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Q96S37

- S22AC_HUMAN

UniProt

Q96S37 - S22AC_HUMAN

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Protein

Solute carrier family 22 member 12

Gene

SLC22A12

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Required for efficient urate re-absorption in the kidney. Regulates blood urate levels. Mediates saturable urate uptake by facilitating the exchange of urate against organic anions.1 Publication

GO - Molecular functioni

  1. PDZ domain binding Source: UniProtKB
  2. urate transmembrane transporter activity Source: UniProtKB

GO - Biological processi

  1. cellular homeostasis Source: UniProtKB
  2. response to drug Source: UniProtKB
  3. transmembrane transport Source: Reactome
  4. urate metabolic process Source: BHF-UCL
  5. urate transport Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Ion transport, Transport

Enzyme and pathway databases

ReactomeiREACT_22310. Organic anion transport.

Protein family/group databases

TCDBi2.A.1.19.11. the major facilitator superfamily (mfs).

Names & Taxonomyi

Protein namesi
Recommended name:
Solute carrier family 22 member 12
Alternative name(s):
Organic anion transporter 4-like protein
Renal-specific transporter
Short name:
RST
Urate anion exchanger 1
Gene namesi
Name:SLC22A12
Synonyms:OATL4, URAT1
ORF Names:UNQ6453/PRO34004
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:17989. SLC22A12.

Subcellular locationi

Cell membrane 1 Publication; Multi-pass membrane protein 1 Publication
Note: Detected in the luminal membrane of the epithelium of renal proximal tubules.

GO - Cellular componenti

  1. apical plasma membrane Source: UniProtKB
  2. brush border membrane Source: UniProtKB
  3. extracellular vesicular exosome Source: UniProt
  4. integral component of membrane Source: UniProtKB
  5. plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Hypouricemia renal 1 (RHUC1) [MIM:220150]: A disorder characterized by impaired uric acid reabsorption at the apical membrane of proximal renal tubule cells, and high urinary urate excretion. Patients often appear asymptomatic, but may be subject to exercise-induced acute renal failure, chronic renal dysfunction and nephrolithiasis.6 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti90 – 901R → H in RHUC1; strongly reduced urate transport. 3 Publications
VAR_036721
Natural varianti138 – 1381V → M in RHUC1; strongly reduced urate transport. 1 Publication
VAR_036723
Natural varianti164 – 1641G → S in RHUC1; reduced urate transport. 1 Publication
VAR_036724
Natural varianti217 – 2171T → M in RHUC1; strongly reduced urate transport. 2 Publications
VAR_036725
Natural varianti298 – 2981E → D in RHUC1; strongly reduced urate transport. 2 Publications
VAR_036730
Natural varianti382 – 3821Q → L in RHUC1; strongly reduced urate transport. 2 Publications
VAR_036734
Natural varianti418 – 4181L → R in RHUC1; strongly reduced urate transport. 1 Publication
VAR_036735
Natural varianti430 – 4301M → T in RHUC1; reduced urate transport. 1 Publication
VAR_036736
Natural varianti477 – 4771R → H in RHUC1. 2 Publications
VAR_036737

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi220150. phenotype.
Orphaneti94088. Hereditary renal hypouricemia.
PharmGKBiPA38478.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 553553Solute carrier family 22 member 12PRO_0000307944Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi56 – 561N-linked (GlcNAc...)Sequence Analysis
Glycosylationi102 – 1021N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ96S37.
PRIDEiQ96S37.

PTM databases

PhosphoSiteiQ96S37.

Expressioni

Tissue specificityi

Detected in kidney (at protein level). Detected in fetal and adult kidney. Detected in epithelial cells of proximal tubules in renal cortex.2 Publications

Gene expression databases

BgeeiQ96S37.
CleanExiHS_SLC22A12.
GenevestigatoriQ96S37.

Organism-specific databases

HPAiHPA024575.

Interactioni

Subunit structurei

Interacts with PDZK1.2 Publications

Protein-protein interaction databases

BioGridi125471. 1 interaction.
STRINGi9606.ENSP00000366797.

