Malaria Adss

Plasmodium falciparum

IMP--aspartate ligase; Adenylosuccinate synthase; AdSS; AMPSase

Adenylosuccinate synthetase family

Carbon-nitrogen ligase

Plays an important role in the salvage pathway for purine nucleotide biosynthesis. Catalyzes the first committed step in the biosynthesis of AMP from IMP.

Hypertension and brachydactyly syndrome (HTNB) [MIM:112410]: A syndrome characterized by brachydactyly type E, severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, and altered baroreflex blood pressure regulation. It results in death from stroke before age 50 years when untreated. Brachydactyly type E is characterized by shortening of the fingers mainly in the metacarpals and metatarsals. {ECO:0000269|PubMed:25961942}. The disease is caused by variants affecting the gene represented in this entry.

DB03510; DB04315; DB02109

NA

EC 6.3.4.4

3D-structure; Cytoplasm; GTP-binding; Ligase; Magnesium; Metal-binding; Nucleotide-binding; Purine biosynthesis

A

47877.9

424

0.09

31.72

7.63

1.58

-6.2

BCAT2

Homo sapiens (Human)

Placental protein 18; PP18; ECA39 protein; Branched-chain amino acid aminotransferase; BCAT2; BCAT(m); BCAT

Class-IV pyridoxal-phosphate-dependent aminotransferase family

Transaminase

Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine, isoleucine, and valine. May also function as a transporter of branched chain alpha-keto acids.

Hypervalinemia and hyperleucine-isoleucinemia (HVLI) [MIM:618850]: An autosomal recessive metabolic disorder characterized by highly elevated plasma concentrations of valine and leucine/isoleucine. Affected individuals suffer from headache and mild memory impairment. {ECO:0000269|PubMed:25653144}. The disease is caused by variants affecting the gene represented in this entry. A patient with hypervalinemia and hyperleucine-isoleucinemia was identified as compound heterozygote for Gln-170 (inherited from his father) and Lys-264 (inherited from his mother), both variants reduced the catalytic activity of the enzyme. After treatment with vitamin B6, a precursor of pyridoxal 5'-phosphate, a BCAT2 cofactor, the blood levels of branched chain amino acids, especially valine, were decreased and brain lesions were improved. {ECO:0000269|PubMed:25653144}.

DB04074; DB00142; DB00167; DB00149; DB02635; DB00114; DB02142

P10809

EC 2.6.1.42

3D-structure; Acetylation; Alternative splicing; Amino-acid biosynthesis; Aminotransferase; Branched-chain amino acid biosynthesis; Disease variant; Lipid metabolism; Mitochondrion; Proteomics identification; Pyridoxal phosphate; Reference proteome; Transferase; Transit peptide

A,B

40725

359

0.09

39.14

8.46

3.24

-6.2

TPH1

Homo sapiens (Human)

Tryptophan 5-monooxygenase 1; TRPH; TPRH

Biopterin-dependent aromatic amino acid hydroxylase family

Paired donor oxygen oxidoreductase

Responsible for addition of the -HO group (hydroxylation) to the 5 position to form the amino acid 5-hydroxytryptophan (5-HTP), which is the initial and rate-limiting step in the synthesis of the neurotransmitter serotonin.

Tyrosinemia 2 (TYRSN2) [MIM:276600]: An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, and oculocutaneous manifestations. Typical features include palmoplantar keratosis, painful corneal ulcers, and intellectual disability. {ECO:0000269|PubMed:1357662}. The disease is caused by variants affecting the gene represented in this entry.

DB05199; DB00360; DB12095; DB00150

Q14457; Q96IK1-2; Q9UKB3; Q9H8Y8; O43586; O95789-4

EC 1.14.16.4

3D-structure; Alternative splicing; Iron; Metal-binding; Monooxygenase; Oxidoreductase; Phosphoprotein; Proteomics identification; Reference proteome; Serotonin biosynthesis; Ubl conjugation

A

31138.2

271

0.13

43.43

6.73

-0.86

-6.2

ahpF

Salmonella typhimurium (strain LT2 / SGSC1412 / ATCC 700720)

NA

STM0609

Class-II pyridine nucleotide-disulfide oxidoreductase family

Oxidoreductase

Alkyl hydroperoxide reductase activity.Electron carrier activity.Flavin adenine dinucleotide binding.NAD binding.Protein disulfide oxidoreductase activity.

