KEGG   Homo sapiens (human): 6513Help
Entry
6513              CDS       T01001                                 

Gene name
SLC2A1, CSE, DYT17, DYT18, DYT9, EIG12, GLUT, GLUT-1, GLUT1, GLUT1DS, HTLVR, PED, SDCHCN
Definition
(RefSeq) solute carrier family 2 member 1
  KO
K07299  MFS transporter, SP family, solute carrier family 2 (facilitated glucose transporter), member 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04066  HIF-1 signaling pathway
hsa04911  Insulin secretion
hsa04919  Thyroid hormone signaling pathway
hsa04920  Adipocytokine signaling pathway
hsa04922  Glucagon signaling pathway
hsa04931  Insulin resistance
hsa04976  Bile secretion
hsa05166  HTLV-I infection
hsa05200  Pathways in cancer
hsa05211  Renal cell carcinoma
hsa05230  Central carbon metabolism in cancer
Network
N00079  HIF-1 signaling pathway
N00080  Loss of VHL to HIF-1 signaling pathway
N00081  Mutation-inactivated VHL to HIF-1 signaling pathway
Disease
H00232  Hereditary stomatocytosis (HSt)
H00831  Primary dystonia
H00836  GLUT1 deficiency syndrome (GLUT1DS)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Signal transduction
   04066 HIF-1 signaling pathway
    6513 (SLC2A1)
 Organismal Systems
  Endocrine system
   04911 Insulin secretion
    6513 (SLC2A1)
   04922 Glucagon signaling pathway
    6513 (SLC2A1)
   04920 Adipocytokine signaling pathway
    6513 (SLC2A1)
   04919 Thyroid hormone signaling pathway
    6513 (SLC2A1)
  Digestive system
   04976 Bile secretion
    6513 (SLC2A1)
 Human Diseases
  Cancers
   05200 Pathways in cancer
    6513 (SLC2A1)
   05230 Central carbon metabolism in cancer
    6513 (SLC2A1)
   05211 Renal cell carcinoma
    6513 (SLC2A1)
  Endocrine and metabolic diseases
   04931 Insulin resistance
    6513 (SLC2A1)
  Infectious diseases
   05166 HTLV-I infection
    6513 (SLC2A1)
Transporters [BR:hsa02000]
 Solute Carrier Family (SLC)
  SLC2: Facilitative GLUT transporter
   6513 (SLC2A1)
 Major Facilitator Superfamily (MFS)
  Sugar transporters
   Sugar porter (SP) family [TC:2.A.1.1]
    6513 (SLC2A1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Sugar_tr MFS_1 DUF2127 DUF523
Motif
Other DBs
NCBI-GeneID: 6513
NCBI-ProteinID: NP_006507
OMIM: 138140
HGNC: 11005
Ensembl: ENSG00000117394
Vega: OTTHUMG00000007657
Pharos: P11166(Tchem)
UniProt: P11166 Q59GX2
Structure
PDB: 

Position
1p34.2
AA seq 492 aa AA seqDB search
MEPSSKKLTGRLMLAVGGAVLGSLQFGYNTGVINAPQKVIEEFYNQTWVHRYGESILPTT
LTTLWSLSVAIFSVGGMIGSFSVGLFVNRFGRRNSMLMMNLLAFVSAVLMGFSKLGKSFE
MLILGRFIIGVYCGLTTGFVPMYVGEVSPTALRGALGTLHQLGIVVGILIAQVFGLDSIM
GNKDLWPLLLSIIFIPALLQCIVLPFCPESPRFLLINRNEENRAKSVLKKLRGTADVTHD
LQEMKEESRQMMREKKVTILELFRSPAYRQPILIAVVLQLSQQLSGINAVFYYSTSIFEK
AGVQQPVYATIGSGIVNTAFTVVSLFVVERAGRRTLHLIGLAGMAGCAILMTIALALLEQ
LPWMSYLSIVAIFGFVAFFEVGPGPIPWFIVAELFSQGPRPAAIAVAGFSNWTSNFIVGM
CFQYVEQLCGPYVFIIFTVLLVLFFIFTYFKVPETKGRTFDEIASGFRQGGASQSDKTPE
ELFHPLGADSQV
NT seq 1479 nt NT seq  +upstreamnt  +downstreamnt
atggagcccagcagcaagaagctgacgggtcgcctcatgctggccgtgggaggagcagtg
cttggctccctgcagtttggctacaacactggagtcatcaatgccccccagaaggtgatc
gaggagttctacaaccagacatgggtccaccgctatggggagagcatcctgcccaccacg
ctcaccacgctctggtccctctcagtggccatcttttctgttgggggcatgattggctcc
ttctctgtgggccttttcgttaaccgctttggccggcggaattcaatgctgatgatgaac
ctgctggccttcgtgtccgccgtgctcatgggcttctcgaaactgggcaagtcctttgag
atgctgatcctgggccgcttcatcatcggtgtgtactgcggcctgaccacaggcttcgtg
cccatgtatgtgggtgaagtgtcacccacagcccttcgtggggccctgggcaccctgcac
cagctgggcatcgtcgtcggcatcctcatcgcccaggtgttcggcctggactccatcatg
ggcaacaaggacctgtggcccctgctgctgagcatcatcttcatcccggccctgctgcag
tgcatcgtgctgcccttctgccccgagagtccccgcttcctgctcatcaaccgcaacgag
gagaaccgggccaagagtgtgctaaagaagctgcgcgggacagctgacgtgacccatgac
ctgcaggagatgaaggaagagagtcggcagatgatgcgggagaagaaggtcaccatcctg
gagctgttccgctcccccgcctaccgccagcccatcctcatcgctgtggtgctgcagctg
tcccagcagctgtctggcatcaacgctgtcttctattactccacgagcatcttcgagaag
gcgggggtgcagcagcctgtgtatgccaccattggctccggtatcgtcaacacggccttc
actgtcgtgtcgctgtttgtggtggagcgagcaggccggcggaccctgcacctcataggc
ctcgctggcatggcgggttgtgccatactcatgaccatcgcgctagcactgctggagcag
ctaccctggatgtcctatctgagcatcgtggccatctttggctttgtggccttctttgaa
gtgggtcctggccccatcccatggttcatcgtggctgaactcttcagccagggtccacgt
ccagctgccattgccgttgcaggcttctccaactggacctcaaatttcattgtgggcatg
tgcttccagtatgtggagcaactgtgtggtccctacgtcttcatcatcttcactgtgctc
ctggttctgttcttcatcttcacctacttcaaagttcctgagactaaaggccggaccttc
gatgagatcgcttccggcttccggcaggggggagccagccaaagtgacaagacacccgag
gagctgttccatcccctgggggctgattcccaagtgtga

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