SLC67A1 (solute carrier family 67 member 1)

Gene

• Entrez ID: 5002
• Gene name: Solute carrier family 67 member 1
• Gene symbol: SLC67A1
• Synonyms (NCBI Gene): BWR1A, BWSCR1A, HET, IMPT1, ITM, ORCTL2, SLC22A18, SLC22A1L, TSSC5, p45-BWR1A
• Chromosome: 11
• Chromosome location: 11p15.4

SNPs

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

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)

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
GO:0005886	Component	Plasma membrane	TAS
GO:0015695	Process	Organic cation transport	NAS	9744804
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	9499412, 9751628
GO:0016324	Component	Apical plasma membrane	IDA	9744804
GO:0016324	Component	Apical plasma membrane	IEA
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	16314844
GO:0042908	Process	Xenobiotic transport	IDA	9744804
GO:0042910	Function	Xenobiotic transmembrane transporter activity	TAS
GO:0055085	Process	Transmembrane transport	IEA
GO:1990961	Process	Xenobiotic detoxification by transmembrane export across the plasma membrane	IBA
GO:1990961	Process	Xenobiotic detoxification by transmembrane export across the plasma membrane	IDA	9744804

Other IDs

• MIM: 602631
• HGNC: 10964
• e!Ensembl: 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:

  MQGARAPRDQGRSPGRMSALGRSSVILLTYVLAATELTCLFMQFSIVPYLSRKLGLDSIA
  FGYLQTTFGVLQLLGGPVFGRFADQRGARAALTLSFLAALALYLLLAAASSPALPGVYLL
  FASRLPGALMHTLPAAQMVITDLSAPEERPAALGRLGLCFGVGVILGSLLGGTLVSAYGI
  QCPAILAALATLLGAVLSFTCIPASTKGAKTDAQAPLPGGPRASVFDLKAIASLLRLPDV
  PRIFLVKVASNCPTGLFMVMFSIISMDFFQLEAAQAGYLMSFFGLLQMVTQGLVIGQLSS
  HFSEEVLLRASVLVFIVVGLAMAWMSSVFHFCLLVPGLVFSLCTLNVVTDSMLIKAVSTS
  DTGTMLGLCASVQPLLRTLGPTVGGLLYRSFGVPVFGHVQVAINTLVLLVLWRKPMPQRK
  DKVR

• Sequence length: 424

Pathways

Reactome:

Organic cation transport
Defective SLC22A18 causes lung cancer (LNCR) and embryonal rhabdomyosarcoma 1 (RMSE1)

Associated diseases

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Lung adenocarcinoma	Uncertain significance	rs1163822773	RCV003129676
Rhabdomyosarcoma, somatic	Conflicting classifications of pathogenicity	rs78838117	RCV000007392
SLC22A18-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign	rs78838117, rs115166011, rs558203402	RCV003934806 RCV003944503 RCV003954702
Squamous cell carcinoma of the head and neck	Uncertain significance	rs770190420	RCV005930875