Substrate-specific transporter activity

Substrate-specific transporter activity

• ABCA1: ATP-binding cassette, sub-family A (ABC1), member 1
• ANKH: ankylosis, progressive homolog (mouse)
• APOB: apolipoprotein B (including Ag(x) antigen)
• ATP1A2: ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide
• ATP2A2: ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
• ATP2B2: ATPase, Ca++ transporting, plasma membrane 2
• ATP7A: ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome)
• ATP7B: ATPase, Cu++ transporting, beta polypeptide
• BEST1: bestrophin 1
• CACNA1C: calcium channel, voltage-dependent, L type, alpha 1C subunit
• CACNA1S: calcium channel, voltage-dependent, L type, alpha 1S subunit
• CACNB4: calcium channel, voltage-dependent, beta 4 subunit
• CFTR: cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
• CLCN1: chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)
• CNGA3: cyclic nucleotide gated channel alpha 3
• CTNS: cystinosis, nephropathic
• FXN: frataxin
• HBB: hemoglobin, beta
• KCNA1: potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)
• KCNE1: potassium voltage-gated channel, Isk-related family, member 1
• KCNE2: potassium voltage-gated channel, Isk-related family, member 2
• KCNH2: potassium voltage-gated channel, subfamily H (eag-related), member 2
• KCNJ2: potassium inwardly-rectifying channel, subfamily J, member 2
• KCNQ1: potassium voltage-gated channel, KQT-like subfamily, member 1
• NPC1: Niemann-Pick disease, type C1
• OCA2: oculocutaneous albinism II
• PKD2: polycystic kidney disease 2 (autosomal dominant)
• RYR1: ryanodine receptor 1 (skeletal)
• SCN1A: sodium channel, voltage-gated, type I, alpha subunit
• SCN4A: sodium channel, voltage-gated, type IV, alpha subunit
• SCN5A: sodium channel, voltage-gated, type V, alpha subunit
• SCN9A: sodium channel, voltage-gated, type IX, alpha subunit
• SLC12A6: solute carrier family 12 (potassium/chloride transporters), member 6
• SLC16A2: solute carrier family 16, member 2 (monocarboxylic acid transporter 8)
• SLC17A5: solute carrier family 17 (anion/sugar transporter), member 5
• SLC19A2: solute carrier family 19 (thiamine transporter), member 2
• SLC1A3: solute carrier family 1 (glial high affinity glutamate transporter), member 3
• SLC25A13: solute carrier family 25, member 13 (citrin)
• SLC25A15: solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
• SLC25A19: solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
• SLC26A4: solute carrier family 26, member 4
• SLC2A1: solute carrier family 2 (facilitated glucose transporter), member 1
• SLC3A1: solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1
• SLC40A1: solute carrier family 40 (iron-regulated transporter), member 1
• SLC5A1: solute carrier family 5 (sodium/glucose cotransporter), member 1
• SLC5A5: solute carrier family 5 (sodium iodide symporter), member 5
• SLC7A9: solute carrier family 7 (cationic amino acid transporter, y+ system), member 9

Source: Gene Ontology Consortium (September 2008).