translational modifications for ELP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ELP1 Gene

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

Suggested Antigen Peptide Sequences for ELP1 Gene

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

Molecular function for ELP1 Gene

UniProtKB/Swiss-Prot Function:
May act as a scaffold protein that may assemble active IKK-MAP3K14 complexes (IKKA, IKKB and MAP3K14/NIK).
UniProtKB/Swiss-Prot Function:
Acts as subunit of the RNA polymerase II elongator complex, which is a histone acetyltransferase component of the RNA polymerase II (Pol II) holoenzyme and is involved in transcriptional elongation. Elongator may play a role in chromatin remodeling and is involved in acetylation of histones H3 and probably H4. Involved in cell migration. 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).

Phenotypes From GWAS Catalog for ELP1 Gene

Gene Ontology (GO) - Molecular Function for ELP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000993 contributes_to RNA polymerase II core binding IDA 11714725
GO:0004871 signal transducer activity TAS 9751059
GO:0005515 protein binding IPI 11714725
GO:0008607 phosphorylase kinase regulator activity IDA,TAS 11818576
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:

Animal Model Products

CRISPR Products

miRNA for ELP1 Gene

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ELP1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
extracellular 2
cytoskeleton 2
mitochondrion 2
plasma membrane 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:0000123 histone acetyltransferase complex IDA 11714725
GO:0005634 nucleus IEA --
GO:0005730 nucleolus IDA 11714725
GO:0005737 cytoplasm IDA,IEA 11714725
GO:0005829 cytosol IDA --
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 GeneTex pathway for ELP1 Gene
1 Cell Signaling Technology pathway for ELP1 Gene
1 GeneGo (Thomson Reuters) pathway for ELP1 Gene

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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter TAS 11714725
GO:0006368 transcription elongation from RNA polymerase II promoter TAS 11714725
genes like me logo Genes that share ontologies with ELP1: view

Drugs & Compounds for ELP1 Gene

(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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ELP1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for ELP1 Gene

GeneLoc Exon Structure for
ELP1
ECgene alternative splicing isoforms for
ELP1

Expression for ELP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ELP1 Gene:

ELP1

Evidence on tissue expression from TISSUES for ELP1 Gene

  • Nervous system(4.9)
  • Liver(4.4)
  • Heart(2.5)
  • Lung(2.5)
  • Muscle(2.4)
  • Stomach(2.4)
  • Blood(2.1)
  • Skin(2.1)
  • Adrenal gland(2)

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
Organs:
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

Primer Products

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 33 34
  • 97.69 (n)
dog
(Canis familiaris)
Mammalia IKBKAP 33 34
  • 89.09 (n)
cow
(Bos Taurus)
Mammalia IKBKAP 33 34
  • 87.33 (n)
mouse
(Mus musculus)
Mammalia Ikbkap 33 16 34
  • 83.43 (n)
rat
(Rattus norvegicus)
Mammalia Ikbkap 33
  • 83.31 (n)
oppossum
(Monodelphis domestica)
Mammalia IKBKAP 34
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IKBKAP 34
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves IKBKAP 33 34
  • 68.42 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 68 (a)
OneToMany
-- 34
  • 64 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ikbkap 33
  • 65.35 (n)
zebrafish
(Danio rerio)
Actinopterygii ikbkap 33 34
  • 61.11 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003979 33
  • 45.77 (n)
fruit fly
(Drosophila melanogaster)
Insecta Elp1 33 34
  • 44.96 (n)
worm
(Caenorhabditis elegans)
Secernentea elpc-1 34
  • 22 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IKI3 33 34 36
  • 46.4 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER047C 33
  • 44.61 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E05237g 33
  • 43.05 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ABO1 33
  • 43.43 (n)
rice
(Oryza sativa)
Liliopsida Os07g0563700 33
  • 44.25 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes iki3 33
  • 44.98 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01486 33
  • 44.15 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 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)

Paralogs for ELP1 Gene

No data available for Paralogs for ELP1 Gene

Variants for ELP1 Gene

Sequence variations from dbSNP and Humsavar for ELP1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs137853022 other, Neuropathy, hereditary sensory and autonomic, 3 (HSAN3) [MIM:223900] 108,900,303(-) TTCAC(A/C/G)GATTG nc-transcript-variant, reference, missense
rs111033171 Pathogenic 108,899,816(-) GTAAG(C/T)GCCAT intron-variant
rs28939712 Pathogenic 108,894,062(-) GGATC(C/T)CAAAG nc-transcript-variant, reference, missense
rs1057516865 Likely pathogenic 108,899,868(-) TTGTT(-/C)ATCAT nc-transcript-variant, reference, frameshift-variant
rs1057517169 Likely pathogenic 108,899,821(-) GACAA(A/G)TAAGT splice-donor-variant

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)

Relevant External Links for ELP1 Gene

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

(12) MalaCards diseases for ELP1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
dysautonomia, familial
  • riley-day syndrome
dysautonomia
autonomic neuropathy
baroreflex failure
neuropathy
  • peripheral neuropathy
- 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.

Relevant External Links for ELP1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ELP1
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 22 60
  2. Purification and characterization of the human elongator complex. (PMID: 11714725) Hawkes NA … Svejstrup JQ (The Journal of biological chemistry 2002) 3 4 22 60
  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 22 60
  4. IKAP is a scaffold protein of the IkappaB kinase complex. (PMID: 9751059) Cohen L … Baeuerle PA (Nature 1998) 2 3 4 60
  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 60

Products for ELP1 Gene

Sources for ELP1 Gene

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