O95528 (GTR10_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 109.
History...
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Solute carrier family 2, facilitated glucose transporter member 10 Alternative name(s): Glucose transporter type 10 Short name=GLUT-10 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 541 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Facilitative glucose transporter. |
| Subcellular location | Endomembrane system; Multi-pass membrane protein. Cytoplasm › perinuclear region Ref.9. |
| Tissue specificity | Widely expressed; highest levels in liver and pancreas. Ref.2 |
| Involvement in disease | Arterial tortuosity syndrome (ATS) [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. |
| Sequence similarities | Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily. [View classification] |
| Biophysicochemical properties | Kinetic parameters: KM=0.28 mM for 2-deoxy-D-glucose |
Ontologies
| Keywords | |
|---|---|
| Biological process | Sugar transport Transport |
| Cellular component | Cytoplasm Membrane |
| Coding sequence diversity | Polymorphism |
| Disease | Disease mutation |
| Domain | Transmembrane Transmembrane helix |
| PTM | Glycoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | glucose transport Non-traceable author statement Ref.1. Source: UniProtKB |
| Cellular_component | endomembrane system Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membraneNon-traceable author statement Ref.1. Source: UniProtKB perinuclear region of cytoplasmInferred from electronic annotation. Source: UniProtKB-SubCell plasma membraneTraceable author statement. Source: Reactome |
| Molecular_function | sugar:hydrogen symporter activity Non-traceable author statement Ref.1. Source: UniProtKB |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 541 | 541 | Solute carrier family 2, facilitated glucose transporter member 10 | PRO_0000050379 | |||||
Regions | |||||||||
| Topological domain | 1 – 15 | 15 | Cytoplasmic Potential | ||||||
| Transmembrane | 16 – 36 | 21 | Helical; Name=1; Potential | ||||||
| Topological domain | 37 – 48 | 12 | Extracellular Potential | ||||||
| Transmembrane | 49 – 69 | 21 | Helical; Name=2; Potential | ||||||
| Topological domain | 70 – 77 | 8 | Cytoplasmic Potential | ||||||
| Transmembrane | 78 – 98 | 21 | Helical; Name=3; Potential | ||||||
| Topological domain | 99 – 106 | 8 | Extracellular Potential | ||||||
| Transmembrane | 107 – 127 | 21 | Helical; Name=4; Potential | ||||||
| Topological domain | 128 – 134 | 7 | Cytoplasmic Potential | ||||||
| Transmembrane | 135 – 155 | 21 | Helical; Name=5; Potential | ||||||
| Topological domain | 156 – 166 | 11 | Extracellular Potential | ||||||
| Transmembrane | 167 – 187 | 21 | Helical; Name=6; Potential | ||||||
| Topological domain | 188 – 233 | 46 | Cytoplasmic Potential | ||||||
| Transmembrane | 234 – 254 | 21 | Helical; Name=7; Potential | ||||||
| Topological domain | 255 – 269 | 15 | Extracellular Potential | ||||||
| Transmembrane | 270 – 290 | 21 | Helical; Name=8; Potential | ||||||
| Topological domain | 291 – 298 | 8 | Cytoplasmic Potential | ||||||
| Transmembrane | 299 – 319 | 21 | Helical; Name=9; Potential | ||||||
| Topological domain | 320 – 414 | 95 | Extracellular Potential | ||||||
| Transmembrane | 415 – 435 | 21 | Helical; Name=10; Potential | ||||||
| Topological domain | 436 – 445 | 10 | Cytoplasmic Potential | ||||||
| Transmembrane | 446 – 466 | 21 | Helical; Name=11; Potential | ||||||
| Topological domain | 467 – 476 | 10 | Extracellular Potential | ||||||
| Transmembrane | 477 – 497 | 21 | Helical; Name=12; Potential | ||||||
| Topological domain | 498 – 541 | 44 | Cytoplasmic Potential | ||||||
Amino acid modifications | |||||||||
| Glycosylation | 334 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Natural variant | 81 | 1 | S → R in ATS. Ref.9 | VAR_029535 | |||||
| Natural variant | 106 | 1 | A → S. Corresponds to variant rs6094438 [ dbSNP | Ensembl ]. | VAR_029536 | |||||
| Natural variant | 132 | 1 | R → W in ATS. Ref.10 | VAR_042417 | |||||
| Natural variant | 142 | 1 | G → V in ATS. Ref.10 | VAR_042418 | |||||
| Natural variant | 206 | 1 | A → T Associated with lower insulin level. Ref.8 Corresponds to variant rs2235491 [ dbSNP | Ensembl ]. | VAR_029335 | |||||
| Natural variant | 225 | 1 | R → H. Corresponds to variant rs34295241 [ dbSNP | Ensembl ]. | VAR_042419 | |||||
| Natural variant | 231 | 1 | R → Q in ATS. Ref.10 | VAR_042420 | |||||
| Natural variant | 246 | 1 | G → E in ATS. Ref.10 | VAR_042421 | |||||
| Natural variant | 426 | 1 | G → W in ATS. Ref.10 | VAR_042422 | |||||
| Natural variant | 437 | 1 | E → K in ATS. Ref.10 | VAR_042423 | |||||
| Natural variant | 445 | 1 | G → E in ATS. | VAR_042424 | |||||
| Natural variant | 518 | 1 | T → A. Corresponds to variant rs6018008 [ dbSNP | Ensembl ]. | VAR_024652 | |||||
