Pathways > Disorders of transmembrane transporters
Page last updated: 2024-10-06

Disorders of transmembrane transporters

Proteins (99)

ProteinSynonymsTaxonomy
Basigin5F7; Collagenase stimulatory factor; Extracellular matrix metalloproteinase inducer; EMMPRIN; Hepatoma-associated antigen; HAb18G; Leukocyte activation antigen M6; OK blood group antigen; Tumor cell-derived collagenase stimulatory factor; TCSFHomo sapiens (human)
Multidrug resistance-associated protein 6ATP-binding cassette sub-family C member 6; Anthracycline resistance-associated protein; Multi-specific organic anion transporter E; MOAT-EHomo sapiens (human)
Proteasome subunit beta type-9EC 3.4.25.1; Low molecular mass protein 2; Macropain chain 7; Multicatalytic endopeptidase complex chain 7; Proteasome chain 7; Proteasome subunit beta-1i; Really interesting new gene 12 proteinHomo sapiens (human)
Erlin-2Endoplasmic reticulum lipid raft-associated protein 2; Stomatin-prohibitin-flotillin-HflC/K domain-containing protein 2; SPFH domain-containing protein 2Homo sapiens (human)
Cystic fibrosis transmembrane conductance regulatorCFTR; ATP-binding cassette sub-family C member 7; Channel conductance-controlling ATPase; 5.6.1.6; cAMP-dependent chloride channelHomo sapiens (human)
Proteasome subunit beta type-1Macropain subunit C5; Multicatalytic endopeptidase complex subunit C5; Proteasome component C5; Proteasome gamma chainHomo sapiens (human)
Sodium-dependent noradrenaline transporter Norepinephrine transporter; NET; Solute carrier family 6 member 2Homo sapiens (human)
Vasopressin V2 receptorV2R; AVPR V2; Antidiuretic hormone receptor; Renal-type arginine vasopressin receptorHomo sapiens (human)
Hexokinase-4HK4; EC 2.7.1.1; Glucokinase; Hexokinase type IV; HK IV; Hexokinase-DHomo sapiens (human)
Proteasome activator complex subunit 311S regulator complex subunit gamma; REG-gamma; Activator of multicatalytic protease subunit 3; Ki nuclear autoantigen; Proteasome activator 28 subunit gamma; PA28g; PA28gammaHomo sapiens (human)
Proteasome subunit beta type-3Proteasome chain 13; Proteasome component C10-II; Proteasome theta chainHomo sapiens (human)
Glucokinase regulatory proteinGKRP; Glucokinase regulatorHomo sapiens (human)
High affinity choline transporter 1Hemicholinium-3-sensitive choline transporter; CHT; Solute carrier family 5 member 7Homo sapiens (human)
26S proteasome non-ATPase regulatory subunit 1026S proteasome regulatory subunit p28; Gankyrin; p28(GANK)Homo sapiens (human)
Apolipoprotein A-IApo-AI; ApoA-I; Apolipoprotein A1Homo sapiens (human)
Proteasome subunit beta type-8EC 3.4.25.1; Low molecular mass protein 7; Macropain subunit C13; Multicatalytic endopeptidase complex subunit C13; Proteasome component C13; Proteasome subunit beta-5i; Really interesting new gene 10 proteinHomo sapiens (human)
Proteasome subunit beta type-5EC 3.4.25.1; Macropain epsilon chain; Multicatalytic endopeptidase complex epsilon chain; Proteasome chain 6; Proteasome epsilon chain; Proteasome subunit MB1; Proteasome subunit XHomo sapiens (human)
Proteasome subunit beta type-2Macropain subunit C7-I; Multicatalytic endopeptidase complex subunit C7-I; Proteasome component C7-IHomo sapiens (human)
Transitional endoplasmic reticulum ATPaseTER ATPase; EC 3.6.4.6; 15S Mg(2+)-ATPase p97 subunit; Valosin-containing protein; VCPHomo sapiens (human)
ATP-sensitive inward rectifier potassium channel 11IKATP; Inward rectifier K(+) channel Kir6.2; Potassium channel, inwardly rectifying subfamily J member 11Homo sapiens (human)
Solute carrier organic anion transporter family member 1B3Liver-specific organic anion transporter 2; LST-2; Organic anion transporter 8; Organic anion-transporting polypeptide 8; OATP-8; Solute carrier family 21 member 8Homo sapiens (human)
