PGAP3 - post-GPI attachment to proteins phospholipase 3 Gene

中文名称：GPI 后附着于蛋白磷脂酶 3

种属: Homo sapiens

同用名: CAB2; PERLD1; PP1498; hCOS16; AGLA546

基因 ID: 93210 | 基因类型: protein coding

关于 PGAP3

Cytogenetic location: 17q12 Genomic coordinates (GRCh38): 17:39,671,122-39,688,057 (from NCBI)

This gene has 11 transcripts (splice variants), 200 orthologues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 14.6), skin (RPKM 9.4) and 25 other tissues.

功能概要

该基因编码糖基磷脂酰肌醇 (GPI) 特异性磷脂酶，主要定位于高尔基体。预计这种普遍表达的基因编码一种七次跨膜蛋白，可从 GPI 的 sn-2 位置去除不饱和脂肪酸。 GPI 上组成脂肪酸的重塑被认为对于 GPI 锚定蛋白和脂筏之间的正确结合很重要。蛋白质通过翻译后 GPI 锚定与质膜的连接被认为在蛋白质分选和运输中发挥作用。该基因的突变导致常染色体隐性遗传形式的神经性高磷酸酯酶症伴认知障碍 (HPMRS4) 。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供，2017 年 7 月]

This gene encodes a glycosylphosphatidylinositol (GPI)-specific Phospholipase that primarily localizes to the Golgi apparatus. This ubiquitously expressed gene is predicted to encode a seven-transmembrane protein that removes unsaturated fatty acids from the sn-2 position of GPI. The remodeling of the constituent fatty acids on GPI is thought to be important for the proper association between GPI-anchored proteins and lipid rafts. The tethering of proteins to plasma membranes via posttranslational GPI-anchoring is thought to play a role in protein sorting and trafficking. Mutations in this gene cause an autosomal recessive form of neurologic hyperphosphatasia with cognitive disability (HPMRS4). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]

PGAP3 基因产物(6)

mRNA	Protein	Name
NM_001291726.2	NP_001278655.1	post-GPI attachment to proteins factor 3 isoform 2 precursor
NM_001291728.2	NP_001278657.1	post-GPI attachment to proteins factor 3 isoform 3 precursor
NM_001291730.2	NP_001278659.1	post-GPI attachment to proteins factor 3 isoform 4 precursor
NM_001291732.2	NP_001278661.1	post-GPI attachment to proteins factor 3 isoform 5 precursor
NM_001291733.2	NP_001278662.1	post-GPI attachment to proteins factor 3 isoform 6 precursor
NM_033419.5	NP_219487.3	post-GPI attachment to proteins factor 3 isoform 1 precursor

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
enables hydrolase activity, acting on ester bonds	IMP IMP: 通过突变表型推断	17021251	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	32814053	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in GPI anchor biosynthetic process	IMP IMP: 通过突变表型推断	29374258	GOA
involved in GPI anchor metabolic process	IMP IMP: 通过突变表型推断	17021251	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	12460457	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

PGAP3 蛋白结构

Per1

0
100
200
300
320 a.a.

蛋白主名

其他名称

post-GPI attachment to proteins factor 3

COS16 homolog

PGAP3 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	PGAP3	Q96FM1	GTF3C3	Homo sapiens	Q9Y5Q9	Y2H Array	32814053
种属内	PGAP3	Q96FM1	GTF3C3	Homo sapiens	Q9Y5Q9	Y2H Pooling	32814053
种属内	PGAP3	Q96FM1	GTF3C3	Homo sapiens	Q9Y5Q9	Validated Y2H	32814053
种属内	PGAP3	Q96FM1	TBRG4	Homo sapiens	Q969Z0	Anti Tag CoIP	33961781

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

Hyperphosphatasia With Mental Retardation Syndrome 4

Hyperphosphatasia With Intellectual Disability Syndrome 4	HPMRS4
Glycosylphosphatidylinositol Biosynthesis Defect 10	Gpibd10
Hyperphosphatasia, With Mental Retardation Syndrome, Type 4

Diaphragmatic Hernia, Congenital

Congenital Diaphragmatic Hernia	Diaphragmatic Hernia
Cdh	Congenital Diaphragmatic Defect
Hernia, Diaphragmatic	Dih
Hernia, Congenital Diaphragmatic	Hcd
Diaphragmatic Defect, Congenital	Diaphragm, Unilateral Agenesis Of
Hemidiaphragm, Agenesis Of	Diaphragmatic Hernia 1
Agenesis Of Hemidiaphragm	Unilateral Agenesis Of Diaphragm
Hernia Diaphragmatic	Hernia Diaphragmatic Congenital
Hernia, Diaphragmatic, Type 1	Hiatus Hernia
Oesophageal Hiatus Hernia	Paraoesophageal Hernia
Sliding Hiatus Hernia	Congenital Diaphragm Hernia
Congenital Diaphragm Defect With Hernia	Gross Congenital Diaphragm Defect

Hyperphosphatasia-Intellectual Disability Syndrome

Mabry Syndrome

Hyperphosphatasia With Mental Retardation

Cleft Palate, Isolated

Cleft Palate	Isolated Cleft Palate
CPI	Cp
Palatoschisis	Cleft Palate Isolated
Uranostaphyloschisis	Congenital Fissure Of Palate
Cleft Of Secondary Palate

Gestational Ovarian Choriocarcinoma

Non-Gestational Ovarian Choriocarcinoma

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

Choriocarcinoma Of Ovary

Ovarian Choriocarcinoma

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome

Pign-Cdg	Congenital Disorder Of Glycosylation Due To Pign Deficiency
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Mcahs1

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 1

MCAHS1	Glycosylphosphatidylinositol Biosynthesis Defect 3
Gpibd3	Multiple Congenital Anomalies, Hypotonia, Seizures Syndrome, Type 1

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2

MCAHS2	Glycosylphosphatidylinositol Biosynthesis Defect 4
Developmental And Epileptic Encephalopathy 20	Epileptic Encephalopathy, Early Infantile, 20
Eiee20	Gpibd4
Early Infantile Epileptic Encephalopathy 20	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 2
Mcahs Type 2	Dee20
Fccs	Ferro-Cerebro-Cutaneous Syndrome
Multiple Congenital Anomalies, Hypotonia, Seizures Syndrome, Type 2

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

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

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-RS10378	PGAP3 Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	PGAP3	VGNC	VGNC:64120
Bos taurus	PGAP3	VGNC	VGNC:32783
Mus musculus	PGAP3	MGD	MGI:2444461
Macaca mulatta	PGAP3	VGNC	VGNC:75853
Canis familiaris	PGAP3	VGNC	VGNC:44454
Rattus norvegicus	PGAP3	RGD	RGD:1592386

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