• Gene id: 340024

Gene Summary

• Gene Symbol: SLC6A19   Gene   UCSC   Ensembl
• Aliases: B0AT1, HND
• Gene name: solute carrier family 6 member 19
• Alternate names: sodium-dependent neutral amino acid transporter B(0)AT1, sodium-dependent amino acid transporter system B0, solute carrier family 6 (neurotransmitter transporter), member 19, solute carrier family 6 (neutral amino acid transporter), member 19, system B(0) neu,
• Gene location: 5p15.33 (1201594: 1225110)     Exons: 12     NC_000005.10
• Gene summary(Entrez): This gene encodes a system B(0) transmembrane protein that actively transports most neutral amino acids across the apical membrane of epithelial cells. Mutations in this gene result in Hartnup disorder. [provided by RefSeq, Jul 2008]
• OMIM: 610009

Protein Summary

• Protein general information: Q695T7  
  • Name: Sodium dependent neutral amino acid transporter B(0)AT1 (Solute carrier family 6 member 19) (System B(0) neutral amino acid transporter AT1)
  • Length: 634  
  • Mass: 71110
  • Tissue specificity: Robust expression in kidney and small intestine, with minimal expression in pancreas (PubMed
• Sequence:

  MVRLVLPNPGLDARIPSLAELETIEQEEASSRPKWDNKAQYMLTCLGFCVGLGNVWRFPYLCQSHGGGAFMIPFL
  ILLVLEGIPLLYLEFAIGQRLRRGSLGVWSSIHPALKGLGLASMLTSFMVGLYYNTIISWIMWYLFNSFQEPLPW
  SDCPLNENQTGYVDECARSSPVDYFWYRETLNISTSISDSGSIQWWMLLCLACAWSVLYMCTIRGIETTGKAVYI
  TSTLPYVVLTIFLIRGLTLKGATNGIVFLFTPNVTELAQPDTWLDAGAQVFFSFSLAFGGLISFSSYNSVHNNCE
  KDSVIVSIINGFTSVYVAIVVYSVIGFRATQRYDDCFSTNILTLINGFDLPEGNVTQENFVDMQQRCNASDPAAY
  AQLVFQTCDINAFLSEAVEGTGLAFIVFTEAITKMPLSPLWSVLFFIMLFCLGLSSMFGNMEGVVVPLQDLRVIP
  PKWPKEVLTGLICLGTFLIGFIFTLNSGQYWLSLLDSYAGSIPLLIIAFCEMFSVVYVYGVDRFNKDIEFMIGHK
  PNIFWQVTWRVVSPLLMLIIFLFFFVVEVSQELTYSIWDPGYEEFPKSQKISYPNWVYVVVVIVAGVPSLTIPGY
  AIYKLIRNHCQKPGDHQGLVSTLSTASMNGDLKY

• Structural information:
  • Interpro: IPR000175  IPR002438  IPR037272  
  • Prosite: PS00610 PS50267
  • STRING: ENSP00000305302
• Other Databases: GeneCards:  SLC6A19  Malacards:  SLC6A19

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IBA	cellular component
GO:0015175	neutral amino acid transmembrane transporter activity	IDA	molecular function
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006865	amino acid transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0015293	symporter activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0015171	amino acid transmembrane transporter activity	TAS	molecular function
GO:0006865	amino acid transport	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0015804	neutral amino acid transport	IEA	biological process
GO:0007584	response to nutrient	IEA	biological process
GO:0031526	brush border membrane	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0015175	neutral amino acid transmembrane transporter activity	IEA	molecular function
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0003333	amino acid transmembrane transport	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04974	Protein digestion and absorption
hsa04978	Mineral absorption

Diseases

Associated diseases	References
Iminoglycinuria	KEGG:H00905
Hyperglycinuria	KEGG:H01304
Hartnup disorder	KEGG:H00843
Iminoglycinuria	KEGG:H00905
Hyperglycinuria	KEGG:H01304
Hartnup disorder	KEGG:H00843
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq