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2024-04-17 03:26:24, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001276327 2902 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens solute carrier family 22 (organic anion/urate
transporter), member 12 (SLC22A12), transcript variant 4, mRNA.
ACCESSION NM_001276327
VERSION NM_001276327.1 GI:444299637
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 2902)
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 2902)
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 2902)
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 2902)
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 2902)
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 2902)
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 2902)
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 2902)
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 2902)
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 2902)
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, AY358183.1, 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 (4) lacks two alternate exons,
resulting in the loss of an in-frame segment in the central coding
region, compared to variant 1. The encoded isoform (d) 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 :: AY358183.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
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 AY358183.1 589-705
1173-1173 AP001092.5 35732-35732
1174-1670 AY358183.1 707-1203
1671-1671 AP001092.5 42783-42783
1672-1774 AY358183.1 1205-1307
1775-1775 AP001092.5 43363-43363
1776-2125 AY358183.1 1309-1658
2126-2878 BC053348.1 1993-2745
2879-2902 BX104022.1 228-251
FEATURES Location/Qualifiers
source 1..2902
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="11"
/map="11q13.1"
gene 1..2902
/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..2085
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/note="isoform d is encoded by transcript variant 4;
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 d"
/protein_id="NP_001263256.1"
/db_xref="GI:444299638"
/db_xref="GeneID:116085"
/db_xref="HGNC:17989"
/db_xref="MIM:607096"
/translation="
MAFSELLDLVGGLGRFQVLQTMALMVSIMWLCTQSMLENFSAAVPSHRCWAPLLDNSTAQASILGSLSPEALLAISIPPGPNQRPHQCRRFRQPQWQLLDPNATATSWSEADTEPCVDGWVYDRSIFTSTIVAKWNLVCDSHALKPMAQSIYLAGILVGAAACGPASDRWLAESARWLLTTGRLDWGLQELWRVAAINGKGAVQDTLTPEVLLSAMREELSMGQPPASLGTLLRMPGLRFRTCISTLCWFAFGFTFFGLALDLQALGSNIFLLQMFIGVVDIPAKMGALLLLSHLGRRPTLAASLLLAGLCILANTLVPHEMGALRSALAVLGLGGVGAAFTCITIYSSELFPTVLRMTAVGLGQMAARGGAILGPLVRLLGVHGPWLPLLVYGTVPVLSGLAALLLPETQSLPLPDTIQDVQNQAVKKATHGTLGNSVLKSTQF
"
misc_feature 772..834
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q96S37.1);
transmembrane region"
misc_feature 1183..1245
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q96S37.1);
transmembrane region"
misc_feature <1549..1971
/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..1377
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/inference="alignment:Splign:1.39.8"
variation 1269
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:71581775"
variation 1284
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:140154051"
variation 1303
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="g"
/replace="t"
/db_xref="dbSNP:183246258"
variation 1317
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:121907894"
variation 1318
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:199992707"
variation 1348
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="g"
/replace="t"
/db_xref="dbSNP:367678216"
exon 1378..1493
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/inference="alignment:Splign:1.39.8"
variation 1396
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:150255373"
variation 1397
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:375040493"
variation 1426
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:138889743"
variation 1448
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:140376651"
variation 1455
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:370083633"
variation 1462
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:374858585"
variation 1484
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:371005496"
exon 1494..1708
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/inference="alignment:Splign:1.39.8"
variation 1498
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201322494"
variation 1505
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="g"
/replace="t"
/db_xref="dbSNP:121907897"
variation 1506
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:368451526"
variation 1523
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="t"
/db_xref="dbSNP:372794965"