E3 SUMO-protein ligase RanBP2EC 2.3.2.-; 358 kDa nucleoporin; Nuclear pore complex protein Nup358; Nucleoporin Nup358; Ran-binding protein 2; RanBP2; p270Homo sapiens (human)
Proteasome subunit beta type-11EC 3.4.25.1; Proteasome subunit beta-5tHomo sapiens (human)
26S proteasome non-ATPase regulatory subunit 1126S proteasome regulatory subunit RPN6; 26S proteasome regulatory subunit S9; 26S proteasome regulatory subunit p44.5Homo sapiens (human)
26S proteasome non-ATPase regulatory subunit 1226S proteasome regulatory subunit RPN5; 26S proteasome regulatory subunit p55Homo sapiens (human)
26S proteasome non-ATPase regulatory subunit 14EC 3.4.19.-; 26S proteasome regulatory subunit RPN11; 26S proteasome-associated PAD1 homolog 1Homo sapiens (human)
Proteasome subunit alpha type-7Proteasome subunit RC6-1; Proteasome subunit XAPC7Homo sapiens (human)
26S proteasome non-ATPase regulatory subunit 326S proteasome regulatory subunit RPN3; 26S proteasome regulatory subunit S3; Proteasome subunit p58Homo sapiens (human)
26S proteasome regulatory subunit 6A26S proteasome AAA-ATPase subunit RPT5; Proteasome 26S subunit ATPase 3; Proteasome subunit P50; Tat-binding protein 1; TBP-1Homo sapiens (human)
Proteasome subunit alpha type-130 kDa prosomal protein; PROS-30; Macropain subunit C2; Multicatalytic endopeptidase complex subunit C2; Proteasome component C2; Proteasome nu chainHomo sapiens (human)
Proteasome subunit alpha type-2Macropain subunit C3; Multicatalytic endopeptidase complex subunit C3; Proteasome component C3Homo sapiens (human)
Proteasome subunit alpha type-3Macropain subunit C8; Multicatalytic endopeptidase complex subunit C8; Proteasome component C8Homo sapiens (human)
Proteasome subunit alpha type-4Macropain subunit C9; Multicatalytic endopeptidase complex subunit C9; Proteasome component C9; Proteasome subunit LHomo sapiens (human)
Proteasome subunit alpha type-5Macropain zeta chain; Multicatalytic endopeptidase complex zeta chain; Proteasome zeta chainHomo sapiens (human)
Proteasome subunit beta type-426 kDa prosomal protein; HsBPROS26; PROS-26; Macropain beta chain; Multicatalytic endopeptidase complex beta chain; Proteasome beta chain; Proteasome chain 3; HsN3Homo sapiens (human)
Proteasome subunit beta type-6EC 3.4.25.1; Macropain delta chain; Multicatalytic endopeptidase complex delta chain; Proteasome delta chain; Proteasome subunit YHomo sapiens (human)
26S proteasome regulatory subunit 726S proteasome AAA-ATPase subunit RPT1; Proteasome 26S subunit ATPase 2; Protein MSS1Homo sapiens (human)
Proteasome subunit beta type-10EC 3.4.25.1; Low molecular mass protein 10; Macropain subunit MECl-1; Multicatalytic endopeptidase complex subunit MECl-1; Proteasome MECl-1; Proteasome subunit beta-2iHomo sapiens (human)
26S proteasome regulatory subunit 6B26S proteasome AAA-ATPase subunit RPT3; MB67-interacting protein; MIP224; Proteasome 26S subunit ATPase 4; Tat-binding protein 7; TBP-7Homo sapiens (human)
26S proteasome non-ATPase regulatory subunit 826S proteasome regulatory subunit RPN12; 26S proteasome regulatory subunit S14; p31Homo sapiens (human)
26S proteasome non-ATPase regulatory subunit 726S proteasome regulatory subunit RPN8; 26S proteasome regulatory subunit S12; Mov34 protein homolog; Proteasome subunit p40Homo sapiens (human)
26S proteasome non-ATPase regulatory subunit 426S proteasome regulatory subunit RPN10; 26S proteasome regulatory subunit S5A; Antisecretory factor 1; AF; ASF; Multiubiquitin chain-binding proteinHomo sapiens (human)
26S proteasome complex subunit SEM126S proteasome complex subunit DSS1; Deleted in split hand/split foot protein 1; Split hand/foot deleted protein 1; Split hand/foot malformation type 1 proteinHomo sapiens (human)