Structurei

3D structure databases

ProteinModelPortaliQ96S37.
SMRiQ96S37. Positions 150-287.
ModBaseiSearch...
MobiDBiSearch...

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei9 – 2921HelicalSequence AnalysisAdd
BLAST
Transmembranei146 – 16621HelicalSequence AnalysisAdd
BLAST
Transmembranei174 – 19421HelicalSequence AnalysisAdd
BLAST
Transmembranei195 – 21521HelicalSequence AnalysisAdd
BLAST
Transmembranei232 – 25221HelicalSequence AnalysisAdd
BLAST
Transmembranei260 – 28021HelicalSequence AnalysisAdd
BLAST
Transmembranei351 – 37121HelicalSequence AnalysisAdd
BLAST
Transmembranei378 – 39821HelicalSequence AnalysisAdd
BLAST
Transmembranei407 – 42721HelicalSequence AnalysisAdd
BLAST
Transmembranei435 – 45521HelicalSequence AnalysisAdd
BLAST
Transmembranei466 – 48621HelicalSequence AnalysisAdd
BLAST
Transmembranei495 – 51521HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG238692.
GeneTreeiENSGT00760000118852.
HOVERGENiHBG108433.
InParanoidiQ96S37.
KOiK08208.
OMAiPIMWLTT.
OrthoDBiEOG7NW68T.
PhylomeDBiQ96S37.
TreeFamiTF315847.

Family and domain databases

InterProiIPR011701. MFS.
IPR020846. MFS_dom.
IPR016196. MFS_dom_general_subst_transpt.
[Graphical view]
PfamiPF07690. MFS_1. 1 hit.
[Graphical view]
SUPFAMiSSF103473. SSF103473. 1 hit.
PROSITEiPS50850. MFS. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q96S37-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAFSELLDLV GGLGRFQVLQ TMALMVSIMW LCTQSMLENF SAAVPSHRCW
60 70 80 90 100
APLLDNSTAQ ASILGSLSPE ALLAISIPPG PNQRPHQCRR FRQPQWQLLD
110 120 130 140 150
PNATATSWSE ADTEPCVDGW VYDRSIFTST IVAKWNLVCD SHALKPMAQS
160 170 180 190 200
IYLAGILVGA AACGPASDRF GRRLVLTWSY LQMAVMGTAA AFAPAFPVYC
210 220 230 240 250
LFRFLLAFAV AGVMMNTGTL LMEWTAARAR PLVMTLNSLG FSFGHGLTAA
260 270 280 290 300
VAYGVRDWTL LQLVVSVPFF LCFLYSWWLA ESARWLLTTG RLDWGLQELW
310 320 330 340 350
RVAAINGKGA VQDTLTPEVL LSAMREELSM GQPPASLGTL LRMPGLRFRT
360 370 380 390 400
CISTLCWFAF GFTFFGLALD LQALGSNIFL LQMFIGVVDI PAKMGALLLL
410 420 430 440 450
SHLGRRPTLA ASLLLAGLCI LANTLVPHEM GALRSALAVL GLGGVGAAFT
460 470 480 490 500
CITIYSSELF PTVLRMTAVG LGQMAARGGA ILGPLVRLLG VHGPWLPLLV
510 520 530 540 550
YGTVPVLSGL AALLLPETQS LPLPDTIQDV QNQAVKKATH GTLGNSVLKS

TQF
Length:553
Mass (Da):59,630
Last modified:December 1, 2001 - v1
Checksum:iE3F29F38129BAD61
GO
Isoform 2 (identifier: Q96S37-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     170-277: Missing.

Show »
Length:445
Mass (Da):47,648
Checksum:i5385EA4A75ABD7C4
GO
Isoform 3 (identifier: Q96S37-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-221: Missing.

