Entity Details

Primary name S17A5_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9NRA2
EntryNameS17A5_HUMAN
FullNameSialin
TaxID9606
Evidenceevidence at protein level
Length495
SequenceStatuscomplete
DateCreated2004-06-07
DateModified2021-06-02

Ontological Relatives

GenesSLC17A5

GO terms

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GOName
GO:0005351 carbohydrate:proton symporter activity
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006811 ion transport
GO:0006820 anion transport
GO:0006865 amino acid transport
GO:0009617 response to bacterium
GO:0015136 sialic acid transmembrane transporter activity
GO:0015739 sialic acid transport
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0022857 transmembrane transporter activity
GO:0030672 synaptic vesicle membrane

Subcellular Location

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Subcellular Location
Cell membrane
Cytoplasmic vesicle
Lysosome membrane

Domains

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DomainNameCategoryType
IPR011701 Major facilitator superfamilyFamilyFamily
IPR020846 Major facilitator superfamily domainDomainDomain
IPR036259 MFS transporter superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
269920 OMIMInfantile sialic acid storage disorder (ISSD)Severe form of sialic acid storage disease. Affected newborns exhibit visceromegaly, coarse features and failure to thrive immediately after birth. These patients have a shortened life span, usually less than 2 years. The disease is caused by variants affecting the gene represented in this entry.
604369 OMIMSalla disease (SD)Sialic acid storage disease (SASD). SASDs are autosomal recessive neurodegenerative disorders characterized by hypotonia, cerebellar ataxia and mental retardation. They are caused by a defect in the metabolism of sialic acid which results in increased urinary excretion of unconjugated sialic acid, specifically N-acetylneuraminic acid. Enlarged lysosomes are seen on electron microscopic studies. Clinical symptoms of SD present usually at age less than 1 year and progression is slow. The disease is caused by variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
S17A5_HUMANA4_HUMANBioGRID21832049 details