Glutathionuria (GLUTH) [MIM:231950]: A very rare, autosomal recessive metabolic disorder characterized by the presence of glutathione in the urine, due to generalized gamma-glutamyl transpeptidase deficiency. Most patients manifest mild to moderate intellectual disability, and behavioral disturbance. Seizures, tremor, marfanoid features and strabismus are observed in some patients. {ECO:0000269|PubMed:29483667}. The disease is caused by variants affecting the gene represented in this entry. A large homozygous deletion that removes several exons of all isoforms of GGT1 has been found in one family affected by glutathionuria. {ECO:0000269|PubMed:29483667}.

DB03147

NA

1.8.1.-

3D-structure; Direct protein sequencing; Disulfide bond; FAD; Flavoprotein; NAD; NADP; Oxidoreductase; Redox-active center; Reference proteome

A

55949.2

521

0.06

25.77

5.62

-9.6

-6.19

RRM2

Homo sapiens (Human)

NA

RR2

Ribonucleoside diphosphate reductase small chain family

Oxidoreductase

Metal ion binding.Ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor.

Pyruvate kinase hyperactivity (PKHYP) [MIM:102900]: Autosomal dominant phenotype characterized by increase of red blood cell ATP. {ECO:0000269|PubMed:9090535}. The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]: A frequent cause of hereditary non-spherocytic hemolytic anemia. Clinically, pyruvate kinase-deficient patients suffer from a highly variable degree of chronic hemolysis, ranging from severe neonatal jaundice and fatal anemia at birth, severe transfusion-dependent chronic hemolysis, moderate hemolysis with exacerbation during infection, to a fully compensated hemolysis without apparent anemia. {ECO:0000269|PubMed:10087985, ECO:0000269|PubMed:10772876, ECO:0000269|PubMed:11328279, ECO:0000269|PubMed:11960989, ECO:0000269|PubMed:1536957, ECO:0000269|PubMed:1896471, ECO:0000269|PubMed:19085939, ECO:0000269|PubMed:2018831, ECO:0000269|PubMed:21794208, ECO:0000269|PubMed:7706479, ECO:0000269|PubMed:8161798, ECO:0000269|PubMed:8180378, ECO:0000269|PubMed:8476433, ECO:0000269|PubMed:8481523, ECO:0000269|PubMed:8483951, ECO:0000269|PubMed:8664896, ECO:0000269|PubMed:8807089, ECO:0000269|PubMed:9075576, ECO:0000269|PubMed:9482576, ECO:0000269|PubMed:9827908, ECO:0000269|PubMed:9886305, ECO:0000269|Ref.24}. The disease is caused by variants affecting the gene represented in this entry.

DB00242; DB05260; DB05801; DB05003; DB05428

P41002; Q9UM11; P23921; O00560

1.17.4.1

3D-structure; Alternative splicing; Cytoplasm; Deoxyribonucleotide synthesis; Iron; Metal-binding; Nucleus; Oxidoreductase; Phosphoprotein; Proteomics identification; Reference proteome; Ubl conjugation

A,B,C,D

33579.4

286

0.14

43.7

5.12

-12.86

-6.19

NT5C2

Homo sapiens (Human)

NA

PNT5;NT5B;NT5CP

5'(3')-deoxyribonucleotidase family

Hydrolase

5'-nucleotidase activity.Metal ion binding.Nucleoside phosphotransferase activity.Nucleotide binding.

Spastic paraplegia 45, autosomal recessive (SPG45) [MIM:613162]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Some SPG45 patients manifest intellectual disability, contractures and learning disability. {ECO:0000269|PubMed:24482476, ECO:0000269|PubMed:28884889}. The disease is caused by variants affecting the gene represented in this entry.

