PRTFDC1 - phosphoribosyl transferase domain containing 1 Gene

中文名称：含磷酸核糖转移酶结构域 1

种属: Homo sapiens

同用名: HHGP

基因 ID: 56952 | 基因类型: protein coding

关于 PRTFDC1

Cytogenetic location: 10p12.1 Genomic coordinates (GRCh38): 10:24,848,614-24,952,606 (from NCBI)

This gene has 3 transcripts (splice variants), 315 orthologues and 6 paralogues. Ubiquitous expression in brain (RPKM 14.5), adrenal (RPKM 9.7) and 21 other tissues.

功能概要

启用蛋白质同源二聚化活性。预测参与嘌呤核糖核苷补救。 [由基因组资源联盟提供，2022 年 4 月]

Enables protein homodimerization activity. Predicted to be involved in purine ribonucleoside salvage. [provided by Alliance of Genome Resources, Apr 2022]

PRTFDC1 基因产物(2)

mRNA	Protein	Name
NM_001282786.2	NP_001269715.1	phosphoribosyltransferase domain-containing protein 1 isoform 2
NM_020200.7	NP_064585.1	phosphoribosyltransferase domain-containing protein 1 isoform 1

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
NOT enables hypoxanthine phosphoribosyltransferase activity	IDA IDA: 通过直接分析推断	21054786	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	16189514	GOA
enables protein homodimerization activity	IPI IPI: 通过物理相互作用推断	21054786	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
NOT involved in GMP catabolic process	IDA IDA: 通过直接分析推断	21054786	GOA
NOT involved in guanine salvage	IDA IDA: 通过直接分析推断	21054786	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

PRTFDC1 蛋白结构

Pribosyltran

0
100
200
225 a.a.

蛋白主名

其他名称

phosphoribosyltransferase domain-containing protein 1

PRTFDC1 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	PRTFDC1	Q9NRG1	LGALS9B	Homo sapiens	Q3B8N2	Validated Y2H	25416956
种属内	PRTFDC1	Q9NRG1	LGALS9B	Homo sapiens	Q3B8N2	Y2H Array	25416956
种属内	PRTFDC1	Q9NRG1	LGALS9B	Homo sapiens	Q3B8N2	Y2H Prey Pooling	25416956
种属内	PRTFDC1	Q9NRG1	EPM2AIP1	Homo sapiens	Q7L775	Y2H Array	25416956
种属内	PRTFDC1	Q9NRG1	EPM2AIP1	Homo sapiens	Q7L775	Y2H Prey Pooling	25416956
种属内	PRTFDC1	Q9NRG1	SPG21	Homo sapiens	Q9NZD8	Validated Y2H	32296183
种属内	PRTFDC1	Q9NRG1	EEF2KMT	Homo sapiens	Q96G04	Validated Y2H	25416956
种属内	PRTFDC1	Q9NRG1	EEF2KMT	Homo sapiens	Q96G04	Y2H Pooling	16189514
种属内	PRTFDC1	Q9NRG1	EEF2KMT	Homo sapiens	Q96G04	Y2H Array	31515488
种属内	PRTFDC1	Q9NRG1	HPRT1	Homo sapiens	P00492	Y2H Array	25416956
种属内	PRTFDC1	Q9NRG1	HPRT1	Homo sapiens	P00492	Y2H Array	31515488
种属内	PRTFDC1	Q9NRG1	HPRT1	Homo sapiens	P00492	Validated Y2H	25416956
种属内	PRTFDC1	Q9NRG1	GNPDA1	Homo sapiens	P46926	Y2H Prey Pooling	25416956
种属内	PRTFDC1	Q9NRG1	GNPDA1	Homo sapiens	P46926	Validated Y2H	25416956
种属内	PRTFDC1	Q9NRG1	MCMBP	Homo sapiens	Q9BTE3	Y2H Prey Pooling	25416956
种属内	PRTFDC1	Q9NRG1	MCMBP	Homo sapiens	Q9BTE3	Validated Y2H	25416956
种属内	PRTFDC1	Q9NRG1	MCMBP	Homo sapiens	Q9BTE3	Y2H Array	25416956
种属内	PRTFDC1	Q9NRG1	TCL1A	Homo sapiens	P56279	Y2H Array	25416956
种属内	PRTFDC1	Q9NRG1	TCL1A	Homo sapiens	P56279	Y2H Prey Pooling	25416956

种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 PRTFDC1 蛋白

目录号	产品名	蛋白编号	纯度
HY-P77158	PRTFDC1 Protein, Human (His)	Q9NRG1-1 (M1-V225)	≥95%

关联疾病

疾病名称

别名

Acute Laryngitis

Acute Laryngitis Nos	Laryngeal Inflammation
Laryngitis Nos	Larynx Inflammation

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

Dissociative Amnesia

Psychogenic Amnesia	Amnesia, Dissociative
Amnesia, Psychogenic	Amnesia Neurosis
Hysterical Fugue	Dissociative Fugue

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-RS11260	PRTFDC1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	PRTFDC1	VGNC	VGNC:45075
Macaca mulatta	PRTFDC1	VGNC	VGNC:76303
Rattus norvegicus	PRTFDC1	RGD	RGD:1310177
Felis catus	PRTFDC1	VGNC	VGNC:64404
Others	PRTFDC1	NCBI

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