2024-04-20 17:25:01, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_145913 3286 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA. ACCESSION NM_145913 VERSION NM_145913.3 GI:167466277 KEYWORDS RefSeq. 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 3286) AUTHORS Coothankandaswamy,V., Elangovan,S., Singh,N., Prasad,P.D., Thangaraju,M. and Ganapathy,V. TITLE The plasma membrane transporter SLC5A8 suppresses tumour progression through depletion of survivin without involving its transport function JOURNAL Biochem. J. 450 (1), 169-178 (2013) PUBMED 23167260 REMARK GeneRIF: SLC5A8 suppresses tumour progression through depletion of survivin without involving its transport function REFERENCE 2 (bases 1 to 3286) AUTHORS Helm,J., Coppola,D., Ganapathy,V., Lloyd,M., Centeno,B.A., Chen,D.T., Malafa,M.P. and Park,J.Y. TITLE SLC5A8 nuclear translocation and loss of expression are associated with poor outcome in pancreatic ductal adenocarcinoma JOURNAL Pancreas 41 (6), 904-909 (2012) PUBMED 22450368 REMARK GeneRIF: SLC5A8 nuclear translocation and loss of expression are associated with poor outcome in pancreatic ductal adenocarcinoma. REFERENCE 3 (bases 1 to 3286) AUTHORS Lin,H.Y., Park,H.Y., Radlein,S., Mahajan,N.P., Sellers,T.A., Zachariah,B., Pow-Sang,J., Coppola,D., Ganapathy,V. and Park,J.Y. TITLE Protein expressions and genetic variations of SLC5A8 in prostate cancer risk and aggressiveness JOURNAL Urology 78 (4), 971 (2011) PUBMED 21802122 REMARK GeneRIF: SLC5A8 has a role in prostate cancer risk and aggressiveness REFERENCE 4 (bases 1 to 3286) AUTHORS Campa,D., Husing,A., Chang-Claude,J., Dostal,L., Boeing,H., Kroger,J., Tjonneland,A., Roswall,N., Overvad,K., Dahm,C.C., Rodriguez,L., Sala,N., Perez,M.J., Larranaga,N., Chirlaque,M.D., Ardanaz,E., Khaw,K.T., Wareham,N., Allen,N.E., Travis,R.C., Trichopoulou,A., Naska,A., Bamia,C., Palli,D., Sieri,S., Tumino,R., Sacerdote,C., van Kranen,H.J., Bas Bueno-de-Mesquita,H., Stattin,P., Johansson,M., Chajes,V., Rinaldi,S., Romieu,I., Siddiq,A., Norat,T., Riboli,E., Kaaks,R. and Canzian,F. TITLE Genetic variability of the fatty acid synthase pathway is not associated with prostate cancer risk in the European Prospective Investigation on Cancer (EPIC) JOURNAL Eur. J. Cancer 47 (3), 420-427 (2011) PUBMED 20965718 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 5 (bases 1 to 3286) AUTHORS Brim,H., Kumar,K., Nazarian,J., Hathout,Y., Jafarian,A., Lee,E., Green,W., Smoot,D., Park,J., Nouraie,M. and Ashktorab,H. TITLE SLC5A8 gene, a transporter of butyrate: a gut flora metabolite, is frequently methylated in African American colon adenomas JOURNAL PLoS ONE 6 (6), E20216 (2011) PUBMED 21687703 REMARK GeneRIF: SLC5A8 is highly methylated in African American colon adenomas REFERENCE 6 (bases 1 to 3286) AUTHORS Hong,C., Maunakea,A., Jun,P., Bollen,A.W., Hodgson,J.G., Goldenberg,D.D., Weiss,W.A. and Costello,J.F. TITLE Shared epigenetic mechanisms in human and mouse gliomas inactivate expression of the growth suppressor SLC5A8 JOURNAL Cancer Res. 65 (9), 3617-3623 (2005) PUBMED 15867356 REMARK GeneRIF: Data suggest that SLC5A8 functions as a growth suppressor gene in vitro and that it is silenced frequently by epigenetic mechanisms in primary gliomas. REFERENCE 7 (bases 1 to 3286) AUTHORS Gopal,E., Fei,Y.J., Sugawara,M., Miyauchi,S., Zhuang,L., Martin,P., Smith,S.B., Prasad,P.D. and Ganapathy,V. TITLE Expression of slc5a8 in kidney and its role in Na(+)-coupled transport of lactate JOURNAL J. Biol. Chem. 279 (43), 44522-44532 (2004) PUBMED 15322102 REFERENCE 8 (bases 1 to 3286) AUTHORS Miyauchi,S., Gopal,E., Fei,Y.J. and Ganapathy,V. TITLE Functional identification of SLC5A8, a tumor suppressor down-regulated in colon cancer, as a Na(+)-coupled transporter for short-chain fatty acids JOURNAL J. Biol. Chem. 279 (14), 13293-13296 (2004) PUBMED 14966140 REMARK GeneRIF: functional identity of SLC5A8 as a Na(+)-coupled transporter for short-chain fatty acids. REFERENCE 9 (bases 1 to 3286) AUTHORS Lacroix,L., Pourcher,T., Magnon,C., Bellon,N., Talbot,M., Intaraphairot,T., Caillou,B., Schlumberger,M. and Bidart,J.M. TITLE Expression of the apical iodide transporter in human thyroid tissues: a comparison study with other iodide transporters JOURNAL J. Clin. Endocrinol. Metab. 89 (3), 1423-1428 (2004) PUBMED 15001644 REMARK GeneRIF: In thyroid carcinomas, the mean and median hAIT mRNA levels were significantly decreased REFERENCE 10 (bases 1 to 3286) AUTHORS Li,H., Myeroff,L., Smiraglia,D., Romero,M.F., Pretlow,T.P., Kasturi,L., Lutterbaugh,J., Rerko,R.M., Casey,G., Issa,J.P., Willis,J., Willson,J.K., Plass,C. and Markowitz,S.D. TITLE SLC5A8, a sodium transporter, is a tumor suppressor gene silenced by methylation in human colon aberrant crypt foci and cancers JOURNAL Proc. Natl. Acad. Sci. U.S.A. 100 (14), 8412-8417 (2003) PUBMED 12829793 REMARK GeneRIF: SLC5A8 exon 1 methylation is an early event, detectable in colon adenomas & microscopic aberrant crypt foci. SLC5A8 is a member of the family of sodium solute symporters, now added to the candidate colon cancer suppressor genes. COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC079953.28 and BC110492.2. On Feb 8, 2008 this sequence version replaced gi:33942075. Summary: SLC5A8 has been shown to transport iodide by a passive mechanism (Rodriguez et al., 2002 [PubMed 12107270]) and monocarboxylates and short-chain fatty acids by a sodium-coupled mechanism (Gopal et al., 2004 [PubMed 15322102]). In kidney, SLC5A8 functions as a high-affinity sodium-coupled lactate transporter involved in reabsorption of lactate and maintenance of blood lactate levels (Thangaraju et al., 2006 [PubMed 16873376]).[supplied by OMIM, Dec 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because transcript sequence consistent with the reference genome assembly was not available for all regions of the RefSeq transcript. The extent of this transcript is supported by transcript alignments. 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 :: AF536216.1, AY081220.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025082, ERS025084 [ECO:0000350] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-365 AC079953.28 48062-48426 366-2051 BC110492.2 1-1686 2052-2052 AC079953.28 100003-100003 2053-2670 BC110492.2 1688-2305 2671-3286 AC079953.28 101469-102084 FEATURES Location/Qualifiers source 1..3286 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="12" /map="12q23.1" gene 1..3286 /gene="SLC5A8" /gene_synonym="AIT; SMCT; SMCT1" /note="solute carrier family 5 (iodide transporter), member 