EMG1 - EMG1 N1-specific pseudouridine methyltransferase Gene

Also Known as C2F; NEP1; Grcc2f

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10436

About EMG1

Cytogenetic location: 12p13.31 Genomic coordinates (GRCh38): 12:6,970,913-6,997,428 (from NCBI)

This gene has 4 transcripts (splice variants), 212 orthologues and is associated with 3 phenotypes. Ubiquitous expression in appendix (RPKM 11.6), lymph node (RPKM 11.5) and 25 other tissues.

Summary

This gene encodes an essential, conserved eukaryotic protein that methylates pseudouridine in 18S rRNA. The related protein in yeast is a component of the small subunit processome and is essential for biogenesis of the ribosomal 40S subunit. A mutation in this gene has been associated with Bowen-Conradi syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

EMG1 Products (2)

mRNA	Protein	Name
NM_001320049.2	NP_001306978.1	ribosomal RNA small subunit methyltransferase NEP1 isoform 2
NM_006331.8	NP_006322.4	ribosomal RNA small subunit methyltransferase NEP1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables rRNA (pseudouridine) methyltransferase activity	IDA IDA: Inferred from direct assay	20047967	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in ribosomal small subunit biogenesis	IDA IDA: Inferred from direct assay	34516797	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of small-subunit processome	IDA IDA: Inferred from direct assay	34516797	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

Protein Preferred Names	Protein Names
ribosomal RNA small subunit methyltransferase NEP1	18S rRNA (pseudouridine(1248)-N1)-methyltransferase

EMG1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	EMG1	Q92979	FAM74A4	Homo sapiens	Q5TZK3	Validated Y2H	25416956
Intra	EMG1	Q92979	FAM74A4	Homo sapiens	Q5TZK3	Y2H Array	25416956
Intra	EMG1	Q92979	ZNF768	Homo sapiens	Q9H5H4	Y2H Prey Pooling	32296183
Intra	EMG1	Q92979	ZNF768	Homo sapiens	Q9H5H4	Validated Y2H	32296183
Intra	EMG1	Q92979	ZNF768	Homo sapiens	Q9H5H4	Y2H Array	32296183
Intra	EMG1	Q92979	HSD3B7	Homo sapiens	Q9H2F3	Validated Y2H	32296183
Intra	EMG1	Q92979	EMG1	Homo sapiens	Q92979	Validated Y2H	32296183
Intra	EMG1	Q92979	CTSE	Homo sapiens	P14091	Y2H Pooling	16169070
Intra	EMG1	Q92979	EMG1	Homo sapiens	Q92979	Y2H Array	32296183
Intra	EMG1	Q92979	PSMB7	Homo sapiens	Q99436	Y2H Pooling	16169070
Intra	EMG1	Q92979	HIVEP1	Homo sapiens	P15822	Y2H Pooling	16169070
Intra	EMG1	Q92979	KHDRBS1	Homo sapiens	Q07666	Y2H Pooling	16169070
Intra	EMG1	Q92979	ANXA3	Homo sapiens	P12429	Y2H Pooling	16169070
Intra	EMG1	Q92979	PSME1	Homo sapiens	Q06323	Y2H Pooling	16169070
Intra	EMG1	Q92979	SLC25A38	Homo sapiens	Q96DW6	Y2H Pooling	16169070
Intra	EMG1	Q92979	EMG1	Homo sapiens	Q92979	Y2H Prey Pooling	32296183
Intra	EMG1	Q92979	NAA80	Homo sapiens	Q93015	Y2H Pooling	16169070

