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2024-04-20 22:39:40, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001276326 3124 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens solute carrier family 22 (organic anion/urate
transporter), member 12 (SLC22A12), transcript variant 3, mRNA.
ACCESSION NM_001276326
VERSION NM_001276326.1 GI:444299635
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 3124)
AUTHORS Nakanishi,T., Ohya,K., Shimada,S., Anzai,N. and Tamai,I.
TITLE Functional cooperation of URAT1 (SLC22A12) and URATv1 (SLC2A9) in
renal reabsorption of urate
JOURNAL Nephrol. Dial. Transplant. 28 (3), 603-611 (2013)
PUBMED 23291366
REFERENCE 2 (bases 1 to 3124)
AUTHORS Hinohara,Y., Naito,M., Okada,R., Yin,G., Higashibata,T., Tamura,T.,
Kawai,S., Morita,E., Wakai,K., Matsuo,H., Mori,A. and Hamajima,N.
TITLE No association between MTHFR C677T and serum uric acid levels among
Japanese with ABCG2 126QQ and SLC22A12 258WW
JOURNAL Nagoya J Med Sci 75 (1-2), 93-100 (2013)
PUBMED 23544272
REMARK GeneRIF: Report no association between serum uric acid and MTHFR
C677T genotype, after the influences of ABCG2 Q126X and SLC22A12
W258X were removed.
REFERENCE 3 (bases 1 to 3124)
AUTHORS Kottgen A, Albrecht E, Teumer A, Vitart V, Krumsiek J, Hundertmark
C, Pistis G, Ruggiero D, O'Seaghdha CM, Haller T, Yang Q, Tanaka T,
Johnson AD, Kutalik Z, Smith AV, Shi J, Struchalin M, Middelberg
RP, Brown MJ, Gaffo AL, Pirastu N, Li G, Hayward C, Zemunik T,
Huffman J, Yengo L, Zhao JH, Demirkan A, Feitosa MF, Liu X, Malerba
G, Lopez LM, van der Harst P, Li X, Kleber ME, Hicks AA, Nolte IM,
Johansson A, Murgia F, Wild SH, Bakker SJ, Peden JF, Dehghan A,
Steri M, Tenesa A, Lagou V, Salo P, Mangino M, Rose LM, Lehtimaki
T, Woodward OM, Okada Y, Tin A, Muller C, Oldmeadow C, Putku M,
Czamara D, Kraft P, Frogheri L, Thun GA, Grotevendt A, Gislason GK,
Harris TB, Launer LJ, McArdle P, Shuldiner AR, Boerwinkle E, Coresh
J, Schmidt H, Schallert M, Martin NG, Montgomery GW, Kubo M,
Nakamura Y, Tanaka T, Munroe PB, Samani NJ, Jacobs DR Jr, Liu K,
D'Adamo P, Ulivi S, Rotter JI, Psaty BM, Vollenweider P, Waeber G,
Campbell S, Devuyst O, Navarro P, Kolcic I, Hastie N, Balkau B,
Froguel P, Esko T, Salumets A, Khaw KT, Langenberg C, Wareham NJ,
Isaacs A, Kraja A, Zhang Q, Wild PS, Scott RJ, Holliday EG, Org E,
Viigimaa M, Bandinelli S, Metter JE, Lupo A, Trabetti E, Sorice R,
Doring A, Lattka E, Strauch K, Theis F, Waldenberger M, Wichmann
HE, Davies G, Gow AJ, Bruinenberg M, Stolk RP, Kooner JS, Zhang W,
Winkelmann BR, Boehm BO, Lucae S, Penninx BW, Smit JH, Curhan G,
Mudgal P, Plenge RM, Portas L, Persico I, Kirin M, Wilson JF, Mateo
Leach I, van Gilst WH, Goel A, Ongen H, Hofman A, Rivadeneira F,
