UROS - uroporphyrinogen III synthase Gene

中文名称：尿卟啉原 III 合酶

种属: Homo sapiens

同用名: UROIIIS

基因 ID: 7390 | 基因类型: protein coding

关于 UROS

Cytogenetic location: 10q26.2 Genomic coordinates (GRCh38): 10:125,784,980-125,823,258 (from NCBI)

This gene has 21 transcripts (splice variants), 201 orthologues and is associated with 3 phenotypes. Ubiquitous expression in bone marrow (RPKM 4.5), brain (RPKM 4.4) and 25 other tissues.

功能概要

该基因编码的蛋白质催化血红素生物合成途径中卟啉生物合成的第四步。该基因的缺陷会导致先天性红细胞生成性卟啉病 (冈瑟氏病) 。[RefSeq 提供，2008 年 7 月]

The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in this gene cause congenital erythropoietic porphyria (Gunther's disease). [provided by RefSeq, Jul 2008]

UROS 基因产物(5)

mRNA	Protein	Name
NM_000375.3	NP_000366.1	uroporphyrinogen-III synthase isoform 2
NM_001324036.2	NP_001310965.1	uroporphyrinogen-III synthase isoform 1
NM_001324037.2	NP_001310966.1	uroporphyrinogen-III synthase isoform 3
NM_001324038.2	NP_001310967.1	uroporphyrinogen-III synthase isoform 4
NM_001324039.2	NP_001310968.1	uroporphyrinogen-III synthase isoform 5

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 uroporphyrinogen-III synthase activity	IDA IDA: 通过直接分析推断	3174619	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in heme biosynthetic process	IDA IDA: 通过直接分析推断	3805019	GOA
involved in uroporphyrinogen III biosynthetic process	IDA IDA: 通过直接分析推断	3174619	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

UROS 蛋白结构

HEM4

0
100
200
265 a.a.

蛋白主名

其他名称

uroporphyrinogen-III synthase

hydroxymethylbilane hydrolyase

重组 UROS 蛋白

目录号	产品名	蛋白编号	纯度
HY-P71105	UROIIIS Protein, Human (His)	P10746 (M1-C265)	≥95%

关联疾病

疾病名称

别名

Porphyria, Congenital Erythropoietic

Congenital Erythropoietic Porphyria	Gunther Disease
CEP	Uros Deficiency
Günther Disease	Uroporphyrinogen Iii Synthase Deficiency
Congenital Porphyria	Uroporphyrinogen Iii Synthase, Deficiency Of
Porphyria, Erythropoietic, Congenital	Porphyria, Erythropoietic
Deficiency Of Uroporphyrinogen Iii Synthase

Cutaneous Porphyria

Porphyria, Erythropoietic

Erythropoietic Porphyria

Porphyria

Hematoporphyria	Porphyrias
Disorder Of Porphyrin And Hem Metabolism	Disorder Of Porphyrin Metabolism
Porphyrinopathy	Porphyrin Disorder
Disorder Of Porphyrin And Heme Metabolism	Disorders Of Porphyrin Metabolism

Cicatricial Ectropion

Porphyria Cutanea Tarda

Hepatoerythropoietic Porphyria	HEP
Uroporphyrinogen Decarboxylase Deficiency	Pct
Pct, Type Ii	Porphyria, Hepatocutaneous Type
Urod Deficiency	Porphyria, Hepatoerythropoietic
Porphyria Cutanea Tarda, Susceptibility To	Familial Porphyria Cutanea Tarda
Porphyria Cutanea Tarda, Type Ii	Pct, 'Familial' Type
Porphyria, Hepatic	FPCT
Pct Type Ii	Porphyria Cutanea Tarda Type Ii
Porphyria Hepatocutaneous Type	Heterozygous Uroporphyrinogen Decarboxylase Deficiency
Urod - [Uroporphyrinogen Decarboxylase] Deficiency	Pct - [Porphyria Cutanea Tarda]

Sclerosing Keratitis

Sclerokeratitis

Dubin-Johnson Syndrome

DJS	Chronic Idiopathic Jaundice
Jaundice, Chronic Idiopathic	Hyperbilirubinemia, Dubin-Johnson Type
Hyperbilirubinemia Ii	Hyperbilirubinemia Type 2
Conjugated Hyperbilirubinemia	Dubin-Sprinz Disease
Sprinz-Nelson Syndrome	Hblrdj
Dubin Johnson Syndrome	Hyperbilirubinemia 2
Black Liver-Jaundice Syndrome	Chronic Idiopathic Jaundice With Pigmented Liver
Dubin-Sprinz Syndrome	Hyperbilirubinaemia Type 2
Djs - [Dubin-Johnson Syndrome]

