• Gene id: 6519

Gene Summary

• Gene Symbol: SLC3A1   Gene   UCSC   Ensembl
• Aliases: ATR1, CSNU1, D2H, NBAT, RBAT
• Gene name: solute carrier family 3 member 1
• Alternate names: neutral and basic amino acid transport protein rBAT, B(0,+)-type amino acid transport protein, SLC3A1 variant B, SLC3A1 variant C, SLC3A1 variant D, SLC3A1 variant E, SLC3A1 variant F, SLC3A1 variant G, amino acid transporter 1, solute carrier family 3 (amino acid,
• Gene location: 2p21 (44275463: 44321493)     Exons: 10     NC_000002.12
• Gene summary(Entrez): This gene encodes a type II membrane glycoprotein which is one of the components of the renal amino acid transporter which transports neutral and basic amino acids in the renal tubule and intestinal tract. Mutations and deletions in this gene are associat
• OMIM: 104614

Protein Summary

• Protein general information: Q07837  
  • Name: Neutral and basic amino acid transport protein rBAT (NBAT) (D2h) (Solute carrier family 3 member 1) (b(0,+) type amino acid transport protein)
  • Length: 685  
  • Mass: 78852
  • Tissue specificity: Expressed in the brush border membrane in the kidney (at protein level). Predominantly expressed in the kidney, small intestine and pancreas. Weakly expressed in liver. {ECO
• Sequence:

  MAEDKSKRDSIEMSMKGCQTNNGFVHNEDILEQTPDPGSSTDNLKHSTRGILGSQEPDFKGVQPYAGMPKEVLFQ
  FSGQARYRIPREILFWLTVASVLVLIAATIAIIALSPKCLDWWQEGPMYQIYPRSFKDSNKDGNGDLKGIQDKLD
  YITALNIKTVWITSFYKSSLKDFRYGVEDFREVDPIFGTMEDFENLVAAIHDKGLKLIIDFIPNHTSDKHIWFQL
  SRTRTGKYTDYYIWHDCTHENGKTIPPNNWLSVYGNSSWHFDEVRNQCYFHQFMKEQPDLNFRNPDVQEEIKEIL
  RFWLTKGVDGFSLDAVKFLLEAKHLRDEIQVNKTQIPDTVTQYSELYHDFTTTQVGMHDIVRSFRQTMDQYSTEP
  GRYRFMGTEAYAESIDRTVMYYGLPFIQEADFPFNNYLSMLDTVSGNSVYEVITSWMENMPEGKWPNWMIGGPDS
  SRLTSRLGNQYVNVMNMLLFTLPGTPITYYGEEIGMGNIVAANLNESYDINTLRSKSPMQWDNSSNAGFSEASNT
  WLPTNSDYHTVNVDVQKTQPRSALKLYQDLSLLHANELLLNRGWFCHLRNDSHYVVYTRELDGIDRIFIVVLNFG
  ESTLLNLHNMISGLPAKMRIRLSTNSADKGSKVDTSGIFLDKGEGLIFEHNTKNLLHRQTAFRDRCFVSNRACYS
  SVLNILYTSC

• Structural information:
  • Interpro: IPR006047  IPR017853  
  • STRING: ENSP00000260649
• Other Databases: GeneCards:  SLC3A1  Malacards:  SLC3A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006865	amino acid transport	IBA	biological process
GO:0031526	brush border membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0006865	amino acid transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0015171	amino acid transmembrane transporter activity	TAS	molecular function
GO:0015174	basic amino acid transmembrane transporter activity	TAS	molecular function
GO:0015184	L-cystine transmembrane transporter activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0015811	L-cystine transport	TAS	biological process
GO:0016020	membrane	TAS	cellular component
GO:0006865	amino acid transport	TAS	biological process
GO:0015802	basic amino acid transport	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0006865	amino acid transport	TAS	biological process
GO:0006865	amino acid transport	IEA	biological process
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005774	vacuolar membrane	IEA	cellular component
GO:0031526	brush border membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0003333	amino acid transmembrane transport	IEA	biological process
GO:1990822	basic 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

Diseases

Associated diseases	References
Cystinuria	KEGG:H00901
Cystinuria	KEGG:H00901
cystinuria	PMID:8054986
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq