2. Gene
  3. PIGN - phosphatidylinositol glycan anchor biosynthesis class N Gene

PIGN - phosphatidylinositol glycan anchor biosynthesis class N Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：磷脂酰肌醇聚糖锚生物合成 N 类

种属: Homo sapiens

同用名: MCD4; MDC4; MCAHS; PIG-N; MCAHS1

基因 ID: 23556 | 基因类型: protein coding

关于 PIGN

Cytogenetic location: 18q21.33 Genomic coordinates (GRCh38): 18:62,017,615-62,187,056 (from NCBI)

This gene has 51 transcripts (splice variants), 215 orthologues and is associated with 5 phenotypes. Ubiquitous expression in esophagus (RPKM 8.5), thyroid (RPKM 7.2) 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) 锚生物合成的蛋白质。 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。该蛋白在内质网中表达，并将磷酸乙醇胺 (EtNP) 转移至 GPI 锚的第一个甘露糖。已经报道了编码相同亚型的两种可变剪接变体。[RefSeq 提供，2008 年 7 月]

This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is expressed in the endoplasmic reticulum and transfers phosphoethanolamine (EtNP) to the first mannose of the GPI anchor. Two alternatively spliced variants, which encode an identical isoform, have been reported. [provided by RefSeq, Jul 2008]

PIGN 基因产物(2)

mRNA Protein Name
NM_012327.6 NP_036459.1 GPI ethanolamine phosphate transferase 1
NM_176787.5 NP_789744.1 GPI ethanolamine phosphate transferase 1

PIGN 蛋白结构

Phosphodiest

Phosphodiest: Type I phosphodiesterase / nucleotide pyrophosphatase (46 - 324)

PigN

PigN: Phosphatidylinositolglycan class N (PIG-N) (430 - 884)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 931 a.a.
蛋白主名 其他名称

GPI ethanolamine phosphate transferase 1

MCD4 homolog

关联疾病

疾病名称 别名
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

Pign-Cdg

Congenital Disorder Of Glycosylation Due To Pign Deficiency

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1

Mcahs1
Fryns Syndrome

Diaphragmatic Hernia, Abnormal Face, And Distal Limb Anomalies

FRNS

Moerman Van Den Berghe Fryns Syndrome

Diaphragmatic Hernia-Abnormal Face-Distal Limb Anomalies Syndrome

Nephrotic Syndrome - Frequently Relapsing
Alkuraya-Kucinskas Syndrome

ALKKUCS

Kiaa1109-Related Early Lethal Congenital Brain Malformations-Arthrogryposis Syndrome

Arthrogryposis
Hypotonia
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
Developmental And Epileptic Encephalopathy 80

DEE80

Glycosylphosphatidylinositol Biosynthesis Defect 20

Gpibd20

Epileptic Encephalopathy, Early Infantile, 80

Eiee80

Developmental And Epileptic Encephalopathy, 80

Early Infantile Epileptic Encephalopathy 80
Diaphragm Disease

Abnormality Of The Diaphragm

Disease Of Diaphragm

Diaphragmatic Disorder

Disorder Of Diaphragm
Dihydropyrimidinase Deficiency

Dihydropyrimidinuria

Dpys Deficiency

Dph Deficiency

DPYSD

Dihydrouracil Amidohydrolase Deficiency

Dihydropyrimidinuria Due To Dpys Deficiency
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
Agnathia-Otocephaly Complex

Otocephaly

Holoprosencephaly-Agnathia

Dysgnathia Complex Agnathia-Holoprosencephaly

AGOTC

Agnathia-Holoprosencephaly-Situs Inversus Syndrome

Dysgnathia Complex

Agnathia-Holoprosencephaly

Cervical Auricle
Familial Febrile Seizures

Familial Febrile Convulsions

Feb

Febrile Seizures, Familial
Autosomal Recessive Intellectual Developmental Disorder

Mental Retardation, Autosomal Recessive

Autosomal Recessive Mental Retardation

Autosomal Recessive Non-Syndromic Mental Retardation

Autosomal Recessive Non-Syndromic Intellectual Disability
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS10496 PIGN Human 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 PIGN VGNC VGNC:32873
Rattus norvegicus PIGN RGD RGD:1311346
Felis catus PIGN VGNC VGNC:68847
Canis familiaris PIGN VGNC VGNC:44538
Mus musculus PIGN MGD MGI:1351629
Macaca mulatta PIGN VGNC VGNC:75990
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