Pathways

PathWhiz ID Pathway Meta Data

PW126201

Pw126201 View Pathway
metabolic

1-Methylhistidine Metabolism

Homo sapiens
Methylhistidine is a modified amino acid that is produced in myocytes during the methylation of actin and myosin. It is also formed from the methylation of L-histidine, which takes the methyl group from S-adenosylmethionine and forms S-adenosylhomocysteine as a byproduct. After its formation in the myocytes, methylhistidine enters the blood stream and travels to the kidneys, where it is excreted in the urine. Methylhistidine is present in the blood and urine in higher concentrations after skeletal muscle protein breakdown, which can occur due to disease or injury. Because of this, it can be used to judge how much muscle breakdown is occurring. Methylhistidine levels are also affected by diet, and may differ between vegetarian diets and those containing meats.

PW126354

Pw126354 View Pathway
metabolic

1-Methylhistidine synthesis via METTL9-catalyzed methylation

Homo sapiens

PW064700

Pw064700 View Pathway
signaling

1.      Barrier

Homo sapiens

PW000551

Pw000551 View Pathway
disease

11-beta-Hydroxylase Deficiency (CYP11B1)

Homo sapiens
11-beta-Hydroxylase Deficiency, also called congenital adrenal hyperplasia (CAH), is an autosomal recessive disorder and caused by a defective 11-beta-hydroxylase. 11-beta-hydroxylase catalyzes the conversion of cortexolone into cortisol which is useful for maintaining blood sugar levels and suppressing inflammation. This disorder is characterized by a large accumulation of cortexolone in the endoplasmic reticulum (ER). Symptoms of the disorder include abnormality of hair growth rate and menstrual cycle. It is estimated that 11-beta-hydroxylase deficiency affects 1 in 100,000 to 200,000 newborns.

PW122119

Pw122119 View Pathway
disease

11-beta-Hydroxylase Deficiency (CYP11B1)

Rattus norvegicus
11-beta-Hydroxylase Deficiency, also called congenital adrenal hyperplasia (CAH), is an autosomal recessive disorder and caused by a defective 11-beta-hydroxylase. 11-beta-hydroxylase catalyzes the conversion of cortexolone into cortisol which is useful for maintaining blood sugar levels and suppressing inflammation. This disorder is characterized by a large accumulation of cortexolone in the endoplasmic reticulum (ER). Symptoms of the disorder include abnormality of hair growth rate and menstrual cycle. It is estimated that 11-beta-hydroxylase deficiency affects 1 in 100,000 to 200,000 newborns.

PW121895

Pw121895 View Pathway
disease

11-beta-Hydroxylase Deficiency (CYP11B1)

Mus musculus
11-beta-Hydroxylase Deficiency, also called congenital adrenal hyperplasia (CAH), is an autosomal recessive disorder and caused by a defective 11-beta-hydroxylase. 11-beta-hydroxylase catalyzes the conversion of cortexolone into cortisol which is useful for maintaining blood sugar levels and suppressing inflammation. This disorder is characterized by a large accumulation of cortexolone in the endoplasmic reticulum (ER). Symptoms of the disorder include abnormality of hair growth rate and menstrual cycle. It is estimated that 11-beta-hydroxylase deficiency affects 1 in 100,000 to 200,000 newborns.

PW122336

Pw122336 View Pathway
metabolic

11-cis-3-Hydroxyretinal Biosynthesis

Drosophila melanogaster
(3S)-11-cis-3-hydroxyretinal is one of three chromophores, which then associate with rhodopsins. Specifically, this chromophore associates with the Rh1 rhodopsin, a blue/green sensitive visual pigment found in 6 of the 8 photoreceptor cells in Drosophila melanogaster. The production of this chromophore begins with zeaxanthin obtained from Drosophila’s dietary sources. This lipid is broken down into (3R)-11-cis-3-hydroxyretinal and (3R)-all-trans-3-hydroxyretinal by a carotenoid isomerooxygenase. The (3R)-cis-3-hydroxyretinal is then attached to a retinoid binding protein, and this complex goes on to be used in the visual cycle of the organism. However, (3R)-all-trans-3-hydroxyretinal must be further processed. It too binds to a retinoid binding protein that will remain unchanged through the rest of the reactions. First, this complex will have a hydrogen added by a photoreceptor dehydrogenase in order to form (3R)-all-trans-3-hydroxyretinol, and then a photoreceptor epimerase will invert its stereochemistry to form (3S)-all-trans-3-hydroxyretinol. From here, an unknown protein, an oxidoreductase that transposes C=C bonds, will form (3S)-11-cis-3-hydroxyretinol. Finally, another photoreceptor dehydrogenase removes a hydrogen from that complex, forming the final product, (3S)-11-cis-3-hydroxyretinal. This complex then joins (3R)-11-cis-3-hydroxyretinal in the visual cycle.

PW000542

Pw000542 View Pathway
disease

17-alpha-Hydroxylase Deficiency (CYP17)

Homo sapiens
17-alpha-hydroxylase deficiency, also known as congenital adrenal hyperplasia (CAH) due to 17-alpha-hydroxylase deficiency or congenital adrenal hyperplasia type 5, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of the steroidogenesis pathway. It is caused by a mutation in the CYP17A1 gene which encodes the enzyme steroid 17-alpha-hydroxylase. This enzyme hydroxylates both progesterone and pregnenolone into 17-hydroxyprogesterone and 17a-hydroxypregnenolone respectively in the mitochondria, as well as hydroxylating 21-deoxycortisol to 11b-hydroxyprogesterone within the endoplasmic reticulum. When mutated, it leads to an accumulation of pregnenolone, progesterone, deoxycorticosterone and 11-dehydrocorticosterone throughout the cell. 17-alpha hydroxylase deficiency is characterized by a deficiency of sex steroids, as well as glucocorticoids. Symptoms include male undervirilization, as well as lack of development during puberty including amenorrhea for females. Low levels of potassium in the blood due to the increased levels of mineralocorticoids can occur, as well as hypertension. Treatment with dexamethasone has been able to normalize blood pressure and blood potassium levels. It is estimated that 17-alpha-hydroxylase deficiency affects 1 in 1,000,000 individuals.

PW121886

Pw121886 View Pathway
disease

17-alpha-Hydroxylase Deficiency (CYP17)

Mus musculus
17-alpha-hydroxylase deficiency, also known as congenital adrenal hyperplasia (CAH) due to 17-alpha-hydroxylase deficiency or congenital adrenal hyperplasia type 5, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of the steroidogenesis pathway. It is caused by a mutation in the CYP17A1 gene which encodes the enzyme steroid 17-alpha-hydroxylase. This enzyme hydroxylates both progesterone and pregnenolone into 17-hydroxyprogesterone and 17a-hydroxypregnenolone respectively in the mitochondria, as well as hydroxylating 21-deoxycortisol to 11b-hydroxyprogesterone within the endoplasmic reticulum. When mutated, it leads to an accumulation of pregnenolone, progesterone, deoxycorticosterone and 11-dehydrocorticosterone throughout the cell. 17-alpha hydroxylase deficiency is characterized by a deficiency of sex steroids, as well as glucocorticoids. Symptoms include male undervirilization, as well as lack of development during puberty including amenorrhea for females. Low levels of potassium in the blood due to the increased levels of mineralocorticoids can occur, as well as hypertension. Treatment with dexamethasone has been able to normalize blood pressure and blood potassium levels. It is estimated that 17-alpha-hydroxylase deficiency affects 1 in 1,000,000 individuals.

PW122110

Pw122110 View Pathway
disease

17-alpha-Hydroxylase Deficiency (CYP17)

Rattus norvegicus
17-alpha-hydroxylase deficiency, also known as congenital adrenal hyperplasia (CAH) due to 17-alpha-hydroxylase deficiency or congenital adrenal hyperplasia type 5, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of the steroidogenesis pathway. It is caused by a mutation in the CYP17A1 gene which encodes the enzyme steroid 17-alpha-hydroxylase. This enzyme hydroxylates both progesterone and pregnenolone into 17-hydroxyprogesterone and 17a-hydroxypregnenolone respectively in the mitochondria, as well as hydroxylating 21-deoxycortisol to 11b-hydroxyprogesterone within the endoplasmic reticulum. When mutated, it leads to an accumulation of pregnenolone, progesterone, deoxycorticosterone and 11-dehydrocorticosterone throughout the cell. 17-alpha hydroxylase deficiency is characterized by a deficiency of sex steroids, as well as glucocorticoids. Symptoms include male undervirilization, as well as lack of development during puberty including amenorrhea for females. Low levels of potassium in the blood due to the increased levels of mineralocorticoids can occur, as well as hypertension. Treatment with dexamethasone has been able to normalize blood pressure and blood potassium levels. It is estimated that 17-alpha-hydroxylase deficiency affects 1 in 1,000,000 individuals.