Uitterlinden AG, Imboden M, von Eckardstein A, Cucca F, Nagaraja R,
Piras MG, Nauck M, Schurmann C, Budde K, Ernst F, Farrington SM,
Theodoratou E, Prokopenko I, Stumvoll M, Jula A, Perola M, Salomaa
V, Shin SY, Spector TD, Sala C, Ridker PM, Kahonen M, Viikari J,
Hengstenberg C, Nelson CP, Meschia JF, Nalls MA, Sharma P,
Singleton AB, Kamatani N, Zeller T, Burnier M, Attia J, Laan M,
Klopp N, Hillege HL, Kloiber S, Choi H, Pirastu M, Tore S,
Probst-Hensch NM, Volzke H, Gudnason V, Parsa A, Schmidt R,
Whitfield JB, Fornage M, Gasparini P, Siscovick DS, Polasek O,
Campbell H, Rudan I, Bouatia-Naji N, Metspalu A, Loos RJ, van Duijn
CM, Borecki IB, Ferrucci L, Gambaro G, Deary IJ, Wolffenbuttel BH,
Chambers JC, Marz W, Pramstaller PP, Snieder H, Gyllensten U,
Wright AF, Navis G, Watkins H, Witteman JC, Sanna S, Schipf S,
Dunlop MG, Tonjes A, Ripatti S, Soranzo N, Toniolo D, Chasman DI,
Raitakari O, Kao WH, Ciullo M, Fox CS, Caulfield M, Bochud M and
Gieger C.
CONSRTM LifeLines Cohort Study; CARDIoGRAM Consortium; DIAGRAM Consortium;
ICBP Consortium; MAGIC Consortium
TITLE Genome-wide association analyses identify 18 new loci associated
with serum urate concentrations
JOURNAL Nat. Genet. 45 (2), 145-154 (2013)
PUBMED 23263486
REFERENCE 4 (bases 1 to 3124)
AUTHORS Takagi,S., Omae,R., Makanga,J.O., Kawahara,T. and Inazu,T.
TITLE Simple and rapid detection method for the mutations in SLC22A12
that cause hypouricemia by allele-specific real-time polymerase
chain reaction
JOURNAL Clin. Chim. Acta 415, 330-333 (2013)
PUBMED 23148994
REFERENCE 5 (bases 1 to 3124)
AUTHORS Wempe,M.F., Lightner,J.W., Miller,B., Iwen,T.J., Rice,P.J.,
Wakui,S., Anzai,N., Jutabha,P. and Endou,H.
TITLE Potent human uric acid transporter 1 inhibitors: in vitro and in
vivo metabolism and pharmacokinetic studies
JOURNAL Drug Des Devel Ther 6, 323-339 (2012)
PUBMED 23152669
REFERENCE 6 (bases 1 to 3124)
AUTHORS Anzai,N., Miyazaki,H., Noshiro,R., Khamdang,S., Chairoungdua,A.,
Shin,H.J., Enomoto,A., Sakamoto,S., Hirata,T., Tomita,K., Kanai,Y.
and Endou,H.
TITLE The multivalent PDZ domain-containing protein PDZK1 regulates
transport activity of renal urate-anion exchanger URAT1 via its C
terminus
JOURNAL J. Biol. Chem. 279 (44), 45942-45950 (2004)
PUBMED 15304510
REMARK GeneRIF: PDZK1 plays a role in regulating the functional activity
of URAT1-mediated urate transport in the apical membrane of renal
proximal tubules.
REFERENCE 7 (bases 1 to 3124)
AUTHORS Iwai,N., Mino,Y., Hosoyamada,M., Tago,N., Kokubo,Y. and Endou,H.
TITLE A high prevalence of renal hypouricemia caused by inactive SLC22A12
in Japanese
JOURNAL Kidney Int. 66 (3), 935-944 (2004)
PUBMED 15327384
REMARK GeneRIF: SLC22A12 is a major gene for hypouricemia but not
hyperuricemia in Japanese.
GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 8 (bases 1 to 3124)
AUTHORS Ichida,K., Hosoyamada,M., Hisatome,I., Enomoto,A., Hikita,M.,
Endou,H. and Hosoya,T.
TITLE Clinical and molecular analysis of patients with renal hypouricemia
in Japan-influence of URAT1 gene on urinary urate excretion
JOURNAL J. Am. Soc. Nephrol. 15 (1), 164-173 (2004)
PUBMED 14694169
REFERENCE 9 (bases 1 to 3124)
AUTHORS Gisler,S.M., Pribanic,S., Bacic,D., Forrer,P., Gantenbein,A.,
Sabourin,L.A., Tsuji,A., Zhao,Z.S., Manser,E., Biber,J. and
Murer,H.
TITLE PDZK1: I. a major scaffolder in brush borders of proximal tubular
cells
JOURNAL Kidney Int. 64 (5), 1733-1745 (2003)
PUBMED 14531806
REFERENCE 10 (bases 1 to 3124)
AUTHORS Enomoto,A., Kimura,H., Chairoungdua,A., Shigeta,Y., Jutabha,P.,
Cha,S.H., Hosoyamada,M., Takeda,M., Sekine,T., Igarashi,T.,
Matsuo,H., Kikuchi,Y., Oda,T., Ichida,K., Hosoya,T., Shimokata,K.,
Niwa,T., Kanai,Y. and Endou,H.
TITLE Molecular identification of a renal urate anion exchanger that
regulates blood urate levels
JOURNAL Nature 417 (6887), 447-452 (2002)
PUBMED 12024214
REMARK GeneRIF: Molecular identification of a renal urate anion exchanger
that regulates blood urate levels
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AB050269.1, AP001092.5,
DA631511.1, AK315061.1, BC053348.1 and BX104022.1.
Summary: The protein encoded by this gene is a member of the
organic anion transporter (OAT) family, and it acts as a urate
transporter to regulate urate levels in blood. This protein is an
integral membrane protein primarily found in epithelial cells of
the proximal tubule of the kidney. An elevated level of serum
urate, hyperuricemia, is associated with increased incidences of
gout, and mutations in this gene cause renal hypouricemia type 1.
Alternative splicing results in multiple transcript variants.
[provided by RefSeq, Jan 2013].
Transcript Variant: This variant (3) uses an alternate in-frame
splice site in the central coding region, compared to variant 1,
resulting in an isoform (c) that is shorter than 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 :: AK315061.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025088, ERS025092 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-323 AB050269.1 1-323
324-324 AP001092.5 34063-34063
325-998 AB050269.1 325-998
999-1055 DA631511.1 517-573
1056-1172 AK315061.1 604-720
1173-1173 AP001092.5 35732-35732
1174-1571 AK315061.1 722-1119
1572-1572 AP001092.5 41542-41542
1573-1892 AK315061.1 1121-1440
1893-1893 AP001092.5 42783-42783
1894-2256 AK315061.1 1442-1804
2257-3100 BC053348.1 1902-2745
3101-3124 BX104022.1 228-251
FEATURES Location/Qualifiers
source 1..3124
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="11"
/map="11q13.1"
gene 1..3124
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/note="solute carrier family 22 (organic anion/urate
transporter), member 12"
/db_xref="GeneID:116085"
/db_xref="HGNC:17989"
/db_xref="MIM:607096"
exon 1..1149
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/inference="alignment:Splign:1.39.8"
variation 30
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:9734313"
STS 94..350
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/standard_name="REN55630"
/db_xref="UniSTS:380430"
variation 202
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:191101229"
variation 279
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:71581770"
variation 282
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="g"
/db_xref="dbSNP:138511904"
variation 324
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:559946"
variation 337
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:182715759"
variation 338
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:79768170"
variation 339
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:75351039"
STS 348..588
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/standard_name="REN55631"
/db_xref="UniSTS:380431"
STS 392..575
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/standard_name="stSG635523"
/db_xref="UniSTS:460781"
variation 394
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:191077837"
variation 438
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="c"
/db_xref="dbSNP:372424252"
variation 514
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:72922827"
variation 528
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:3825018"
STS 568..819
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/standard_name="REN55632"
/db_xref="UniSTS:380432"
variation 624
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:369334634"
variation 642
