Gene table of SLC3A1 : solute carrier family 3 member 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with SLC3A1	OMIM link	Number of associated genes	genes
220100	CYSTINURIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	2	SLC7A9, SLC3A1

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Protein digestion and absorption	hsa04974	6.2

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
SLC-mediated transmembrane transport	R-HSA-425407	4.95
Transport of inorganic cations/anions and amino acids/oligopeptides	R-HSA-425393	6.41
Amino acid transport across the plasma membrane	R-HSA-352230	8.03
Transmembrane transport of small molecules	R-HSA-382551	3.79

Associated GO terms for Molecular function

GO term	GO ID	GO IC
substrate-specific transmembrane transporter activity	GO:0022891	2.9
sulfur compound transmembrane transporter activity	GO:1901682	6.44
sulfur amino acid transmembrane transporter activity	GO:0000099	7.79
organic acid transmembrane transporter activity	GO:0005342	4.97
transporter activity	GO:0005215	2.57
modified amino acid transmembrane transporter activity	GO:0072349	6.97
catalytic activity	GO:0003824	1.05
transmembrane transporter activity	GO:0022857	2.82
substrate-specific transporter activity	GO:0022892	2.72
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
basic amino acid transmembrane transporter activity	GO:0015174	7.44
L-cystine transmembrane transporter activity	GO:0015184	8.35
protein dimerization activity	GO:0046983	2.72
protein heterodimerization activity	GO:0046982	3.64
amino acid transmembrane transporter activity	GO:0015171	5.38
carboxylic acid transmembrane transporter activity	GO:0046943	4.99
L-amino acid transmembrane transporter activity	GO:0015179	6.0