• Gene id: 9056

Gene Summary

• Gene Symbol: SLC7A7   Gene   UCSC   Ensembl
• Aliases: LAT3, LPI, MOP-2, Y+LAT1, y+LAT-1
• Gene name: solute carrier family 7 member 7
• Alternate names: Y+L amino acid transporter 1, monocyte amino acid permease 2, solute carrier family 7 (amino acid transporter light chain, y+L system), member 7, solute carrier family 7 (cationic amino acid transporter, y+ system), member 7, y(+)L-type amino acid transporter,
• Gene location: 14q11.2 (22819795: 22773221)     Exons: 12     NC_000014.9
• Gene summary(Entrez): The protein encoded by this gene is the light subunit of a cationic amino acid transporter. This sodium-independent transporter is formed when the light subunit encoded by this gene dimerizes with the heavy subunit transporter protein SLC3A2. This transpo
• OMIM: 609372

Protein Summary

• Protein general information: Q9UM01  
  • Name: Y+L amino acid transporter 1 (Monocyte amino acid permease 2) (MOP 2) (Solute carrier family 7 member 7) (y(+)L type amino acid transporter 1) (Y+LAT1) (y+LAT 1)
  • Length: 511  
  • Mass: 55991
  • Tissue specificity: Highest expression in kidney and peripheral blood leukocytes. Weaker expression is observed in lung, heart, placenta, spleen, testis and small intestine. Expressed in normal fibroblasts and those from LPI patients. Also expressed in HU
• Sequence:

  MVDSTEYEVASQPEVETSPLGDGASPGPEQVKLKKEISLLNGVCLIVGNMIGSGIFVSPKGVLIYSASFGLSLVI
  WAVGGLFSVFGALCYAELGTTIKKSGASYAYILEAFGGFLAFIRLWTSLLIIEPTSQAIIAITFANYMVQPLFPS
  CFAPYAASRLLAAACICLLTFINCAYVKWGTLVQDIFTYAKVLALIAVIVAGIVRLGQGASTHFENSFEGSSFAV
  GDIALALYSALFSYSGWDTLNYVTEEIKNPERNLPLSIGISMPIVTIIYILTNVAYYTVLDMRDILASDAVAVTF
  ADQIFGIFNWIIPLSVALSCFGGLNASIVAASRLFFVGSREGHLPDAICMIHVERFTPVPSLLFNGIMALIYLCV
  EDIFQLINYYSFSYWFFVGLSIVGQLYLRWKEPDRPRPLKLSVFFPIVFCLCTIFLVAVPLYSDTINSLIGIAIA
  LSGLPFYFLIIRVPEHKRPLYLRRIVGSATRYLQVLCMSVAAEMDLEDGGEMPKQRDPKSN

• Structural information:
  • Interpro: IPR002293  
  • STRING: ENSP00000380666
• Other Databases: GeneCards:  SLC7A7  Malacards:  SLC7A7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000821	regulation of arginine metabolic process	IBA	biological process
GO:0015179	L-amino acid transmembrane transporter activity	IBA	molecular function
GO:0015174	basic amino acid transmembrane transporter activity	IBA	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: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:0000821	regulation of arginine metabolic process	IEA	biological process
GO:0015174	basic amino acid transmembrane transporter activity	IEA	molecular function
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:1990822	basic amino acid transmembrane transport	TAS	biological process
GO:1902475	L-alpha-amino acid transmembrane transport	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04974	Protein digestion and absorption

Diseases

Associated diseases	References
Secondary hyperammonemia	KEGG:H01400
Lysinuric protein intolerance	KEGG:H00899
Secondary hyperammonemia	KEGG:H01400
Lysinuric protein intolerance	KEGG:H00899
Lysinuric protein intolerance	PMID:10080182
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray