2. Gene
  3. UPB1 - beta-ureidopropionase 1 Gene

UPB1 - beta-ureidopropionase 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：β-脲基丙酸酶 1

种属: Homo sapiens

同用名: BUP1

基因 ID: 51733 | 基因类型: protein coding

关于 UPB1

Cytogenetic location: 22q11.23 Genomic coordinates (GRCh38): 22:24,495,332-24,528,390 (from NCBI)

This gene has 5 transcripts (splice variants), 202 orthologues, 2 paralogues and is associated with 2 phenotypes. Biased expression in liver (RPKM 34.8) and kidney (RPKM 13.3).

功能概要

该基因编码一种属于 CN 水解酶家族的蛋白质。 β-脲基丙酸酶催化嘧啶降解途径的最后一步。嘧啶碱基尿嘧啶和胸腺嘧啶通过二氢嘧啶脱氢酶 (DHPDH) 、二氢嘧啶酶 (DHP) 和 β-脲基丙酸酶 (UP) 的连续作用分别降解为 β-丙氨酸和 β-氨基异丁酸。 UP 缺乏与 N-氨甲酰-β-氨基酸尿症有关，并可能导致神经活动异常。[RefSeq 提供，2008 年 7 月]

This gene encodes a protein that belongs to the CN hydrolase family. Beta-ureidopropionase catalyzes the last step in the pyrimidine degradation pathway. The pyrimidine bases uracil and thymine are degraded via the consecutive action of dihydropyrimidine dehydrogenase (DHPDH), dihydropyrimidinase (DHP) and beta-ureidopropionase (UP) to beta-alanine and beta-aminoisobutyric acid, respectively. UP deficiencies are associated with N-carbamyl-beta-amino aciduria and may lead to abnormalities in neurological activity. [provided by RefSeq, Jul 2008]

UPB1 基因产物(1)

mRNA Protein Name
NM_016327.3 NP_057411.1 beta-ureidopropionase
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables beta-ureidopropionase activity IDA
IDA: 通过直接分析推断
22525402 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
29976570 GOA
NOT enables zinc ion binding IDA
IDA: 通过直接分析推断
29976570 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in beta-alanine biosynthetic process via 3-ureidopropionate IDA
IDA: 通过直接分析推断
22525402 GOA
involved in protein homooligomerization IDA
IDA: 通过直接分析推断
22525402 GOA
involved in protein homotetramerization IDA
IDA: 通过直接分析推断
29976570 GOA
involved in pyrimidine nucleoside catabolic process IMP
IMP: 通过突变表型推断
22525402 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

UPB1 蛋白结构

CN_hydrolase

CN_hydrolase: Carbon-nitrogen hydrolase (86 - 258)

  • 0
  • 100
  • 200
  • 300
  • 384 a.a.
蛋白主名 其他名称

beta-ureidopropionase

beta-alanine synthase

重组 UPB1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P7688 BUP-1 Protein, Human (His) Q9UBR1 (M1-E384) ≥95%

关联疾病

疾病名称 别名
Beta-Ureidopropionase Deficiency

Deficiency Of Beta-Ureidopropionase

UPB1D

Beta-Alanine Synthase Deficiency
Dihydropyrimidinase Deficiency

Dihydropyrimidinuria

Dpys Deficiency

Dph Deficiency

DPYSD

Dihydrouracil Amidohydrolase Deficiency

Dihydropyrimidinuria Due To Dpys Deficiency
Pyrimidine Metabolic Disorder

Disorder Of Pyrimidine Metabolism

Pyrimidine Metabolism Disorder
Histidine Metabolism Disease

Disturbances Of Histidine Metabolism

Disorder Of Histidine Metabolism

Disturbance Of Histidine Metabolism
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS15481 UPB1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta UPB1 VGNC VGNC:79029
Bos taurus UPB1 VGNC VGNC:36679
Rattus norvegicus UPB1 RGD RGD:620091
Canis familiaris UPB1 VGNC VGNC:48149
Felis catus UPB1 VGNC VGNC:66839
Mus musculus UPB1 MGD MGI:2143535
嗨！很高兴为您提供帮助！

尊敬的 MCE 客户您好，
请您选择所在区域，我们将转接对应客服为您服务！

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

热 A B C F G H J L N Q S T X Y Z