• Gene id: 11136

Gene Summary

• Gene Symbol: SLC7A9   Gene   UCSC   Ensembl
• Aliases: BAT1, CSNU3
• Gene name: solute carrier family 7 member 9
• Alternate names: B(0,+)-type amino acid transporter 1, b(0,+)AT, glycoprotein-associated amino acid transporter b0,+AT1, solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9, solute carrier family 7 (cationic amino acid transporter, y+ system), ,
• Gene location: 19q13.11 (32870956: 32830510)     Exons: 13     NC_000019.10
• Gene summary(Entrez): This gene encodes a protein that belongs to a family of light subunits of amino acid transporters. This protein plays a role in the high-affinity and sodium-independent transport of cystine and neutral and dibasic amino acids, and appears to function in t
• OMIM: 604144

Protein Summary

• Protein general information: P82251  
  • Name: b(0,+) type amino acid transporter 1 (b(0,+)AT1) (Glycoprotein associated amino acid transporter b0,+AT1) (Solute carrier family 7 member 9)
  • Length: 487  
  • Mass: 53481
  • Tissue specificity: Expressed in the brush border membrane in the kidney (at protein level). Kidney, small intestine, liver and placenta. {ECO
• Sequence:

  MGDTGLRKRREDEKSIQSQEPKTTSLQKELGLISGISIIVGTIIGSGIFVSPKSVLSNTEAVGPCLIIWAACGVL
  ATLGALCFAELGTMITKSGGEYPYLMEAYGPIPAYLFSWASLIVIKPTSFAIICLSFSEYVCAPFYVGCKPPQIV
  VKCLAAAAILFISTVNSLSVRLGSYVQNIFTAAKLVIVAIIIISGLVLLAQGNTKNFDNSFEGAQLSVGAISLAF
  YNGLWAYDGWNQLNYITEELRNPYRNLPLAIIIGIPLVTACYILMNVSYFTVMTATELLQSQAVAVTFGDRVLYP
  ASWIVPLFVAFSTIGAANGTCFTAGRLIYVAGREGHMLKVLSYISVRRLTPAPAIIFYGIIATIYIIPGDINSLV
  NYFSFAAWLFYGLTILGLIVMRFTRKELERPIKVPVVIPVLMTLISVFLVLAPIISKPTWEYLYCVLFILSGLLF
  YFLFVHYKFGWAQKISKPITMHLQMLMEVVPPEEDPE

• Structural information:
  • Interpro: IPR002293  
  • STRING: ENSP00000023064
• Other Databases: GeneCards:  SLC7A9  Malacards:  SLC7A9

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015175	neutral amino acid transmembrane transporter activity	IBA	molecular function
GO:0015811	L-cystine transport	IBA	biological process
GO:0015179	L-amino acid transmembrane transporter activity	IBA	molecular function
GO:0015184	L-cystine transmembrane transporter activity	IBA	molecular function
GO:0015804	neutral amino acid transport	IBA	biological process
GO:0031526	brush border membrane	IDA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0015184	L-cystine transmembrane transporter activity	IMP	molecular function
GO:0015804	neutral amino acid transport	IMP	biological process
GO:0005886	plasma membrane	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0015811	L-cystine transport	IMP	biological process
GO:0015175	neutral amino acid transmembrane transporter activity	IMP	molecular function
GO:0022857	transmembrane transporter activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0006865	amino acid transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0065003	protein-containing complex assembly	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006865	amino acid transport	TAS	biological process
GO:0050900	leukocyte migration	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0006865	amino acid transport	IEA	biological process
GO:0015171	amino acid transmembrane transporter activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0031526	brush border membrane	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:1902475	L-alpha-amino acid transmembrane transport	IEA	biological process
GO:0003333	amino acid transmembrane transport	IEA	biological process
GO:0042605	peptide antigen binding	ISS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04974	Protein digestion and absorption

Diseases

Associated diseases	References
Cystinuria	KEGG:H00901
Cystinuria	KEGG:H00901
cystinuria	PMID:10471498
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq