• Gene id: 6583

Gene Summary

• Gene Symbol: SLC22A4   Gene   UCSC   Ensembl
• Aliases: DFNB60, OCTN1
• Gene name: solute carrier family 22 member 4
• Alternate names: solute carrier family 22 member 4, ET transporter, deafness, autosomal recessive 60, ergothioneine transporter, integral membrane transport protein, organic cation/carnitine transporter 1, solute carrier family 22 (organic cation/ergothioneine transporter), mem,
• Gene location: 5q31.1 (132294383: 132344198)     Exons: 11     NC_000005.10
• Gene summary(Entrez): 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. The encoded protein is an organic c
• OMIM: 604392

Protein Summary

• Protein general information: Q9H015  
  • Name: Solute carrier family 22 member 4 (Ergothioneine transporter) (ET transporter) (Organic cation/carnitine transporter 1)
  • Length: 551  
  • Mass: 62155
  • Tissue specificity: Widely expressed. Highly expressed in whole blood, bone marrow, trachea and fetal liver. Weakly expressed in kidney, skeletal muscle, prostate, lung, pancreas, placenta, heart, uterus, spleen and spinal cord. Highly expressed in intest
• Sequence:

  MRDYDEVIAFLGEWGPFQRLIFFLLSASIIPNGFNGMSVVFLAGTPEHRCRVPDAANLSSAWRNNSVPLRLRDGR
  EVPHSCSRYRLATIANFSALGLEPGRDVDLGQLEQESCLDGWEFSQDVYLSTVVTEWNLVCEDNWKVPLTTSLFF
  VGVLLGSFVSGQLSDRFGRKNVLFATMAVQTGFSFLQIFSISWEMFTVLFVIVGMGQISNYVVAFILGTEILGKS
  VRIIFSTLGVCTFFAVGYMLLPLFAYFIRDWRMLLLALTVPGVLCVPLWWFIPESPRWLISQRRFREAEDIIQKA
  AKMNNIAVPAVIFDSVEELNPLKQQKAFILDLFRTRNIAIMTIMSLLLWMLTSVGYFALSLDAPNLHGDAYLNCF
  LSALIEIPAYITAWLLLRTLPRRYIIAAVLFWGGGVLLFIQLVPVDYYFLSIGLVMLGKFGITSAFSMLYVFTAE
  LYPTLVRNMAVGVTSTASRVGSIIAPYFVYLGAYNRMLPYIVMGSLTVLIGILTLFFPESLGMTLPETLEQMQKV
  KWFRSGKKTRDSMETEENPKVLITAF

• Structural information:
  • Interpro: IPR020846  IPR005828  IPR036259  IPR004749  IPR005829  
  • Prosite: PS50850 PS00216
  • STRING: ENSP00000200652
• Other Databases: GeneCards:  SLC22A4  Malacards:  SLC22A4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042908	xenobiotic transport	IDA	biological process
GO:0015171	amino acid transmembrane transporter activity	IDA	molecular function
GO:0042910	xenobiotic transmembrane transporter activity	IDA	molecular function
GO:0015651	quaternary ammonium group transmembrane transporter activity	IDA	molecular function
GO:0015697	quaternary ammonium group transport	IDA	biological process
GO:0089718	amino acid import across plasma membrane	IDA	biological process
GO:0015651	quaternary ammonium group transmembrane transporter activity	IBA	molecular function
GO:0015697	quaternary ammonium group transport	IBA	biological process
GO:0022857	transmembrane transporter activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0006814	sodium ion transport	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0015293	symporter activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0000166	nucleotide binding	TAS	molecular function
GO:0008513	secondary active organic cation transmembrane transporter activity	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007589	body fluid secretion	TAS	biological process
GO:0015695	organic cation transport	TAS	biological process
GO:0015226	carnitine transmembrane transporter activity	IDA	molecular function
GO:0015879	carnitine transport	IDA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0008513	secondary active organic cation transmembrane transporter activity	TAS	molecular function
GO:0015697	quaternary ammonium group transport	IEA	biological process
GO:0015226	carnitine transmembrane transporter activity	IEA	molecular function
GO:0009437	carnitine metabolic process	IEA	biological process
GO:0015879	carnitine transport	IEA	biological process
GO:0006641	triglyceride metabolic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0015651	quaternary ammonium group transmembrane transporter activity	IDA	molecular function
GO:0015491	cation:cation antiporter activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030165	PDZ domain binding	IPI	molecular function
GO:0015697	quaternary ammonium group transport	IDA	biological process
GO:0005886	plasma membrane	IC	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:1902603	carnitine transmembrane transport	IEA	biological process
GO:1902603	carnitine transmembrane transport	IEA	biological process
GO:0098655	cation transmembrane transport	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa05231	Choline metabolism in cancer

Diseases

Associated diseases	References
Crohn disease	KEGG:H00286
Crohn disease	KEGG:H00286
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881