2. Gene
  3. GPAA1 - glycosylphosphatidylinositol anchor attachment 1 Gene

GPAA1 - glycosylphosphatidylinositol anchor attachment 1 Gene

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

中文名称：糖基磷脂酰肌醇锚定附件 1

种属: Homo sapiens

同用名: GAA1; hGAA1; GPIBD15

基因 ID: 8733 | 基因类型: protein coding

关于 GPAA1

Cytogenetic location: 8q24.3 Genomic coordinates (GRCh38): 8:144,082,634-144,086,216 (from NCBI)

This gene has 72 transcripts (splice variants), 195 orthologues and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 27.5), thyroid (RPKM 25.6) and 25 other tissues.

功能概要

翻译后糖基磷脂酰肌醇 (GPI) 锚定附件是将蛋白质连接到细胞表面膜的一般机制。由该基因编码的蛋白质可能在 GPI 转移步骤的 GPI 锚定中起作用。 mRNA 转录本在胎儿和成人组织中普遍表达。锚附着蛋白 1 包含一个 N 末端信号序列、1 个 cAMP 和 cGMP 依赖性蛋白激酶磷酸化位点、1 个亮氨酸拉链模式、2 个潜在的 N-糖基化位点和 8 个假定的跨膜结构域。[RefSeq 提供，2008 年 7 月]

Posttranslational glycosylphosphatidylinositol (GPI) anchor attachment serves as a general mechanism for linking proteins to the cell surface membrane. The protein encoded by this gene presumably functions in GPI anchoring at the GPI transfer step. The mRNA transcript is ubiquitously expressed in both fetal and adult tissues. The anchor attachment protein 1 contains an N-terminal signal sequence, 1 cAMP- and cGMP-dependent protein kinase phosphorylation site, 1 leucine zipper pattern, 2 potential N-glycosylation sites, and 8 putative transmembrane domains. [provided by RefSeq, Jul 2008]

GPAA1 基因产物(1)

mRNA Protein Name
NM_003801.4 NP_003792.1 glycosylphosphatidylinositol anchor attachment 1 protein
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 GPI anchor binding IMP
IMP: 通过突变表型推断
14660601 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10793132 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in protein-containing complex assembly IMP
IMP: 通过突变表型推断
14660601 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
part of GPI-anchor transamidase complex IPI
IPI: 通过物理相互作用推断
12802054 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

GPAA1 蛋白结构

Gaa1

Gaa1: Gaa1-like, GPI transamidase component (124 - 621)

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

glycosylphosphatidylinositol anchor attachment 1 protein

GAA1 protein homolog

GPAA1 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
GPAA1 O43292 PIGT Homo sapiens Q969N2
TAP
11483512
种属内
GPAA1 O43292 PIGT Homo sapiens Q969N2
Anti Tag CoIP
11483512
种属内
GPAA1 O43292 PIGT Homo sapiens Q969N2
Anti Tag CoIP
33961781
种属内
GPAA1 O43292 PIGT Homo sapiens Q969N2
Anti Tag CoIP
28514442
种属内
GPAA1 O43292 PIGK Homo sapiens Q92643
TAP
11483512
种属内
GPAA1 O43292 PIGK Homo sapiens Q92643
Anti Tag CoIP
11483512
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
Glycosylphosphatidylinositol Biosynthesis Defect 15

GPIBD15

Developmental Delay, Epilepsy, Cerebellar Atrophy, And Osteopenia

Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome

Gpaa1-Related Biosynthesis Defect

Glycosylphosphatidylinositol Biosynthesis Defect, Type 15
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
Autosomal Recessive Cerebellar Ataxia

Arca
Hereditary Ataxia

Sca

Spinocerebellar Ataxia

Ataxias Hereditary

Ataxias, Hereditary
Cerebellar Disease

Cerebellar Diseases

Cerebellar Dysfunction

Cerebellar Abnormality

Cerebellar Disorders
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

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-RS05614 GPAA1 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus GPAA1 RGD RGD:1303197
Bos taurus GPAA1 VGNC VGNC:29508
Felis catus GPAA1 VGNC VGNC:67401
Macaca mulatta GPAA1 VGNC VGNC:73116
Canis familiaris GPAA1 VGNC VGNC:41358
Mus musculus GPAA1 MGD MGI:1202392
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