Protein detail
S22A4
Solute carrier family 22 member 4 (Ergothioneine transporter) (ET transporter) (ETTh) (Organic cation/carnitine transporter 1) (OCTN1)
Entry name S22A4 | UniProt ID | EVMP confidence score 0.25 |
Supporting publications (n) 1 | Transmembrane count 12 | Protein classification Disease related genesHuman disease related genesMetabolic proteinsPredicted membrane proteins |
EVMP confidence score
Annotation confidence score; open for threshold definitions.
Extremely high >= 0.85High >= 0.70Medium >= 0.55Low >= 0.40Basic Information13
Protein Names
Solute carrier family 22 member 4 (Ergothioneine transporter) (ET transporter) (ETTh) (Organic cation/carnitine transporter 1) (OCTN1)
Protein Class (4)
Disease related genesHuman disease related genesMetabolic proteinsPredicted membrane proteins
Protein Function (3)
- Human disease related genes:Immune system diseases:Allergies and autoimmune diseases
- Disease related genes
- Human disease related genes:Immune system diseases:Other immune system diseases
Transmembrane
21..41; Helical; Name=1; 142..162; Helical; Name=2; 172..192; Helical; Name=3; 198..218; Helical; Name=4; 233..253; Helical; Name=5; 258..278; Helical; Name=6; 338..358; Helical; Name=7; 372..392; Helical; Name=8; 400..420; Helical; Name=9; 427..447; Helical; Name=10; 461..481; Helical; Name=11; 487..507; Helical; Name=12
Transmembrane Count
12
Ensembl
Entrez Gene Symbol
Gene Synonym (3)
DFNB60MGC34546OCTN1
Gene Description
Solute carrier family 22 member 4
Chromosome
5
Position
132294394-132344190
Supporting publications (n)
1
EVMP confidence score
0.25
Fluorescence & Localization3
Cell SpecificCone photoreceptor cellsBlood Cell Specificintermediate monocyteBlood Lineage Specificmonocytes
Function & Pathway7
Protein Function (3)
- Human disease related genes:Immune system diseases:Allergies and autoimmune diseases
- Disease related genes
- Human disease related genes:Immune system diseases:Other immune system diseases
Cellular Component (5)
Molecular Function (10)
- GO:0005277 acetylcholine transmembrane transporter activity
- GO:0005515 protein binding
- GO:0005524 ATP binding
- GO:0008513 secondary active organic cation transmembrane transporter activity
- GO:0015171 amino acid transmembrane transporter activity
- GO:0015199 amino-acid betaine transmembrane transporter activity
- GO:0015226 carnitine transmembrane transporter activity
- GO:0015293 symporter activity
- GO:0015651 quaternary ammonium group transmembrane transporter activity
- GO:0030165 PDZ domain binding
Biological Process (3)
Reactome (3)
Mediation Categories (3)
Clinical-translation mediationFusion and delivery mediationMetabolism mediation
Relations & Evidence27
Ligand-Receptor Signaling (26)
26 records.
| Category | Parent | Database | Transmitter | Receiver | Secreted | Plasma Membrane (Transmembrane) | Plasma Membrane (Peripheral) |
|---|---|---|---|---|---|---|---|
| apical_cell_membrane | plasma_membrane | UniProt_location | No | No | No | No | No |
| plasma_membrane | plasma_membrane | OmniPath | No | No | No | No | No |
| cell_surface | cell_surface | Surfaceome | No | No | No | No | No |
| cell_surface | cell_surface | OmniPath | No | No | No | No | No |
| receptor | receptor | scConnect | No | Yes | No | No | No |
| transmembrane | transmembrane_predicted | Phobius | No | No | No | No | No |
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Sequence, Structure & Domains5
Sequences
Length
551
Mass
62,155
Sequence
MRDYDEVIAFLGEWGPFQRLIFFLLSASIIPNGFNGMSVVFLAGTPEHRCRVPDAANLSSAWRNNSVPLRLRDGREVPHSCSRYRLATIANFSALGLEPGRDVDLGQLEQESCLDGWEFSQDVYLSTVVTEWNLVCEDNWKVPLTTSLFFVGVLLGSFVSGQLSDRFGRKNVLFATMAVQTGFSFLQIFSISWEMFTVLFVIVGMGQISNYVVAFILGTEILGKSVRIIFSTLGVCTFFAVGYMLLPLFAYFIRDWRMLLLALTVPGVLCVPLWWFIPESPRWLISQRRFREAEDIIQKAAKMNNIAVPAVIFDSVEELNPLKQQKAFILDLFRTRNIAIMTIMSLLLWMLTSVGYFALSLDAPNLHGDAYLNCFLSALIEIPAYITAWLLLRTLPRRYIIAAVLFWGGGVLLFIQLVPVDYYFLSIGLVMLGKFGITSAFSMLYVFTAELYPTLVRNMAVGVTSTASRVGSIIAPYFVYLGAYNRMLPYIVMGSLTVLIGILTLFFPESLGMTLPETLEQMQKVKWFRSGKKTRDSMETEENPKVLITAF
Domain & Motif Annotations
Protein Families (2)
- Major facilitator (TC 2.A.1) superfamily
- Organic cation transporter (TC 2.A.1.19) family
Sequence Similarities
Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family.
Clinical Relevance3
Disease Involvement
Disease variant
Drugs (2)
Supporting Publications1
| PMID | Title | Abstract |
|---|---|---|
| 32384937 | Alzheimer's disease progression characterized by alterations in the molecular profiles and biogenesis of brain extracellular vesicles. | No abstract available |