• Gene id: 6563

Gene Summary

• Gene Symbol: SLC14A1   Gene   UCSC   Ensembl
• Aliases: HUT11, HsT1341, JK, Jk(b), RACH1, RACH2, UT-B1, UT1, UTE
• Gene name: solute carrier family 14 member 1 (Kidd blood group)
• Alternate names: urea transporter 1, Kidd blood group, Kidd blood group antigen, SLC14A1 JK, solute carrier family 14 (urea transporter), member 1 (Kidd blood group), urea transporter JK glycoprotein, urea transporter, erythrocyte, urea transporter-B1,
• Gene location: 18q12.3 (45724126: 45752519)     Exons: 13     NC_000018.10
• Gene summary(Entrez): The protein encoded by this gene is a membrane transporter that mediates urea transport in erythrocytes. This gene forms the basis for the Kidd blood group system. [provided by RefSeq, Mar 2009]
• OMIM: 613868

Protein Summary

• Protein general information: Q13336  
  • Name: Urea transporter 1 (Solute carrier family 14 member 1) (Urea transporter, erythrocyte)
  • Length: 389  
  • Mass: 42528
  • Tissue specificity: Detected in erythrocytes (at protein level). Erythrocytes. {ECO
• Sequence:

  MEDSPTMVRVDSPTMVRGENQVSPCQGRRCFPKALGYVTGDMKELANQLKDKPVVLQFIDWILRGISQVVFVNNP
  VSGILILVGLLVQNPWWALTGWLGTVVSTLMALLLSQDRSLIASGLYGYNATLVGVLMAVFSDKGDYFWWLLLPV
  CAMSMTCPIFSSALNSMLSKWDLPVFTLPFNMALSMYLSATGHYNPFFPAKLVIPITTAPNISWSDLSALELLKS
  IPVGVGQIYGCDNPWTGGIFLGAILLSSPLMCLHAAIGSLLGIAAGLSLSAPFEDIYFGLWGFNSSLACIAMGGM
  FMALTWQTHLLALGCALFTAYLGVGMANFMAEVGLPACTWPFCLATLLFLIMTTKNSNIYKMPLSKVTYPEENRI
  FYLQAKKRMVESPL

• Structural information:
  • Interpro: IPR029020  IPR004937  
  • PDB: 6QD5
  • PDBsum: 6QD5
  • DIP: 60049
  • STRING: ENSP00000390637
• Other Databases: GeneCards:  SLC14A1  Malacards:  SLC14A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015840	urea transport	IBA	biological process
GO:0071918	urea transmembrane transport	IBA	biological process
GO:0015265	urea channel activity	IDA	molecular function
GO:0071918	urea transmembrane transport	IDA	biological process
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0015204	urea transmembrane transporter activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0071918	urea transmembrane transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0015840	urea transport	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0055085	transmembrane transport	TAS	biological process
GO:0015840	urea transport	IEA	biological process
GO:0015204	urea transmembrane transporter activity	IEA	molecular function
GO:0006833	water transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005372	water transmembrane transporter activity	IEA	molecular function
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R