Solute carrier family 2, facilitated glucose transporter member 10

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functionⁱ

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityⁱ

• D-glucose

  • Search proteins in UniProtKB for this molecule.
  • Search chemical reactions in Rhea for this molecule.
  • See the description of this molecule in ChEBI.

  (out) = D-glucose

  • Search proteins in UniProtKB for this molecule.
  • Search chemical reactions in Rhea for this molecule.
  • See the description of this molecule in ChEBI.

  (in)1 Publication

  Manual assertion based on experiment inⁱ

  • Ref.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], FUNCTION, CATALYTIC ACTIVITY, BIOPHYSICOCHEMICAL PROPERTIES, TISSUE SPECIFICITY.
  Source: Rhea

  • Search for this reaction in UniProtKB.
  • See the description of this reaction in Rhea.

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  D-glucose

  • Search proteins in UniProtKB for this molecule.
  • Search chemical reactions in Rhea for this molecule.
  • See the description of this molecule in ChEBI.

  (out)

  zoom

  =

  D-glucose

  • Search proteins in UniProtKB for this molecule.
  • Search chemical reactions in Rhea for this molecule.
  • See the description of this molecule in ChEBI.

  (in)

  zoom

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsⁱ

Sites

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functionⁱ

• carbohydrate:proton symporter activity Source: UniProtKB <p>Non-traceable Author Statement</p> <p>Used for statements in the abstract, introduction or discussion of a paper that cannot be traced back to another publication.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#nas">GO evidence code guide</a></p> Non-traceable author statementⁱ
  • Ref.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].
• dehydroascorbic acid transmembrane transporter activity Source: ARUK-UCL <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ
  • "Glucose transporter type 10-lacking in arterial tortuosity syndrome-facilitates dehydroascorbic acid transport."
    Nemeth C.E., Marcolongo P., Gamberucci A., Fulceri R., Benedetti A., Zoppi N., Ritelli M., Chiarelli N., Colombi M., Willaert A., Callewaert B.L., Coucke P.J., Grof P., Nagy S.K., Meszaros T., Banhegyi G., Margittai E.
    FEBS Lett 590:1630-1640(2016) [PubMed] [Europe PMC] [Abstract]
• D-glucose transmembrane transporter activity Source: ARUK-UCLInferred from direct assayⁱ
  • Ref.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], FUNCTION, CATALYTIC ACTIVITY, BIOPHYSICOCHEMICAL PROPERTIES, TISSUE SPECIFICITY.