Proteasome subunit alpha type-627 kDa prosomal protein; PROS-27; p27K; Macropain iota chain; Multicatalytic endopeptidase complex iota chain; Proteasome iota chainHomo sapiens (human)
26S proteasome regulatory subunit 4P26s4; 26S proteasome AAA-ATPase subunit RPT2; Proteasome 26S subunit ATPase 1Homo sapiens (human)
26S proteasome regulatory subunit 826S proteasome AAA-ATPase subunit RPT6; Proteasome 26S subunit ATPase 5; Proteasome subunit p45; Thyroid hormone receptor-interacting protein 1; TRIP1; p45/SUGHomo sapiens (human)
26S proteasome regulatory subunit 10B26S proteasome AAA-ATPase subunit RPT4; Proteasome 26S subunit ATPase 6; Proteasome subunit p42Homo sapiens (human)
26S proteasome non-ATPase regulatory subunit 226S proteasome regulatory subunit RPN1; 26S proteasome regulatory subunit S2; 26S proteasome subunit p97; Protein 55.11; Tumor necrosis factor type 1 receptor-associated protein 2Homo sapiens (human)
26S proteasome non-ATPase regulatory subunit 626S proteasome regulatory subunit RPN7; 26S proteasome regulatory subunit S10; Breast cancer-associated protein SGA-113M; Phosphonoformate immuno-associated protein 4; Proteasome regulatory particle subunit p44S10; p42AHomo sapiens (human)
Proteasome subunit alpha-type 8Proteasome alpha 4 subunit; Alpha4s; Proteasome subunit alpha-type 7-likeHomo sapiens (human)
Proteasome subunit beta type-7EC 3.4.25.1; Macropain chain Z; Multicatalytic endopeptidase complex chain Z; Proteasome subunit ZHomo sapiens (human)
26S proteasome non-ATPase regulatory subunit 126S proteasome regulatory subunit RPN2; 26S proteasome regulatory subunit S1; 26S proteasome subunit p112Homo sapiens (human)
Solute carrier family 40 member 1Ferroportin-1; Iron-regulated transporter 1Homo sapiens (human)
26S proteasome non-ATPase regulatory subunit 1326S proteasome regulatory subunit RPN9; 26S proteasome regulatory subunit S11; 26S proteasome regulatory subunit p40.5Homo sapiens (human)
Nuclear pore complex protein Nup155155 kDa nucleoporin; Nucleoporin Nup155Homo sapiens (human)
Proteasome activator complex subunit 111S regulator complex subunit alpha; REG-alpha; Activator of multicatalytic protease subunit 1; Interferon gamma up-regulated I-5111 protein; IGUP I-5111; Proteasome activator 28 subunit alpha; PA28a; PA28alphaHomo sapiens (human)
Proteasome activator complex subunit 211S regulator complex subunit beta; REG-beta; Activator of multicatalytic protease subunit 2; Proteasome activator 28 subunit beta; PA28b; PA28betaHomo sapiens (human)
CeruloplasminEC 1.16.3.1; FerroxidaseHomo sapiens (human)
Nuclear pore complex protein Nup8888 kDa nucleoporin; Nucleoporin Nup88Homo sapiens (human)
26S proteasome non-ATPase regulatory subunit 926S proteasome regulatory subunit p27Homo sapiens (human)
ATP-binding cassette sub-family G member 8EC 7.6.2.-; Sterolin-2Homo sapiens (human)
mRNA export factorRae1 protein homolog; mRNA-associated protein mrnp 41Homo sapiens (human)
Nuclear pore membrane glycoprotein 210Nuclear pore protein gp210; Nuclear envelope pore membrane protein POM 210; POM210; Nucleoporin Nup210; Pore membrane protein of 210 kDaHomo sapiens (human)
Lysosomal cobalamin transporter ABCD4ATP-binding cassette sub-family D member 4; PMP70-related protein; P70R; Peroxisomal membrane protein 1-like; PXMP1-L; Peroxisomal membrane protein 69; PMP69Homo sapiens (human)
Nucleoporin NUP42NLP-1; NUP42 homolog; Nucleoporin hCG1; Nucleoporin-42; Nucleoporin-like protein 2Homo sapiens (human)
Sodium/potassium/calcium exchanger 1Na(+)/K(+)/Ca(2+)-exchange protein 1; Retinal rod Na-Ca+K exchanger; Solute carrier family 24 member 1Homo sapiens (human)
