RPIA - ribose 5-phosphate isomerase A Gene

中文名称：核糖 5-磷酸异构酶 A

种属: Homo sapiens

同用名: RPI; RPIAD

基因 ID: 22934 | 基因类型: protein coding

关于 RPIA

Cytogenetic location: 2p11.2 Genomic coordinates (GRCh38): 2:88,691,673-88,750,929 (from NCBI)

This gene has 1 transcript (splice variant), 215 orthologues and is associated with 3 phenotypes. Ubiquitous expression in bone marrow (RPKM 30.3), placenta (RPKM 17.7) and 25 other tissues.

功能概要

该基因编码的蛋白质是一种酶，可催化戊糖磷酸途径中的核糖-5-磷酸和核酮糖-5-磷酸之间的可逆转化。该基因在大多数生物体中高度保守。该酶在碳水化合物代谢中起着至关重要的作用。该基因的突变会导致核糖 5-磷酸异构酶缺乏症。在 18 号染色体上发现了一个假基因。[RefSeq 提供，2010 年 3 月]

The protein encoded by this gene is an Enzyme, which catalyzes the reversible conversion between ribose-5-phosphate and ribulose-5-phosphate in the pentose-phosphate pathway. This gene is highly conserved in most organisms. The Enzyme plays an essential role in the carbohydrate metabolism. Mutations in this gene cause ribose 5-phosphate isomerase deficiency. A pseudogene is found on chromosome 18. [provided by RefSeq, Mar 2010]

RPIA 基因产物(1)

mRNA	Protein	Name
NM_144563.3	NP_653164.2	ribose-5-phosphate isomerase

基因本体论

分子功能

分子功能 GO 注释	逻辑证据	参考文献	来源
enables identical protein binding	IPI IPI: 通过物理相互作用推断	16189514	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	16189514	GOA
enables ribose-5-phosphate isomerase activity	EXP EXP: 通过实验结果推断	14988808	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

RPIA 蛋白结构

Rib_5-P_isom_A

0
100
200
311 a.a.

