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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes Plasma proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
9
Cytoband
q31.3
Chromosome location (bp)
108866898 - 108934328
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Component of the elongator complex which is required for multiple tRNA modifications, including mcm5U (5-methoxycarbonylmethyl uridine), mcm5s2U (5-methoxycarbonylmethyl-2-thiouridine), and ncm5U (5-carbamoylmethyl uridine) 1. The elongator complex catalyzes the formation of carboxymethyluridine in the wobble base at position 34 in tRNAs 2. Regulates the migration and branching of projection neurons in the developing cerebral cortex, through a process depending on alpha-tubulin acetylation (By similarity). ELP1 binds to tRNA, mediating interaction of the elongator complex with tRNA (By similarity). May act as a scaffold protein that assembles active IKK-MAP3K14 complexes (IKKA, IKKB and MAP3K14/NIK) 3....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
tRNA processing
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
O95163 [Direct mapping] Elongator complex protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Cancers Cancers of eye, brain, and central nervous system Nervous system diseases Other nervous and sensory system diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
F5H2T0 [Direct mapping] IkappaB kinase complex-associated protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cancers Cancers of eye, brain, and central nervous system Nervous system diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
A0A6Q8PG86 [Direct mapping] Elongator complex protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cancers Cancers of eye, brain, and central nervous system Nervous system diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
A0A6Q8PGW3 [Direct mapping] Elongator complex protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cancers Cancers of eye, brain, and central nervous system Nervous system diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
A0A6Q8PGW3 [Direct mapping] Elongator complex protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cancers Cancers of eye, brain, and central nervous system Nervous system diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
A0A6Q8PHF4 [Direct mapping] Elongator complex protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cancers Cancers of eye, brain, and central nervous system Nervous system diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
O95163 [Direct mapping] Elongator complex protein 1
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Cancers Cancers of eye, brain, and central nervous system Nervous system diseases Other nervous and sensory system diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
A0A6Q8PHC9 [Direct mapping] Elongator complex protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cancers Cancers of eye, brain, and central nervous system Nervous system diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
A0A6Q8PFH9 [Direct mapping] Elongator complex protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cancers Cancers of eye, brain, and central nervous system Nervous system diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
A0A6Q8PF66 [Direct mapping] Elongator complex protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cancers Cancers of eye, brain, and central nervous system Nervous system diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