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Bowen-Conradi Syndrome	BWCNS Bowen Hutterite Syndrome Bowen-Conradi Hutterite Syndrome Bowen Syndrome, Hutterite Type Bowen Hutterite Syndrome, Formerly Hutterite Syndrome Bowen Syndrome Hutterite Type Fetal Growth Retardation
Deafness, Autosomal Recessive 9	Auditory Neuropathy, Autosomal Recessive, 1 Neurosensory Nonsyndromic Recessive Deafness 9 DFNB9 Nsrd9 Autosomal Recessive Nonsyndromic Deafness 9 Autosomal Recessive Deafness 9 Nrsd9 AUNB1 Nonsyndromic Auditory Neuropathy Autosomal Recessive Nsran Deafness, Autosomal Recessive, 9 Deafness Neurosensory Autosomal Recessive 9 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 9 Non-Syndromic Recessive Hearing Loss 9 Deafness, Autosomal Recessive, Type 9 Auditory Neuropathy, Nonsyndromic Recessive
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Ane Syndrome ANES Alopecia-Progressive Neurological Defect-Endocrinopathy Syndrome Alopecia-Progressive Neurological Defect-Endocrinopathy Endocrine System Diseases
Atypical Polypoid Adenomyoma
Anauxetic Dysplasia 1	Anauxetic Dysplasia Spondylometaepiphyseal Dysplasia, Menger Type Spondylometaepiphyseal Dysplasia, Anauxetic Type Spondyloepimetaphyseal Dysplasia, Anauxetic Type ANXD1 Anxd Spondylometaepiphyseal Dysplasia Anauxetic Type Spondylometaepiphyseal Dysplasia Menger Type Ad Spondyloepimetaphyseal Dysplasia, Menger Type Dysplasia, Anauxetic, Type 1
Shwachman-Diamond Syndrome 1	Shwachman-Diamond Syndrome Shwachman Syndrome Shwachman-Bodian-Diamond Syndrome Sds Pancreatic Insufficiency And Bone Marrow Dysfunction Shwachman-Bodian Syndrome SDS1 Lipomatosis Of Pancreas, Congenital Congenital Lipomatosis Of Pancreas Shwachman-Diamond Type Metaphyseal Dysplasia Metaphyseal Chondrodysplasia, Shwachman Type Shwachman-Diamond-Oski Syndrome
Autosomal Recessive Nonsyndromic Deafness	Deafness, Autosomal Recessive, Nonsyndromic
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Diamond-Blackfan Anemia	Congenital Pure Red Cell Aplasia Aase Syndrome Erythrogenesis Imperfecta Anemia, Diamond-Blackfan Congenital Hypoplastic Anemia Aase-Smith Ii Syndrome Bds Blackfan-Diamond Anemia Congenital Prca Congenital Hypoplastic Anemia, Blackfan-Diamond Type Dba Blackfan - Diamond Syndrome Chronic Constitutional Pure Red Cell Anaemia Anemia Diamond Blackfan Type Anemia Congenital Erythroid Hypoplastic Aregenerative Anemia Chronic Congenital Blackfan Diamond Syndrome Red Cell Aplasia, Pure Hereditary Aase-Smith Syndrome Ii Bda Blackfan Diamond Anemia Blackfan-Diamond Disease Blackfan-Diamond Syndrome Chronic Congenital Agenerative Anemia Congenital Erythroid Hypoplastic Anemia Congenital Hypoplastic Anemia Of Blackfan And Diamond Congenital Pure Red Cell Anemia Hypoplastic Congenital Anemia Inherited Erythroblastopenia Pure Hereditary Red Cell Aplasia Anemia, Hypoplastic, Congenital Anemia Hypoplastic Congenital Fanconi Anemia Constitutional Aplastic Anemia Diamond-Blackfan Anemia 1 Aase Smith Syndrome 2 Congenital Red Cell Aplasia Red Cell Aplasia Of Infants Pure Red Cell Aplasia Of Infants Congenital Red Cell Aplastic Anaemia Congenital Pure Red Cell Anaemia Congenital Erythroid Hypoplasia Pearson Marrow-Pancreas Syndrome
Dyskeratosis Congenita	Dyskeratosis Congenita Autosomal Dominant Dc Dkc Zinsser-Engman-Cole Syndrome Dyskeratosis Congenita, Autosomal Dominant Autosomal Dominant Dyskeratosis Congenita Dkca Dyskeratosis Congenita Scoggins Type Zinsser-Cole-Engman Syndrome X-Linked Dyskeratosis Congenita Hoyeraal-Hreidarsson Syndrome
Williams-Beuren Syndrome	Williams Syndrome WBS Wms Deletion 7q11.23 Monosomy 7q11.23 Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb Fanconi Schlesinger Syndrome Beuren Syndrome Elfin Facies Syndrome Elfin Facies With Hypercalcemia Hypercalcemia-Supravalvar Aortic Stenosis Ws

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04348	EMG1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19595	Emg1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26091	Emg1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	EMG1	VGNC	VGNC:61843
Bos taurus	EMG1	VGNC	VGNC:58013
Mus musculus	EMG1	MGD	MGI:1315195
Rattus norvegicus	EMG1	RGD	RGD:1307665
Canis familiaris	EMG1	VGNC	VGNC:58012
Macaca mulatta	EMG1	VGNC	VGNC:72057
Others	EMG1	NCBI