PIGP - phosphatidylinositol glycan anchor biosynthesis class P Gene

中文名称：磷脂酰肌醇聚糖锚生物合成 P 类

种属: Homo sapiens

同用名: DCRC; DSRC; DEE55; DSCR5; PIG-P; DCRC-S; EIEE55

基因 ID: 51227 | 基因类型: protein coding

关于 PIGP

Cytogenetic location: 21q22.13 Genomic coordinates (GRCh38): 21:37,065,364-37,073,071 (from NCBI)

This gene has 8 transcripts (splice variants), 222 orthologues and is associated with 2 phenotypes. Ubiquitous expression in fat (RPKM 11.1), adrenal (RPKM 10.6) and 25 other tissues.

功能概要

该基因编码一种参与糖基磷脂酰肌醇 (GPI) -锚生物合成第一步的酶。 GPI 锚是一种在许多血细胞上发现的糖脂，用于将蛋白质锚定到细胞表面。编码的蛋白质是 GPI-N-乙酰葡糖胺基转移酶复合物的一个组分，该复合物催化 N-乙酰葡糖胺 (GlcNAc) 从 UDP-GlcNAc 转移到磷脂酰肌醇 (PI) 。该基因位于 21 号染色体上唐氏综合症的关键区域，是唐氏综合症发病的候选基因。该基因具有多个假基因，是磷脂酰肌醇聚糖锚定生物合成基因家族的成员。已经描述了编码不同亚型的选择性剪接转录物变体。[RefSeq 提供，2016 年 2 月]

This gene encodes an Enzyme involved in the first step of glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. The encoded protein is a component of the GPI-N-acetylglucosaminyltransferase complex that catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). This gene is located in the Down Syndrome critical region on chromosome 21 and is a candidate for the pathogenesis of Down syndrome. This gene has multiple pseudogenes and is a member of the phosphatidylinositol glycan anchor biosynthesis gene family. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2016]

PIGP 基因产物(4)

mRNA	Protein	Name
NM_001320480.2	NP_001307409.1	phosphatidylinositol N-acetylglucosaminyltransferase subunit P isoform 2
NM_016430.4	NP_057514.2	phosphatidylinositol N-acetylglucosaminyltransferase subunit P isoform 3
NM_153681.2	NP_710148.1	phosphatidylinositol N-acetylglucosaminyltransferase subunit P isoform 1
NM_153682.3	NP_710149.1	phosphatidylinositol N-acetylglucosaminyltransferase subunit P isoform 2

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
contributes to phosphatidylinositol N-acetylglucosaminyltransferase activity	IDA IDA: 通过直接分析推断	10944123	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	10944123	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in GPI anchor biosynthetic process	IDA IDA: 通过直接分析推断	16162815	GOA
involved in GPI anchor biosynthetic process	IMP IMP: 通过突变表型推断	28334793	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in endoplasmic reticulum membrane	IDA IDA: 通过直接分析推断	16162815	GOA
part of glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex	IDA IDA: 通过直接分析推断	10944123	GOA
part of glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex	IPI IPI: 通过物理相互作用推断	16162815	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

PIGP 蛋白结构

PIG-P

0
100
158 a.a.

