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

Also Known as AOS4; AER61; EOGT1; C3orf64

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 285203

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EOGT Protein Structure

DUF563

0
100
200
300
400
500
527 a.a.

Protein Preferred Names	Protein Names
EGF domain-specific O-linked N-acetylglucosamine transferase	AER61 glycosyltransferase

EOGT Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82270	AER61 Antibody (YA2015)	WB	Human, Rat
HY-P82270A	AER61 Antibody (YA2015)(PBS only)	WB	Human, Rat

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04403	EOGT Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	EOGT	NCBI