GO - Biological processⁱ

• artery development Source: ARUK-UCL <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ
  • Ref.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 ATORS ARG-81, SUBCELLULAR LOCATION, FUNCTION.
  • "Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families."
    Faiyaz-Ul-Haque M., Zaidi S.H., Wahab A.A., Eltohami A., Al-Mureikhi M.S., Al-Thani G., Peltekova V.D., Tsui L.C., Teebi A.S.
    Clin Genet 74:189-193(2008) [PubMed] [Europe PMC] [Abstract]
• cell redox homeostasis Source: ARUK-UCLInferred from mutant phenotypeⁱ
  • "GLUT10 deficiency leads to oxidative stress and non-canonical alphavbeta3 integrin-mediated TGFbeta signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts."
    Zoppi N., Chiarelli N., Cinquina V., Ritelli M., Colombi M.
    Hum Mol Genet 24:6769-6787(2015) [PubMed] [Europe PMC] [Abstract]
• dehydroascorbic acid transport Source: ARUK-UCLInferred from direct assayⁱ
  • "Glucose transporter type 10-lacking in arterial tortuosity syndrome-facilitates dehydroascorbic acid transport."
    Nemeth C.E., Marcolongo P., Gamberucci A., Fulceri R., Benedetti A., Zoppi N., Ritelli M., Chiarelli N., Colombi M., Willaert A., Callewaert B.L., Coucke P.J., Grof P., Nagy S.K., Meszaros T., Banhegyi G., Margittai E.
    FEBS Lett 590:1630-1640(2016) [PubMed] [Europe PMC] [Abstract]
• embryonic skeletal joint development Source: ARUK-UCLInferred from mutant phenotypeⁱ
  • "Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families."
    Faiyaz-Ul-Haque M., Zaidi S.H., Wahab A.A., Eltohami A., Al-Mureikhi M.S., Al-Thani G., Peltekova V.D., Tsui L.C., Teebi A.S.
    Clin Genet 74:189-193(2008) [PubMed] [Europe PMC] [Abstract]
• galactose transmembrane transport Source: ARUK-UCL <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#tas">GO evidence code guide</a></p> Traceable author statementⁱ
  • Ref.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 ATORS ARG-81, SUBCELLULAR LOCATION, FUNCTION.
• glucose import across plasma membrane Source: ARUK-UCLInferred from direct assayⁱ
  • Ref.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], FUNCTION, CATALYTIC ACTIVITY, BIOPHYSICOCHEMICAL PROPERTIES, TISSUE SPECIFICITY.
• glucose transmembrane transport Source: UniProtKBNon-traceable author statementⁱ
  • Ref.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].
• hexose transmembrane transport Source: Reactome
• negative regulation of connective tissue growth factor production Source: ARUK-UCLInferred from mutant phenotypeⁱ
  • Ref.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 ATORS ARG-81, SUBCELLULAR LOCATION, FUNCTION.
  • "GLUT10 deficiency leads to oxidative stress and non-canonical alphavbeta3 integrin-mediated TGFbeta signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts."
    Zoppi N., Chiarelli N., Cinquina V., Ritelli M., Colombi M.
    Hum Mol Genet 24:6769-6787(2015) [PubMed] [Europe PMC] [Abstract]
• negative regulation of gene expression Source: ARUK-UCLInferred from mutant phenotypeⁱ
  • Ref.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 ATORS ARG-81, SUBCELLULAR LOCATION, FUNCTION.
• negative regulation of integrin-mediated signaling pathway Source: ARUK-UCLInferred from mutant phenotypeⁱ
  • "GLUT10 deficiency leads to oxidative stress and non-canonical alphavbeta3 integrin-mediated TGFbeta signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts."
    Zoppi N., Chiarelli N., Cinquina V., Ritelli M., Colombi M.
    Hum Mol Genet 24:6769-6787(2015) [PubMed] [Europe PMC] [Abstract]
• negative regulation of proteoglycan biosynthetic process Source: ARUK-UCLInferred from mutant phenotypeⁱ
  • Ref.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 ATORS ARG-81, SUBCELLULAR LOCATION, FUNCTION.
• negative regulation of SMAD protein signal transduction Source: ARUK-UCLInferred from mutant phenotypeⁱ
  • Ref.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 ATORS ARG-81, SUBCELLULAR LOCATION, FUNCTION.
• negative regulation of transforming growth factor beta receptor signaling pathway Source: ARUK-UCLInferred from mutant phenotypeⁱ
  • Ref.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 ATORS ARG-81, SUBCELLULAR LOCATION, FUNCTION.
  • "GLUT10 deficiency leads to oxidative stress and non-canonical alphavbeta3 integrin-mediated TGFbeta signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts."
    Zoppi N., Chiarelli N., Cinquina V., Ritelli M., Colombi M.
    Hum Mol Genet 24:6769-6787(2015) [PubMed] [Europe PMC] [Abstract]
• positive regulation of gene expression Source: ARUK-UCLInferred from mutant phenotypeⁱ
  • Ref.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 ATORS ARG-81, SUBCELLULAR LOCATION, FUNCTION.
• positive regulation of proteoglycan biosynthetic process Source: ARUK-UCLInferred from mutant phenotypeⁱ
  • Ref.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 ATORS ARG-81, SUBCELLULAR LOCATION, FUNCTION.
• positive regulation of transforming growth factor beta receptor signaling pathway Source: ARUK-UCLInferred from mutant phenotypeⁱ
  • "GLUT10 deficiency leads to oxidative stress and non-canonical alphavbeta3 integrin-mediated TGFbeta signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts."
    Zoppi N., Chiarelli N., Cinquina V., Ritelli M., Colombi M.
    Hum Mol Genet 24:6769-6787(2015) [PubMed] [Europe PMC] [Abstract]
• regulation of extracellular matrix organization Source: ARUK-UCLInferred from mutant phenotypeⁱ
  • "GLUT10 deficiency leads to oxidative stress and non-canonical alphavbeta3 integrin-mediated TGFbeta signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts."
    Zoppi N., Chiarelli N., Cinquina V., Ritelli M., Colombi M.
    Hum Mol Genet 24:6769-6787(2015) [PubMed] [Europe PMC] [Abstract]
• skin development Source: ARUK-UCLInferred from mutant phenotypeⁱ
  • "Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families."
    Faiyaz-Ul-Haque M., Zaidi S.H., Wahab A.A., Eltohami A., Al-Mureikhi M.S., Al-Thani G., Peltekova V.D., Tsui L.C., Teebi A.S.
    Clin Genet 74:189-193(2008) [PubMed] [Europe PMC] [Abstract]
• transport across blood-brain barrier Source: ARUK-UCLNon-traceable author statementⁱ
  • "Blood-Brain Barrier: From Physiology to Disease and Back."
    Sweeney M.D., Zhao Z., Montagne A., Nelson A.R., Zlokovic B.V.
    Physiol Rev 99:21-78(2019) [PubMed] [Europe PMC] [Abstract]

