SLC67A1 (solute carrier family 67 member 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 5002
Gene name Solute carrier family 67 member 1
Gene symbol SLC67A1
Synonyms (NCBI Gene)
BWR1ABWSCR1AHETIMPT1ITMORCTL2SLC22A18SLC22A1LTSSC5p45-BWR1A
Chromosome 11
Chromosome location 11p15.4
SNPs SNP information provided by dbSNP.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2)
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.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2)
miRTarBase ID miRNA Experiments Reference
MIRT018731 hsa-miR-335-5p Microarray 18185580
MIRT735130 hsa-miR-199a-3p RNA-seqqRT-PCRFlow cytometryImmunocytochemistry (ICC) 32884997
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (19)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005635 Component Nuclear envelope IBA
GO:0005635 Component Nuclear envelope IDA 16314844
GO:0005737 Component Cytoplasm IDA 16314844
GO:0005886 Component Plasma membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602631 10964 ENSG00000110628
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Organic cation transport
Defective SLC22A18 causes lung cancer (LNCR) and embryonal rhabdomyosarcoma 1 (RMSE1)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Unknown Diseases (13)
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
BREAST CANCER — HPO
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EMBRYONAL RHABDOMYOSARCOMA — Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEREDITARY BREAST CANCER — Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (72)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 20138038, 21390183
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 28146208
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 28146208
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 21331694
★★★★★
★☆☆☆☆
Found in Text Mining only
Barrett Esophagus Barrett esophagus BEFREE 20139130, 21390183, 22301112, 22504665, 28941013
★★★★★
★☆☆☆☆
Found in Text Mining only
Barrett Esophagus Barrett esophagus Pubtator 23243219 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Beckwith-Wiedemann Syndrome Beckwith-Wiedemann Syndrome BEFREE 9520460
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Cancer, Familial Breast Cancer ORPHANET_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 10999774, 16624517, 21144813, 30145211, 9328833, 9520460
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma CTD_human_DG
★★★★★
★☆☆☆☆
Found in Text Mining only