Reactome: A Curated Pathway Database
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Query author contributions in Reactome

Reactome depends on collaboration between our curation team and outside experts to assemble and peer-review its pathway modules. The integration of ORCID within Reactome enables us to meet a key challenge with authoring, curating and reviewing biological information by incentivizing and crediting the external experts that contribute their expertise and time to the Reactome curation process. More information is available at ORCID and Reactome.

If you have an ORCID ID that is not listed on this page, please forward this information to us and we will update your Reactome pathway records.

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Details on Person ASS1 S180I [cytosol]

Class:IdEntityWithAccessionedSequence:9959106
_displayNameASS1 S180I [cytosol]
_timestamp2025-06-26 18:13:48
compartment[Compartment:70101] cytosol
created[InstanceEdit:9959152] Rothfels, Karen, 2025-06-26
crossReference[DatabaseIdentifier:9959148] ClinGen:CA375227223
disease[Disease:9956453] citrullinemia
endCoordinate412
hasModifiedResidue[ReplacedResidue:9959089] L-serine 180 replaced with L-isoleucine
literatureReference[LiteratureReference:9958747] Improved standards for prenatal diagnosis of citrullinemia
[LiteratureReference:9958760] Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation
nameASS1 S180I
argininosuccinate synthase
argininosuccinic acid synthetase
citrulline-aspartate ligase
Citrulline--aspartate ligase
referenceEntity[ReferenceGeneProduct:50409] UniProt:P00966 ASS1 [Homo sapiens]
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:9959189] R-HSA-9959106.1
startCoordinate1
(hasMember)[CandidateSet:9959191] ASS1 variants with altered thermal stability and compromised arginosuccinate synthase activity [cytosol] [Homo sapiens]
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No pathways have been reviewed or authored by ASS1 S180I [cytosol] (9959106)