ATIC - 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase Gene

中文名称：5-氨基咪唑-4-甲酰胺核糖核苷酸甲酰基转移酶/IMP 环水解酶

种属: Homo sapiens

同用名: PURH; AICAR; AICARFT; IMPCHASE; HEL-S-70p

基因 ID: 471 | 基因类型: protein coding

关于 ATIC

Cytogenetic location: 2q35 Genomic coordinates (GRCh38): 2:215,312,059-215,368,592 (from NCBI)

This gene has 14 transcripts (splice variants), 226 orthologues and is associated with 67 phenotypes. Ubiquitous expression in lymph node (RPKM 19.1), placenta (RPKM 17.9) and 25 other tissues.

功能概要

该基因编码一种双功能蛋白，可催化嘌呤从头生物合成途径的最后两个步骤。 N 端结构域具有磷酸核糖氨基咪唑甲酰胺甲酰基转移酶活性，C 端结构域具有 IMP 环化水解酶活性。该基因的突变导致 AICA 核糖尿症。[RefSeq 提供，2009 年 9 月]

This gene encodes a bifunctional protein that catalyzes the last two steps of the de novo purine biosynthetic pathway. The N-terminal domain has phosphoribosylaminoimidazolecarboxamide formyltransferase activity, and the C-terminal domain has IMP cyclohydrolase activity. A mutation in this gene results in AICA-ribosiduria. [provided by RefSeq, Sep 2009]

ATIC 基因产物(1)

mRNA	Protein	Name
NM_004044.7	NP_004035.2	bifunctional purine biosynthesis protein ATIC

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 IMP cyclohydrolase activity	IDA IDA: 通过直接分析推断	26588576	GOA
enables protein homodimerization activity	IPI IPI: 通过物理相互作用推断	14756553	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in 'de novo' AMP biosynthetic process	IDA IDA: 通过直接分析推断	26588576	GOA
involved in 'de novo' IMP biosynthetic process	IDA IDA: 通过直接分析推断	26588576	GOA
involved in 'de novo' XMP biosynthetic process	IDA IDA: 通过直接分析推断	26588576	GOA
involved in GMP biosynthetic process	IDA IDA: 通过直接分析推断	26588576	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

ATIC 蛋白结构

MGS

AICARFT_IMPCHas

0
100
200
300
400
500
592 a.a.

蛋白主名

其他名称

bifunctional purine biosynthesis protein ATIC

5-aminoimidazole-4-carboxamide-1-beta-D-ribonucleotide transformylase/inosinicase

ATIC 抗体

目录号	产品名	应用	反应物种
HY-P81327	ATIC Antibody (YA1072)	WB	Human, Mouse, Rat
HY-P85553	ATIC Antibody (YA5245)	WB	Human, Mouse, Rat

关联疾病

疾病名称

别名

Aica-Ribosuria Due To Atic Deficiency

Aica-Ribosiduria Due To Atic Deficiency	Aicar Transformylase/Imp Cyclohydrolase Deficiency
Atic Deficiency	Aica-Ribosiduria
5-Amino-4-Imidazole Carboxamide Ribosiduria	AICAR
Aicar Transformylase Inosine Monophosphate Cyclohydrolase Deficiency

Glomerulopathy With Fibronectin Deposits 2

Fibronectin Glomerulopathy	GFND2
Glomerulopathy With Fibronectin Deposits	Familial Glomerular Nephritis With Fibronectin Deposits
Familial Lobular Glomerulopathy	Gfnd
Glomerulopathy With Giant Fibrillar Deposits	Glomerular Nephritis, Familial, With Fibronectin Deposits
Glomerular Nephritis Familial With Fibronectin Deposits	Glomerulopathy, With Fibronectin Deposits
Glomerulopathy, With Fibronectin Deposits, Type 2

Pulmonary Plasma Cell Granuloma

Plasma Cell Granuloma, Pulmonary	Granuloma, Plasma Cell, Pulmonary
Lymphocytic Pseudotumor Of Lung	Sclerosing Hemangiocytoma Of Lung

Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome	Ns - [Nephrotic Syndrome]
Nephrosis Syndrome	Nephrosis Nos
Glomerular Lesion Nephrosis

Epithelioid Inflammatory Myofibroblastic Sarcoma

Inflammatory Myofibroblastic Tumor

Inflammatory Fibrosarcoma

Rheumatoid Arthritis

RA	Arthritis, Rheumatoid
Rheumatoid Arthritis, Susceptibility To	Arthritis Or Polyarthritis, Rheumatic
Atrophic Arthritis	Rheumatism Arthritis
Rheumatoid Polyarthritis

