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O95528 (GTR10_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 121. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Solute carrier family 2, facilitated glucose transporter member 10
Alternative name(s):
Glucose transporter type 10
Short name=GLUT-10
Gene names
Name:SLC2A10
Synonyms:GLUT10
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length541 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Facilitative glucose transporter.

Subcellular location

Endomembrane system; Multi-pass membrane protein. Cytoplasmperinuclear 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9 Ref.10

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 541541Solute carrier family 2, facilitated glucose transporter member 10
PRO_0000050379

Regions

Topological domain1 – 1515Cytoplasmic Potential
Transmembrane16 – 3621Helical; Name=1; Potential
Topological domain37 – 4812Extracellular Potential
Transmembrane49 – 6921Helical; Name=2; Potential
Topological domain70 – 778Cytoplasmic Potential
Transmembrane78 – 9821Helical; Name=3; Potential
Topological domain99 – 1068Extracellular Potential
Transmembrane107 – 12721Helical; Name=4; Potential
Topological domain128 – 1347Cytoplasmic Potential
Transmembrane135 – 15521Helical; Name=5; Potential
Topological domain156 – 16611Extracellular Potential
Transmembrane167 – 18721Helical; Name=6; Potential
Topological domain188 – 23346Cytoplasmic Potential
Transmembrane234 – 25421Helical; Name=7; Potential
Topological domain255 – 26915Extracellular Potential
Transmembrane270 – 29021Helical; Name=8; Potential
Topological domain291 – 2988Cytoplasmic Potential
Transmembrane299 – 31921Helical; Name=9; Potential
Topological domain320 – 41495Extracellular Potential
Transmembrane415 – 43521Helical; Name=10; Potential
Topological domain436 – 44510Cytoplasmic Potential
Transmembrane446 – 46621Helical; Name=11; Potential
Topological domain467 – 47610Extracellular Potential
Transmembrane477 – 49721Helical; Name=12; Potential
Topological domain498 – 54144Cytoplasmic Potential

Amino acid modifications

Glycosylation3341N-linked (GlcNAc...) Potential

Natural variations

Natural variant811S → R in ATS. Ref.9
VAR_029535
Natural variant1061A → S.
Corresponds to variant rs6094438 [ dbSNP | Ensembl ].
VAR_029536
Natural variant1321R → W in ATS. Ref.10
VAR_042417
Natural variant1421G → V in ATS. Ref.10
VAR_042418
Natural variant2061A → T Associated with lower insulin level. Ref.8
Corresponds to variant rs2235491 [ dbSNP | Ensembl ].
VAR_029335
Natural variant2251R → H.
Corresponds to variant rs34295241 [ dbSNP | Ensembl ].
VAR_042419
Natural variant2311R → Q in ATS. Ref.10
VAR_042420
Natural variant2461G → E in ATS. Ref.10
VAR_042421
Natural variant4261G → W in ATS. Ref.10
VAR_042422
Natural variant4371E → K in ATS. Ref.10
VAR_042423
Natural variant4451G → E in ATS.
VAR_042424
Natural variant5181T → A.
Corresponds to variant rs6018008 [ dbSNP | Ensembl ].
VAR_024652
Natural variant5371I → V.
Corresponds to variant rs7348121 [ dbSNP | Ensembl ].
VAR_029537

Sequences

Sequence LengthMass (Da)Tools
O95528 [UniParc].