Show »
Length:332
Mass (Da):35,570
Checksum:i0080739C739B384B
GO
Isoform 4 (identifier: Q96S37-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     187-221: GTAAAFAPAFPVYCLFRFLLAFAVAGVMMNTGTLL → V

Show »
Length:519
Mass (Da):56,094
Checksum:iA29300D5DC37247A
GO

Sequence cautioni

The sequence BAB68364.1 differs from that shown. Reason: Frameshift at positions 84 and 136.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti451 – 4511C → Y in AAQ88550. (PubMed:12975309)Curated
Sequence conflicti538 – 5381A → T in AK315061. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti65 – 651G → W.
Corresponds to variant rs12800450 [ dbSNP | Ensembl ].
VAR_036720
Natural varianti90 – 901R → H in RHUC1; strongly reduced urate transport. 3 Publications
VAR_036721
Natural varianti92 – 921R → C.1 Publication
VAR_036722
Natural varianti138 – 1381V → M in RHUC1; strongly reduced urate transport. 1 Publication
VAR_036723
Natural varianti164 – 1641G → S in RHUC1; reduced urate transport. 1 Publication
VAR_036724
Natural varianti217 – 2171T → M in RHUC1; strongly reduced urate transport. 2 Publications
VAR_036725
Natural varianti226 – 2261A → V.1 Publication
Corresponds to variant rs145738825 [ dbSNP | Ensembl ].
VAR_036726
Natural varianti284 – 2841R → G in some gout patients; uncertain pathological significance. 1 Publication
VAR_036727
Natural varianti290 – 2901G → C in some gout patients; uncertain pathological significance. 1 Publication
VAR_036728
Natural varianti297 – 2971Q → E in some gout patients; uncertain pathological significance. 1 Publication
VAR_036729
Natural varianti298 – 2981E → D in RHUC1; strongly reduced urate transport. 2 Publications
VAR_036730
Natural varianti305 – 3051I → S in some gout patients; uncertain pathological significance. 1 Publication
VAR_036731
Natural varianti312 – 3121Q → L.1 Publication
VAR_036732
Natural varianti313 – 33321Missing Affects urate transport. 1 Publication
VAR_036733Add
BLAST
Natural varianti382 – 3821Q → L in RHUC1; strongly reduced urate transport. 2 Publications
VAR_036734
Natural varianti418 – 4181L → R in RHUC1; strongly reduced urate transport. 1 Publication
VAR_036735
Natural varianti430 – 4301M → T in RHUC1; reduced urate transport. 1 Publication
VAR_036736
Natural varianti477 – 4771R → H in RHUC1. 2 Publications
VAR_036737

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 221221Missing in isoform 3. CuratedVSP_054054Add
BLAST
Alternative sequencei170 – 277108Missing in isoform 2. 1 PublicationVSP_028879Add
BLAST
Alternative sequencei187 – 22135GTAAA…TGTLL → V in isoform 4. 1 PublicationVSP_054055Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB071863 mRNA. Translation: BAB96750.1.
AC044790 Genomic DNA. Translation: AAK68156.1.
AY358183 mRNA. Translation: AAQ88550.1.
AB050269 mRNA. Translation: BAB68364.1. Frameshift.
AK315061 mRNA. No translation available.
AP001092 Genomic DNA. No translation available.
CH471076 Genomic DNA. Translation: EAW74273.1.
CH471076 Genomic DNA. Translation: EAW74274.1.
BC053348 mRNA. Translation: AAH53348.1.
DQ514593 Genomic DNA. Translation: ABF74570.1.
DQ514594 Genomic DNA. Translation: ABF74571.1.
DQ514595 Genomic DNA. Translation: ABF74572.1.
DQ514596 Genomic DNA. Translation: ABF74573.1.
CCDSiCCDS60835.1. [Q96S37-4]
CCDS60836.1. [Q96S37-2]
CCDS8075.1. [Q96S37-1]
RefSeqiNP_001263255.1. NM_001276326.1. [Q96S37-4]
NP_001263256.1. NM_001276327.1. [Q96S37-2]
NP_653186.2. NM_144585.3. [Q96S37-1]
NP_700357.1. NM_153378.2. [Q96S37-3]
UniGeneiHs.174424.
Hs.700182.