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:71581771"
variation 673
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:369153816"
variation 703
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="g"
/db_xref="dbSNP:201365068"
misc_feature 736..738
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/note="upstream in-frame stop codon"
STS 743..972
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/standard_name="REN55633"
/db_xref="UniSTS:380433"
CDS 748..2307
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/note="isoform c is encoded by transcript variant 3;
solute carrier family 22 (organic anion/cation
transporter), member 12; urate transporter 1; urate anion
exchanger 1; renal-specific transporter; organic anion
transporter 4-like protein"
/codon_start=1
/product="solute carrier family 22 member 12 isoform c"
/protein_id="NP_001263255.1"
/db_xref="GI:444299636"
/db_xref="GeneID:116085"
/db_xref="HGNC:17989"
/db_xref="MIM:607096"
/translation="
MAFSELLDLVGGLGRFQVLQTMALMVSIMWLCTQSMLENFSAAVPSHRCWAPLLDNSTAQASILGSLSPEALLAISIPPGPNQRPHQCRRFRQPQWQLLDPNATATSWSEADTEPCVDGWVYDRSIFTSTIVAKWNLVCDSHALKPMAQSIYLAGILVGAAACGPASDRFGRRLVLTWSYLQMAVMVMEWTAARARPLVMTLNSLGFSFGHGLTAAVAYGVRDWTLLQLVVSVPFFLCFLYSWWLAESARWLLTTGRLDWGLQELWRVAAINGKGAVQDTLTPEVLLSAMREELSMGQPPASLGTLLRMPGLRFRTCISTLCWFAFGFTFFGLALDLQALGSNIFLLQMFIGVVDIPAKMGALLLLSHLGRRPTLAASLLLAGLCILANTLVPHEMGALRSALAVLGLGGVGAAFTCITIYSSELFPTVLRMTAVGLGQMAARGGAILGPLVRLLGVHGPWLPLLVYGTVPVLSGLAALLLPETQSLPLPDTIQDVQNQAVKKATHGTLGNSVLKSTQF
"
misc_feature 778..2223
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/note="cation transport protein; Region: 2A0119;
TIGR00898"
/db_xref="CDD:162097"
misc_feature 1111..>1482
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/note="The Major Facilitator Superfamily (MFS) is a large
and diverse group of secondary transporters that includes
uniporters, symporters, and antiporters. MFS proteins
facilitate the transport across cytoplasmic or internal
membranes of a variety of...; Region: MFS; cd06174"
/db_xref="CDD:119392"
misc_feature <1771..2193
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/note="The Major Facilitator Superfamily (MFS) is a large
and diverse group of secondary transporters that includes
uniporters, symporters, and antiporters. MFS proteins
facilitate the transport across cytoplasmic or internal
membranes of a variety of...; Region: MFS; cd06174"
/db_xref="CDD:119392"
variation 759
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:138704367"
variation 795
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:373719760"
variation 798
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:72559738"
variation 832
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="c"
/db_xref="dbSNP:149620216"
variation 857
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:369459384"
variation 870
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:144313367"
variation 873
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:148378818"
variation 876
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:3802948"
variation 890
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200499531"
variation 940
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="g"
/replace="t"
/db_xref="dbSNP:12800450"
variation 967
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="g"
/replace="t"
/db_xref="dbSNP:200961759"
variation 971
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:141570522"
variation 981
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:377022807"
variation 993
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:3825017"
variation 1005
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:3825016"
variation 1013
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201567912"
variation 1016
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:121907896"
variation 1021
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:144328876"
variation 1052
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:61737613"
variation 1074
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:371053482"
variation 1080
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:146095398"
variation 1138
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:150428327"
exon 1150..1253
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/inference="alignment:Splign:1.39.8"
variation 1159
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:149722479"
variation 1173
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:11231825"
variation 1178
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:148915713"
variation 1223
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:374684921"
