LOCUS       NM_018344               2256 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens solute carrier family 29 member 3 (SLC29A3),
            transcript variant 1, mRNA.
ACCESSION   NM_018344
VERSION     NM_018344.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2256)
  AUTHORS   Tang,X., Cheng,H., Cheng,L., Liang,B., Chen,M., Zheng,X. and
            Xiao,F.
  TITLE     Identification of Coding Variants in 10q22.1 Associated with
            Vitiligo in the Chinese Han Population
  JOURNAL   Genet Test Mol Biomarkers 28 (3), 123-130 (2024)
   PUBMED   38546281
  REMARK    GeneRIF: Identification of Coding Variants in 10q22.1 Associated
            with Vitiligo in the Chinese Han Population.
REFERENCE   2  (bases 1 to 2256)
  AUTHORS   Ma,H., Qu,J., Liao,Y., Liu,L., Yan,M., Wei,Y., Xu,W., Luo,J.,
            Dai,Y., Pang,Z. and Qu,Q.
  TITLE     Equilibrative nucleotide transporter ENT3 (SLC29A3): A unique
            transporter for inherited disorders and cancers
  JOURNAL   Exp Cell Res 434 (2), 113892 (2024)
   PUBMED   38104646
  REMARK    GeneRIF: Equilibrative nucleotide transporter ENT3 (SLC29A3): A
            unique transporter for inherited disorders and cancers.
            Review article
REFERENCE   3  (bases 1 to 2256)
  AUTHORS   Shiloh,R., Lubin,R., David,O., Geron,I., Okon,E., Hazan,I.,
            Zaliova,M., Amarilyo,G., Birger,Y., Borovitz,Y., Brik,D.,
            Broides,A., Cohen-Kedar,S., Harel,L., Kristal,E., Kozlova,D.,
            Ling,G., Shapira Rootman,M., Shefer Averbuch,N., Spielman,S.,
            Trka,J., Izraeli,S., Yona,S. and Elitzur,S.
  TITLE     Loss of function of ENT3 drives histiocytosis and inflammation
            through TLR-MAPK signaling
  JOURNAL   Blood 142 (20), 1740-1751 (2023)
   PUBMED   37738562
  REMARK    GeneRIF: Loss of function of ENT3 drives histiocytosis and
            inflammation through TLR-MAPK signaling.
REFERENCE   4  (bases 1 to 2256)
  AUTHORS   Chouk,H., Ben Rejeb,M., Boussofara,L., Elmabrouk,H., Ghariani,N.,
            Sriha,B., Saad,A., H'Mida,D. and Denguezli,M.
  TITLE     Phenotypic intrafamilial variability including H syndrome and
            Rosai-Dorfman disease associated with the same c.1088G > A mutation
            in the SLC29A3 gene
  JOURNAL   Hum Genomics 15 (1), 63 (2021)
   PUBMED   34657628
  REMARK    GeneRIF: Phenotypic intrafamilial variability including H syndrome
            and Rosai-Dorfman disease associated with the same c.1088G > A
            mutation in the SLC29A3 gene.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2256)
  AUTHORS   Cliffe,S.T., Kramer,J.M., Hussain,K., Robben,J.H., de Jong,E.K., de
            Brouwer,A.P., Nibbeling,E., Kamsteeg,E.J., Wong,M., Prendiville,J.,
            James,C., Padidela,R., Becknell,C., van Bokhoven,H., Deen,P.M.,
            Hennekam,R.C., Lindeman,R., Schenck,A., Roscioli,T. and
            Buckley,M.F.
  TITLE     SLC29A3 gene is mutated in pigmented hypertrichosis with
            insulin-dependent diabetes mellitus syndrome and interacts with the
            insulin signaling pathway
  JOURNAL   Hum Mol Genet 18 (12), 2257-2265 (2009)
   PUBMED   19336477
  REMARK    GeneRIF: Five loss-of-function mutations were identified in the
            SLC29A3 gene in patients with pigmented hypertrichosis with
            insulin-dependent diabetes mellitus syndrome.
REFERENCE   6  (bases 1 to 2256)
  AUTHORS   Molho-Pessach,V., Lerer,I., Abeliovich,D., Agha,Z., Abu Libdeh,A.,
            Broshtilova,V., Elpeleg,O. and Zlotogorski,A.
  TITLE     The H syndrome is caused by mutations in the nucleoside transporter
            hENT3
  JOURNAL   Am J Hum Genet 83 (4), 529-534 (2008)
   PUBMED   18940313
  REMARK    GeneRIF: H syndrome is caused by mutations in the nucleoside
            transporter hENT3
REFERENCE   7  (bases 1 to 2256)
  AUTHORS   Schroder,B., Wrocklage,C., Pan,C., Jager,R., Kosters,B.,
            Schafer,H., Elsasser,H.P., Mann,M. and Hasilik,A.
  TITLE     Integral and associated lysosomal membrane proteins
  JOURNAL   Traffic 8 (12), 1676-1686 (2007)
   PUBMED   17897319
REFERENCE   8  (bases 1 to 2256)
  AUTHORS   Baldwin,S.A., Yao,S.Y., Hyde,R.J., Ng,A.M., Foppolo,S., Barnes,K.,
            Ritzel,M.W., Cass,C.E. and Young,J.D.