Anemia, Sideroblastic, 1

Xlsa	X-Linked Sideroblastic Anemia
Hypochromic Anemia	Anh1
Hereditary Iron-Loading Anemia	Anemia, Sideroblastic, X-Linked
Anemia, Hereditary Sideroblastic	Erythroid 5-Aminolevulinate Synthase Deficiency
Hereditary Sideroblastic Anemia	SIDBA1
Anemia, Hypochromic	Sideroblastic Anemia 1
Anemia Hypochromic	X Chromosome-Linked Sideroblastic Anemia
Sideroblastic Anaemia 1	X-Linked Sideroblastic Anaemia
Anemia Hereditary Sideroblastic	Anemia Sex-Linked Hypochromic Sideroblastic
Congenital Sideroblastic Anemia	Sideroblastic Anemia X-Linked
Anemia, Sex-Linked Hypochromic Sideroblastic	Congenital Sideroblastic Anaemia
X-Linked Pyridoxine-Responsive Sideroblastic Anemia	Anemia Congenital Sideroblastic
Anemia, Sideroblastic, Type 1	Sex-Linked Hypochromic Sideroblastic Anaemia
Autosomal Recessive Sideroblastic Anaemia	Familial Sex Linked Hypochromic Anaemia

Protoporphyria, Erythropoietic, 1

Erythropoietic Protoporphyria	Epp
Ferrochelatase Deficiency	Protoporphyria, Erythropoietic
Erythrohepatic Protoporphyria	Heme Synthetase Deficiency
Autosomal Erythropoietic Protoporphyria	EPP1
Protoporphyria	Protoporphyria Erythropoietic

Deep Keratitis

Coproporphyria, Hereditary

Hereditary Coproporphyria	Coproporphyria
Coproporphyrinogen Oxidase Deficiency	HCP
Cpo Deficiency	Cpox Deficiency
Cpx Deficiency	Hereditary Coproporphyria Porphyria
Cpro Deficiency	Coproporphyria Hereditary
Porphyria Hepatica Ii	Porphyria Hepatica Coproporphyria
Porphyria, Hereditary Coproporphyria	Harderoporphyria

Porphyria, Acute Intermittent

Acute Intermittent Porphyria	Porphobilinogen Deaminase Deficiency
Pbgd Deficiency	AIP
Porphyria, Swedish Type	Uroporphyrinogen Synthase Deficiency
Ups Deficiency	Porphyria, Acute Intermittent, Nonerythroid Variant
Hydroxymethylbilane Synthase Deficiency	Aip - Acute Intermittent Porphyria
Porphyria Intermittent Acute	Pyrroloporphyria
Hmbs Deficiency	Porphyria Acute Intermittent

Variegate Porphyria

Porphyria Variegata	Protoporphyrinogen Oxidase Deficiency
VP	Ppox Deficiency
Porphyria, South African Type	Porphyria Variegata, Susceptibility To
Protocoproporphyria	Porphyria Variegate
Porphyria South African Type	Pv
Porphyria, Variegate	Vp - [Variegate Porphyria]

Acute Porphyria

Porphyrias, Hepatic	Hepatic Porphyria
Porphyria Hepatic	Acute Intermittent Porphyria

Hemolytic Anemia

Anemia, Hemolytic	Anemia Hemolytic
Anaemia Due To Other Disorders Of Glutathione Metabolism	Chronic Non Spherocytic Anaemia
G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia	Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency
Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia	Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia
Favism Anaemia	Haemolytic Anaemia Due Tog6pd Deficiency
Favism	Pentose Phosphate Pathway Disorder Anaemia
Anaemia Due To Pentose Phosphate Pathway Defect

Alcoholic Neuropathy

Alcoholic Polyneuropathy	Alcohol-Related Polyneuropathy
Alcohol-Induced Polyneuropathy	Alcoholic Peripheral Neuropathy

Hypertrichosis

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS15510	UROS Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	UROS	VGNC	VGNC:36702
Rattus norvegicus	UROS	RGD	RGD:1310396
Macaca mulatta	UROS	VGNC	VGNC:78731
Felis catus	UROS	VGNC	VGNC:66857
Mus musculus	UROS	MGD	MGI:98917
Canis familiaris	UROS	VGNC	VGNC:48170
Others	UROS	NCBI

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站点地图隐私声明

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上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

UROS - uroporphyrinogen III synthase Gene

关于 UROS

功能概要

UROS 基因产物(5)

UROS 蛋白结构

重组 UROS 蛋白

关联疾病

直系同源

热门区域

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UROS - uroporphyrinogen III synthase Gene

关于 UROS

功能概要

UROS 基因产物(5)

UROS 蛋白结构

重组 UROS 蛋白

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z