Entity Details

Primary name SC6A9_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP48067
EntryNameSC6A9_HUMAN
FullNameSodium- and chloride-dependent glycine transporter 1
TaxID9606
Evidenceevidence at protein level
Length706
SequenceStatuscomplete
DateCreated1996-02-01
DateModified2021-06-02

Ontological Relatives

GenesSLC6A9

GO terms

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GOName
GO:0005768 endosome
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006836 neurotransmitter transport
GO:0009925 basal plasma membrane
GO:0014069 postsynaptic density
GO:0015187 glycine transmembrane transporter activity
GO:0015375 glycine:sodium symporter activity
GO:0015816 glycine transport
GO:0016020 membrane
GO:0016323 basolateral plasma membrane
GO:0016324 apical plasma membrane
GO:0016328 lateral plasma membrane
GO:0030285 integral component of synaptic vesicle membrane
GO:0031045 dense core granule
GO:0035725 sodium ion transmembrane transport
GO:0046985 positive regulation of hemoglobin biosynthetic process
GO:0070455 positive regulation of heme biosynthetic process
GO:0098686 hippocampal mossy fiber to CA3 synapse
GO:0098688 parallel fiber to Purkinje cell synapse
GO:0099055 integral component of postsynaptic membrane
GO:0099056 integral component of presynaptic membrane
GO:0150104 transport across blood-brain barrier
GO:1903804 glycine import across plasma membrane
GO:1904256 positive regulation of iron ion transmembrane transporter activity
GO:1904440 positive regulation of iron ion import across plasma membrane
GO:1904782 negative regulation of NMDA glutamate receptor activity

Subcellular Location

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Subcellular Location
Membrane

Domains

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DomainNameCategoryType
IPR000175 Sodium:neurotransmitter symporterFamilyFamily
IPR003028 Sodium:neurotransmitter symporter, glycine, type 1FamilyFamily
IPR037272 Sodium:neurotransmitter symporter superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
617301 OMIMGlycine encephalopathy with normal serum glycine (GCENSG)An autosomal recessive, severe metabolic disorder characterized by arthrogryposis multiplex congenita, joint hyperlaxity, lack of neonatal respiratory effort, axial hypotonia, hypertonia with pronounced clonus, and delayed psychomotor development. Some patients may have dysmorphic facial features and/or brain imaging abnormalities. Laboratory studies show increased CSF glycine and normal or only mildly increased serum glycine. Most patients die in infancy. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00145 GlycineDrugbanksmall molecule

Interactions

3 interactions