ID  O95528;
PN  Solute carrier family 2, facilitated glucose transporter member 10;
GN  SLC2A10;
OS  9606;
SL  Nucleus Position: SL-0198;
SL  Comments: Endomembrane system {ECO:0000269|PubMed:16550171}; Multi-pass membrane protein {ECO:0000255}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:16550171}.
DR  UNIPROT: O95528;
DR  UNIPROT: A8K4J6;
DR  UNIPROT: Q3MIX5;
DR  UNIPROT: Q9H4I6;
DR  Pfam: PF00083;
DR  PROSITE: PS50850;
DR  PROSITE: PS00216;
DR  OMIM: 208050;
DR  OMIM: 606145;
DR  DisGeNET: 81031;
DE  Function: Facilitative glucose transporter required for the development of the cardiovascular system. {ECO:0000269|PubMed:11592815, ECO:0000269|PubMed:16550171}.
DE  Disease: 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. {ECO:0000269|PubMed:16550171, ECO:0000269|PubMed:17935213}. Note=The disease is caused by variants affecting the gene represented in this entry.
DE  Reference Proteome: Yes;
GO  GO:0005829;
GO  GO:0012505;
GO  GO:0016021;
GO  GO:0016020;
GO  GO:0048471;
GO  GO:0005886;
GO  GO:0005351;
GO  GO:0055056;
GO  GO:0033300;
GO  GO:0005355;
GO  GO:0015293;
GO  GO:0060840;
GO  GO:0045454;
GO  GO:0072359;
GO  GO:0070837;
GO  GO:0072498;
GO  GO:0015757;
GO  GO:0098708;
GO  GO:1904659;
GO  GO:0008645;
GO  GO:0032683;
GO  GO:0010629;
GO  GO:2001045;
GO  GO:1902729;
GO  GO:0060392;
GO  GO:0030512;
GO  GO:0010628;
GO  GO:1902730;
GO  GO:0030511;
GO  GO:1903053;
GO  GO:0043588;
GO  GO:0055085;
GO  GO:0150104;
TP  Membrane Topology: Transmembrane; Source: UniProt - Sequence Analysis {ECO:0000255};
SQ  MGHSPPVLPLCASVSLLGGLTFGYELAVISGALLPLQLDFGLSCLEQEFLVGSLLLGALLASLVGGFLIDCYGRKQAILG
SQ  SNLVLLAGSLTLGLAGSLAWLVLGRAVVGFAISLSSMACCIYVSELVGPRQRGVLVSLYEAGITVGILLSYALNYALAGT
SQ  PWGWRHMFGWATAPAVLQSLSLLFLPAGTDETATHKDLIPLQGGEAPKLGPGRPRYSFLDLFRARDNMRGRTTVGLGLVL
SQ  FQQLTGQPNVLCYASTIFSSVGFHGGSSAVLASVGLGAVKVAATLTAMGLVDRAGRRALLLAGCALMALSVSGIGLVSFA
SQ  VPMDSGPSCLAVPNATGQTGLPGDSGLLQDSSLPPIPRTNEDQREPILSTAKKTKPHPRSGDPSAPPRLALSSALPGPPL
SQ  PARGHALLRWTALLCLMVFVSAFSFGFGPVTWLVLSEIYPVEIRGRAFAFCNSFNWAANLFISLSFLDLIGTIGLSWTFL
SQ  LYGLTAVLGLGFIYLFVPETKGQSLAEIDQQFQKRRFTLSFGHRQNSTGIPYSRIEISAAS
//