DB00171; DB00811; DB06408

P48047; P51116; Q8IVS8; Q7L9L4; Q86TA1; Q70IA8; Q9Y5B8; Q6ZVK8; O00560; Q9NRS6

2.7.1.77; 3.1.3.5; 3.1.3.99

3D-structure; Allosteric enzyme; Alternative splicing; ATP-binding; Cytoplasm; Disease variant; Hereditary spastic paraplegia; Hydrolase; Magnesium; Metal-binding; Neurodegeneration; Nucleotide metabolism; Nucleotide-binding; Phosphoprotein; Proteomics identification; Reference proteome; Transferase

A

53978.4

467

0.14

30.87

8.25

3.41

-6.19

ACACA

Homo sapiens (Human)

NA

ACAC;ACCA;ACC1

NA

Ligase

Acetyl-CoA carboxylase activity.ATP binding.Biotin carboxylase activity.Identical protein binding.Metal ion binding.

Acetyl-CoA carboxylase-alpha deficiency (ACACAD) [MIM:613933]: An autosomal recessive inborn error of de novo fatty acid synthesis associated with severe brain damage, persistent myopathy and poor growth. {ECO:0000269|PubMed:6114432}. The disease is caused by variants affecting the gene represented in this entry.

DB00121

Q13085; O60218; P38398; Q96EB6; Q9CQ20; P02654; Q92915-2; Q6NTF9-3

6.4.1.2

3D-structure; Acetylation; Allosteric enzyme; Alternative promoter usage; ATP-binding; Biotin; Cytoplasm; Direct protein sequencing; Fatty acid biosynthesis; Fatty acid metabolism; Ligase; Lipid biosynthesis; Lipid metabolism; Magnesium; Manganese; Metal-binding; Multifunctional enzyme; Nucleotide-binding; Phosphoprotein; Proteomics identification; Reference proteome

A,B

54237.7

486

0.09

39.18

6.37

-2.46

-6.19

pamO

Thermobifida fusca (strain YX)

NA

Tfu_1490

FAD-binding monooxygenase family

Oxygenase

Phenylacetone monooxygenase activity.

LTC4 synthase deficiency is associated with a neurometabolic developmental disorder characterized by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly. {ECO:0000269|PubMed:10896305, ECO:0000269|PubMed:9820300}.

DB03147

NA

1.14.13.92

3D-structure; FAD; Flavoprotein; Monooxygenase; NADP; Oxidoreductase

A

60232

533

0.12

32.05

5.25

-17.1

-6.19

xecC

Xanthobacter autotrophicus (strain ATCC BAA-1158 / Py2)

NA

Xaut_4867

Class-I pyridine nucleotide-disulfide oxidoreductase family

Oxidoreductase

2-oxopropyl-CoM reductase (carboxylating) activity.Flavin adenine dinucleotide binding.

LTC4 synthase deficiency is associated with a neurometabolic developmental disorder characterized by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly. {ECO:0000269|PubMed:10896305, ECO:0000269|PubMed:9820300}.

DB03163; DB03147

NA

1.8.1.5

3D-structure; Disulfide bond; FAD; Flavoprotein; NADP; Oxidoreductase; Plasmid; Redox-active center; Reference proteome

A,B

114413

1044

0.08

25.66

5.68

-21.74

-6.2

CMA1

Homo sapiens (Human)

Mast cell protease I; CYH; Alpha-chymase

Peptidase S1 family, Granzyme subfamily

Peptidase

Major secreted protease of mast cells with suspected roles in vasoactive peptide generation, extracellular matrix degradation, and regulation of gland secretion.

Weaver syndrome (WVS) [MIM:277590]: A syndrome of accelerated growth and osseous maturation, unusual craniofacial appearance, hoarse and low-pitched cry, and hypertonia with camptodactyly. Distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bone development is advanced over the rest of the hand. {ECO:0000269|PubMed:22177091, ECO:0000269|PubMed:22190405, ECO:0000269|PubMed:23239504, ECO:0000269|PubMed:26694085, ECO:0000269|PubMed:28229514}. The disease is caused by variants affecting the gene represented in this entry.

