XB-FEAT-5813350: Difference between revisions
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= | =elp1= | ||
This is the community wiki page for the gene '' | This is the community wiki page for the gene ''elp1'' please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase | ||
=nomenclature changes= | |||
05/08/2017 | |||
Human symbol has changed for genepage ID: 5813350 From ikbkap to elp1 | |||
Human symbol has changed for Entrez Gene: 8518. From IKBKAP to ELP1 | |||
Human name has changed for Entrez Gene: 8518. From inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein to elongator complex protein 1 | |||
10.15.2020 | |||
Human name has changed for Entrez Gene: 8518. From elongator complex protein 1 to elongator acetyltransferase complex subunit 1 ( synonym is unchanged = elp1) | |||
=summary= | |||
from ncbi: | |||
in humans: 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] | |||
Latest revision as of 11:01, 4 November 2020
elp1
This is the community wiki page for the gene elp1 please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase
nomenclature changes
05/08/2017 Human symbol has changed for genepage ID: 5813350 From ikbkap to elp1
Human symbol has changed for Entrez Gene: 8518. From IKBKAP to ELP1
Human name has changed for Entrez Gene: 8518. From inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein to elongator complex protein 1
10.15.2020
Human name has changed for Entrez Gene: 8518. From elongator complex protein 1 to elongator acetyltransferase complex subunit 1 ( synonym is unchanged = elp1)
summary
from ncbi:
in humans: 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]