Genome annotation databases

EnsembliENST00000336464; ENSP00000336836; ENSG00000197891. [Q96S37-4]
ENST00000377567; ENSP00000366790; ENSG00000197891. [Q96S37-2]
ENST00000377572; ENSP00000366795; ENSG00000197891. [Q96S37-2]
ENST00000377574; ENSP00000366797; ENSG00000197891. [Q96S37-1]
ENST00000473690; ENSP00000438437; ENSG00000197891. [Q96S37-3]
GeneIDi116085.
KEGGihsa:116085.
UCSCiuc001oal.2. human. [Q96S37-1]
uc001oan.2. human. [Q96S37-2]

Polymorphism databases

DMDMi74732700.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB071863 mRNA. Translation: BAB96750.1 .
AC044790 Genomic DNA. Translation: AAK68156.1 .
AY358183 mRNA. Translation: AAQ88550.1 .
AB050269 mRNA. Translation: BAB68364.1 . Frameshift.
AK315061 mRNA. No translation available.
AP001092 Genomic DNA. No translation available.
CH471076 Genomic DNA. Translation: EAW74273.1 .
CH471076 Genomic DNA. Translation: EAW74274.1 .
BC053348 mRNA. Translation: AAH53348.1 .
DQ514593 Genomic DNA. Translation: ABF74570.1 .
DQ514594 Genomic DNA. Translation: ABF74571.1 .
DQ514595 Genomic DNA. Translation: ABF74572.1 .
DQ514596 Genomic DNA. Translation: ABF74573.1 .
CCDSi CCDS60835.1. [Q96S37-4 ]
CCDS60836.1. [Q96S37-2 ]
CCDS8075.1. [Q96S37-1 ]
RefSeqi NP_001263255.1. NM_001276326.1. [Q96S37-4 ]
NP_001263256.1. NM_001276327.1. [Q96S37-2 ]
NP_653186.2. NM_144585.3. [Q96S37-1 ]
NP_700357.1. NM_153378.2. [Q96S37-3 ]
UniGenei Hs.174424.
Hs.700182.

3D structure databases

ProteinModelPortali Q96S37.
SMRi Q96S37. Positions 150-287.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 125471. 1 interaction.
STRINGi 9606.ENSP00000366797.

Chemistry

BindingDBi Q96S37.
ChEMBLi CHEMBL6120.
DrugBanki DB00678. Losartan.
DB01032. Probenecid.
GuidetoPHARMACOLOGYi 1031.

Protein family/group databases

TCDBi 2.A.1.19.11. the major facilitator superfamily (mfs).

PTM databases

PhosphoSitei Q96S37.

Polymorphism databases

DMDMi 74732700.

Proteomic databases

PaxDbi Q96S37.
PRIDEi Q96S37.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000336464 ; ENSP00000336836 ; ENSG00000197891 . [Q96S37-4 ]
ENST00000377567 ; ENSP00000366790 ; ENSG00000197891 . [Q96S37-2 ]
ENST00000377572 ; ENSP00000366795 ; ENSG00000197891 . [Q96S37-2 ]
ENST00000377574 ; ENSP00000366797 ; ENSG00000197891 . [Q96S37-1 ]
ENST00000473690 ; ENSP00000438437 ; ENSG00000197891 . [Q96S37-3 ]
GeneIDi 116085.
KEGGi hsa:116085.
UCSCi uc001oal.2. human. [Q96S37-1 ]
uc001oan.2. human. [Q96S37-2 ]

Organism-specific databases

CTDi 116085.
GeneCardsi GC11P064359.
HGNCi HGNC:17989. SLC22A12.
HPAi HPA024575.
MIMi 220150. phenotype.
607096. gene.
neXtProti NX_Q96S37.
Orphaneti 94088. Hereditary renal hypouricemia.
PharmGKBi PA38478.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG238692.
GeneTreei ENSGT00760000118852.
HOVERGENi HBG108433.
InParanoidi Q96S37.
KOi K08208.
OMAi PIMWLTT.
OrthoDBi EOG7NW68T.
PhylomeDBi Q96S37.
TreeFami TF315847.

