Entity Details

Primary name S39AE_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ15043
EntryNameS39AE_HUMAN
FullNameMetal cation symporter ZIP14
TaxID9606
Evidenceevidence at protein level
Length492
SequenceStatuscomplete
DateCreated2007-12-04
DateModified2021-06-02

Ontological Relatives

GenesSLC39A14

GO terms

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GOName
GO:0002062 chondrocyte differentiation
GO:0005381 iron ion transmembrane transporter activity
GO:0005384 manganese ion transmembrane transporter activity
GO:0005385 zinc ion transmembrane transporter activity
GO:0005765 lysosomal membrane
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006094 gluconeogenesis
GO:0006882 cellular zinc ion homeostasis
GO:0008286 insulin receptor signaling pathway
GO:0010817 regulation of hormone levels
GO:0015086 cadmium ion transmembrane transporter activity
GO:0015093 ferrous iron transmembrane transporter activity
GO:0015296 anion:cation symporter activity
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
GO:0016324 apical plasma membrane
GO:0031901 early endosome membrane
GO:0031902 late endosome membrane
GO:0032869 cellular response to insulin stimulus
GO:0033212 iron import into cell
GO:0034755 iron ion transmembrane transport
GO:0045745 positive regulation of G protein-coupled receptor signaling pathway
GO:0051344 negative regulation of cyclic-nucleotide phosphodiesterase activity
GO:0055071 manganese ion homeostasis
GO:0070574 cadmium ion transmembrane transport
GO:0071333 cellular response to glucose stimulus
GO:0071421 manganese ion transmembrane transport
GO:0071577 zinc ion transmembrane transport
GO:0071578 zinc ion import across plasma membrane
GO:0098739 import across plasma membrane

Subcellular Location

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Subcellular Location
Apical cell membrane
Basolateral cell membrane
Cell membrane
Early endosome membrane
Late endosome membrane
Lysosome membrane

Domains

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DomainNameCategoryType
IPR003689 Zinc/iron permeaseFamilyFamily

Diseases

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Disease IDSourceNameDescription
144755 OMIMHyperostosis cranialis interna (HCIN)An autosomal dominant bone disorder characterized by endosteal hyperostosis and osteosclerosis of the calvaria and the skull base. The progressive bone overgrowth causes entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII, its first symptoms often presenting during the second decade of life. The disease is caused by variants affecting the gene represented in this entry. Conditional knockin mice overexpressing Arg-438 variant, which is the mouse equivalent of human variant Leu-441, in osteoblasts have a severe skeletal phenotype marked by a drastic increase in cortical thickness due to an enhanced endosteal bone formation, resembling the underlying pathology in HCI patients.
617013 OMIMHypermanganesemia with dystonia 2 (HMNDYT2)A metabolic autosomal recessive disorder characterized by increased blood manganese levels, neurodegeneration, and rapidly progressive parkinsonism and dystonia. Affected individuals present with loss of developmental milestones, progressive dystonia and bulbar dysfunction in infancy or early childhood. Towards the end of the first decade, they manifest severe generalized pharmacoresistant dystonia, spasticity, limb contractures and scoliosis, and loss of independent ambulation. Cognition may be impaired, but is better preserved than motor function. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB14533 Zinc chlorideDrugbanksmall molecule
DB14548 Zinc sulfate, unspecified formDrugbanksmall molecule

Interactions

3 interactions

InteractorPartnerSourcesPublicationsLink
S39AE_HUMANSEPT3_HUMANBioGRID, IntAct32296183 details
S39AE_HUMANLZTS2_HUMANBioGRID, IntAct32296183 details
S39AE_HUMANBKRB1_HUMANBioGRID, MINT28298427 details