DB03814; DB04016; DB07680; DB03297

NA

EC 3.4.21.39

3D-structure; Alternative splicing; Direct protein sequencing; Disulfide bond; Glycoprotein; Hydrolase; Protease; Proteomics identification; Reference proteome; Secreted; Serine protease; Signal; Zymogen

A

23715.1

215

0.07

37.79

9.51

11.49

-6.19

SERPINA1

Homo sapiens (Human)

SERPINA1; PRO0684/PRO2209; Alpha1-proteinase; Alpha-1-antiproteinase; Alpha-1 protease inhibitor

Serpin family

Serpin protein

Inhibitor of serine proteases. Its primary target is elastase, but it also has a moderate affinity for plasmin and thrombin.

Alpha-1-antitrypsin deficiency (A1ATD) [MIM:613490]: A disorder whose most common manifestation is emphysema, which becomes evident by the third to fourth decade. A less common manifestation of the deficiency is liver disease, which occurs in children and adults, and may result in cirrhosis and liver failure. Environmental factors, particularly cigarette smoking, greatly increase the risk of emphysema at an earlier age. {ECO:0000269|PubMed:1905728, ECO:0000269|PubMed:2227940, ECO:0000269|PubMed:2390072}. The disease is caused by variants affecting the gene represented in this entry.

DB01998; DB09130; DB00080; DB03345; DB14007; DB05961; DB05481; DB01593; DB14487; DB14533; DB14548

Q9Y282; Q8N7X4; P01009; P43307; O15393; P00772; P71213; P00760

NA

3D-structure; Acute phase; Alternative splicing; Blood coagulation; Direct protein sequencing; Endoplasmic reticulum; Extracellular matrix; Glycoprotein; Hemostasis; Phosphoprotein; Protease inhibitor; Proteomics identification; Reference proteome; Secreted; Serine protease inhibitor; Signal

A

41542.2

370

0.09

30.24

5.56

-9.66

-6.2

CLCN7

Homo sapiens (Human)

H(+)/Cl(-) exchange transporter 7; ClC-7; Chloride channel 7 alpha subunit

Chloride channel (TC 2.A.49) family, ClC-7/CLCN7 subfamily

Chloride channel

Slowly voltage-gated channel mediating the exchange of chloride ions against protons. Functions as antiporter and contributes to the acidification of the lysosome lumen.

Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490]: A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. {ECO:0000269|PubMed:11207362, ECO:0000269|PubMed:11741829, ECO:0000269|PubMed:14584882, ECO:0000269|PubMed:17033731, ECO:0000269|PubMed:19953639, ECO:0000269|PubMed:26395888, ECO:0000269|PubMed:26477479}. The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Osteopetrosis, autosomal dominant 2 (OPTA2) [MIM:166600]: A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. It is characterized by sclerosis, predominantly involving the spine, the pelvis and the skull base. {ECO:0000269|PubMed:11741829, ECO:0000269|PubMed:14584882, ECO:0000269|PubMed:19288050, ECO:0000269|PubMed:19953639, ECO:0000269|PubMed:26395888}. The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Hypopigmentation, organomegaly, and delayed myelination and development (HOD) [MIM:618541]: An autosomal dominant pleiotropic syndrome characterized by skin and hair hypopigmentation, growth and developmental delay, organomegaly including enlarged liver, spleen and kidneys, delayed brain myelination and developmental deficit in motor skills. Skin and liver biopsies show cellular accumulation of large intracellular vacuoles. {ECO:0000269|PubMed:31155284}. The disease is caused by variants affecting the gene represented in this entry.