Last modified June 1, 2001. Version 2.
Checksum: 6D644525FA136908

FASTA54156,911
        10         20         30         40         50         60 
MGHSPPVLPL CASVSLLGGL TFGYELAVIS GALLPLQLDF GLSCLEQEFL VGSLLLGALL 

        70         80         90        100        110        120 
ASLVGGFLID CYGRKQAILG SNLVLLAGSL TLGLAGSLAW LVLGRAVVGF AISLSSMACC 

       130        140        150        160        170        180 
IYVSELVGPR QRGVLVSLYE AGITVGILLS YALNYALAGT PWGWRHMFGW ATAPAVLQSL 

       190        200        210        220        230        240 
SLLFLPAGTD ETATHKDLIP LQGGEAPKLG PGRPRYSFLD LFRARDNMRG RTTVGLGLVL 

       250        260        270        280        290        300 
FQQLTGQPNV LCYASTIFSS VGFHGGSSAV LASVGLGAVK VAATLTAMGL VDRAGRRALL 

       310        320        330        340        350        360 
LAGCALMALS VSGIGLVSFA VPMDSGPSCL AVPNATGQTG LPGDSGLLQD SSLPPIPRTN 

       370        380        390        400        410        420 
EDQREPILST AKKTKPHPRS GDPSAPPRLA LSSALPGPPL PARGHALLRW TALLCLMVFV 

       430        440        450        460        470        480 
SAFSFGFGPV TWLVLSEIYP VEIRGRAFAF CNSFNWAANL FISLSFLDLI GTIGLSWTFL 

       490        500        510        520        530        540 
LYGLTAVLGL GFIYLFVPET KGQSLAEIDQ QFQKRRFTLS FGHRQNSTGI PYSRIEISAA 


S 

« Hide

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. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., 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. expand/collapse author list , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., 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. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., 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. expand/collapse author list , Dekens R., Loeys B.L., Coucke P.J., 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.
CCDSCCDS13402.1.
RefSeqNP_110404.1. NM_030777.3.
UniGeneHs.305971.

3D structure databases

ProteinModelPortalO95528.
SMRO95528. Positions 27-320, 412-509.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123350. 1 interaction.

Protein family/group databases

TCDB2.A.1.1.59. the major facilitator superfamily (mfs).

PTM databases

PhosphoSiteO95528.

Proteomic databases

MaxQBO95528.
PaxDbO95528.
PRIDEO95528.

Protocols and materials databases

DNASU81031.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000359271; ENSP00000352216; ENSG00000197496.
GeneID81031.
KEGGhsa:81031.
UCSCuc002xsl.3. human.

Organism-specific databases

CTD81031.
GeneCardsGC20P045338.
HGNCHGNC:13444. SLC2A10.
HPAHPA041015.
HPA055673.
MIM208050. phenotype.
606145. gene.
neXtProtNX_O95528.
Orphanet3342. Arterial tortuosity syndrome.
PharmGKBPA37769.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0477.
HOGENOMHOG000202868.
HOVERGENHBG051858.
InParanoidO95528.
KOK08147.
OMACYGRKQA.
OrthoDBEOG75B852.
PhylomeDBO95528.
TreeFamTF332408.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressO95528.
BgeeO95528.
CleanExHS_SLC2A10.
GenevestigatorO95528.

Family and domain databases

InterProIPR020846. MFS_dom.
IPR016196. MFS_dom_general_subst_transpt.
IPR005828. Sub_transporter.
IPR003663. Sugar/inositol_transpt.
IPR005829. Sugar_transporter_CS.
[Graphical view]
PfamPF00083. Sugar_tr. 2 hits.
[Graphical view]
PRINTSPR00171. SUGRTRNSPORT.
SUPFAMSSF103473. SSF103473. 2 hits.
PROSITEPS50850. MFS. 1 hit.
PS00216. SUGAR_TRANSPORT_1. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSSLC2A10. human.
GeneWikiSLC2A10.
GenomeRNAi81031.
NextBio71362.
PROO95528.
SOURCESearch...

Entry information

Entry nameGTR10_HUMAN
AccessionPrimary (citable) accession number: O95528
Secondary accession number(s): A8K4J6, Q3MIX5, Q9H4I6
Entry history
Integrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: June 1, 2001
Last modified: July 9, 2014
This is version 121 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 20

Human chromosome 20: entries, gene names and cross-references to MIM