Erlin-1Endoplasmic reticulum lipid raft-associated protein 1; Protein KE04; Stomatin-prohibitin-flotillin-HflC/K domain-containing protein 1; SPFH domain-containing protein 1Homo sapiens (human)
4F2 cell-surface antigen heavy chain4F2hc; 4F2 heavy chain antigen; Lymphocyte activation antigen 4F2 large subunit; Solute carrier family 3 member 2Homo sapiens (human)
Nuclear pore complex protein Nup214214 kDa nucleoporin; Nucleoporin Nup214; Protein CANHomo sapiens (human)
Nuclear pore glycoprotein p6262 kDa nucleoporin; Nucleoporin Nup62Homo sapiens (human)
Nuclear pore complex protein Nup153153 kDa nucleoporin; Nucleoporin Nup153Homo sapiens (human)
Protein SEC13 homologGATOR complex protein SEC13; SEC13-like protein 1; SEC13-related proteinHomo sapiens (human)
Nuclear pore complex protein Nup107107 kDa nucleoporin; Nucleoporin Nup107Homo sapiens (human)
CMP-sialic acid transporterCMP-SA-Tr; CMP-Sia-Tr; Solute carrier family 35 member A1Homo sapiens (human)
b(0,+)-type amino acid transporter 1b(0,+)AT1; Glycoprotein-associated amino acid transporter b0,+AT1; Solute carrier family 7 member 9Homo sapiens (human)
Neutral and basic amino acid transport protein rBATNBAT; D2h; Solute carrier family 3 member 1; b(0,+)-type amino acid transport proteinHomo sapiens (human)
Nuclear pore complex protein Nup160160 kDa nucleoporin; Nucleoporin Nup160Homo sapiens (human)
Proteasome activator complex subunit 4Proteasome activator PA200Homo sapiens (human)
26S proteasome non-ATPase regulatory subunit 526S protease subunit S5 basic; 26S proteasome subunit S5BHomo sapiens (human)
Nucleoporin NUP188hNup188Homo sapiens (human)
Nucleoporin p5454 kDa nucleoporinHomo sapiens (human)
Sodium/hydrogen exchanger 9Na(+)/H(+) exchanger 9; NHE-9; Solute carrier family 9 member 9Homo sapiens (human)
Nuclear pore complex protein Nup9393 kDa nucleoporin; Nucleoporin Nup93Homo sapiens (human)
Vesicular glutamate transporter 3VGluT3; Solute carrier family 17 member 8Homo sapiens (human)
Nucleoporin Nup43Nup107-160 subcomplex subunit Nup43; p42Homo sapiens (human)
Nucleoporin Nup37p37; Nup107-160 subcomplex subunit Nup37Homo sapiens (human)
Nucleoporin NUP3535 kDa nucleoporin; Mitotic phosphoprotein 44; MP-44; Nuclear pore complex protein Nup53; Nucleoporin NUP53Homo sapiens (human)
Nuclear pore complex protein Nup133133 kDa nucleoporin; Nucleoporin Nup133Homo sapiens (human)
Proteasome inhibitor PI31 subunithPI31Homo sapiens (human)
Nuclear pore complex protein Nup205205 kDa nucleoporin; Nucleoporin Nup205Homo sapiens (human)
HephaestinEC 1.-.-.-Homo sapiens (human)
Nucleoporin NDC1hNDC1; Transmembrane protein 48Homo sapiens (human)
Nuclear pore complex protein Nup8585 kDa nucleoporin; FROUNT; Nucleoporin Nup75; Nucleoporin Nup85; Pericentrin-1Homo sapiens (human)
ATP-binding cassette sub-family G member 5EC 7.6.2.-; Sterolin-1Homo sapiens (human)
Sodium- and chloride-dependent transporter XTRP3Sodium/imino-acid transporter 1; Solute carrier family 6 member 20; Transporter rB21A homologHomo sapiens (human)
AladinAdracalinHomo sapiens (human)
Lysosomal cobalamin transport escort protein LMBD1LMBD1; HDAg-L-interacting protein NESI; LMBR1 domain-containing protein 1; Nuclear export signal-interacting proteinHomo sapiens (human)
Protein sel-1 homolog 1Suppressor of lin-12-like protein 1; Sel-1LHomo sapiens (human)
Nuclear pore complex protein Nup5050 kDa nucleoporin; Nuclear pore-associated protein 60 kDa-like; Nucleoporin Nup50Homo sapiens (human)

Compounds (35)

CompoundDescription
hydronium ion
l-lactic acid
ArginineAn essential amino acid that is physiologically active in the L-form.
vx-770
Ammonium
CopperA heavy metal trace element with the atomic symbol Cu, atomic number 29, and atomic weight 63.55.
CopperA heavy metal trace element with the atomic symbol Cu, atomic number 29, and atomic weight 63.55.
