SLC66A1 (solute carrier family 66 member 1)

Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54896
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 66 member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC66A1
Synonyms (NCBI Gene) Gene synonyms aliases
LAAT-1, LAAT1, PQLC2
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.13
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(19)
GO ID Ontology Definition Evidence Reference
GO:0005765 Component Lysosomal membrane IBA 21873635
GO:0005765 Component Lysosomal membrane IDA 22822152
GO:0005765 Component Lysosomal membrane TAS
GO:0015174 Function Basic amino acid transmembrane transporter activity IBA 21873635
GO:0015174 Function Basic amino acid transmembrane transporter activity ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
614760 26001 ENSG00000040487
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q6ZP29
Protein name Lysosomal amino acid transporter 1 homolog (PQ-loop repeat-containing protein 2) (Solute carrier family 66 member 1)
Protein function Amino acid transporter that specifically mediates the pH-dependent export of the cationic amino acids arginine, histidine and lysine from lysosomes.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04193 PQ-loop 37 → 98 PQ loop repeat Repeat
PF04193 PQ-loop 183 → 243 PQ loop repeat Repeat
Sequence 
MVWKKLGSRNFSSCPSGSIQWIWDVLGECAQDGWDEASVGLGLISILCFAASTFPQFIKA
YKTGNMDQALSLWFLLGWIGGDSCNLIGSFLADQLPLQTYTAVYYVLADLVMLTLYFYYK
FRTRPSLLSAPINSVLLFLMGMACATPLLSAAGPVAAPREAFRGRALLSVESGSKPFTRQ
EVIGFVIGSISSVLYLLSRLPQIRTNFLRKSTQGISYSLFALVMLGNTLYGLSVLLKNPE
EGQSEGSYLLHHLPWLVGSLGVLLLDTIISIQFLVYRRSTAASELEPLLPS
Sequence length 291
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Efferocytosis   Miscellaneous transport and binding events
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Hypothyroidism Hypothyroidism rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912
View all (22 more)		 30595370