NA

Q6P5T0; P19397; Q8TB36; O00258; Q53GS7; Q9UGI6-2; Q8TAF8; Q9Y5Y7; P35372-10; Q86WC4; Q9NVC3; Q8N2U9; Q7Z699; Q96MV1; Q7Z7N9

NA

3D-structure; Alternative splicing; Antiport; ATP-binding; CBS domain; Chloride; Disease variant; Ion transport; Lysosome; Membrane; Nucleotide-binding; Osteopetrosis; Phosphoprotein; Proteomics identification; Reference proteome; Repeat; Transmembrane; Transmembrane helix; Transport

C

75175

681

0.11

38.7

8.88

8.95

-6.2

DHPS

Homo sapiens (Human)

DHS

Deoxyhypusine synthase family

Alkyl aryl transferase

Catalyzes the NAD-dependent oxidativecleavage of spermidine and the subsequent transfer of the butylamine moiety of spermidine to the epsilon-amino group of a specific lysine residue of the eIF-5A precursor protein to form the intermediate deoxyhypusine residue.

Neurodevelopmental disorder with seizures and speech and walking impairment (NEDSSWI) [MIM:618480]: An autosomal recessive disorder characterized by global developmental delay with intellectual disability and poor speech acquisition, and walking difficulties due to hypotonia, hypertonia, spasticity, or poor coordination. Additional features include seizures, mild dysmorphic features, and variable short stature. {ECO:0000269|PubMed:30661771}. The disease is caused by variants affecting the gene represented in this entry.

DB03639

Q53QZ3; P49366; P63241; Q9GZV4; Q8TBB1; P27361; Q6FHY5; Q9GZT8; Q96HA8; Q6ZVK8; P26367; Q9HD43; O00194; P09455; Q04864; Q04864-2; P32969; Q7L8A9; P52744; P52744-2

EC 2.5.1.46

3D-structure; Alternative splicing; Direct protein sequencing; Disease variant; Hypusine biosynthesis; Intellectual disability; NAD; Phosphoprotein; Proteomics identification; Reference proteome; Transferase

A,B

76663.5

692

0.09

36.19

5.35

-15.99

-6.19

FDPS

Homo sapiens (Human)

KIAA1293; Geranylgeranyl pyrophosphate synthase; Geranylgeranyl diphosphate synthase; GGPS1; GGPPSase; GGPP synthase; Farnesyltranstransferase; Farnesyl pyrophosphate synthase; Farnesyl diphosphate sy

FPP/GGPP synthase family

Alkyl aryl transferase

FPP also serves as substrate for protein farnesylation and geranylgeranylation. Catalyzes the sequential condensation of isopentenyl pyrophosphate with the allylic pyrophosphates, dimethylallyl pyrophosphate, and then with the resultant geranylpyrophosphate to the ultimate product farnesyl pyrophosphate. Key enzyme in isoprenoid biosynthesis which catalyzes the formation of farnesyl diphosphate (FPP), a precursor for several classes of essential metabolites including sterols, dolichols, carotenoids, and ubiquinones.

Porokeratosis 9, multiple types (POROK9) [MIM:616631]: A form of porokeratosis, a disorder of faulty keratinization characterized by one or more atrophic patches surrounded by a distinctive hyperkeratotic ridgelike border called the cornoid lamella. The keratotic lesions can progress to overt cutaneous neoplasms, typically squamous cell carcinomas. Multiple clinical variants of porokeratosis are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis. Different clinical presentations can be observed among members of the same family. Individuals expressing more than one variant have also been reported. {ECO:0000269|PubMed:26202976}. The disease is caused by variants affecting the gene represented in this entry.

DB00630; DB01785; DB07780; DB02552; DB07841; DB00710; DB06255; DB04714; DB02508; DB06548; DB00282; DB00884; DB00399

O95870; P54253; Q6ZMZ0; Q9BRI3; Q8WWF3

EC 2.5.1.10

3D-structure; Acetylation; Alternative splicing; Cholesterol biosynthesis; Cholesterol metabolism; Cytoplasm; Disease variant; Host-virus interaction; Hydroxylation; Isoprene biosynthesis; Lipid biosynthesis; Lipid metabolism; Magnesium; Metal-binding; Proteomics identification; Reference proteome; Steroid biosynthesis; Steroid metabolism; Sterol biosynthesis; Sterol metabolism; Transferase

A

38705

338

0.12

44.66

5.1

-9.92

-6.19

AKR1B1

Homo sapiens (Human)

Aldehyde reductase; AKR1B1

Aldo/keto reductase family

Short-chain dehydrogenases reductase

Catalyzes the NADPH-dependent reduction of a wide variety of carbonyl-containing compounds to their corresponding alcohols with a broad range of catalytic efficiencies.

Glutamine deficiency, congenital (GLND) [MIM:610015]: An autosomal recessive disorder characterized by variable brain malformations, encephalopathy, severe developmental delay, seizures, and decreased glutamine levels in bodily fluids. Death in early infancy may occur. {ECO:0000269|PubMed:16267323, ECO:0000269|PubMed:26711351, ECO:0000269|PubMed:38579670}. The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Developmental and epileptic encephalopathy 116 (DEE116) [MIM:620806]: A form of epileptic encephalopathy, a heterogeneous group of early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE116 is autosomal dominant form characterized by severe developmental delay, seizures, and white matter abnormalities. {ECO:0000269|PubMed:38579670}. The disease is caused by variants affecting the gene represented in this entry. DEE116 is caused by variants that disrupt the canonical translation start codon in GLUL resulting in initiation of translation at Met-18 (PubMed:38579670). The resulting protein is enzymatically competent but insensitive to negative feedback regulation via glutamine-induced degradation. {ECO:0000269|PubMed:38579670}.

DB07028; DB07030; DB07450; DB02101; DB08449; DB08000; DB07139; DB07498; DB02007; DB02020; DB11859; DB02994; DB04272; DB07187; DB00694; DB00997; DB06246; DB01039; DB02021; DB16707; DB00143; DB02834; DB08084; DB01689; DB07063; DB06077; DB02518; DB00157; DB03461; DB05383; DB05533; DB05327; DB02712; DB00605; DB02383; DB02132; DB08772; DB07093; DB07999; DB08098

Q9BUY7

EC 1.1.1.300

3D-structure; Acetylation; Cytoplasm; Direct protein sequencing; Lipid metabolism; NADP; Oxidoreductase; Phosphoprotein; Proteomics identification; Reference proteome

A

35447.6

313

0.09

36.41

7.1

0.26

-6.19

treA

Escherichia coli (strain K12)

NA

JW1186;osmA;b1197

Glycosyl hydrolase 37 family

NA

Provides the cells with the ability to utilize trehalose at high osmolarity by splitting it into glucose molecules that can subsequently be taken up by the phosphotransferase-mediated uptake system.

SRC kinase activity has been shown to be increased in several tumor tissues and tumor cell lines such as colon carcinoma cells. {ECO:0000269|PubMed:2498394, ECO:0000269|PubMed:3093483}.; DISEASE: Thrombocytopenia 6 (THC6) [MIM:616937]: A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC6 is an autosomal dominant form. Affected individuals may also have bone abnormalities and an increased risk for myelofibrosis. {ECO:0000269|PubMed:26936507}. The disease is caused by variants affecting the gene represented in this entry.

NA

NA

3.2.1.28

3D-structure; Direct protein sequencing; Glycosidase; Hydrolase; Periplasm; Reference proteome; Signal

A

57508.9

507

0.11

48.32

5.48

-10.13

-6.2

CA3

Homo sapiens (Human)

NA

NA

Alpha-carbonic anhydrase family

Lyase

Carbonate dehydratase activity.Nickel cation binding.Phosphatase activity.Zinc ion binding.

Cortical dysplasia, complex, with other brain malformations 6 (CDCBM6) [MIM:615771]: A disorder of aberrant neuronal migration and disturbed axonal guidance. Affected individuals have microcephaly, ataxia, and severe delayed psychomotor development. Brain imaging shows variable malformations of cortical development, including white matter streaks, dysmorphic basal ganglia, corpus callosum abnormalities, brainstem and cerebellar hypoplasia, cortical dysplasia, polymicrogyria. {ECO:0000269|PubMed:23246003}. The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Skin creases, congenital symmetric circumferential, 1 (CSCSC1) [MIM:156610]: An autosomal dominant disease characterized by multiple, symmetric, circumferential rings of folded skin, affecting primarily the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features. {ECO:0000269|PubMed:26637975}. The disease is caused by variants affecting the gene represented in this entry.

