Gene Gene information from NCBI Gene database.
Entrez ID 6580
Gene name Solute carrier family 22 member 1
Gene symbol SLC22A1
Synonyms (NCBI Gene)
HOCT1OCT1oct1_cds
Chromosome 6
Chromosome location 6q25.3
Summary Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar c
miRNA miRNA information provided by mirtarbase database.
14
miRTarBase ID miRNA Experiments Reference
MIRT646165 hsa-miR-6768-5p HITS-CLIP 23824327
MIRT646164 hsa-miR-6856-3p HITS-CLIP 23824327
MIRT646163 hsa-miR-4687-5p HITS-CLIP 23824327
MIRT646162 hsa-miR-4275 HITS-CLIP 23824327
MIRT646161 hsa-miR-3941 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
100
GO ID Ontology Definition Evidence Reference
GO:0005277 Function Acetylcholine transmembrane transporter activity IDA 15817714
GO:0005277 Function Acetylcholine transmembrane transporter activity IEA
GO:0005326 Function Neurotransmitter transmembrane transporter activity IDA 12439218, 24688079, 24961373, 35469921
GO:0005326 Function Neurotransmitter transmembrane transporter activity IEA
GO:0005330 Function Dopamine:sodium symporter activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602607 10963 ENSG00000175003
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O15245
Protein name Solute carrier family 22 member 1 (Organic cation transporter 1) (hOCT1)
Protein function Electrogenic voltage-dependent transporter that mediates the transport of a variety of organic cations such as endogenous bioactive amines, cationic drugs and xenobiotics (PubMed:11388889, PubMed:11408531, PubMed:12439218, PubMed:12719534, PubMe
PDB 8ET6 , 8ET7 , 8ET8 , 8JTS , 8JTT , 8JTV , 8JTW , 8JTX , 8JTY , 8JTZ , 8JU0 , 8SC1 , 8SC2 , 8SC3 , 8SC4 , 8SC6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00083 Sugar_tr 89 371 Sugar (and other) transporter Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed with high level in liver (PubMed:11388889, PubMed:23680637, PubMed:9187257, PubMed:9260930). In liver, expressed around the central vein (PubMed:16263091). Expressed in kidney (PubMed:9187257, PubMed:9260930). Expresse
Sequence
MPTVDDILEQVGESGWFQKQAFLILCLLSAAFAPICVGIVFLGFTPDHHCQSPGVAELSQ
RCGWSPAEELNYTVPGLGPAGEAFLGQCRRYEVDWNQSALSCVDPLASLATNRSHLPLGP
CQDGWVYDTPGSSIVTEFNLVCADSWKLDLFQSCLNAGFLFGSLGVGYFADRFGRKLCLL
GTVLVNAVSGVLMAFSPNYMSMLLFRLLQGLVSKGNWMAGYTLITEFVGSGSRRTVAIMY
QMAFTVGLVALTGLAYALPHWRWLQLAVSLPTFLFLLYYWCVPESPRWLLSQKRNTEAIK
IMDHIAQKNGKLPPADLKMLSLEEDVTEKLSPSFADLFRTPRLRKRTFILMYLWFTDSVL
YQGLILHMGAT
SGNLYLDFLYSALVEIPGAFIALITIDRVGRIYPMAMSNLLAGAACLVM
IFISPDLHWLNIIIMCVGRMGITIAIQMICLVNAELYPTFVRNLGVMVCSSLCDIGGIIT
PFIVFRLREVWQALPLILFAVLGLLAAGVTLLLPETKGVALPETMKDAENLGRKAKPKEN
TIYLKVQTSEPSGT
Sequence length 554
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
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
Aganglionic megacolon Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
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
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 19327156
★☆☆☆☆
Found in Text Mining only
Adult onset autosomal dominant leukodystrophy Leukodystrophy BEFREE 23261988
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 16173915
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 15751072 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis, Gouty Gouty arthritis GWASCAT_DG 22179738
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 16173915
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 31266507
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 8121549
★☆☆☆☆
Found in Text Mining only
Birdshot chorioretinopathy Birdshot Chorioretinopathy BEFREE 28456419
★☆☆☆☆
Found in Text Mining only
Bladder neck obstruction Bladder neck obstruction BEFREE 22521288
★☆☆☆☆
Found in Text Mining only