Charcot-Marie-Tooth Disease, X-Linked Recessive, 5

CMTX5	Rosenberg-Chutorian Syndrome
Charcot-Marie-Tooth Disease X-Linked Recessive 5	Optic Atrophy, Polyneuropathy, And Deafness
Charcot-Marie-Tooth Neuropathy X-Linked Recessive 5	Cmt5x
X-Linked Charcot-Marie-Tooth Disease Type 5	Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 5
Optic Atrophy Polyneuropathy Deafness	Optic Atrophy With Polyneuropathy And Deafness
Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 5

Arts Syndrome

ARTS	Mrxsarts
Ataxia, Fatal X-Linked, With Deafness And Loss Of Vision	Mrxs18
Lethal Ataxia With Deafness And Optic Atrophy	Fatal X-Linked Ataxia With Deafness And Loss Of Vision
Mental Retardation, X-Linked, Syndromic, Arts Type	Mental Retardation, X-Linked, Syndromic 18
Syndromic X-Linked Mental Retardation 18	Syndromic X-Linked Mental Retardation Arts Type
Lethal Ataxia-Deafness-Optic Atrophy	X-Linked Fatal Ataxia With Deafness And Loss Of Vision
Ataxia-Deafness-Optic Atrophy, Lethal	Lethal Ataxia With Hearing Loss And Optic Atrophy
Art

Childhood Osteosarcoma

Pediatric Osteosarcoma

Lesch-Nyhan Syndrome

Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency	LNS
Hprt Deficiency	Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency	X-Linked Hyperuricemia
Choreoathetosis Self-Mutilation Syndrome	Hprt1 Deficiency
Hprt Deficiency, Complete	Deficiency Of Imp Pyrophosphorylase
Hgprt Deficiency	Lesch-Nyhan Disease
Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency	Hg-Prt Deficiency
Hypoxanthine-Guanine-Phosphoribosyltransferase Deficiency	Lesch - Nyhan Syndrome
Hprt1 Disorders	Lesch Nyhan Syndrome
Complete Hprt Deficiency Complete	Lesch Nyhan Disease
Complete Hprt Deficiency	Deficiency Of Guanine Phosphoribosyltransferase
Deficiency Of Hypoxanthine Phosphoribosyltransferase	Hypoxanthine Phosphoribosyltransferase Deficiency
Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome	Juvenile Hyperuricemia Syndrome
Lnd	Primary Hyperuricemia Syndrome
Total Hprt Deficiency	Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency
X-Linked Primary Hyperuricemia	X-Linked Uric Aciduria Enzyme Defect
Hprt Complete Deficiency	Hprt Deficiency Grade Iv
Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency	Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade Iv
Hypoxanthine-Guanine Phosphoribosyltransferase 1 Deficiency	Hprt - [ Hypoxanthine-Guanine Phosphoribosyltransferase] Complete Deficiency
Total Hgprt - [Hypoxanthine-Guanine Phosphoribosyltransferase] Deficiency

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

目录号	产品名	作用方式	纯度	Phase
HY-N0485	Liensinine Diperchlorate	Inhibitor	99.97%	Phase 2
HY-135238	(rel)-RSD 921	Agonist	/	Phase 2

目录号	产品名	作用方式	纯度	Phase
HY-P990067	Evunzekibart	Inhibitor	97.02%	Phase 1

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-150252A	ATIC-IN-1 acetate	Inhibitor	99.96%	否
HY-N1448	Vincetoxicoside B	Inhibitor	99.70%	否
HY-29244	ATIC-IN-2	Inhibitor	≥98.0%	否
HY-150252	ATIC-IN-1		99.69%	否
HY-E70121	Succinyl-CoA synthetase		/	否
HY-141324	Tetraethyl butane-1,4-diylbis(phosphoramidate)		/	否
HY-RS01126	ATE1 Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS01156	ATIC Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS17124	Atic Mouse Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS23569	Atic Rat Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	ATIC	VGNC	VGNC:26264
Rattus norvegicus	ATIC	RGD	RGD:70879
Canis familiaris	ATIC	VGNC	VGNC:38229
Felis catus	ATIC	VGNC	VGNC:80144
Macaca mulatta	ATIC	VGNC	VGNC:70172
Mus musculus	ATIC	MGD	MGI:1351352
Canis lupus familiaris	ATIC	NCBI
Others	ATIC	NCBI

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

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）

ATIC - 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase Gene

关于 ATIC

功能概要

ATIC 基因产物(1)

ATIC 蛋白结构

ATIC 抗体

关联疾病

直系同源

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ATIC - 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase Gene

关于 ATIC

功能概要

ATIC 基因产物(1)

ATIC 蛋白结构

ATIC 抗体

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