  TITLE     Functional characterization of novel human and mouse equilibrative
            nucleoside transporters (hENT3 and mENT3) located in intracellular
            membranes
  JOURNAL   J Biol Chem 280 (16), 15880-15887 (2005)
   PUBMED   15701636
  REMARK    GeneRIF: broad selectivity, low affinity nucleoside transporter
            that can also transport adenine
REFERENCE   9  (bases 1 to 2256)
  AUTHORS   Sankar,N., Machado,J., Abdulla,P., Hilliker,A.J. and Coe,I.R.
  TITLE     Comparative genomic analysis of equilibrative nucleoside
            transporters suggests conserved protein structure despite limited
            sequence identity
  JOURNAL   Nucleic Acids Res 30 (20), 4339-4350 (2002)
   PUBMED   12384580
REFERENCE   10 (bases 1 to 2256)
  AUTHORS   Hyde,R.J., Cass,C.E., Young,J.D. and Baldwin,S.A.
  TITLE     The ENT family of eukaryote nucleoside and nucleobase transporters:
            recent advances in the investigation of structure/function
            relationships and the identification of novel isoforms
  JOURNAL   Mol Membr Biol 18 (1), 53-63 (2001)
   PUBMED   11396612
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC319920.1, BC120997.1 and
            BC050589.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_018344.5.
            
            Summary: This gene encodes a nucleoside transporter. The encoded
            protein plays a role in cellular uptake of nucleosides,
            nucleobases, and their related analogs. Mutations in this gene have
            been associated with H syndrome, which is characterized by
            cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly,
            heart anomalies, and hypogonadism. A related disorder, PHID
            (pigmented hypertrichosis with insulin-dependent diabetes
            mellitus), has also been associated with mutations at this locus.
            Alternatively spliced transcript variants have been
            described.[provided by RefSeq, Mar 2010].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.858262.1,
                                           SRR1660809.102179.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373189.6/ ENSP00000362285.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-16                DC319920.1         7-22
            17-1548             BC120997.1         1-1532
            1549-2256           BC050589.1         1215-1922
FEATURES             Location/Qualifiers
     source          1..2256
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q22.1"
     gene            1..2256
                     /gene="SLC29A3"
                     /gene_synonym="ENT3; HCLAP; HJCD; PHID"
                     /note="solute carrier family 29 member 3"
                     /db_xref="GeneID:55315"
                     /db_xref="HGNC:HGNC:23096"
                     /db_xref="MIM:612373"
     exon            1..52
                     /gene="SLC29A3"
                     /gene_synonym="ENT3; HCLAP; HJCD; PHID"
                     /inference="alignment:Splign:2.1.0"
     CDS             52..1479
                     /gene="SLC29A3"
                     /gene_synonym="ENT3; HCLAP; HJCD; PHID"
                     /note="isoform a is encoded by transcript variant 1;
                     solute carrier family 29 (nucleoside transporters), member
                     3; solute carrier family 29 (equilibrative nucleoside
                     transporter), member 3"
                     /codon_start=1
                     /product="equilibrative nucleoside transporter 3 isoform
                     a"
                     /protein_id="NP_060814.4"
                     /db_xref="CCDS:CCDS7310.1"
                     /db_xref="GeneID:55315"
                     /db_xref="HGNC:HGNC:23096"
                     /db_xref="MIM:612373"
                     /translation="MAVVSEDDFQHSSNSTYRTTSSSLRADQEALLEKLLDRPPPGLQ
                     RPEDRFCGTYIIFFSLGIGSLLPWNFFITAKEYWMFKLRNSSSPATGEDPEGSDILNY
                     FESYLAVASTVPSMLCLVANFLLVNRVAVHIRVLASLTVILAIFMVITALVKVDTSSW
                     TRGFFAVTIVCMVILSGASTVFSSSIYGMTGSFPMRNSQALISGGAMGGTVSAVASLV
                     DLAASSDVRNSALAFFLTATVFLVLCMGLYLLLSRLEYARYYMRPVLAAHVFSGEEEL
                     PQDSLSAPSVASRFIDSHTPPLRPILKKTASLGFCVTYVFFITSLIYPAICTNIESLN