8" /db_xref="GeneID:160728" /db_xref="HGNC:19119" /db_xref="MIM:608044" exon 1..741 /gene="SLC5A8" /gene_synonym="AIT; SMCT; SMCT1" /inference="alignment:Splign:1.39.8" misc_feature 313..315 /gene="SLC5A8" /gene_synonym="AIT; SMCT; SMCT1" /note="upstream in-frame stop codon" CDS 391..2223 /gene="SLC5A8" /gene_synonym="AIT; SMCT; SMCT1" /note="apical iodide transporter; solute carrier family 5 member 8; sodium iodide-related cotransporter; electrogenic sodium monocarboxylate cotransporter" /codon_start=1 /product="sodium-coupled monocarboxylate transporter 1" /protein_id="NP_666018.3" /db_xref="GI:167466278" /db_xref="CCDS:CCDS9080.1" /db_xref="GeneID:160728" /db_xref="HGNC:19119" /db_xref="MIM:608044" /translation="
MDTPRGIGTFVVWDYVVFAGMLVISAAIGIYYAFAGGGQQTSKDFLMGGRRMTAVPVALSLTASFMSAVTVLGTPSEVYRFGAIFSIFAFTYFFVVVISAEVFLPVFYKLGITSTYEYLELRFNKCVRLCGTVLFIVQTILYTGIVIYAPALALNQVTGFDLWGAVVATGVVCTFYCTLGGLKAVIWTDVFQVGIMVAGFASVIIQAVVMQGGISTILNDAYDGGRLNFWNFNPNPLQRHTFWTIIIGGTFTWTSIYGVNQSQVQRYISCKSRFQAKLSLYINLVGLWAILTCSVFCGLALYSRYHDCDPWTAKKVSAPDQLMPYLVLDILQDYPGLPGLFVACAYSGTLSTVSSSINALAAVTVEDLIKPYFRSLSERSLSWISQGMSVVYGALCIGMAALASLMGALLQAALSVFGMVGGPLMGLFALGILVPFANSIGALVGLMAGFAISLWVGIGAQIYPPLPERTLPLHLDIQGCNSTYNETNLMTTTEMPFTTSVFQIYNVQRTPLMDNWYSLSYLYFSTVGTLVTLLVGILVSLSTGGRKQNLDPRYILTKEDFLSNFDIFKKKKHVLSYKSHPVEDGGTDNPAFNHIELNSDQSGKSNGTRL
" misc_feature 409..1962 /gene="SLC5A8" /gene_synonym="AIT; SMCT; SMCT1" /note="Na(+)/monocarboxylate cotransporter SMCT1 and related proteins; solute-binding domain; Region: SLC5sbd_SMCT1; cd11519" /db_xref="CDD:212088" misc_feature 418..480 /gene="SLC5A8" /gene_synonym="AIT; SMCT; SMCT1" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q8N695.2); transmembrane region" misc_feature 544..606 /gene="SLC5A8" /gene_synonym="AIT; SMCT; SMCT1" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q8N695.2); transmembrane region" misc_feature order(577..579,586..588,1432..1434,1441..1446) /gene="SLC5A8" /gene_synonym="AIT; SMCT; SMCT1" /note="Na binding site [ion binding]; other site" /db_xref="CDD:212088" misc_feature 640..702 /gene="SLC5A8" /gene_synonym="AIT; SMCT; SMCT1" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q8N695.2); transmembrane region" misc_feature 787..849 /gene="SLC5A8" /gene_synonym="AIT; SMCT; SMCT1" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q8N695.2); transmembrane region" misc_feature 874..936 /gene="SLC5A8" /gene_synonym="AIT; SMCT; SMCT1" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q8N695.2); transmembrane region" misc_feature 958..1020 /gene="SLC5A8" /gene_synonym="AIT; SMCT; SMCT1" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q8N695.2); transmembrane region" misc_feature 1108..1170 /gene="SLC5A8" /gene_synonym="AIT; SMCT; SMCT1" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q8N695.2); transmembrane region" misc_feature 1228..1290 /gene="SLC5A8" /gene_synonym="AIT; SMCT; SMCT1" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q8N695.2); transmembrane region" misc_feature 1399..1467 /gene="SLC5A8" /gene_synonym="AIT; SMCT; SMCT1" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q8N695.2); transmembrane region" misc_feature 1558..1620 /gene="SLC5A8" /gene_synonym="AIT; SMCT; SMCT1" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q8N695.2); transmembrane region" misc_feature 