Showing entry for Solute carrier family 12 member 1


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT013383
Protein NameSolute carrier family 12 member 1
Uniport IdQ13621
GeneSLC12A1
Gene Id6557
Domain_permease; _permease_N; SLC12
Pfam PF00324   PF08403   PF03522  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0006884 cell volume homeostasis
Biological Process GO:0055064 chloride ion homeostasis
Biological Process GO:1902476 chloride transmembrane transport
Biological Process GO:0034220 ion transmembrane transport
Biological Process GO:0006811 ion transport
Biological Process GO:0055075 potassium ion homeostasis
Biological Process GO:1990573 potassium ion import across plasma membrane
Biological Process GO:0055078 sodium ion homeostasis
Biological Process GO:0035725 sodium ion transmembrane transport
molecular function GO:0015379 potassium:chloride symporter activity
molecular function GO:0015378 sodium:chloride symporter activity
molecular function GO:0008511 sodium:potassium:chloride symporter activity
molecular function GO:0015081 sodium ion transmembrane transporter activity
cellular component GO:0016324 apical plasma membrane
cellular component GO:0070062 extracellular exosome
cellular component GO:0016021 integral component of membrane
cellular component GO:0016020 membrane
cellular component GO:0005886 plasma membrane
Reactome
Pathway Id Pathway Name
R-HSA-1643685 Disease
R-HSA-382551 Transport of small molecules
R-HSA-425393 Transport of inorganic cations/anions and amino acids/oligopeptides
R-HSA-425407 SLC-mediated transmembrane transport
R-HSA-426117 Cation-coupled Chloride cotransporters
R-HSA-5619102 SLC transporter disorders
R-HSA-5619104 Defective SLC12A1 causes Bartter syndrome 1 (BS1)
R-HSA-5619115 Disorders of transmembrane transporters
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0001418 BXGD000050 Adenocarcinoma Neoplasms
C0001430 BXGD000054 Adenoma Neoplasms
C0002063 BXGD000099 Alkalosis Nutritional and Metabolic Diseases
C0004775 BXGD000290 Bartter Disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
C0006111 BXGD000369 Brain Diseases Nervous System Diseases
C0009806 BXGD000633 Constipation Pathological Conditions, Signs and Symptoms
C0011175 BXGD000701 Dehydration Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
C0011881 BXGD000760 Diabetic Nephropathy Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
C0011991 BXGD000766 Diarrhea Pathological Conditions, Signs and Symptoms
C0013336 BXGD000815 Dwarfism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C0014544 BXGD000926 Epilepsy Nervous System Diseases
C0015544 BXGD001003 Failure to Thrive Pathological Conditions, Signs and Symptoms
C0015967 BXGD001030 Fever Pathological Conditions, Signs and Symptoms
C0017668 BXGD001143 Focal glomerulosclerosis Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0020179 BXGD001363 Huntington Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
C0020224 BXGD001366 Polyhydramnios Female Urogenital Diseases and Pregnancy Complications
C0020428 BXGD001377 Hyperaldosteronism Endocrine System Diseases
C0020437 BXGD001381 Hypercalcemia Nutritional and Metabolic Diseases
C0020438 BXGD001382 Hypercalciuria Pathological Conditions, Signs and Symptoms
C0020488 BXGD001402 Hypernatremia Nutritional and Metabolic Diseases
C0020502 BXGD001410 Hyperparathyroidism Endocrine System Diseases
C0020538 BXGD001422 Hypertensive disease Cardiovascular Diseases
C0020544 BXGD001426 Renal hypertension Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases
C0020621 BXGD001449 Hypokalemia Nutritional and Metabolic Diseases
C0022658 BXGD001570 Kidney Diseases Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0024141 BXGD001740 Lupus Erythematosus, Systemic Skin and Connective Tissue Diseases; Immune System Diseases
C0027651 BXGD002009 Neoplasms Neoplasms
C0027709 BXGD002026 Nephrocalcinosis Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0029453 BXGD002154 Osteopenia Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C0029456 BXGD002157 Osteoporosis Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C0029463 BXGD002160 Osteosarcoma Neoplasms
