2. Gene
  3. PIGT - phosphatidylinositol glycan anchor biosynthesis class T Gene

PIGT - phosphatidylinositol glycan anchor biosynthesis class T 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类 T

种属: Homo sapiens

同用名: NDAP; PNH2; PIG-T; CGI-06; MCAHS3

基因 ID: 51604 | 基因类型: protein coding

关于 PIGT

Cytogenetic location: 20q13.12 Genomic coordinates (GRCh38): 20:45,416,141-45,426,241 (from NCBI)

This gene has 77 transcripts (splice variants), 211 orthologues and is associated with 4 phenotypes. Ubiquitous expression in heart (RPKM 45.9), colon (RPKM 41.3) 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。这种蛋白质是多亚基酶 GPI 转酰胺酶的重要组成部分。 GPI 转酰胺酶通过催化完全组装的 GPI 单位向蛋白质的转移，介导 GPI 在内质网中的锚定。已经观察到该基因编码多种亚型的可变剪接转录物变体。[RefSeq 提供，2012 年 5 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 an essential component of the multisubunit Enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]

PIGT 基因产物(4)

mRNA Protein Name
NM_001184728.3 NP_001171657.1 GPI transamidase component PIG-T isoform 2 precursor
NM_001184729.3 NP_001171658.1 GPI transamidase component PIG-T isoform 3 precursor
NM_001184730.3 NP_001171659.1 GPI transamidase component PIG-T isoform 4 precursor
NM_015937.6 NP_057021.2 GPI transamidase component PIG-T isoform 1 precursor
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
11483512 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of GPI-anchor transamidase complex IDA
IDA: 通过直接分析推断
11483512 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

PIGT 蛋白结构

Gpi16

Gpi16: Gpi16 subunit, GPI transamidase component (28 - 248)

Gpi16

Gpi16: Gpi16 subunit, GPI transamidase component (253 - 555)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 578 a.a.
蛋白主名 其他名称

GPI transamidase component PIG-T

GPI transamidase subunit

PIGT 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
PIGT Q969N2 PIGS Homo sapiens Q96S52
Anti Tag CoIP
33961781
种属内
PIGT Q969N2 PIGS Homo sapiens Q96S52
Anti Tag CoIP
11483512
种属内
PIGT Q969N2 GPAA1 Homo sapiens O43292
Anti Tag CoIP
11483512
种属内
PIGT Q969N2 GPAA1 Homo sapiens O43292
Anti Tag CoIP
33961781
种属内
PIGT Q969N2 PIGK Homo sapiens Q92643
Anti Tag CoIP
11483512
种属内
PIGT Q969N2 PIGK Homo sapiens Q92643
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
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3

MCAHS3

Glycosylphosphatidylinositol Biosynthesis Defect 7

Gpibd7

Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome

Congenital Disorder Of Glycosylation Due To Pigt Deficiency

Mcahs Type 3

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 3

Pigt-Cdg

Multiple Congenital Anomalies, Hypotonia, Seizures Syndrome, Type 3
Paroxysmal Nocturnal Hemoglobinuria 2

PNH2

Hemoglobinuria, Nocturnal, Paroxysmal, Type 2
Paroxysmal Nocturnal Hemoglobinuria

Marchiafava-Micheli Disease

Pnh

Hemoglobinuria, Paroxysmal

Marchiafava-Micheli Syndrome

Paroxysmal Hemoglobinuria Nocturnal

Nocturnal Haemoglobinuria

Nocturnal Paroxysmal Haematuria

Nocturnal Paroxysmal Haemoglobinaemia
Hemoglobinuria
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome

Pign-Cdg

Congenital Disorder Of Glycosylation Due To Pign Deficiency

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1

Mcahs1
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
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1

MCAHS1

Glycosylphosphatidylinositol Biosynthesis Defect 3

Gpibd3

Multiple Congenital Anomalies, Hypotonia, Seizures Syndrome, Type 1
Bleeding Disorder, Platelet-Type, 9

Platelet-Type Bleeding Disorder 9

Glycoprotein Ia Deficiency

BDPLT9

Gp Ia Deficiency

Collagen Platelet Receptor Deficiency

Bleeding Diathesis Due To Integrin Alpha2-Beta1 Deficiency

Bleeding Disorder, Platelet Type 9
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
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
Salt And Pepper Syndrome

Salt & Pepper Syndrome

Salt-And-Pepper Syndrome
Hemolytic Anemia

Anemia, Hemolytic

Anemia Hemolytic

Anaemia Due To Other Disorders Of Glutathione Metabolism

Chronic Non Spherocytic Anaemia

G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia

Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency

Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia

Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia

Favism Anaemia

Haemolytic Anaemia Due Tog6pd Deficiency

Favism

Pentose Phosphate Pathway Disorder Anaemia

Anaemia Due To Pentose Phosphate Pathway Defect
Hypophosphatasia

Phosphoethanolaminuria

Childhood Hypophosphatasia

Deficiency Of Alkaline Phosphatase

Hypophospatasia, Childhood

Hypophosphatasia Mild

Phosphoethanol-Aminuria

Rathburn Disease

Hpp

Rathbun Disease

Hypophosphatasia, Childhood

Infantile Hypophosphatasia
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
Childhood Absence Epilepsy

Pyknolepsy

Petit Mal Epilepsy

Absence Seizures

Absence Seizure

Petit Mal Seizure

Absence Epilepsy, Childhood

Pykno-Epilepsy

Epilepsy, Absence

Absence Epilepsy

Pycnolepsy
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-RS10502 PIGT 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 PIGT VGNC VGNC:32878
Felis catus PIGT VGNC VGNC:64168
Canis familiaris PIGT VGNC VGNC:44542
Mus musculus PIGT MGD MGI:1926178
Macaca mulatta PIGT VGNC VGNC:75801
Rattus norvegicus PIGT RGD RGD:1307156
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