蛋白主名

其他名称

ribose-5-phosphate isomerase

phosphoriboisomerase

RPIA 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	RPIA	P49247	CENPP	Homo sapiens	Q6IPU0	Validated Y2H	32296183
种属内	RPIA	P49247	CENPP	Homo sapiens	Q6IPU0	Y2H Array	32296183
种属内	RPIA	P49247	CENPP	Homo sapiens	Q6IPU0	Y2H Prey Pooling	25416956
种属内	RPIA	P49247	CENPP	Homo sapiens	Q6IPU0	Y2H Prey Pooling	32296183
种属内	RPIA	P49247	FOXP2	Homo sapiens	Q75MZ5	Y2H Prey Pooling	25416956
种属内	RPIA	P49247	ATPAF2	Homo sapiens	Q8N5M1	Validated Y2H	32296183
种属内	RPIA	P49247	ATPAF2	Homo sapiens	Q8N5M1	Y2H Array	25416956
种属内	RPIA	P49247	ATPAF2	Homo sapiens	Q8N5M1	Y2H Array	32296183
种属内	RPIA	P49247	ATPAF2	Homo sapiens	Q8N5M1	Y2H Prey Pooling	25416956
种属内	RPIA	P49247	ATPAF2	Homo sapiens	Q8N5M1	Y2H Prey Pooling	32296183
种属内	RPIA	P49247	TXN2	Homo sapiens	Q99757	Validated Y2H	25416956
种属内	RPIA	P49247	TXN2	Homo sapiens	Q99757	Validated Y2H	32296183
种属内	RPIA	P49247	PTPN11	Homo sapiens	Q06124	Y2H	21516116
种属内	RPIA	P49247	PTPN11	Homo sapiens	Q06124	Y2H Prey Pooling	25416956
种属内	RPIA	P49247	PTPN11	Homo sapiens	Q06124	Validated Y2H	25416956
种属内	RPIA	P49247	PCMT1	Homo sapiens	P22061	Validated Y2H	25416956
种属内	RPIA	P49247	C14orf119	Homo sapiens	Q9NWQ9	Validated Y2H	32296183
种属内	RPIA	P49247	HSPB8	Homo sapiens	Q9UJY1	Y2H Prey Pooling	32296183
种属内	RPIA	P49247	HSPB8	Homo sapiens	Q9UJY1	Validated Y2H	32296183
种属内	RPIA	P49247	HSPB8	Homo sapiens	Q9UJY1	Y2H Array	32296183
种属内	RPIA	P49247	GORASP2	Homo sapiens	Q9H8Y8	Validated Y2H	32296183
种属内	RPIA	P49247	GORASP2	Homo sapiens	Q9H8Y8	Y2H Array	25416956
种属内	RPIA	P49247	GORASP2	Homo sapiens	Q9H8Y8	Y2H	21516116
种属内	RPIA	P49247	GORASP2	Homo sapiens	Q9H8Y8	Y2H Array	29892012
种属内	RPIA	P49247	GORASP2	Homo sapiens	Q9H8Y8	Y2H Prey Pooling	25416956
种属内	RPIA	P49247	LNX1	Homo sapiens	Q8TBB1	Y2H Array	29892012
种属内	RPIA	P49247	LNX1	Homo sapiens	Q8TBB1	Y2H Pooling	16189514
种属内	RPIA	P49247	LNX1	Homo sapiens	Q8TBB1	Validated Y2H	32296183
种属内	RPIA	P49247	NTAQ1	Homo sapiens	Q96HA8	Y2H Array	25416956
种属内	RPIA	P49247	NTAQ1	Homo sapiens	Q96HA8	Y2H Pooling	16189514
种属内	RPIA	P49247	NTAQ1	Homo sapiens	Q96HA8	Y2H Array	31515488
种属内	RPIA	P49247	NTAQ1	Homo sapiens	Q96HA8	Validated Y2H	32296183
种属内	RPIA	P49247	DDIT4L	Homo sapiens	Q96D03	Validated Y2H	32296183
种属内	RPIA	P49247	DDIT4L	Homo sapiens	Q96D03	Y2H Array	32296183
种属内	RPIA	P49247	DDIT4L	Homo sapiens	Q96D03	Y2H Prey Pooling	32296183
种属内	RPIA	P49247	STK16	Homo sapiens	O75716	Y2H Prey Pooling	25416956
种属内	RPIA	P49247	STK16	Homo sapiens	O75716	Y2H Array	25416956
种属内	RPIA	P49247	RNF208	Homo sapiens	Q9H0X6	Validated Y2H	25416956
种属内	RPIA	P49247	RNF208	Homo sapiens	Q9H0X6	Y2H Array	25416956
种属内	RPIA	P49247	PICK1	Homo sapiens	Q9NRD5	Validated Y2H	32296183

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Ribose 5-Phosphate Isomerase Deficiency

RPIAD	Deficiency Of Ribose-5-Phosphate Isomerase
Ribose-5-P Isomerase Deficiency	Ribose-5-Phosphate Isomerase Deficiency

Glutathione Synthetase Deficiency

5-Oxoprolinuria	Pyroglutamic Aciduria
Pyroglutamicaciduria	Glutathione Synthetase Deficiency With 5-Oxoprolinuria
GSSD	Oxoprolinase Deficiency
5-Oxoprolinemia	Deficiency Of Glutathione Synthase
Deficiency Of Glutathione Synthetase	Pyroglutamic Acidemia
GSS DEFICIENCY	Gluthathione Synthetase Deficiency
5-Oxoprolinase Deficiency

Fumarase Deficiency

Fumaric Aciduria	FMRD
Fumarate Hydratase Deficiency	Deficiency, Fumarase

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-RS12159	RPIA 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	RPIA	VGNC	VGNC:34107
Felis catus	RPIA	VGNC	VGNC:64736
Macaca mulatta	RPIA	VGNC	VGNC:76921
Mus musculus	RPIA	MGD	MGI:103254
Rattus norvegicus	RPIA	RGD	RGD:1311377

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