• Gene id: 116085

Gene Summary

• Gene Symbol: SLC22A12   Gene   UCSC   Ensembl
• Aliases: OAT4L, RST, URAT1
• Gene name: solute carrier family 22 member 12
• Alternate names: solute carrier family 22 member 12, organic anion transporter 4-like protein, renal-specific transporter, solute carrier family 22 (organic anion/cation transporter), member 12, solute carrier family 22 (organic anion/urate transporter), member 12, urate anion,
• Gene location: 11q13.1 (51105172: 50975260)     Exons: 14     NC_000014.9
• Gene summary(Entrez): 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 proxi
• OMIM: 607096

Protein Summary

• Protein general information: Q96S37  
  • Name: Solute carrier family 22 member 12 (Organic anion transporter 4 like protein) (Renal specific transporter) (RST) (Urate anion exchanger 1)
  • Length: 553  
  • Mass: 59630
  • Tissue specificity: Detected in kidney (at protein level). Detected in fetal and adult kidney. Detected in epithelial cells of proximal tubules in renal cortex. {ECO
• Sequence:

  MAFSELLDLVGGLGRFQVLQTMALMVSIMWLCTQSMLENFSAAVPSHRCWAPLLDNSTAQASILGSLSPEALLAI
  SIPPGPNQRPHQCRRFRQPQWQLLDPNATATSWSEADTEPCVDGWVYDRSIFTSTIVAKWNLVCDSHALKPMAQS
  IYLAGILVGAAACGPASDRFGRRLVLTWSYLQMAVMGTAAAFAPAFPVYCLFRFLLAFAVAGVMMNTGTLLMEWT
  AARARPLVMTLNSLGFSFGHGLTAAVAYGVRDWTLLQLVVSVPFFLCFLYSWWLAESARWLLTTGRLDWGLQELW
  RVAAINGKGAVQDTLTPEVLLSAMREELSMGQPPASLGTLLRMPGLRFRTCISTLCWFAFGFTFFGLALDLQALG
  SNIFLLQMFIGVVDIPAKMGALLLLSHLGRRPTLAASLLLAGLCILANTLVPHEMGALRSALAVLGLGGVGAAFT
  CITIYSSELFPTVLRMTAVGLGQMAARGGAILGPLVRLLGVHGPWLPLLVYGTVPVLSGLAALLLPETQSLPLPD
  TIQDVQNQAVKKATHGTLGNSVLKSTQF

• Structural information:
  • Interpro: IPR020846  IPR005828  IPR036259  
  • Prosite: PS50850
  • STRING: ENSP00000366797
• Other Databases: GeneCards:  SLC22A12  Malacards:  SLC22A12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015711	organic anion transport	IBA	biological process
GO:0022857	transmembrane transporter activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0015143	urate transmembrane transporter activity	TAS	molecular function
GO:0046415	urate metabolic process	IMP	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0042493	response to drug	IDA	biological process
GO:0015747	urate transport	IDA	biological process
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0016021	integral component of membrane	IDA	cellular component
GO:0015747	urate transport	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0015143	urate transmembrane transporter activity	IDA	molecular function
GO:0031526	brush border membrane	ISS	cellular component
GO:0030165	PDZ domain binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0031526	brush border membrane	NAS	cellular component
GO:0019725	cellular homeostasis	NAS	biological process

Diseases

Associated diseases	References
Renal hypouricemia	KEGG:H00948
Renal hypouricemia	KEGG:H00948
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq