• Gene id: 54896

Gene Summary

• Gene Symbol: SLC66A1   Gene   UCSC   Ensembl
• Aliases: LAAT-1, LAAT1, PQLC2
• Gene name: solute carrier family 66 member 1
• Alternate names: lysosomal amino acid transporter 1 homolog, PQ loop repeat containing 2, PQ-loop repeat-containing protein 2,
• Gene location: 1p36.13 (98056727: 98083082)     Exons: 6     NC_000009.12
• OMIM: 614760

Protein Summary

• Protein general information: Q6ZP29  
  • Name: Lysosomal amino acid transporter 1 homolog (PQ loop repeat containing protein 2) (Solute carrier family 66 member 1)
  • Length: 291  
  • Mass: 31947
• Sequence:

  MVWKKLGSRNFSSCPSGSIQWIWDVLGECAQDGWDEASVGLGLISILCFAASTFPQFIKAYKTGNMDQALSLWFL
  LGWIGGDSCNLIGSFLADQLPLQTYTAVYYVLADLVMLTLYFYYKFRTRPSLLSAPINSVLLFLMGMACATPLLS
  AAGPVAAPREAFRGRALLSVESGSKPFTRQEVIGFVIGSISSVLYLLSRLPQIRTNFLRKSTQGISYSLFALVML
  GNTLYGLSVLLKNPEEGQSEGSYLLHHLPWLVGSLGVLLLDTIISIQFLVYRRSTAASELEPLLPS

• Structural information:
  • Protein Domains: (34..10-)
    (/note="PQ-loop-1)
    (184..24-)
    (/note="PQ-loop-2")
  • Interpro: IPR006603  
  • STRING: ENSP00000364295
• Other Databases: GeneCards:  SLC66A1  Malacards:  SLC66A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005765	lysosomal membrane	IBA	cellular component
GO:0015181	arginine transmembrane transporter activity	IBA	molecular function
GO:0015189	L-lysine transmembrane transporter activity	IBA	molecular function
GO:0015174	basic amino acid transmembrane transporter activity	IBA	molecular function
GO:0016021	integral component of membrane	IBA	cellular component
GO:0080144	amino acid homeostasis	IDA	biological process
GO:0015819	lysine transport	IDA	biological process
GO:0015189	L-lysine transmembrane transporter activity	IDA	molecular function
GO:0015181	arginine transmembrane transporter activity	IDA	molecular function
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0031301	integral component of organelle membrane	IDA	cellular component
GO:0015809	arginine transport	IDA	biological process
GO:0015174	basic amino acid transmembrane transporter activity	ISS	molecular function
GO:0006865	amino acid transport	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015174	basic amino acid transmembrane transporter activity	TAS	molecular function
GO:0055085	transmembrane transport	TAS	biological process
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0080144	amino acid homeostasis	IEA	biological process
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0015174	basic amino acid transmembrane transporter activity	IEA	molecular function
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:1903826	arginine transmembrane transport	IEA	biological process
GO:1903826	arginine transmembrane transport	IEA	biological process
GO:1903401	L-lysine transmembrane transport	IEA	biological process
GO:1903401	L-lysine transmembrane transport	IEA	biological process
GO:1990822	basic amino acid transmembrane transport	IEA	biological process
GO:1990822	basic amino acid transmembrane transport	IEA	biological process
GO:1990822	basic amino acid transmembrane transport	IEA	biological process
GO:1990822	basic amino acid transmembrane transport	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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