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  2. CPS1 - carbamoyl-phosphate synthase 1 Gene

CPS1 - carbamoyl-phosphate synthase 1 Gene

中文名称:氨基甲酰磷酸合酶 1

种属: Homo sapiens

同用名: PHN; GATD6; CPSASE1

基因 ID: 1373 | 基因类型: protein coding

关于 CPS1

Cytogenetic location: 2q34 Genomic coordinates (GRCh38): 2:210,477,685-210,679,107 (from NCBI)

This gene has 15 transcripts (splice variants), 196 orthologues, 2 paralogues and is associated with 4 phenotypes. Biased expression in liver (RPKM 281.3), duodenum (RPKM 102.6) and 1 other tissue.

功能概要

由该基因编码的线粒体酶催化氨和碳酸氢盐合成氨基甲酰磷酸。该反应是尿素循环的第一个关键步骤,这对于从细胞中去除多余的尿素很重要。编码的蛋白质也可以代表核心线粒体类核蛋白。已发现该基因的三个转录变体编码不同的亚型。最短的亚型可能不会定位于线粒体。该基因的突变与氨基甲酰磷酸合成酶缺乏症、对持续性肺动脉高压的易感性以及骨髓移植后对静脉闭塞性疾病的易感性有关。[RefSeq 提供,2010 年 5 月]

The mitochondrial Enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This reaction is the first committed step of the urea cycle, which is important in the removal of excess urea from cells. The encoded protein may also represent a core mitochondrial nucleoid protein. Three transcript variants encoding different isoforms have been found for this gene. The shortest isoform may not be localized to the mitochondrion. Mutations in this gene have been associated with carbamoyl phosphate synthetase deficiency, susceptibility to persistent pulmonary hypertension, and susceptibility to venoocclusive disease after bone marrow transplantation.[provided by RefSeq, May 2010]

CPS1 基因产物(4)

mRNA Protein Name
NM_001122633.3 NP_001116105.2 carbamoyl-phosphate synthase [ammonia], mitochondrial isoform b precursor
NM_001369256.1 NP_001356185.1 carbamoyl-phosphate synthase [ammonia], mitochondrial isoform d
NM_001369257.1 NP_001356186.1 carbamoyl-phosphate synthase [ammonia], mitochondrial isoform b precursor
NM_001875.5 NP_001866.2 carbamoyl-phosphate synthase [ammonia], mitochondrial isoform b precursor

CPS1 蛋白结构

CPSase_sm_chain

CPSase_sm_chain: Carbamoyl-phosphate synthase small chain, CPSase domain (45 - 183)

GATase

GATase: Glutamine amidotransferase class-I (222 - 395)

Biotin_carb_N

Biotin_carb_N: Biotin carboxylase, N-terminal domain (422 - 541)

CPSase_L_D2

CPSase_L_D2: Carbamoyl-phosphate synthase L chain, ATP binding domain (546 - 749)

CPSase_L_D3

CPSase_L_D3: Carbamoyl-phosphate synthetase large chain, oligomerisation domain (840 - 962)

Biotin_carb_N

Biotin_carb_N: Biotin carboxylase, N-terminal domain (976 - 1082)

CPSase_L_D2

CPSase_L_D2: Carbamoyl-phosphate synthase L chain, ATP binding domain (1088 - 1290)

MGS

MGS: MGS-like domain (1374 - 1465)

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蛋白主名 其他名称

carbamoyl-phosphate synthase [ammonia], mitochondrial

carbamoyl-phosphate synthase (ammonia)

重组 CPS1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71445 CPS1/CPSase I Protein, Human (His) P31327 (1354G-1500A) ≥95%

关联疾病

疾病名称 别名
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To

Carbamoyl Phosphate Synthetase I Deficiency

Cps I Deficiency

Carbamoyl Phosphate Synthetase I Deficiency Disease

Carbamoyl-Phosphate Synthase I Deficiency Disease

Congenital Hyperammonemia, Type I

Carbamoylphosphate Synthetase I Deficiency

Carbamoyl Phosphate Synthetase 1 Deficiency

CPS1D

Carbamoyl Phosphate Synthetase Deficiency

Cps 1 Deficiency

Carbamyl Phosphate Synthetase Deficiency

Hyperammonemia Due To Carbamoyl Phosphate Synthetase 1 Deficiency

Carbamyl-Phosphate Synthetase I Deficiency Disease

Carbamoyl-Phosphate Synthetase 1 Deficiency

Cps1 Deficiency

Carbamoyl-Phosphate Synthetase I Deficiency

Carbamoyl-Phosphate Synthetase Deficiency

Hyperammonemia Due To Carbamoyl Phosphate Synthetase I Deficiency

Deficiency, Carbamoylphosphate Synthetase I

Carbamylphosphate Synthetase Deficiency

Pulmonary Hypertension, Neonatal

Pulmonary Hypertension, Neonatal, Susceptibility To

PHN

Hypertension, Pulmonary, Neonatal, Susceptibility To

Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To

Ornithine Carbamoyltransferase Deficiency

Ornithine Transcarbamylase Deficiency

Otc Deficiency

Ornithine Carbamoyltransferase Deficiency Disease

OTCD

Deficiency Of Citrulline Phosphorylase

Oct Deficiency

Hyperammonemia Due To Ornithine Carbamoyltransferase Deficiency

Deficiency, Ornithine Carbamoyltransferase

Pulmonary Hypertension

Primary Pulmonary Hypertension

Hypertension Pulmonary

Hypertension, Pulmonary

Hypertension, Pulmonary, Primary

Idiopathic Pulmonary Hypertension

Idiopathic Pulmonary Arterial Hypertension

Pulmonary Htn - [Hypertension]

N-Acetylglutamate Synthase Deficiency

Nags Deficiency

N-Acetylglutamate Synthetase Deficiency

Hyperammonemia, Type Iii

Hyperammonemia Due To N-Acetylglutamate Synthetase Deficiency

NAGSD

Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency

N-Acetyl Glutamate Synthetase Deficiency

Nag Synthetase Deficiency

Deficiency, N-Acetylglutamate Synthase

Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To

CA5AD

Hyperammonemia Due To Carbonic Anhydrase Va Deficiency

Hyperammonemia

Small Intestine Adenocarcinoma

Small Intestinal Adenocarcinoma

Adenocarcinoma Of Small Intestine

Adenocarcinoma Of The Small Bowel

Adenocarcinoma Of Small Bowel

Adenocarcinoma Of Small Instestine

Adenocarcinoma Of The Small Instestine

Small Bowel Adenocarcinoma

Adenocarcinoma Of The Small Intestine

Urea Cycle Disorder

Urea Cycle Disorders

Urea Cycle Disorders, Inborn

Disorder Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia

Disorder Of Urea Cycle Metabolism

Urea Cycle Defect

Ucd

Disorder Of The Urea Cycle Metabolism

Disorder Of Urea Cycle

Disorders Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia

Ammonia Metabolic Disorder

Meconium Aspiration Syndrome

Neonatal Aspiration Of Meconium

Meconium Aspiration

Mas

Meconium Aspiration Syndrome Of Newborn

Meconium Inhalation

Mas - [Meconium Aspiration Syndrome]

Meconium Aspiration Nos

Meconium Aspiration Syndrome Nos

Meconium Pneumonitis

Meconium Stained Liqueur Aspiration

Argininosuccinic Aciduria

Argininosuccinate Lyase Deficiency

Asl Deficiency

Argininosuccinic Acid Lyase Deficiency

Argininosuccinase Deficiency

Argininosuccinic Acidemia

Arginosuccinase Deficiency

Asa Deficiency

Argininosuccinicaciduria

Asauria

Deficiency Of Argininosuccinate Lyase

Asld

Arginino Succinase Deficiency

Argininosuccinate Acidemia

Inborn Error Of Urea Synthesis, Arginino Succinic Type

Urea Cycle Disorder, Arginino Succinase Type

Argininosuccinyl-Coa Lyase Deficiency

Asa

Argininosuccinatelyase Deficiency

ARGINSA

Aciduria Argininosuccinic

Citrullinemia

Argininosuccinic Acidaemia

Metabolic Disorder Of Arginosuccinic Acid

Isovaleric Acidemia

Isovaleric Acid Coa Dehydrogenase Deficiency

Isovaleryl-Coa Dehydrogenase Deficiency

IVA

Ivd Deficiency

Acidemia, Isovaleric

Isovaleric Aciduria

Isovaleryl Coa Carboxylase Deficiency

Isovaleric Acid-Coa Dehydrogenase Deficiency

Citrullinemia, Classic

Citrullinemia

Classic Citrullinemia

Argininosuccinate Synthetase Deficiency

Ass Deficiency

Citrullinemia Type I

CTLN1

Citrullinuria

Citrullinemia, Type I

Argininosuccinic Acid Synthetase Deficiency

Ctnl1

Citrullinemia 1

Deficiency Of Citrulline-Aspartate Ligase

Cit

Argininosuccinate Synthase Deficiency

Argininosuccinic Acid Synthase Deficiency

Citrullinemia Type 1

Citrullinemia Classical

Argininemia

Hyperargininemia

Arginase Deficiency

Arg1 Deficiency

Arginase-1 Deficiency

Deficiency Of Canavanase

Arginase Deficiency Disease

ARGIN

Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

Hhh Syndrome

Ornithine Translocase Deficiency

Hyperornithinemia-Hyperammonemia-Homocitrullinemia Syndrome

HHHS

Hhh

Triple H Syndrome

Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

Ornithine Translocase Deficiency Syndrome

Hyperornithinaemia-Hyperammonaemia-Homocitrullinuria Syndrome

Ornt1 Deficiency

Ornithine Carrier Deficiency

Hyperornithinemia, Hyperammonemia, Homocitrullinuria Syndrome

Citrullinemia, Type Ii, Adult-Onset

Citrin Deficiency

CTLN2

Citrullinemia Type Ii

Adult-Onset Citrullinemia Type 2

Adult-Onset Type Ii Citrullinemia

Citrullinemia, Adult-Onset Type Ii

Adult-Onset Citrin Deficiency

Adult-Onset Citrullinemia Type Ii

Citrullinemia Type 2

Citrullinemia 2

Citrullinemia, Type Ii

Propionic Acidemia

Ketotic Hyperglycinemia

Propionyl-Coa Carboxylase Deficiency

Pcc Deficiency

Propionicacidemia

Glycinemia, Ketotic

Hyperglycinemia With Ketoacidosis And Leukopenia

Ketotic Glycinemia

Propionic Aciduria

Prop

Acidemia, Propionic

PA-1

Ketotic Ii Glycinemia

Hyperglycinemia, Ketotic

Propionic Acidemia Type I

Propionic Acidemia Type Ii

PA-2

Propionicaciduria

Orotic Aciduria

Hereditary Orotic Aciduria

Orotidylic Pyrophosphorylase And Orotidylic Decarboxylase Deficiency

Uridine Monophosphate Synthase Deficiency

Umps Deficiency

Uridine Monophosphate Synthetase Deficiency

Orotic Aciduria I

Orotate Phosphoribosyltransferase And Orotidylic Decarboxylase Deficiency

Oprt And Odc Deficiency

Ump Synthase Deficiency

Orotic Aciduria Ii

Oroticaciduria 1

Orotic Aciduria Hereditary

Orotic Aciduria Type 1

Hereditary Orotic Aciduria Without Megaloblastic Anemia

Orotate Phosphoribosyltransferase And Omp Decarboxylase Deficiency

Ump Synthtase Deficiency

Umps

Orotidylic Decarboxylase Deficiency

Orotic Aciduria 1

ORAC1

Aciduria, Orotic

Hereditary Orotic Aciduria, Type 1

Orotic Aciduria Nos

Orotaciduric Anaemia

Orotic Aciduria Anaemia

Orotic Aciduria Megaloblastic Anaemia

Pyrimidine Metabolic Disorder

Disorder Of Pyrimidine Metabolism

Pyrimidine Metabolism Disorder

Barrett Esophagus

Barrett'S Esophagus

Barrett Esophagus/Esophageal Adenocarcinoma

Barrett Metaplasia

Barrett'S Ulcer Of Esophagus

Ulcerative Esophagitis

Barrett'S Esophagus With Esophagitis

Barrett'S Oesophagus

Barretts Syndrome

Barrett Syndrome

BE

Peptic Ulcer Of Esophagus

Adenocarcinoma Of Esophagus

Glutaric Acidemia I

Glutaryl-Coa Dehydrogenase Deficiency

GA1

Glutaric Acidemia Type 1

Glutaric Aciduria 1

Glutaric Aciduria Type 1

Glutaric Acidemia Type I

Glutaric Aciduria, Type 1

Glutaric Aciduria I

Ga I

Glutaricaciduria, Type I

Glutaryl-Coenzyme A Dehydrogenase Deficiency

Glutaric Academia Type 1

Glutaric Aciduria Type I

Ga-1

Gcdh Deficiency

Ga 1

Glutaric Acidemia 1

Gcdhd

Glutaric Aciduria, Type I

Glutaricaciduria I

Ga-I

Glutaricaciduria, Type 1

Methylmalonic Acidemia

Methylmalonic Aciduria

Mma

Acidemia, Methylmalonic

Isolated Methylmalonic Acidemia

Amino Acid Metabolic Disorder

Amino Acid Metabolism, Inborn Errors

Inborn Errors Of Amino Acid Metabolism

Disorder Of Amino Acid Metabolism

Amino Acid Metabolism Disorders

Crigler-Najjar Syndrome, Type I

Crigler-Najjar Syndrome

Crigler-Najjar Syndrome Type 1

Bilirubin Udp Glucuronyl Transferase Deficiency

Crigler Najjar Syndrome

Crigler Najjar Syndrome, Type 1

Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency

Bilirubin-Ugt Deficiency

Hyperbilirubinemia, Crigler-Najjar Type I

Hblrcn1

Familial Nonhemolytic Unconjugated Hyperbilirubinemia

Hereditary Unconjugated Hyperbilirubinemia

Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Type 1

Bilirubin-Ugt Deficiency Type 1

Crigler-Najjar Syndrome 1

CN1

Cn-I

Crigler-Najjar Syndrome Type I

Hereditary Unconjugated Hyperbilirubinaemia

Ugt Deficiency

Bilirubin Glucuronosyltransferase Deficiency

Crigler-Najjar Disease Or Syndrome

Deficiency Of Glucuronosyltransferase

Glucuronyl Transferase Deficiency

Glucuronyltransferase Deficiency

Udp Glucuronyl Transferase Deficiency

Cns - [Crigler-Najjar Syndrome]

Congenital Familial Nonhemolytic Jaundice

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Bos taurus CPS1 VGNC VGNC:27669
Rattus norvegicus CPS1 RGD RGD:2395
Mus musculus CPS1 MGD MGI:891996
Felis catus CPS1 VGNC VGNC:61139
Macaca mulatta CPS1 VGNC VGNC:71471
Canis familiaris CPS1 VGNC VGNC:39572
Others CPS1 NCBI