2. Gene
  3. EOGT - EGF domain specific O-linked N-acetylglucosamine transferase Gene

EOGT - EGF domain specific O-linked N-acetylglucosamine transferase Gene

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

中文名称：EGF 结构域特异性 O-连接的 N-乙酰葡糖胺转移酶

种属: Homo sapiens

同用名: AOS4; AER61; EOGT1; C3orf64

基因 ID: 285203 | 基因类型: protein coding

关于 EOGT

Cytogenetic location: 3p14.1 Genomic coordinates (GRCh38): 3:68,975,225-69,013,684 (from NCBI)

This gene has 10 transcripts (splice variants), 210 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in lung (RPKM 8.1), prostate (RPKM 7.4) and 25 other tissues.

功能概要

该基因编码一种酶，该酶作用于内质网腔，催化 N-乙酰葡糖胺转移至细胞外靶向蛋白的丝氨酸或苏氨酸残基。这种酶修饰含有真核生长因子 (EGF) 样结构域的蛋白质，包括 Notch 受体，从而调节发育信号。在患有 Adams-Oliver 综合征 4 的个体中观察到该基因的突变。可变剪接导致多个转录变体。[RefSeq 提供，2015 年 8 月]

This gene encodes an enzyme that acts in the lumen of the endoplasmic reticulum to catalyze the transfer of N-acetylglucosamine to serine or threonine residues of extracellular-targeted proteins. This enzyme modifies proteins containing eukaryotic growth factor (EGF)-like domains, including the Notch receptor, thereby regulating developmental signalling. Mutations in this gene have been observed in individuals with Adams-Oliver syndrome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]

EOGT 基因产物(2)

mRNA Protein Name
NM_001278689.2 NP_001265618.1 EGF domain-specific O-linked N-acetylglucosamine transferase isoform a precursor
NM_173654.3 NP_775925.1 EGF domain-specific O-linked N-acetylglucosamine transferase isoform b precursor
基因本体论
  • 分子功能
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
32296183 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

EOGT 蛋白结构

DUF563

DUF563: Protein of unknown function (DUF563) (245 - 470)

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

EGF domain-specific O-linked N-acetylglucosamine transferase

AER61 glycosyltransferase

EOGT 抗体

目录号 产品名 应用 反应物种
HY-P82270 AER61 Antibody (YA2015) WB Human, Rat

关联疾病

疾病名称 别名
Adams-Oliver Syndrome 4

AOS4

Adams-Oliver Syndrome, Type 4
Adams-Oliver Syndrome

Adams Oliver Syndrome

Aos

Congenital Scalp Defects With Distal Limb Reduction Anomalies

Aplasia Cutis Congenita With Terminal Transverse Limb Defects

Congenital Scalp Defects With Distal Limb Anomalies

Limb, Scalp And Skull Defects

Limb Scalp And Skull Defects

Absence Defect Of Limbs, Scalp, And Skull
Oliver Syndrome

Postaxial Polydactyly-Intellectual Disability Syndrome

Postaxial Polydactyly And Mental Retardation
Spondylocostal Dysostosis 3, Autosomal Recessive

SCDO3

Spondylocostal Dysostosis, Autosomal Recessive 3

Spondylocostal Dysostosis 3

Autosomal Recessive Spondylocostal Dysostosis 3

Doid:0112361

Dysostosis, Spondylocostal, Autosomal Recessive, Type 3

Jarcho-Levin Syndrome
Nemaline Myopathy 10

NEM10

Myopathy, Nemaline, Type 10
Aplasia Cutis Congenita

Aplasia Cutis Congenita Of Limbs Recessive

Congenital Absence Of Skin On The Upper Or Lower Limbs

Recessive Aplasia Cutis Congenita Of The Limbs

Aplasia Cutis Congenita Nonsyndromic

Congenital Defect Of Skull And Scalp

Scalp Defect Congenital
Lateral Meningocele Syndrome

Lehman Syndrome

Lms

LMNS

Meningocele, Lateral Syndrome
Dowling-Degos Disease

Reticular Pigment Anomaly Of Flexures

Dark Dot Disease

Reticulate Acropigmentation Of Kitamura

Dowling-Degos Kitamura Disease

Kitamura Reticulate Acropigmentation

Ddd

Dowling-Degos-Kitamura Disease

Reticular Pigmented Anomaly Of Flexures
Bilateral Generalized Polymicrogyria

Bilateral Generalised Polymicrogyria
Spondylocostal Dysostosis

Jarcho-Levin Syndrome

Costovertebral Dysplasia

Spondylothoracic Dysostosis

Spondylothoracic Dysplasia

Scdo

Dysostosis, Spondylocostal
Chromosome 22q11.2 Duplication Syndrome

Chromosome 22q11.2 Microduplication Syndrome

22q11.2 Microduplication Syndrome

22q11.2 Duplication Syndrome

Duplication 22q11.2

Trisomy 22q11.2

22q11.2 Duplication

Dup(22)(Q11)
Galloway-Mowat Syndrome

Galloway Mowat Syndrome

Galloway Syndrome

Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type

Microcephaly Nephrosis Syndrome

Microcephaly, Hiatal Hernia, And Nephrotic Syndrome

Nephrosis Neuronal Dysmigration Syndrome

Microcephaly-Hiatus Hernia-Nephrotic Syndrome

Nephrosis-Neuronal Dysmigration Syndrome
Chromosome 22q11.2 Deletion Syndrome, Distal

22q11.2 Deletion Syndrome

Autosomal Dominant Opitz G/Bbb Syndrome

Catch22

Cayler Cardiofacial Syndrome

Conotruncal Anomaly Face Syndrome

Digeorge Syndrome

Sedlackova Syndrome

Shprintzen Syndrome

Velocardiofacial Syndrome

22q11.2 Distal Deletion Syndrome

Distal 22q11.2 Microdeletion Syndrome

22q11.2ds

Vcfs

Velo-Cardio-Facial Syndrome

Distal Chromosome 22q11.2 Deletion Syndrome

Chromosome 22q11.2 Deletion Syndrome Distal

Chromosome 22q11.2 Deletion Syndrome

Deletion 22q11.2 Syndrome

22q11ds

Catch 22

Digeorge Sequence

Microdeletion 22q11.2

Monosomy 22q11

Takao Syndrome

Distal Del(22)(Q11.2)

Distal Monosomy 22q11.2

Catch 22 Syndrome

Chromosome Deletion Syndrome 22q11.2, Distal
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-RS04403 EOGT 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 EOGT VGNC VGNC:28515
Rattus norvegicus EOGT RGD RGD:1359357
Macaca mulatta EOGT VGNC VGNC:72131
Mus musculus EOGT MGD MGI:2141669
Felis catus EOGT VGNC VGNC:61887
Canis familiaris EOGT VGNC VGNC:40388
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