                     KGSGSLWTTKFFIPLTTFLLYNFADLCGRQLTAWIQVPGPNSKALPGFVLLRTCLIPL
                     FVLCNYQPRVHLKTVVFQSDVYPALLSSLLGLSNGYLSTLALLYGPKIVPRELAEATG
                     VVMSFYVCLGLTLGSACSTLLVHLI"
     exon            53..351
                     /gene="SLC29A3"
                     /gene_synonym="ENT3; HCLAP; HJCD; PHID"
                     /inference="alignment:Splign:2.1.0"
     exon            352..434
                     /gene="SLC29A3"
                     /gene_synonym="ENT3; HCLAP; HJCD; PHID"
                     /inference="alignment:Splign:2.1.0"
     exon            435..661
                     /gene="SLC29A3"
                     /gene_synonym="ENT3; HCLAP; HJCD; PHID"
                     /inference="alignment:Splign:2.1.0"
     exon            662..824
                     /gene="SLC29A3"
                     /gene_synonym="ENT3; HCLAP; HJCD; PHID"
                     /inference="alignment:Splign:2.1.0"
     exon            825..2256
                     /gene="SLC29A3"
                     /gene_synonym="ENT3; HCLAP; HJCD; PHID"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2236..2241
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC29A3"
                     /gene_synonym="ENT3; HCLAP; HJCD; PHID"
                     /note="hexamer: AATAAA"
     polyA_site      2256
                     /gene="SLC29A3"
                     /gene_synonym="ENT3; HCLAP; HJCD; PHID"
                     /note="major polyA site"
ORIGIN      
        1 agtggtcctg gccgtgcgcc ggaggcagcg gcggcgtggc gcagcggcga catggccgtt
       61 gtctcagagg acgactttca gcacagttca aactccacct acagaaccac aagcagcagt
      121 ctccgagctg accaggaggc actgcttgag aagctgctgg accgcccgcc ccctggcctg
      181 cagaggcccg aggaccgctt ctgtggcaca tacatcatct tcttcagcct gggcattggc
      241 agtctactgc catggaactt ctttatcact gccaaggagt actggatgtt caaactccgc
      301 aactcctcca gcccagccac cggggaggac cctgagggct cagacatcct gaactacttt
      361 gagagctacc ttgccgttgc ctccaccgtg ccctccatgc tgtgcctggt ggccaacttc
      421 ctgcttgtca acagggttgc agtccacatc cgtgtcctgg cctcactgac ggtcatcctg
      481 gccatcttca tggtgataac tgcactggtg aaggtggaca cttcctcctg gacccgtggc
      541 ttttttgcgg tcaccattgt ctgcatggtg atcctcagcg gtgcctccac tgtcttcagc
      601 agcagcatct acggcatgac cggctccttt cctatgagga actcccaggc actgatatca
      661 ggaggagcca tgggcgggac ggtcagcgcc gtggcctcat tggtggactt ggctgcatcc
      721 agtgatgtga ggaacagcgc cctggccttc ttcctgacgg ccactgtctt cctcgtgctc
      781 tgcatgggac tctacctgct gctgtccagg ctggagtatg ccaggtacta catgaggcct
      841 gttcttgcgg cccatgtgtt ttctggtgaa gaggagcttc cccaggactc cctcagtgcc
      901 ccttcggtgg cctccagatt cattgattcc cacacacccc ctctccgccc catcctgaag
      961 aagacggcca gcctgggctt ctgtgtcacc tacgtcttct tcatcaccag cctcatctac
     1021 cccgccatct gcaccaacat cgagtccctc aacaagggtt cgggctcact gtggaccacc
     1081 aagtttttca tccccctcac taccttcctc ctgtacaact ttgctgacct atgtggccgg
     1141 cagctcaccg cctggatcca ggtgccaggg cccaatagca aggcgctccc agggttcgtg
     1201 ctcctccgga cctgcctcat ccccctcttc gtgctctgta actaccagcc ccgcgtccac
     1261 ctgaagactg tggtcttcca gtccgatgtg taccccgcac tcctcagctc cctgctgggg
     1321 ctcagcaacg gctacctcag caccctggcc ctcctctacg ggcctaagat tgtgcccagg
     1381 gagctggctg aggccacggg agtggtgatg tccttttatg tgtgcttggg cttaacactg
     1441 ggctcagcct gctctaccct cctggtgcac ctcatctaga agggaggaca caaggacatt
     1501 ggtgcttcag agcctttgaa gatgagaaga gagtgcagga gggctggggg ccatggagga
     1561 aaggcctaaa gtttcacttg gggacagaga gcagagcaca ctcgggcctc atccctccca
     1621 agatgccagt gagccacgtc catgcccatt ccgtgcaagg cagatattcc agtcatatta
     1681 acagaacact cctgagacag ttgaagaaga aatagcacaa atcaggggta ctcccttcac
     1741 agctgatggt taacattcca ccttctttct agcccttcaa agatgctgcc agtgttcgcc
     1801 ctagagttat tacaaagcca gtgccaaaac ccagccatgg gctctttgca acctcccagc
     1861 tgcgctcatt ccagctgaca gcgagatgca agcaaatgct cagctctcct taccctgaag
     1921 gggtctccct ggaatggaag tcccctggca tggtcagtcc tcaggcccaa gactcaagtg
     1981 tgcacagacc cctgtgttct gtgggtgaac aactgcccac taaccagact ggaaaaccca
     2041 gaaagatggg ccttccatga atgcttcatt ccagagggac cagagggcct ccctgtgcaa
     2101 gggatcaagc atgtctggcc tgggttttca aaaaaagagg gatcctcatg acctggtggt
     2161 ctatggcctg ggtcaagatg agggtctttc agtgttcctg tttacaacat gtcaaagcca
     2221 ttggttcaag ggcgtaataa atacttgcgt attcaa
//