| Natural variant | 537 | 1 | I → V. Corresponds to variant rs7348121 [ dbSNP | Ensembl ]. | VAR_029537 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Molecular cloning of a novel member of the GLUT family of transporters, SLC2A10 (GLUT10), localized on chromosome 20q13.1: a candidate gene for NIDDM susceptibility." McVie-Wylie A.J., Lamson D.R., Chen Y.T. Genomics 72:113-117(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Liver. |
| [2] | "Sequence and functional analysis of GLUT10: a glucose transporter in the Type 2 diabetes-linked region of chromosome 20q12-13.1." Dawson P.A., Mychaleckyj J.C., Fossey S.C., Mihic S.J., Craddock A.L., Bowden D.W. Mol. Genet. Metab. 74:186-199(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, CHARACTERIZATION. |
| [3] | Stavrides G.S., Hashim Y., Huckle E.J., Deloukas P. Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA]. |
| [4] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. |
| [5] | "The DNA sequence and comparative analysis of human chromosome 20." Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E. Rogers J.Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [7] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Liver. |
| [8] | "Genetic variation of the GLUT10 glucose transporter (SLC2A10) and relationships to type 2 diabetes and intermediary traits." Andersen G., Rose C.S., Hamid Y.H., Drivsholm T., Borch-Johnsen K., Hansen T., Pedersen O. Diabetes 52:2445-2448(2003) [PubMed] [Europe PMC] [Abstract] Cited for: ASSOCIATION OF VARIANT THR-206 WITH LOWER SERUM INSULIN LEVEL. |
| [9] | "Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome." Coucke P.J., Willaert A., Wessels M.W., Callewaert B., Zoppi N., De Backer J., Fox J.E., Mancini G.M.S., Kambouris M., Gardella R., Facchetti F., Willems P.J., Forsyth R., Dietz H.C., Barlati S., Colombi M., Loeys B., De Paepe A. Nat. Genet. 38:452-457(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT ATS ARG-81, SUBCELLULAR LOCATION. |
| [10] | "Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families." Callewaert B.L., Willaert A., Kerstjens-Frederikse W.S., De Backer J., Devriendt K., Albrecht B., Ramos-Arroyo M.A., Doco-Fenzy M., Hennekam R.C.M., Pyeritz R.E., Krogmann O.N., Gillessen-kaesbach G., Wakeling E.L., Nik-zainal S., Francannet C., Mauran P., Booth C., Barrow M. De Paepe A.M.Hum. Mutat. 29:150-158(2008) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ATS TRP-132; VAL-142; GLN-231; GLU-246; TRP-426 AND LYS-437. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF321240 mRNA. Translation: AAK26294.1. AF248053 mRNA. Translation: AAK31911.1. AL137188 mRNA. Translation: CAB69822.2. AK290961 mRNA. Translation: BAF83650.1. AL031055 Genomic DNA. Translation: CAA19926.2. CH471077 Genomic DNA. Translation: EAW75724.1. BC101657 mRNA. Translation: AAI01658.1. BC113423 mRNA. Translation: AAI13424.1. |
| IPI | IPI00219424. |
| RefSeq | NP_110404.1. NM_030777.3. |
| UniGene | Hs.305971. |
3D structure databases | |
| ProteinModelPortal | O95528. |
| ModBase | Search... |
Protein family/group databases | |
| TCDB | 2.A.1.1.59. major facilitator superfamily (MFS). |
PTM databases | |
| PhosphoSite | O95528. |
Proteomic databases | |
| PaxDb | O95528. |
| PRIDE | O95528. |
Protocols and materials databases | |
| DNASU | 81031. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000359271; ENSP00000352216; ENSG00000197496. |
| GeneID | 81031. |
| KEGG | hsa:81031. |
| UCSC | uc002xsl.3. human. |
Organism-specific databases | |
| CTD | 81031. |
| GeneCards | GC20P045338. |
| HGNC | HGNC:13444. SLC2A10. |
| HPA | HPA041015. |
| MIM | 208050. phenotype. 606145. gene. |
| neXtProt | NX_O95528. |
| Orphanet | 3342. Arterial tortuosity syndrome. |
| PharmGKB | PA37769. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG0477. |
| HOGENOM | HOG000202868. |
| HOVERGEN | HBG051858. |
| InParanoid | O95528. |
| KO | K08147. |
| OMA | CYGRKQA. |
| OrthoDB | EOG4JQ3XH. |
| PhylomeDB | O95528. |
Enzyme and pathway databases | |
| Reactome | REACT_15518. Transmembrane transport of small molecules. |
Gene expression databases | |
| ArrayExpress | O95528. |
| Bgee | O95528. |
| CleanEx | HS_SLC2A10. |
| Genevestigator | O95528. |
| GermOnline | ENSG00000197496. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR020846. MFS_dom. IPR016196. MFS_dom_general_subst_transpt. IPR005828. Sub_transporter. IPR003663. Sugar/inositol_transpt. IPR005829. Sugar_transporter_CS. [Graphical view] |
| Pfam | PF00083. Sugar_tr. 2 hits. [Graphical view] |
| PRINTS | PR00171. SUGRTRNSPORT. |
| SUPFAM | SSF103473. MFS_gen_substrate_transporter. 1 hit. |
| PROSITE | PS50850. MFS. 1 hit. PS00216. SUGAR_TRANSPORT_1. 2 hits. PS00217. SUGAR_TRANSPORT_2. False negative. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | SLC2A10. human. |
| GenomeRNAi | 81031. |
| NextBio | 71362. |
| SOURCE | Search... |
Entry information
| Entry name | GTR10_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O95528 Secondary accession number(s): A8K4J6, Q3MIX5, Q9H4I6 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 20 Human chromosome 20: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
