• Gene id: 6248

Gene Summary

• Gene Symbol: RSC1A1   Gene   UCSC   Ensembl
• Aliases: RS1
• Gene name: regulator of solute carriers 1
• Alternate names: regulatory solute carrier protein family 1 member 1, regulatory solute carrier protein, family 1, member 1, transporter regulator RS1,
• Gene location: 1p36.21 (15659712: 15662029)     Exons: 1     NC_000001.11
• Gene summary(Entrez): The protein encoded by this intronless gene inhibits the expression of the solute carrier family 5 (sodium/glucose cotransporter), member 1 gene (SLC5A1) and downregulates exocytosis of the SLC5A1 protein. The encoded protein is sometimes found coating th
• OMIM: 610207

Protein Summary

• Protein general information: Q92681  
  • Name: Regulatory solute carrier protein family 1 member 1 (Transporter regulator RS1) (hRS1)
  • Length: 617  
  • Mass: 66790
  • Tissue specificity: Expressed in small intestine, kidney and brain. {ECO
• Sequence:

  MSSLPTSDGFNHPARSSGQSPDVGNPMSLARSVSASVCPIKPSDSDRIEPKAVKALKASAEFQLNSEKKEHLSLQ
  DLSDHASSADHAPTDQSPAMPMQNSSEEITVAGNLEKSAERSTQGLKFHLHTRQEASLSVTSTRMHEPQMFLGEK
  DWHPENQNLSQVSDPQQHEEPGNEQYEVAQQKASHDQEYLCNIGDLELPEERQQNQHKIVDLEATMKGNGLPQNV
  DPPSAKKSIPSSECSGCSNSETFMEIDTAQQSLVTLLNSTGRQNANVKNIGALDLTLDNPLMEVETSKCNPSSEI
  LNDSISTQDLQPPETNVEIPGTNKEYGHYSSPSLCGSCQPSVESAEESCPSITAALKELHELLVVSSKPASENTS
  EEVICQSETIAEGQTSIKDLSERWTQNEHLTQNEQCPQVSFHQAISVSVETEKLTGTSSDTGREAVENVNFRSLG
  DGLSTDKEGVPKSRESINKNRSVTVTSAKTSNQLHCTLGVEISPKLLAGEEDALNQTSEQTKSLSSNFILVKDLG
  QGIQNSVTDRPETRENVCPDASRPLLEYEPPTSHPSSSPAILPPLIFPATDIDRILRAGFTLQEALGALHRVGGN
  ADLALLVLLAKNIVVPT

• Structural information:
  • Protein Domains: (571..61-)
    (/note="UBA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00212"-)
  • Interpro: IPR039222  IPR015940  
  • Prosite: PS50030
  • STRING: ENSP00000341963
• Other Databases: GeneCards:  RSC1A1  Malacards:  RSC1A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042997	negative regulation of Golgi to plasma membrane protein transport	IDA	biological process
GO:1903077	negative regulation of protein localization to plasma membrane	ISS	biological process
GO:0032243	negative regulation of nucleoside transport	IDA	biological process
GO:0032243	negative regulation of nucleoside transport	ISS	biological process
GO:0051051	negative regulation of transport	IBA	biological process
GO:0045920	negative regulation of exocytosis	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0010829	negative regulation of glucose transmembrane transport	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0051051	negative regulation of transport	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0019871	sodium channel inhibitor activity	IDA	molecular function
GO:0010829	negative regulation of glucose transmembrane transport	IDA	biological process

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R