SLC2A10
entrez
81031
canonical
uniprot
O95528
canonical
ensembl
ENSG00000197496
resolver
ensp
ENSP00000352216
resolver
ensp
ENSP00000606562
resolver
ensp
ENSP00000667380
resolver
enst
ENST00000359271
resolver
genesymbol
SLC2A10
resolver
genesymbol_syn
GLUT10
resolver
hgnc
HGNC:13444
resolver
uniprot
A8K4J6
resolver
uniprot
Q3MIX5
resolver
uniprot
Q9H4I6
resolver
uniprot_entry
GTR10_HUMAN
resolver
uniprot_sec
A8K4J6
resolver
uniprot_sec
Q3MIX5
resolver
uniprot_sec
Q9H4I6
resolver
amino_acid_sequence
MGHSPPVLPLCASVSLLGGLTFGYELAVISGALLPLQLDFGLSCLEQEFLVGSLLLGALLASLVGGFLIDCYGRKQAILGSNLVLLAGSLTLGLAGSLAWLVLGRAVVGFAISLSSMACCIYVSELVGPRQRGVLVSLYEAGITVGILLSYALNYALAGTPWGWRHMFGWATAPAVLQSLSLLFLPAGTDETATHKDLIPLQGGEAPKLGPGRPRYSFLDLFRARDNMRGRTTVGLGLVLFQQLTGQPNVLCYASTIFSSVGFHGGSSAVLASVGLGAVKVAATLTAMGLVDRAGRRALLLAGCALMALSVSGIGLVSFAVPMDSGPSCLAVPNATGQTGLPGDSGLLQDSSLPPIPRTNEDQREPILSTAKKTKPHPRSGDPSAPPRLALSSALPGPPLPARGHALLRWTALLCLMVFVSAFSFGFGPVTWLVLSEIYPVEIRGRAFAFCNSFNWAANLFISLSFLDLIGTIGLSWTFLLYGLTAVLGLGFIYLFVPETKGQSLAEIDQQFQKRRFTLSFGHRQNSTGIPYSRIEISAAS
uniprot
proteins
disease_involvement
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.
uniprot
proteins
function
FUNCTION: Facilitative glucose transporter required for the development of the cardiovascular system. {ECO:0000269|PubMed:11592815, ECO:0000269|PubMed:16550171}.
uniprot
proteins
mass_dalton
56911
uniprot
proteins
protein_family
Glucose transporter subfamily
uniprot
proteins
protein_family
Major facilitator superfamily
uniprot
proteins
protein_family
Sugar transporter (TC 2.A.1.1) family
uniprot
proteins
pubmed
11247674
uniprot
proteins
pubmed
11592815
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
12941788
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16550171
uniprot
proteins
pubmed
17935213
uniprot
proteins
sequence_length
541
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endomembrane system {ECO:0000269|PubMed:16550171}; Multi-pass membrane protein {ECO:0000255}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:16550171}.
uniprot
proteins
transmembrane_region
TRANSMEM 16..36; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 49..69; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 78..98; /note="Helical; Name=3"; /evidence="ECO:0000255"; TRANSMEM 107..127; /note="Helical; Name=4"; /evidence="ECO:0000255"; TRANSMEM 135..155; /note="Helical; Name=5"; /evidence="ECO:0000255"; TRANSMEM 167..187; /note="Helical; Name=6"; /evidence="ECO:0000255"; TRANSMEM 234..254; /note="Helical; Name=7"; /evidence="ECO:0000255"; TRANSMEM 270..290; /note="Helical; Name=8"; /evidence="ECO:0000255"; TRANSMEM 299..319; /note="Helical; Name=9"; /evidence="ECO:0000255"; TRANSMEM 415..435; /note="Helical; Name=10"; /evidence="ECO:0000255"; TRANSMEM 446..466; /note="Helical; Name=11"; /evidence="ECO:0000255"; TRANSMEM 477..497; /note="Helical; Name=12"; /evidence="ECO:0000255
uniprot
proteins