Enzyme and pathway databases

Reactomei REACT_22310. Organic anion transport.

Miscellaneous databases

ChiTaRSi SLC22A12. human.
GeneWikii SLC22A12.
GenomeRNAii 116085.
NextBioi 79751.
PROi Q96S37.
SOURCEi Search...

Gene expression databases

Bgeei Q96S37.
CleanExi HS_SLC22A12.
Genevestigatori Q96S37.

Family and domain databases

InterProi IPR011701. MFS.
IPR020846. MFS_dom.
IPR016196. MFS_dom_general_subst_transpt.
[Graphical view ]
Pfami PF07690. MFS_1. 1 hit.
[Graphical view ]
SUPFAMi SSF103473. SSF103473. 1 hit.
PROSITEi PS50850. MFS. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, VARIANTS RHUC1 MET-217 AND ASP-298, CHARACTERIZATION OF VARIANTS RHUC1 MET-217 AND ASP-298.
    Tissue: Kidney.
  2. "Sequencing of human RST gene."
    Rowen L., Madan A., Qin S., Baradarani L., Birditt B., Bloom S., Burke J., Dors M., Fleetwood P., Kaur A., Madan A., Nesbitt R., Pate D., Hood L.
    Submitted (JUN-2001) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
  4. "Human organic anion transporter 4 similar gene."
    Koyama K.
    Submitted (OCT-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Kidney.
  5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Colon.
  9. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 278-318, VARIANT RHUC1 ASP-298, VARIANTS GLY-284; CYS-290; GLU-297 AND SER-305.
  10. Cited for: INTERACTION WITH PDZK1.
  11. "The multivalent PDZ domain-containing protein PDZK1 regulates transport activity of renal urate-anion exchanger URAT1 via its C terminus."
    Anzai N., Miyazaki H., Noshiro R., Khamdang S., Chairoungdua A., Shin H.J., Enomoto A., Sakamoto S., Hirata T., Tomita K., Kanai Y., Endou H.
    J. Biol. Chem. 279:45942-45950(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH PDZK1, TISSUE SPECIFICITY.
  12. "Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion."
    Ichida K., Hosoyamada M., Hisatome I., Enomoto A., Hikita M., Endou H., Hosoya T.
    J. Am. Soc. Nephrol. 15:164-173(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS RHUC1 HIS-90; MET-138; SER-164; MET-217; LEU-382 AND THR-430, CHARACTERIZATION OF VARIANTS RHUC1 HIS-90; MET-138; SER-164; MET-217; LEU-382 AND THR-430.
  13. "A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese."
    Iwai N., Mino Y., Hosoyamada M., Tago N., Kokubo Y., Endou H.
    Kidney Int. 66:935-944(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS RHUC1 HIS-90 AND HIS-477, VARIANTS VAL-226; LEU-312 AND 313-ASP--PRO-333 DEL, CHARACTERIZATION OF VARIANT 313-ASP--PRO-333 DEL.
  14. Cited for: VARIANTS RHUC1 LEU-382 AND ARG-418, CHARACTERIZATION OF VARIANTS RHUC1 LEU-382 AND ARG-418.
  15. Cited for: VARIANTS RHUC1 HIS-90 AND HIS-477.
  16. "Association of the human urate transporter 1 with reduced renal uric acid excretion and hyperuricemia in a German Caucasian population."
    Graessler J., Graessler A., Unger S., Kopprasch S., Tausche A.-K., Kuhlisch E., Schroeder H.-E.
    Arthritis Rheum. 54:292-300(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CYS-92.

Entry informationi

Entry nameiS22AC_HUMAN
AccessioniPrimary (citable) accession number: Q96S37
Secondary accession number(s): B7WPG1
, G3XAN7, Q19PF7, Q19PF8, Q19PF9, Q19PG0, Q6UXW3, Q96DT2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: December 1, 2001
Last modified: October 29, 2014
This is version 107 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3