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Equilibrative nucleoside transporter 1

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(Redirected from SLC29A1)
Protein-coding gene in the species Homo sapiens
SLC29A1
Identifiers
Aliases SLC29A1 , ENT1, Equilibrative nucleoside transporter 1, solute carrier family 29 member 1 (Augustine blood group)
External IDsOMIM: 602193; MGI: 1927073; HomoloGene: 37985; GeneCards: SLC29A1; OMA:SLC29A1 - orthologs
Gene location (Human)
Chromosome 6 (human)
Chr. Chromosome 6 (human) [1]
Band 6p21.1Start44,219,553 bp [1]
End44,234,142 bp [1]
Gene location (Mouse)
Chromosome 17 (mouse)
Chr. Chromosome 17 (mouse)[2]
Band 17|17 B3Start45,585,200 bp [2]
End45,599,606 bp [2]
RNA expression pattern
Bgee
Human Mouse (ortholog)
  • gastric mucosa

  • right coronary artery

  • apex of heart

  • right adrenal cortex

  • ascending aorta

  • body of stomach

  • right auricle

  • left adrenal cortex

  • muscle layer of sigmoid colon

  • Descending thoracic aorta
  • gastrula

  • stroma of bone marrow

  • ankle joint

  • lip

  • thymus

  • spermatocyte

  • calvaria

  • liver

  • lactiferous gland

  • muscle of thigh
More reference expression data
BioGPS


Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

2030

63959

Ensembl

ENSG00000112759

ENSMUSG00000023942

UniProt

Q99808

Q9JIM1

RefSeq (mRNA)
NM_001078174
NM_001078175
NM_001078176
NM_001078177
NM_001304462

NM_001304463
NM_001304465
NM_001304466
NM_004955
NM_001372327

NM_001199113
NM_001199114
NM_001199115
NM_001199116
NM_022880

NM_001357771

RefSeq (protein)
NP_001071643
NP_001071645
NP_001291391
NP_001291394
NP_001291395

NP_001359256

NP_001186042
NP_001186043
NP_001186044
NP_001186045
NP_075018

NP_001344700
NP_001363916
NP_001363917
NP_001363918
NP_001363919
NP_001363920
NP_001363921
NP_001363922
NP_001363923
NP_001363924
NP_001363925
NP_001363926
NP_001363927

Location (UCSC)Chr 6: 44.22 – 44.23 Mb Chr 17: 45.59 – 45.6 Mb
PubMed search[3] [4]
Wikidata

Equilibrative nucleoside transporter 1 (ENT1) is a protein that in humans is encoded by the SLC29A1 gene.[5] [6] Multiple alternatively spliced variants, encoding the same protein, have been found for this gene.[7] Expressed on red blood cell surfaces, these variants make up the Augustine blood group system.[8]

Function

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This gene is a member of the equilibrative nucleoside transporter family. The gene encodes a transmembrane glycoprotein that localizes to the plasma and mitochondrial membranes and mediates the cellular uptake of nucleosides from the surrounding medium. The protein is categorized as an equilibrative (as opposed to concentrative) transporter that is sensitive to inhibition by nitrobenzylmercaptopurine ribonucleoside (NBMPR). Nucleoside transporters are required for nucleotide synthesis in cells that lack de novo nucleoside synthesis pathways, and are also necessary for the uptake of cytotoxic nucleosides used for cancer and viral chemotherapies.[7]

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.

Interactive pathway map

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Click on genes, proteins and metabolites below to link to respective articles.[§ 1]

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|alt=Fluorouracil (5-FU) Activity edit]]
Fluorouracil (5-FU) Activity edit
  1. ^ The interactive pathway map can be edited at WikiPathways: "FluoropyrimidineActivity_WP1601".

Clinical significance

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Mutations in this gene have been associated with H syndrome, pigmented hypertrichosis with insulin dependent diabetes and Faisalabad histiocytosis.[9]

Alleles of this gene make up the Augustine blood group system.[8] Some of the four known variants are highly immunogenic and antibodies against them can cause acute hemolytic transfusion reaction and hemolytic disease of the fetus and newborn.[10]

See also

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References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000112759Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000023942Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Griffiths M, Beaumont N, Yao SY, Sundaram M, Boumah CE, Davies A, et al. (January 1997). "Cloning of a human nucleoside transporter implicated in the cellular uptake of adenosine and chemotherapeutic drugs". Nature Medicine. 3 (1): 89–93. doi:10.1038/nm0197-89. PMID 8986748. S2CID 10182379.
  6. ^ Coe IR, Griffiths M, Young JD, Baldwin SA, Cass CE (October 1997). "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.
  7. ^ a b "Entrez Gene: SLC29A1 solute carrier family 29 (nucleoside transporters), member 1".
  8. ^ a b Daniels G (2019). "The Augustine blood group system, 48 years in the making". Immunohematology. 32 (3): 100–103. doi:10.21307/immunohematology-2019-053 . PMID 27834482.
  9. ^ Bolze A, Abhyankar A, Grant AV, Patel B, Yadav R, Byun M, et al. (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. Bibcode:2012PLoSO...729708B. doi:10.1371/journal.pone.0029708 . PMC 3251605 . PMID 22238637.
  10. ^ Daniels G (2020). "An update on the Augustine blood group system". Immunohematology. 35 (1): 1–2. doi:10.21307/immunohematology-2020-001 . PMID 30908068.

Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.

By group
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SLC11–20
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SLC21–30
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SLC31–40
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SLC41–48
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SLCO1–4
Symporter, Cotransporter
Antiporter (exchanger)

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