蛋白主名

其他名称

phosphatidylinositol N-acetylglucosaminyltransferase subunit P

Down syndrome critical region gene 5

PIGP 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	PIGP	P57054	SMAGP	Homo sapiens	Q0VAQ4	Validated Y2H	32296183
种属内	PIGP	P57054	NINJ2	Homo sapiens	Q9NZG7	Validated Y2H	32296183
种属内	PIGP	P57054	PLP1	Homo sapiens	P60201-2	Validated Y2H	32296183
种属内	PIGP	P57054	TMEM229B	Homo sapiens	Q8NBD8	Validated Y2H	32296183
种属内	PIGP	P57054	TMEM107	Homo sapiens	Q6UX40	Validated Y2H	32296183
种属内	PIGP	P57054	LHFPL3	Homo sapiens	Q86UP9	Validated Y2H	32296183
种属内	PIGP	P57054	PIGA	Homo sapiens	P37287	Anti Tag CoIP	33961781
种属内	PIGP	P57054	SCAMP5	Homo sapiens	Q8TAC9	Validated Y2H	32296183
种属内	PIGP	P57054	UBIAD1	Homo sapiens	Q9Y5Z9	Validated Y2H	32296183
种属内	PIGP	P57054	FIS1	Homo sapiens	Q9Y3D6	Validated Y2H	32296183
种属内	PIGP	P57054	DHRSX	Homo sapiens	Q8N5I4	Validated Y2H	32296183
种属内	PIGP	P57054	PLP2	Homo sapiens	Q04941	Validated Y2H	32296183
种属内	PIGP	P57054	IER3IP1	Homo sapiens	Q9Y5U9	Validated Y2H	32296183
种属内	PIGP	P57054	TMEM19	Homo sapiens	Q96HH6	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

Developmental And Epileptic Encephalopathy 55

DEE55	Glycosylphosphatidylinositol Biosynthesis Defect 14
Gpibd14	Epileptic Encephalopathy, Early Infantile, 55
Eiee55	Developmental And Epileptic Encephalopathy, 55
Early Infantile Epileptic Encephalopathy 55	Encephalopathy, Epileptic, Early Infantile, Type 55

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression	Early Infantile Epileptic Encephalopathy With Suppression Bursts
Eiee	Early Infantile Epileptic Encephalopathy With Suppression-Bursts
Ohtahara Syndrome	Encephalopathy, Epileptic, Early Infantile

Down Syndrome

Trisomy 21	Complete Trisomy 21 Syndrome
Down'S Syndrome	Trisomy 21 Syndrome
Down'S Syndrome - Trisomy 21	Downs Syndrome
G Trisomy	47,Xx,+21
47,Xy,+21	Trisomy G
Down Syndrome, Susceptibility To	Chromosome 21 Trisomy
Trisomy 21 Nos	Abnormal Autosomes 21

Anterior Segment Dysgenesis 4

Iridogoniodysgenesis Syndrome	Iridogoniodysgenesis, Type 2
Irid2	Iridogoniodysgenesis Type 2
ASGD4	Igds
Iris Hypoplasia With Early-Onset Glaucoma, Autosomal Dominant	Ihga
Irid 1	Irid 2
Iridogoniodysgenesis Type 1	Igds2
Iridogoniodysgenesis Syndrome 2	Iridogoniodysgenesis, Type 1

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4

MCAHS4	Glycosylphosphatidylinositol Biosynthesis Defect 19
Gpibd19	Developmental And Epileptic Encephalopathy 77
Epileptic Encephalopathy, Early Infantile, 77	Dee77
Eiee77	Developmental And Epileptic Encephalopathy, 77
Early Infantile Epileptic Encephalopathy 77	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome-4

Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome

Chime Syndrome	Zunich Neuroectodermal Syndrome
Zunich-Kaye Syndrome	CHIME
Glycosylphosphatidylinositol Biosynthesis Defect 5	Gpibd5
Coloboma-Congenital Heart Disease-Ichthyosiform Dermatosis-Intellectual Disability-Ear Anomalies Syndrome	Congenital Disorder Of Glycosylation Due To Pigl Deficiency
Neuroectodermal Dysplasia, Chime Type	Neuroectodermal Syndrome, Zunich Type
Pigl-Cdg	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability And Ear Anomalies Syndrome
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, And Ear Anomalies Syndrome

Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability

Congenital Muscular Dystrophy With Cataracts And Intellectual Disability

MDCCAID

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

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-RS10498	PIGP 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	PIGP	VGNC	VGNC:103697
Macaca mulatta	PIGP	VGNC	VGNC:81739
Rattus norvegicus	PIGP	RGD	RGD:1307205
Mus musculus	PIGP	MGD	MGI:1860433

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