NucEnvDB

NucEnvDB

A database of Nuclear Envelope Proteins and their Interactions

Solute carrier family 2, facilitated glucose transporter member 10 - Homo sapiens - NucEnvDB

Solute carrier family 2, facilitated glucose transporter member 10 (Homo sapiens)

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Subcellular Location Biology & Function Disease Associations Cross-References

General Information

Protein Information
Protein Name	Solute carrier family 2, facilitated glucose transporter member 10
Accession Code	O95528
Gene	SLC2A10
Organism	Homo sapiens \| Human (Taxonomy: 9606)
Part of Reference Proteome?	Yes
Sequence (Length: 541)
MGHSPPVLPLCASVSLLGGLTFGYELAVISGALLPLQLDFGLSCLEQEFLVGSLLLGALLASLVGGFLIDCYGRKQAILGSNLVLLAGSLTLGLAGSLAWLVLGRAVVGFAISLSSMACCIYVSELVGPR QRGVLVSLYEAGITVGILLSYALNYALAGTPWGWRHMFGWATAPAVLQSLSLLFLPAGTDETATHKDLIPLQGGEAPKLGPGRPRYSFLDLFRARDNMRGRTTVGLGLVLFQQLTGQPNVLCYASTIFSS VGFHGGSSAVLASVGLGAVKVAATLTAMGLVDRAGRRALLLAGCALMALSVSGIGLVSFAVPMDSGPSCLAVPNATGQTGLPGDSGLLQDSSLPPIPRTNEDQREPILSTAKKTKPHPRSGDPSAPPRLA LSSALPGPPLPARGHALLRWTALLCLMVFVSAFSFGFGPVTWLVLSEIYPVEIRGRAFAFCNSFNWAANLFISLSFLDLIGTIGLSWTFLLYGLTAVLGLGFIYLFVPETKGQSLAEIDQQFQKRRFTLS FGHRQNSTGIPYSRIEISAAS

Subcellular Location

Description
Endomembrane system {Experimental EvidencePubMed:16550171}; Multi-pass membrane protein {Sequence Analysis}. Cytoplasm, perinuclear region {Experimental EvidencePubMed:16550171}.
Position in the Nuclear Envelope
Location	Location ID	Description
Perinuclear Region	SL-0198	The perinuclear region is the cytoplasmic region just around the nucleus.
Membrane Topology
Topology	Source	Annotation Type
Transmembrane	UniProt	Sequence Analysis {ECO:0000255}
Assigned Ontology terms

Cellular Component	Cytosol (GO:0005829) Endomembrane System (GO:0012505) Membrane (GO:0016020) Perinuclear Region Of Cytoplasm (GO:0048471) Plasma Membrane (GO:0005886)

Biology & Function

Description
Facilitative glucose transporter required for the development of the cardiovascular system. {Experimental EvidencePubMed:11592815, Experimental EvidencePubMed:16550171}.
Assigned Ontology terms

Biological Process	Artery Development (GO:0060840) Cell Redox Homeostasis (GO:0045454) Circulatory System Development (GO:0072359) Dehydroascorbic Acid Transport (GO:0070837) Embryonic Skeletal Joint Development (GO:0072498) Galactose Transmembrane Transport (GO:0015757) Glucose Import Across Plasma Membrane (GO:0098708) Glucose Transmembrane Transport (GO:1904659) Hexose Transmembrane Transport (GO:0008645) Negative Regulation Of Connective Tissue Growth Factor Production (GO:0032683) Negative Regulation Of Gene Expression (GO:0010629) Negative Regulation Of Integrin-Mediated Signaling Pathway (GO:2001045) Negative Regulation Of Proteoglycan Biosynthetic Process (GO:1902729) Negative Regulation Of SMAD Protein Signal Transduction (GO:0060392) Negative Regulation Of Transforming Growth Factor Beta Receptor Signaling Pathway (GO:0030512) Positive Regulation Of Gene Expression (GO:0010628) Positive Regulation Of Proteoglycan Biosynthetic Process (GO:1902730) Positive Regulation Of Transforming Growth Factor Beta Receptor Signaling Pathway (GO:0030511) Regulation Of Extracellular Matrix Organization (GO:1903053) Skin Development (GO:0043588) Transmembrane Transport (GO:0055085) Transport Across Blood-Brain Barrier (GO:0150104)
Molecular Function	Carbohydrate:Proton Symporter Activity (GO:0005351) D-Glucose Transmembrane Transporter Activity (GO:0055056) Dehydroascorbic Acid Transmembrane Transporter Activity (GO:0033300) Glucose Transmembrane Transporter Activity (GO:0005355) Symporter Activity (GO:0015293)

Disease associations

Description
Arterial tortuosity syndrome (ATORS) [MIM:208050]: An autosomal recessive disorder characterized by tortuosity and elongation of major arteries, often resulting in death at young age. Other typical features include aneurysms of large arteries and stenosis of the pulmonary artery, in association with facial features and several connective tissue manifestations such as soft skin and joint laxity. Histopathological findings include fragmentation of elastic fibers in the tunica media of large arteries. {Experimental EvidencePubMed:16550171, Experimental EvidencePubMed:17935213}. Note=The disease is caused by variants affecting the gene represented in this entry.
Database Associations
OMIM	208050 606145
DisGeNET	81031

Cross-References

Database	Links
UNIPROT	O95528 A8K4J6 Q3MIX5 Q9H4I6
Pfam	PF00083
PROSITE	PS50850 PS00216
OMIM	208050 606145
DisGeNET	81031

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