Reactome | SLC39A4 Q323Qfs*25 [plasma membrane]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:876] plasma membrane
created	[InstanceEdit:5654127] Jassal, Bijay, 2014-12-03
crossReference	[DatabaseIdentifier:12021010] Mondo:0008713
dbId	5654109
disease	[Disease:5654136] acrodermatitis enteropathica
displayName	SLC39A4 Q323Qfs*25 [plasma membrane]
endCoordinate	346
hasModifiedResidue	[FragmentReplacedModification:5654115] Replacement of residues 323 to 647 by QRGICTAPWPRCSSASARSLASCC
inDisease	true
literatureReference	[LiteratureReference:442409] Identification of SLC39A4, a gene involved in acrodermatitis enteropathica
maxDepth	1
memberOf	[DefinedSet:R-HSA-5654134] SLC39A4 mutants [plasma membrane] - Homo sapiens
modified	[InstanceEdit:9830199] Orlic-Milacic, Marija, 2023-02-28
name	SLC39A4 Q323Qfs*25 SLC39A4 c.968_971delAGTC hZIP4 Zinc transporter ZIP4 S39A4_HUMAN
referenceEntity	[ReferenceGeneProduct:uniprot:Q6P5W5] UniProt:Q6P5W5 SLC39A4
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-5654109
startCoordinate	23
updateTrackers	[UpdateTracker:9904824] Update Tracker - [EntityWithAccessionedSequence:5654109] SLC39A4 Q323Qfs*25 [plasma membrane] - v84:[addLiteratureReference, modifyEndCoordinate, modifyName]

(updatedInstance)	[UpdateTracker:9904824] Update Tracker - [EntityWithAccessionedSequence:5654109] SLC39A4 Q323Qfs*25 [plasma membrane] - v84:[addLiteratureReference, modifyEndCoordinate, modifyName]
(hasMember)	[DefinedSet:R-HSA-5654134] SLC39A4 mutants [plasma membrane]

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