Equilibrative nucleoside transporter 1: Difference between revisions
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==Genomics== |
==Genomics== |
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The gene encoding this protein is located on the short arm of chromosome 6 at 6p21.2-p21.1 on the Watson (plus) strand. It is 14,647 bases in length. The encoded protein has 456 amino acid residues with 11 predicted transmembrane domains. The predicted molecular weight is 50.219 kiloDaltons. The protein is post translationally glycosylated and expressed in all tissue with the apparent exception of [[skeletal muscle]]. The highest levels are found in the [[liver]], [[heart]], [[testis]], [[spleen]], [[lung]], [[kidney]] and [[brain]]. |
The gene encoding this protein is located on the short arm of [[chromosome 6]] at 6p21.2-p21.1 on the Watson (plus) strand. It is 14,647 bases in length. The encoded protein has 456 amino acid residues with 11 predicted transmembrane domains. The predicted molecular weight is 50.219 kiloDaltons. The protein is post translationally glycosylated and expressed in all tissue with the apparent exception of [[skeletal muscle]]. The highest levels are found in the [[liver]], [[heart]], [[testis]], [[spleen]], [[lung]], [[kidney]] and [[brain]]. |
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== Interactive pathway map == |
== Interactive pathway map == |
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Revision as of 14:39, 13 January 2012
Equilibrative nucleoside transporter 1 (ENT1) is a protein that in humans is encoded by the SLC29A1 gene.[1][2]
Genomics
The gene encoding this protein is located on the short arm of chromosome 6 at 6p21.2-p21.1 on the Watson (plus) strand. It is 14,647 bases in length. The encoded protein has 456 amino acid residues with 11 predicted transmembrane domains. The predicted molecular weight is 50.219 kiloDaltons. The protein is post translationally glycosylated and expressed in all tissue with the apparent exception of skeletal muscle. The highest levels are found in the liver, heart, testis, spleen, lung, kidney and brain.
Interactive pathway map
Click on genes, proteins and metabolites below to link to respective articles.[§ 1]
- ^ The interactive pathway map can be edited at WikiPathways: "FluoropyrimidineActivity_WP1601".
Clinical
Mutations in this gene have been associated with H syndrome, pigmented hypertrichosis with insulin dependent diabetes and Faisalabad histiocytosis.[3]
See also
References
- ^ Griffiths M, Beaumont N, Yao SY, Sundaram M, Boumah CE, Davies A, Kwong FY, Coe I, Cass CE, Young JD, Baldwin SA (1997). "Cloning of a human nucleoside transporter implicated in the cellular uptake of adenosine and chemotherapeutic drugs". Nat Med. 3 (1): 89–93. doi:10.1038/nm0197-89. PMID 8986748.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ Coe IR, Griffiths M, Young JD, Baldwin SA, Cass CE (1998). "Assignment of the human equilibrative nucleoside transporter (hENT1) to 6p21.1-p21.2". Genomics. 45 (2): 459–60. doi:10.1006/geno.1997.4928. PMID 9344680.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ Bolze A, Abhyankar A, Grant AV, Patel B, Yadav R, Byun M, Caillez D, Emile JF, Pastor-Anglada M, Abel L, Puel A, Govindarajan R, de Pontual L, Casanova JL (2012) A mild form of SLC29A3 disorder: A frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant. PLoS One 7(1):e29708.
Further reading
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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