CalciumA basic element found in nearly all tissues. It is a member of the alkaline earth family of metals with the atomic symbol Ca, atomic number 20, and atomic weight 40. Calcium is the most abundant mineral in the body and combines with phosphorus to form calcium phosphate in the bones and teeth. It is essential for the normal functioning of nerves and muscles and plays a role in blood coagulation (as factor IV) and in many enzymatic processes.
ironA metallic element with atomic symbol Fe, atomic number 26, and atomic weight 55.85. It is an essential constituent of HEMOGLOBINS; CYTOCHROMES; and IRON-BINDING PROTEINS. It plays a role in cellular redox reactions and in the transport of OXYGEN.
IronA metallic element with atomic symbol Fe, atomic number 26, and atomic weight 55.85. It is an essential constituent of HEMOGLOBINS; CYTOCHROMES; and IRON-BINDING PROTEINS. It plays a role in cellular redox reactions and in the transport of OXYGEN.
iodineA nonmetallic element of the halogen group that is represented by the atomic symbol I, atomic number 53, and atomic weight of 126.90. It is a nutritionally essential element, especially important in thyroid hormone synthesis. In solution, it has anti-infective properties and is used topically.
cholineA basic constituent of lecithin that is found in many plants and animal organs. It is important as a precursor of acetylcholine, as a methyl donor in various metabolic processes, and in lipid metabolism.
chlorineAn element with atomic symbol Cl, atomic number 17, and atomic weight 35, and member of the halogen family.
ZincA metallic element of atomic number 30 and atomic weight 65.38. It is a necessary trace element in the diet, forming an essential part of many enzymes, and playing an important role in protein synthesis and in cell division. Zinc deficiency is associated with ANEMIA, short stature, HYPOGONADISM, impaired WOUND HEALING, and geophagia. It is known by the symbol Zn.
Orthophosphate
Dopamine Hydrochloride
Cobalamins
CholesterolThe principal sterol of all higher animals, distributed in body tissues, especially the brain and spinal cord, and in animal fats and oils.
adenosine diphosphateAdenosine 5'-(trihydrogen diphosphate). An adenine nucleotide containing two phosphate groups esterified to the sugar moiety at the 5'-position.
hydrogen carbonate
potassiumAn element in the alkali group of metals with an atomic symbol K, atomic number 19, and atomic weight 39.10. It is the chief cation in the intracellular fluid of muscle and other cells. Potassium ion is a strong electrolyte that plays a significant role in the regulation of fluid volume and maintenance of the WATER-ELECTROLYTE BALANCE.
SodiumA member of the alkali group of metals. It has the atomic symbol Na, atomic number 11, and atomic weight 23.
WaterA clear, odorless, tasteless liquid that is essential for most animal and plant life and is an excellent solvent for many substances. The chemical formula is hydrogen oxide (H2O). (McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed)
OxygenAn element with atomic symbol O, atomic number 8, and atomic weight [15.99903; 15.99977]. It is the most abundant element on earth and essential for respiration.
cytarabineA pyrimidine nucleoside analog that is used mainly in the treatment of leukemia, especially acute non-lymphoblastic leukemia. Cytarabine is an antimetabolite antineoplastic agent that inhibits the synthesis of DNA. Its actions are specific for the S phase of the cell cycle. It also has antiviral and immunosuppressant properties. (From Martindale, The Extra Pharmacopoeia, 30th ed, p472)
uric acidAn oxidation product, via XANTHINE OXIDASE, of oxypurines such as XANTHINE and HYPOXANTHINE. It is the final oxidation product of purine catabolism in humans and primates, whereas in most other mammals URATE OXIDASE further oxidizes it to ALLANTOIN.
carnitineA constituent of STRIATED MUSCLE and LIVER. It is an amino acid derivative and an essential cofactor for fatty acid metabolism.
glutamate
adenosine triphosphateAn adenine nucleotide containing three phosphate groups esterified to the sugar moiety. In addition to its crucial roles in metabolism adenosine triphosphate is a neurotransmitter.
Cytidine MonophosphateCytidine (dihydrogen phosphate). A cytosine nucleotide containing one phosphate group esterified to the sugar moiety in the 2', 3' or 5' position.
BilirubinA bile pigment that is a degradation product of HEME.
Uridine Monophosphate5'-Uridylic acid. A uracil nucleotide containing one phosphate group esterified to the sugar moiety in the 2', 3' or 5' position.
Acetyl Coenzyme AAcetyl CoA participates in the biosynthesis of fatty acids and sterols, in the oxidation of fatty acids and in the metabolism of many amino acids. It also acts as a biological acetylating agent.
porphinestructure given in first source
glucoseA primary source of energy for living organisms. It is naturally occurring and is found in fruits and other parts of plants in its free state. It is used therapeutically in fluid and nutrient replacement.