variation 1558
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:372225207"
variation 1577
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:149438001"
variation 1585
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:146388519"
variation 1608
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:138457974"
variation 1632
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:142769893"
variation 1640
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:372595086"
variation 1646
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:146048999"
variation 1647
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201081275"
variation 1648
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:77159242"
variation 1654
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:370100606"
variation 1671
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1630320"
variation 1676
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="g"
/replace="t"
/db_xref="dbSNP:121907895"
variation 1677
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:142344676"
variation 1694
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:150779326"
variation 1695
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:183551522"
variation 1708
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:139140123"
exon 1709..1817
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/inference="alignment:Splign:1.39.8"
variation 1723
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:145200251"
variation 1724
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:147647315"
variation 1732
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:7932775"
variation 1752
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:61743169"
variation 1761
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:145454847"
variation 1772
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:201423508"
exon 1818..2021
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/inference="alignment:Splign:1.39.8"
variation 1818
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200515227"
variation 1823
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200104135"
variation 1824
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:368443880"
variation 1836
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:199607711"
variation 1850
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="c"
/db_xref="dbSNP:148862453"
variation 1851
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:146694365"
variation 1861
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200599563"
variation 1883
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:151308640"
variation 1899
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200072517"
variation 1914
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="c"
/db_xref="dbSNP:139224371"
variation 1932
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:140671173"
variation 1971
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:145764379"
variation 1995
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:138485972"
variation 1996
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:372091940"
variation 1998..2000
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace=""
/replace="cac"
/db_xref="dbSNP:368190173"
variation 2005
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="c"
/db_xref="dbSNP:375375872"
exon 2022..2887
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/inference="alignment:Splign:1.39.8"
variation 2029..2030
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace=""
/replace="agaaggcaacacatggca"
/replace="agaaggcacacatggta"
/db_xref="dbSNP:143874752"
variation 2035
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:199535450"
variation 2039
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:369797157"
variation 2049
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:143053863"
variation 2110
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:373528077"
variation 2115
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="c"
/db_xref="dbSNP:376221325"
STS 2118..2372
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/standard_name="REN55672"
/db_xref="UniSTS:380472"
variation 2131
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:71583717"
variation 2152
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:139851336"
variation 2155
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:141655625"
variation 2208
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="t"
/db_xref="dbSNP:375484950"
variation 2217
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="c"
/db_xref="dbSNP:370769782"
variation 2237
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:146221674"
variation 2250..2251