variation 1233
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:376212424"
variation 1237
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201181059"
variation 1241
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:370851012"
exon 1254..1306
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/inference="alignment:Splign:1.39.8"
exon 1307..1475
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/inference="alignment:Splign:1.39.8"
variation 1322
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:145738825"
variation 1324
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201136391"
variation 1328
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:376338940"
variation 1329
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:377128267"
variation 1377
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:371087747"
variation 1398
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="g"
/db_xref="dbSNP:373029817"
variation 1405
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="g"
/replace="t"
/db_xref="dbSNP:376297536"
variation 1419
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:121907892"
variation 1423
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200690486"
variation 1458
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200680754"
variation 1474
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:139316841"
exon 1476..1599
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/inference="alignment:Splign:1.39.8"
variation 1491
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:71581775"
variation 1506
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:140154051"
variation 1525
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="g"
/replace="t"
/db_xref="dbSNP:183246258"
variation 1539
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:121907894"
variation 1540
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:199992707"
variation 1570
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="g"
/replace="t"
/db_xref="dbSNP:367678216"
exon 1600..1715
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/inference="alignment:Splign:1.39.8"
variation 1618
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:150255373"
variation 1619
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:375040493"
variation 1648
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:138889743"
variation 1670
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:140376651"
variation 1677
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:370083633"
variation 1684
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:374858585"
variation 1706
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:371005496"
exon 1716..1930
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/inference="alignment:Splign:1.39.8"
variation 1720
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201322494"
variation 1727
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="g"
/replace="t"
/db_xref="dbSNP:121907897"
variation 1728
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:368451526"
variation 1745
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="t"
/db_xref="dbSNP:372794965"
variation 1780
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:372225207"
variation 1799
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:149438001"
variation 1807
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:146388519"
variation 1830
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:138457974"
variation 1854
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:142769893"
variation 1862
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:372595086"
variation 1868
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:146048999"
variation 1869
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201081275"
variation 1870
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:77159242"
variation 1876
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:370100606"
variation 1893
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1630320"
variation 1898
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="g"
/replace="t"
/db_xref="dbSNP:121907895"
variation 1899
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:142344676"
variation 1916
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:150779326"
variation 1917
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:183551522"
variation 1930
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:139140123"
exon 1931..2039
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/inference="alignment:Splign:1.39.8"