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsⁱ

Enzyme and pathway databases

Protein family/group databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyⁱ

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationⁱ

Topology

Keywords - Cellular componentⁱ

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechⁱ

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseaseⁱ

Keywords - Diseaseⁱ

Organism-specific databases

Miscellaneous databases

Chemistry databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingⁱ

Molecule processing

Amino acid modifications

Keywords - PTMⁱ

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressionⁱ

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityⁱ

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactionⁱ

Protein-protein interaction databases

Miscellaneous databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsⁱ

Region

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesⁱ

Keywords - Domainⁱ

Phylogenomic databases

Family and domain databases

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)ⁱ

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusⁱ: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

        10         20         30         40         50
MGHSPPVLPL CASVSLLGGL TFGYELAVIS GALLPLQLDF GLSCLEQEFL 
        60         70         80         90        100
VGSLLLGALL ASLVGGFLID CYGRKQAILG SNLVLLAGSL TLGLAGSLAW 
       110        120        130        140        150
LVLGRAVVGF AISLSSMACC IYVSELVGPR QRGVLVSLYE AGITVGILLS 
       160        170        180        190        200
YALNYALAGT PWGWRHMFGW ATAPAVLQSL SLLFLPAGTD ETATHKDLIP 
       210        220        230        240        250
LQGGEAPKLG PGRPRYSFLD LFRARDNMRG RTTVGLGLVL FQQLTGQPNV 
       260        270        280        290        300
LCYASTIFSS VGFHGGSSAV LASVGLGAVK VAATLTAMGL VDRAGRRALL 
       310        320        330        340        350
LAGCALMALS VSGIGLVSFA VPMDSGPSCL AVPNATGQTG LPGDSGLLQD 
       360        370        380        390        400
SSLPPIPRTN EDQREPILST AKKTKPHPRS GDPSAPPRLA LSSALPGPPL 
       410        420        430        440        450
PARGHALLRW TALLCLMVFV SAFSFGFGPV TWLVLSEIYP VEIRGRAFAF 
       460        470        480        490        500
CNSFNWAANL FISLSFLDLI GTIGLSWTFL LYGLTAVLGL GFIYLFVPET 
       510        520        530        540 
KGQSLAEIDQ QFQKRRFTLS FGHRQNSTGI PYSRIEISAA S          

Natural variant

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityⁱ

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsⁱ

• 90% Identity
• 50% Identity

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesⁱ

Sequence databases

3D structure databases

Protein-protein interaction databases

Chemistry databases

Protein family/group databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationⁱ

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousⁱ

Keywords - Technical termⁱ

Documents

1. Human polymorphisms and disease mutations
   Index of human polymorphisms and disease mutations
2. MIM cross-references
   Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
3. SIMILARITY comments
   Index of protein domains and families
4. Human chromosome 20
   Human chromosome 20: entries, gene names and cross-references to MIM
5. Human entries with polymorphisms or disease mutations
   List of human entries with polymorphisms or disease mutations