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace=""
/replace="tc"
/db_xref="dbSNP:139299506"
variation 2329..2330
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace=""
/replace="ccctg"
/db_xref="dbSNP:150284736"
variation 2333..2334
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace=""
/replace="gccct"
/db_xref="dbSNP:61157735"
STS 2345..2591
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/standard_name="REN55673"
/db_xref="UniSTS:380473"
variation 2353
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:148845071"
variation 2356
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="a"
/replace="g"
/db_xref="dbSNP:184983393"
variation 2372
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace=""
/replace="c"
/db_xref="dbSNP:200439262"
variation 2376
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace=""
/replace="c"
/db_xref="dbSNP:3832794"
variation 2376
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:201187954"
STS 2528..2788
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/standard_name="REN55674"
/db_xref="UniSTS:380474"
variation 2535
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:146963319"
variation 2602
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="c"
/replace="t"
/db_xref="dbSNP:476037"
STS 2701..2861
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/standard_name="RH98949"
/db_xref="UniSTS:90688"
variation 2732
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
/replace="g"
/replace="t"
/db_xref="dbSNP:200126462"
polyA_signal 2861..2866
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
polyA_site 2887
/gene="SLC22A12"
/gene_synonym="OAT4L; RST; URAT1"
ORIGIN
ccacagcaggtgagtggaggcaggagccacgggtggggccaggccacacagcctgggaggcgcaggggctgggcagctgccagtgacccaagcccacacagagacttgcacagctgccccagccccaaattagggggatcccctggcccaccttctcttggctcagccactctgggaggtgggcacacaggggcaccgaagggagcaggcagccctggcatcccacagccgccaggagaaaaacttaggcctccccaagacctggcacagagcaggccggccctggcccccaagcagaggaggctgcacctccctcgcgtctgtgcctgcctcaacgcgggttaaactttgaccaaggaaatgattgctaaactcgattccataagtgtcaccggtcacactttaattccagtctaaaattaaagtcttcagtctccacattccctactttccaaattcagctttcccgggaggtctggagcagctgcctctctggggagatgctggaggtctcggaatcacctcacgcggcctcagggcccagttggagccaccccaagtgacaccagcaggcagatgaccagagagcctgagcctccggccccgagtctgtgaagcctagccgctgggctggagaagccactgtgggcaccaccgtgggggaaacaggcccgttgccctggcctctttgccctgggccagcctttgtgaagtgggcccctcttctgggccccttgagtaggttccatggcattttctgaactcctggacctcgtgggtggcctgggcaggttccaggttctccagacgatggctctgatggtctccatcatgtggctgtgtacccagagcatgctggagaacttctcggccgccgtgcccagccaccgctgctgggcacccctcctggacaacagcacggctcaggccagcatcctagggagcttgagtcctgaggccctcctggctatttccatcccgccgggccccaaccagaggccccaccagtgccgccgcttccgccagccacagtggcagctcttggaccccaatgccacggccaccagctggagcgaggccgacacggagccgtgtgtggatggctgggtctatgaccgcagcatcttcacctccacaatcgtggccaagtggaacctcgtgtgtgactctcatgctctgaagcccatggcccagtccatctacctggctgggattctggtgggagctgctgcgtgcggccctgcctcagacaggtggctggcagagtcggcacgatggctcctcaccacaggcaggctggattggggcctgcaggagctgtggagggtggctgccatcaacggaaagggggcagtgcaggacaccctgacccctgaggtcttgctttcagccatgcgggaggagctgagcatgggccagcctcctgccagcctgggcaccctgctccgcatgcccggactgcgcttccggacctgtatctccacgttgtgctggttcgcctttggcttcaccttcttcggcctggccctggacctgcaggccctgggcagcaacatcttcctgctccaaatgttcattggtgtcgtggacatcccagccaagatgggcgccctgctgctgctgagccacctgggccgccgccccacgctggccgcatccctgttgctggcagggctctgcattctggccaacacgctggtgccccacgaaatgggggctctgcgctcagccttggccgtgctggggctgggcggggtgggggctgccttcacctgcatcaccatctacagcagcgagctcttccccactgtgctcaggatgacggcagtgggcttgggccagatggcagcccgtggaggagccatcctggggcctctggtccggctgctgggtgtccatggcccctggctgcccttgctggtgtatgggacggtgccagtgctgagtggcctggccgcactgcttctgcccgagacccagagcttgccgctgcccgacaccatccaagatgtgcagaaccaggcagtaaagaaggcaacacatggcacgctggggaactctgtcctaaaatccacacagttttagcctcctggggaacctgcgatgggacggtcagaggaagagacttcttctgttctctggagaaggcaggaggaaagcaaagacctccatttccagaggcccagaggctgccctctgaggtccccactctcccccagggctgcccctccaggtgagccctgcccctctcacagtccaaggggcccccttcaatactgaaggggaaaaggacagtttgattggcaggaggtgacccagtgcaccatcaccctgccctgccctcgtggcttcggagagcagaggggtcaggcccaggggaacgagctggccttgccaaccctctgcttgactccgcactgccacttgtccccccacacccgtccacctgcccagagctcagagctaaccaccatccatggtcaagacctctcctagctccacacaagcagtagagtctcagctccacagctttacccagaagccctgtaagcctggcccctggcccctccccatgtccctccaggcctcagccacctgcccgccacatcctctgcctgctgtccccttcccaccctcatccctgaccgactccacttaacccccaaacccagccccccttccaggggtccagggccagcctgagatgcccgtgaaactcctacccacagttacagccacaagcctgcctcctcccaccctgccagcctatgagttcccagagggttggggcagtcccatgaccccatgtcccagctccccacacagcgctgggccagagaggcattggtgcgagggattgaataaagaaacaaatgaatggctgcccaaaaaaaaaaaaaaa
//
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
by
@meso_cacase at
DBCLS
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