Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5002
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 67 member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC67A1
Synonyms (NCBI Gene) Gene synonyms aliases
BWR1A, BWSCR1A, HET, IMPT1, ITM, ORCTL2, SLC22A18, SLC22A1L, TSSC5, p45-BWR1A
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p15.4
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs78838117 G>A Pathogenic Missense variant, coding sequence variant, intron variant
rs121909071 C>T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT018731 hsa-miR-335-5p Microarray 18185580
MIRT735130 hsa-miR-199a-3p RNA-seq, qRT-PCR, Flow cytometry, Immunocytochemistry (ICC) 32884997
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005635 Component Nuclear envelope IDA 16314844
GO:0005737 Component Cytoplasm IDA 16314844
GO:0005886 Component Plasma membrane TAS
GO:0007588 Process Excretion NAS 9744804
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602631 10964 ENSG00000110628
Protein
UniProt ID Q96BI1
Protein name Solute carrier family 67 member A1 (Beckwith-Wiedemann syndrome chromosomal region 1 candidate gene A protein) (Efflux transporter-like protein) (Imprinted multi-membrane-spanning polyspecific transporter-related protein 1) (Organic cation transporter-lik
Protein function May act as a transporter of organic cations based on a proton efflux antiport mechanism. May play a role in the transport of chloroquine and quinidine-related compounds in kidney (PubMed:9744804). Plays a role in the regulation of lipid metaboli
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07690 MFS_1 26 343 Major Facilitator Superfamily Family
PF07690 MFS_1 243 424 Major Facilitator Superfamily Family
Tissue specificity TISSUE SPECIFICITY: Expressed at high levels in adult and fetal kidney and liver, and adult colon. Expressed in fetal renal proximal tubules (at protein level). Expressed at lower levels in heart, brain and lung. {ECO:0000269|PubMed:9499412, ECO:0000269|P
Sequence
Sequence length 424
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Organic cation transport
Defective SLC22A18 causes lung cancer (LNCR) and embryonal rhabdomyosarcoma 1 (RMSE1)
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast, Breast Cancer, Familial rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
Lung adenocarcinoma Bronchioloalveolar Adenocarcinoma rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370
View all (5 more)
Lung cancer Malignant neoplasm of lung rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135