variation 1945
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:145200251"
variation 1946
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:147647315"
variation 1954
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:7932775"
variation 1974
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:61743169"
variation 1983
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:145454847"
variation 1994
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:201423508"
exon 2040..2243
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/inference="alignment:Splign:1.39.8"
variation 2040
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200515227"
variation 2045
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200104135"
variation 2046
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:368443880"
variation 2058
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:199607711"
variation 2072
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="c"
/db_xref="dbSNP:148862453"
variation 2073
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:146694365"
variation 2083
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200599563"
variation 2105
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:151308640"
variation 2121
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200072517"
variation 2136
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="c"
/db_xref="dbSNP:139224371"
variation 2154
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:140671173"
variation 2193
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:145764379"
variation 2217
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:138485972"
variation 2218
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:372091940"
variation 2220..2222
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace=""
/replace="cac"
/db_xref="dbSNP:368190173"
variation 2227
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="c"
/db_xref="dbSNP:375375872"
exon 2244..3109
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/inference="alignment:Splign:1.39.8"
variation 2251..2252
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace=""
/replace="agaaggcaacacatggca"
/replace="agaaggcacacatggta"
/db_xref="dbSNP:143874752"
variation 2257
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:199535450"
variation 2261
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:369797157"
variation 2271
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:143053863"
variation 2332
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:373528077"
variation 2337
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="c"
/db_xref="dbSNP:376221325"
STS 2340..2594
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/standard_name="REN55672"
/db_xref="UniSTS:380472"
variation 2353
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:71583717"
variation 2374
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:139851336"
variation 2377
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:141655625"
variation 2430
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="t"
/db_xref="dbSNP:375484950"
variation 2439
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="c"
/db_xref="dbSNP:370769782"
variation 2459
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:146221674"
variation 2472..2473
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace=""
/replace="tc"
/db_xref="dbSNP:139299506"
variation 2551..2552
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace=""
/replace="ccctg"
/db_xref="dbSNP:150284736"
variation 2555..2556
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace=""
/replace="gccct"
/db_xref="dbSNP:61157735"
STS 2567..2813
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/standard_name="REN55673"
/db_xref="UniSTS:380473"
variation 2575
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:148845071"
variation 2578
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:184983393"
variation 2594
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace=""
/replace="c"
/db_xref="dbSNP:200439262"
variation 2598
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace=""
/replace="c"
/db_xref="dbSNP:3832794"
variation 2598
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:201187954"
STS 2750..3010
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/standard_name="REN55674"
/db_xref="UniSTS:380474"
variation 2757
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:146963319"
variation 2824
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:476037"
STS 2923..3083
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/standard_name="RH98949"