1636..1698 /gene="SLC5A8" /gene_synonym="AIT; SMCT; SMCT1" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q8N695.2); transmembrane region" misc_feature 1708..1770 /gene="SLC5A8" /gene_synonym="AIT; SMCT; SMCT1" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q8N695.2); transmembrane region" misc_feature 1831..1833 /gene="SLC5A8" /gene_synonym="AIT; SMCT; SMCT1" /note="putative glycosylation site [posttranslational modification]; other site" /db_xref="CDD:212088" misc_feature 1843..1845 /gene="SLC5A8" /gene_synonym="AIT; SMCT; SMCT1" /note="putative glycosylation site [posttranslational modification]; other site" /db_xref="CDD:212088" misc_feature 1945..2007 /gene="SLC5A8" /gene_synonym="AIT; SMCT; SMCT1" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q8N695.2); transmembrane region" exon 742..807 /gene="SLC5A8" /gene_synonym="AIT; SMCT; SMCT1" /inference="alignment:Splign:1.39.8" exon 808..859 /gene="SLC5A8" /gene_synonym="AIT; SMCT; SMCT1" /inference="alignment:Splign:1.39.8" exon 860..927 /gene="SLC5A8" /gene_synonym="AIT; SMCT; SMCT1" /inference="alignment:Splign:1.39.8" exon 928..1082 /gene="SLC5A8" /gene_synonym="AIT; SMCT; SMCT1" /inference="alignment:Splign:1.39.8" exon 1083..1223 /gene="SLC5A8" /gene_synonym="AIT; SMCT; SMCT1" /inference="alignment:Splign:1.39.8" exon 1224..1353 /gene="SLC5A8" /gene_synonym="AIT; SMCT; SMCT1" /inference="alignment:Splign:1.39.8" exon 1354..1442 /gene="SLC5A8" /gene_synonym="AIT; SMCT; SMCT1" /inference="alignment:Splign:1.39.8" exon 1443..1555 /gene="SLC5A8" /gene_synonym="AIT; SMCT; SMCT1" /inference="alignment:Splign:1.39.8" exon 1556..1623 /gene="SLC5A8" /gene_synonym="AIT; SMCT; SMCT1" /inference="alignment:Splign:1.39.8" exon 1624..1710 /gene="SLC5A8" /gene_synonym="AIT; SMCT; SMCT1" /inference="alignment:Splign:1.39.8" exon 1711..1916 /gene="SLC5A8" /gene_synonym="AIT; SMCT; SMCT1" /inference="alignment:Splign:1.39.8" exon 1917..2020 /gene="SLC5A8" /gene_synonym="AIT; SMCT; SMCT1" /inference="alignment:Splign:1.39.8" exon 2021..2100 /gene="SLC5A8" /gene_synonym="AIT; SMCT; SMCT1" /inference="alignment:Splign:1.39.8" misc_feature 2052 /gene="SLC5A8" /gene_synonym="AIT; SMCT; SMCT1" /note="C/T" /function="polymorphic site" variation 2052 /gene="SLC5A8" /gene_synonym="AIT; SMCT; SMCT1" /replace="c" /replace="t" /db_xref="dbSNP:2671444" exon 2101..3286 /gene="SLC5A8" /gene_synonym="AIT; SMCT; SMCT1" /inference="alignment:Splign:1.39.8" variation 3104 /gene="SLC5A8" /gene_synonym="AIT; SMCT; SMCT1" /replace="a" /replace="g" /db_xref="dbSNP:2279834" ORIGIN
gaacaaaacctgcccagagcgctccctgtgtagattcgctggaagcagctggaggctccagttctcatctgctcaggtgtccccggcgccttggcgaactcggccactccagttcctcacgtggtgagcactcagggcagcgggtcgattttccgaggtcccatacctgggtttgaggggcgcggctcgcagcggcgggtgcaggggcgactgccagccctcaccccgcctcggggtgcgttcggaggccgacacctggaggacgcctccagtccccgcgggacgccacgcctgcgcgccagggatccgggataagaagtgcgcgccgggctccggctgcgcgccgcggggccaccagtttgcgcgcagggctcaggcgaccgtgcggccatggacacgccacggggcatcggcaccttcgtggtgtgggactacgtggtgttcgcgggcatgctggtcatctcggccgccatcggcatctactacgccttcgctgggggcggccagcagacctccaaggacttcctgatgggcggccgcagaatgaccgcagtgcccgtggcgctgtccctcaccgctagcttcatgtcagccgtcactgtcctgggcaccccctccgaggtctaccgttttggggccatttttagcatctttgccttcacctacttctttgtggtggtcatcagcgcggaggtcttcctcccggtgttctacaaactgggaattaccagcacctacgagtatttagaacttcgatttaacaaatgtgttcgtctctgtggaacagtcctcttcattgttcaaacaattctgtatactggaattgttatttatgcccctgccctggctttgaatcaagtcacaggatttgatctgtggggcgcggtagtggcaacgggggtggtctgcacattctactgcacactgggtggtcttaaagcagttatctggacagatgtttttcaagttgggatcatggtggctggatttgcatccgtgattatacaggctgtggtgatgcaaggtggaatcagcactattttaaatgatgcctatgatggtggaagattaaatttctggaattttaatcctaaccctttgcaaagacacaccttctggacaattattataggagggaccttcacatggaccagcatctacggtgtcaaccaatcccaggtgcagagatatatttcttgtaaaagcagattccaggcaaaactgtctctctacatcaatcttgtgggactctgggcaatcctcacatgctcagtgttttgtgggctcgccctatattccaggtaccatgactgtgatccttggacagccaagaaagtgtctgcaccagaccagctcatgccttatttggtactggacattctgcaagattatccaggacttcctggactttttgtggcctgtgcttacagtgggacattaagcacagtgtcctccagtattaatgccttagcagcagtaactgtggaagatctaatcaaaccttacttcagatcgctctcagaaaggtctctgtcttggatttcccaaggaatgagtgtggtgtatggagccctgtgtattggaatggctgcgctggcgtcacttatgggagctttgttgcaggcagcactcagcgtatttggtatggttggtggaccacttatgggcctgttcgctttgggcattttggttccctttgccaactcaattggagcacttgttggtctgatggctggatttgccatttctctatgggttggaattggagctcaaatatatcctccacttcctgagagaacattgccattgcaccttgatatccaaggctgtaacagcacctacaatgagacaaatttgatgacaaccacagaaatgccatttactactagtgtttttcaaatatacaatgttcaaaggactccactgatggataactggtattctttatcatatctgtacttcagcactgttggaactttggtaacattattagtggggatacttgtcagtttatcaacaggaggaagaaaacagaacttagaccccagatacatactaaccaaagaggactttttatccaattttgatatttttaagaaaaagaagcatgttttgagctataaatcacatccagtggaagatggtggaactgataatcctgctttcaaccacattgaattgaactcagatcagagtggcaagagcaatgggactcgtttgtgaagctgctctgatactagatatccttaaatgatgtttcaattttatatgttttctaagataattggatcaggttttctttgtgtgtgtgtgtgtgttgtatcatgagtgtttgggggataagtttttgttaaaacaaagtctggactatcttcatttactacatcattaattgatgttactctggagtttagaattctggcattgacatttccctctctttcctttatttcgatgaagctataattgtgaaaattgtaactacatagatgctgaaaggctaatacacacatatgcacatgtatttgattgtcaaaggtatattcttaaatttgggtattattgaaaatattttccatgccttggtgctagcatataagtttggaagtttgccaacatcacaattcatcttgaaaagagcttttttccctcctaccacatacaccattcttagggagcaatgaggtaacaggtctgtgttgtctagatctttgctttttatccccctatcagtccagggcatatactaacctgcaaactgattctgaatcaggaaggtggtaatcaataagtattctggctgggaaagaccgtgggcccaatgatcaaagtcttcttggtgctgttcattaattcttgtgccttttggcttgttttctagagtttctgggctttggctgctgatactgcctttcttagactgtaatttttatctgcatgcccagtttctgacctatcaacttgggttttattgtgcactctaactgagcttgtcttcataattttctgtttattgccctgggcttggatatgtctcaagacactcatgtgaatcatgccaccccaaatcctggcttatcaagtcccagactataaattatgaactcccattagcttggtactaacatatacttgatgtaggtatttatggacttgatgatccaagaatattatattcttcaaaatggttaagctccatggagttagatgactacacttaatgctattaagttgaacttttgaatgtcaactaatttgcaatcaattaaagatacatatgcctaga
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:160728 -> Molecular function: GO:0015293 [symporter activity] evidence: IEA GeneID:160728 -> Biological process: GO:0006811 [ion transport] evidence: TAS GeneID:160728 -> Biological process: GO:0006814 [sodium ion transport] evidence: IEA GeneID:160728 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA GeneID:160728 -> Biological process: GO:0055085 [transmembrane transport] evidence: TAS GeneID:160728 -> Cellular component: GO:0005886 [plasma membrane] evidence: TAS GeneID:160728 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA GeneID:160728 -> Cellular component: GO:0016324 [apical plasma membrane] evidence: IEA
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