DB00819; DB00562; DB01194; DB00482; DB00606; DB01144; DB00869; DB08846; DB00311; DB00703; DB12418; DB00391; DB00273; DB00580; DB00909

P37235; Q9BS40

4.2.1.1

3D-structure; Acetylation; Cytoplasm; Glutathionylation; Lyase; Metal-binding; Phosphoprotein; Proteomics identification; Reference proteome; Zinc

A

29416.7

259

0.11

38.2

6.71

-1.07

-6.19

DBH

Homo sapiens (Human)

NA

NA

Copper type II ascorbate-dependent monooxygenase family

Oxidoreductase

Catalytic activity.Copper ion binding.Dopamine beta-monooxygenase activity.L-ascorbic acid binding.

Orthostatic hypotension 1 (ORTHYP1) [MIM:223360]: A form of orthostatic hypotension due to congenital dopamine beta-hydroxylase deficiency. Orthostatic hypotension, also known as postural hypotension, is a finding defined as a 20-mm Hg decrease in systolic pressure or a 10-mm Hg decrease in diastolic pressure occurring 3 minutes after a person has risen from supine to standing. Symptoms include dizziness, blurred vision, and sometimes syncope. ORTHYP1 is an autosomal recessive condition apparent from infancy or early childhood and characterized by low plasma and urinary levels of norepinephrine and epinephrine, and episodic hypoglycemia. {ECO:0000269|PubMed:11857564}. The disease is caused by variants affecting the gene represented in this entry.

DB00126; DB06774; DB09130; DB05394; DB00822; DB00988; DB00968; DB00550

P00352; P63010-2; Q04656; Q8WUW1; Q9UNS2; Q71DI3; P61978; Q9Y2M5; Q92876; P08727; Q14693; P0DPK4; Q6GQQ9-2; P27986-2; Q9ULX5; Q96D59; Q8N6K7-2; Q9GZS3; Q8IUW3; Q86WT6-2

1.14.17.1

3D-structure; Catecholamine biosynthesis; Copper; Cytoplasmic vesicle; Direct protein sequencing; Disease variant; Disulfide bond; Glycoprotein; Membrane; Metal-binding; Monooxygenase; Oxidoreductase; Proteomics identification; Reference proteome; Secreted; Signal-anchor; Transmembrane; Transmembrane helix; Vitamin C

A,B

123694

1094

0.1

51.85

5.84

-24.5

-6.2

ASL

Homo sapiens (Human)

NA

NA

Lyase 1 family, Argininosuccinate lyase subfamily

Lyase

Argininosuccinate lyase activity.Identical protein binding.

Argininosuccinic aciduria (ARGINSA) [MIM:207900]: An autosomal recessive disorder of the urea cycle. The disease is characterized by mental and physical retardation, liver enlargement, skin lesions, dry and brittle hair showing trichorrhexis nodosa microscopically and fluorescing red, convulsions, and episodic unconsciousness. {ECO:0000269|PubMed:11747432, ECO:0000269|PubMed:11747433, ECO:0000269|PubMed:12408190, ECO:0000269|PubMed:1705937, ECO:0000269|PubMed:17326097, ECO:0000269|PubMed:19703900, ECO:0000269|PubMed:22081021, ECO:0000269|PubMed:2263616, ECO:0000269|PubMed:24166829, ECO:0000269|PubMed:9045711}. The disease is caused by variants affecting the gene represented in this entry. The phenotype heterogeneity among patients is associated with interallelic complementation resulting in either complete loss of activity or partial regeneration of functional active sites in the heterotetrameric mutant protein. {ECO:0000269|PubMed:11747433}.

DB03814; DB00125; DB02267

P04424; Q9BTE3-2; Q96HA8; O75382

4.3.2.1

3D-structure; Acetylation; Alternative splicing; Amino-acid biosynthesis; Arginine biosynthesis; Disease variant; Lyase; Proteomics identification; Reference proteome; Urea cycle

A,B

51364.1

459

0.08

35.82

6.66

-1.25

-6.19