/db_xref="UniSTS:90688"
variation 2954
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="g"
/replace="t"
/db_xref="dbSNP:200126462"
polyA_signal 3083..3088
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
polyA_site 3109
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
ORIGIN
ccacagcaggtgagtggaggcaggagccacgggtggggccaggccacacagcctgggaggcgcaggggctgggcagctgccagtgacccaagcccacacagagacttgcacagctgccccagccccaaattagggggatcccctggcccaccttctcttggctcagccactctgggaggtgggcacacaggggcaccgaagggagcaggcagccctggcatcccacagccgccaggagaaaaacttaggcctccccaagacctggcacagagcaggccggccctggcccccaagcagaggaggctgcacctccctcgcgtctgtgcctgcctcaacgcgggttaaactttgaccaaggaaatgattgctaaactcgattccataagtgtcaccggtcacactttaattccagtctaaaattaaagtcttcagtctccacattccctactttccaaattcagctttcccgggaggtctggagcagctgcctctctggggagatgctggaggtctcggaatcacctcacgcggcctcagggcccagttggagccaccccaagtgacaccagcaggcagatgaccagagagcctgagcctccggccccgagtctgtgaagcctagccgctgggctggagaagccactgtgggcaccaccgtgggggaaacaggcccgttgccctggcctctttgccctgggccagcctttgtgaagtgggcccctcttctgggccccttgagtaggttccatggcattttctgaactcctggacctcgtgggtggcctgggcaggttccaggttctccagacgatggctctgatggtctccatcatgtggctgtgtacccagagcatgctggagaacttctcggccgccgtgcccagccaccgctgctgggcacccctcctggacaacagcacggctcaggccagcatcctagggagcttgagtcctgaggccctcctggctatttccatcccgccgggccccaaccagaggccccaccagtgccgccgcttccgccagccacagtggcagctcttggaccccaatgccacggccaccagctggagcgaggccgacacggagccgtgtgtggatggctgggtctatgaccgcagcatcttcacctccacaatcgtggccaagtggaacctcgtgtgtgactctcatgctctgaagcccatggcccagtccatctacctggctgggattctggtgggagctgctgcgtgcggccctgcctcagacaggtttgggcgcaggctggtgctaacctggagctaccttcagatggctgtgatggtgatggagtggacggcggcacgggcccgacccttggtgatgaccttgaactctctgggcttcagcttcggccatggcctgacagctgcagtggcctacggtgtgcgggactggacactgctgcagctggtggtctcggtccccttcttcctctgctttttgtactcctggtggctggcagagtcggcacgatggctcctcaccacaggcaggctggattggggcctgcaggagctgtggagggtggctgccatcaacggaaagggggcagtgcaggacaccctgacccctgaggtcttgctttcagccatgcgggaggagctgagcatgggccagcctcctgccagcctgggcaccctgctccgcatgcccggactgcgcttccggacctgtatctccacgttgtgctggttcgcctttggcttcaccttcttcggcctggccctggacctgcaggccctgggcagcaacatcttcctgctccaaatgttcattggtgtcgtggacatcccagccaagatgggcgccctgctgctgctgagccacctgggccgccgccccacgctggccgcatccctgttgctggcagggctctgcattctggccaacacgctggtgccccacgaaatgggggctctgcgctcagccttggccgtgctggggctgggcggggtgggggctgccttcacctgcatcaccatctacagcagcgagctcttccccactgtgctcaggatgacggcagtgggcttgggccagatggcagcccgtggaggagccatcctggggcctctggtccggctgctgggtgtccatggcccctggctgcccttgctggtgtatgggacggtgccagtgctgagtggcctggccgcactgcttctgcccgagacccagagcttgccgctgcccgacaccatccaagatgtgcagaaccaggcagtaaagaaggcaacacatggcacgctggggaactctgtcctaaaatccacacagttttagcctcctggggaacctgcgatgggacggtcagaggaagagacttcttctgttctctggagaaggcaggaggaaagcaaagacctccatttccagaggcccagaggctgccctctgaggtccccactctcccccagggctgcccctccaggtgagccctgcccctctcacagtccaaggggcccccttcaatactgaaggggaaaaggacagtttgattggcaggaggtgacccagtgcaccatcaccctgccctgccctcgtggcttcggagagcagaggggtcaggcccaggggaacgagctggccttgccaaccctctgcttgactccgcactgccacttgtccccccacacccgtccacctgcccagagctcagagctaaccaccatccatggtcaagacctctcctagctccacacaagcagtagagtctcagctccacagctttacccagaagccctgtaagcctggcccctggcccctccccatgtccctccaggcctcagccacctgcccgccacatcctctgcctgctgtccccttcccaccctcatccctgaccgactccacttaacccccaaacccagccccccttccaggggtccagggccagcctgagatgcccgtgaaactcctacccacagttacagccacaagcctgcctcctcccaccctgccagcctatgagttcccagagggttggggcagtcccatgaccccatgtcccagctccccacacagcgctgggccagagaggcattggtgcgagggattgaataaagaaacaaatgaatggctgcccaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:116085 -> Molecular function: GO:0015143 [urate transmembrane transporter activity] evidence: IDA
GeneID:116085 -> Molecular function: GO:0030165 [PDZ domain binding] evidence: IPI
GeneID:116085 -> Biological process: GO:0015747 [urate transport] evidence: IDA
GeneID:116085 -> Biological process: GO:0019725 [cellular homeostasis] evidence: NAS
GeneID:116085 -> Biological process: GO:0042493 [response to drug] evidence: IDA
GeneID:116085 -> Biological process: GO:0046415 [urate metabolic process] evidence: IMP
GeneID:116085 -> Biological process: GO:0055085 [transmembrane transport] evidence: TAS
GeneID:116085 -> Cellular component: GO:0005886 [plasma membrane] evidence: IDA
GeneID:116085 -> Cellular component: GO:0005886 [plasma membrane] evidence: TAS
GeneID:116085 -> Cellular component: GO:0016021 [integral to membrane] evidence: IDA
GeneID:116085 -> Cellular component: GO:0016324 [apical plasma membrane] evidence: IDA
GeneID:116085 -> Cellular component: GO:0031526 [brush border membrane] evidence: ISS
GeneID:116085 -> Cellular component: GO:0031526 [brush border membrane] evidence: NAS
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