Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways
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

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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

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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

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
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

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

MQGARAPRDQGRSPGRMSALGRSSVILLTYVLAATELTCLFMQFSIVPYLSRKLGLDSIA
FGYLQTTFGVLQLLGGPVFGRFADQRGARAALTLSFLAALALYLLLAAASSPALPGVYLL
FASRLPGALMHTLPAAQMVITDLSAPEERPAALGRLGLCFGVGVILGSLLGGTLVSAYGI
QCPAILAALATLLGAVLSFTCIPASTKGAKTDAQAPLPGGPRASVFDLKAIASLLRLPDV
PRIFLVKVASNCPTGLFMVMFSIISMDFFQLEAAQAGYLMSFFGLLQMVTQGLVIGQLSS
HFSEEVLLRASVLVFIVVGLAMAWMSSVFHFCLLVPGLVFSLCTLNVVTDSMLIKAVSTS
DTGTMLGLCASVQPLLRTLGPTVGGLLYRSFGVPVFGHVQVAINTLVLLVLWRKPMPQRK
DKVR

Sequence length

424

Interactions

View interactions

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

SLC67A1 (solute carrier family 67 member 1)