C0030554 BXGD002239 Paresthesia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0032617 BXGD002367 Polyuria Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0037290 BXGD002683 Skin Pigmentation
C0037763 BXGD002699 Spasm Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0039621 BXGD002824 Tetany Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases
C0042963 BXGD003018 Vomiting Pathological Conditions, Signs and Symptoms
C0085570 BXGD003186 Hypokalemic alkalosis Nutritional and Metabolic Diseases
C0085580 BXGD003191 Essential Hypertension Cardiovascular Diseases
C0085680 BXGD003236 Hypochloremia (disorder) Nutritional and Metabolic Diseases
C0149939 BXGD003390 Obstructive nephropathy Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0151526 BXGD003432 Premature Birth Female Urogenital Diseases and Pregnancy Complications
C0151723 BXGD003466 Hypomagnesemia Nutritional and Metabolic Diseases
C0152013 BXGD003516 Adenocarcinoma of lung (disorder) Neoplasms
C0162283 BXGD003927 Nephrogenic Diabetes Insipidus Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0220983 BXGD004350 Metabolic alkalosis Nutritional and Metabolic Diseases
C0221002 BXGD004360 Hyperparathyroidism, Primary Endocrine System Diseases
C0232831 BXGD004564 Impairment of urinary concentration Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0235991 BXGD004802 Small for gestational age (disorder) Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
C0240783 BXGD005054 Increased circulating renin level
C0268450 BXGD005951 Gitelman Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0271561 BXGD006213 Somatotropin deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
C0279626 BXGD006657 Squamous cell carcinoma of esophagus Digestive System Diseases; Neoplasms
C0302511 BXGD006849 Small for gestational age fetus Pathological Conditions, Signs and Symptoms
C0348460 BXGD007873 Other hyperaldosteronism Endocrine System Diseases
C0349588 BXGD007933 Short stature
C0392525 BXGD008052 Nephrolithiasis Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0424295 BXGD008524 Hyperactive behavior Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0523465 BXGD009209 Serum albumin measurement
C0543800 BXGD009294 Idiopathic hypercalciuria Pathological Conditions, Signs and Symptoms
C0553730 BXGD009417 Calcium pyrophosphate deposition disease Musculoskeletal Diseases
C0557874 BXGD009444 Global developmental delay
C0595901 BXGD009624 Serum chloride level decreased (finding) Nutritional and Metabolic Diseases
C0740898 BXGD010014 Hypokalemic metabolic alkalosis
C0746674 BXGD010147 Generalized muscle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C1846343 BXGD014799 Bartter syndrome, type 3 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
C1846345 BXGD014801 Hyperactive renin-angiotensin system
C1846347 BXGD014802 Renal salt wasting
C1846348 BXGD014803 Renal potassium wasting
C1846351 BXGD014804 Increased urinary potassium
C1846352 BXGD014805 Hyperchloriduria
C1865279 BXGD016303 Fetal polyuria
C1866495 BXGD016402 Bartter syndrome, antenatal type 1 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
C1866496 BXGD016403 Renal juxtaglomerular cell hypertrophy/hyperplasia
C1866498 BXGD016404 Hyperprostaglandinuria
C1866500 BXGD016405 Low-to-normal blood pressure Cardiovascular Diseases
C2315100 BXGD017021 Pediatric failure to thrive Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders
C2919142 BXGD017867 Short Stature, CTCAE
C3150358 BXGD018303 Increased serum prostaglandin E2
C3469605 BXGD018917 PSEUDOHYPOALDOSTERONISM, TYPE IID Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3887638 BXGD019906 Failure to thrive in infant Pathological Conditions, Signs and Symptoms
C4288936 BXGD022490 Hyperkalemic Mineralocorticoid Resistance
C4317109 BXGD022725 Epileptic Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4552811 BXGD023526 Generalized Muscle Weakness, CTCAE
C4552839 BXGD023527 Hypomagnesemia, CTCAE
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0037718 Ethacrynic Acid 302.01
The  target protein-related  foods
Foods
BXGF Id Food Name Scientific Name Food Group Number of compound? Number of compound in food, higher numbers indicate the food are more associated with the protein