Gene Gene information from NCBI Gene database.
Entrez ID 206358
Gene name Solute carrier family 36 member 1
Gene symbol SLC36A1
Synonyms (NCBI Gene)
Dct1LYAAT1PAT1TRAMD3
Chromosome 5
Chromosome location 5q33.1
Summary This gene encodes a member of the eukaryote-specific amino acid/auxin permease (AAAP) 1 transporter family. The encoded protein functions as a proton-dependent, small amino acid transporter. This gene is clustered with related family members on chromosome
miRNA miRNA information provided by mirtarbase database.
742
miRTarBase ID miRNA Experiments Reference
MIRT031320 hsa-miR-18a-5p Sequencing 20371350
MIRT037999 hsa-miR-500a-5p CLASH 23622248
MIRT622226 hsa-miR-8485 HITS-CLIP 23824327
MIRT622225 hsa-miR-329-3p HITS-CLIP 23824327
MIRT622224 hsa-miR-362-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
43
GO ID Ontology Definition Evidence Reference
GO:0005280 Function Amino acid:proton symporter activity IBA
GO:0005280 Function Amino acid:proton symporter activity IDA 12527723, 12809675
GO:0005280 Function Amino acid:proton symporter activity IEA
GO:0005297 Function Proline:proton symporter activity IDA 12527723, 12809675
GO:0005297 Function Proline:proton symporter activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606561 18761 ENSG00000123643
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7Z2H8
Protein name Proton-coupled amino acid transporter 1 (Proton/amino acid transporter 1) (hPAT1) (Solute carrier family 36 member 1)
Protein function Electrogenic proton/amino acid symporter with selectivity for small apolar L-amino acids, their D-enantiomers and selected amino acid derivatives such as 4-aminobutanoate/GABA (PubMed:12527723, PubMed:12809675, PubMed:19549785). May be involved
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01490 Aa_trans 45 457 Transmembrane amino acid transporter protein Family
Sequence
Sequence length 476
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Protein digestion and absorption   Amino acid transport across the plasma membrane
Proton-coupled neutral amino acid transporters
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTISTIC DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLYCINURIA WITH OR WITHOUT OXALATE UROLITHIASIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
IMINOGLYCINURIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Carcinoma Breast Carcinoma BEFREE 11034073
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 29545070 Associate
★☆☆☆☆
Found in Text Mining only
Chronic lung disease Lung Diseases BEFREE 24350656
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 25117815, 25193853 Associate
★☆☆☆☆
Found in Text Mining only
Congenital chloride diarrhea Congenital chloride diarrhea Pubtator 24350656 Associate
★☆☆☆☆
Found in Text Mining only
Fragile X Syndrome Fragile X Syndrome BEFREE 31555743
★☆☆☆☆
Found in Text Mining only
Hyperoxaluria Hyperoxaluria BEFREE 30020825
★☆☆☆☆
Found in Text Mining only
Hypertensive disease Hypertension BEFREE 21143427
★☆☆☆☆
Found in Text Mining only
Inflammatory Bowel Diseases Inflammatory Bowel Disease BEFREE 30020825
★☆☆☆☆
Found in Text Mining only
Kidney Calculi Kidney stone BEFREE 30020825, 31042422
★☆☆☆☆
Found in Text Mining only