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Entry version 174 (13 Nov 2019)
Sequence version 4 (23 Jan 2007)
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Protein

Ribosomal RNA small subunit methyltransferase NEP1

Gene

EMG1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

S-adenosyl-L-methionine-dependent pseudouridine N1-methyltransferase that methylates pseudouridine at position 1248 (Psi1248) in 18S rRNA. Involved the biosynthesis of the hypermodified N1-methyl-N3-(3-amino-3-carboxypropyl) pseudouridine (m1acp3-Psi) conserved in eukaryotic 18S rRNA. Is not able to methylate uridine at this position (PubMed:20047967). Has also an essential role in 40S ribosomal subunit biogenesis independent on its methyltransferase activity, facilitating the incorporation of ribosomal protein S19 during the formation of pre-ribosomes (By similarity).By similarity1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei86Stabilizes Arg-84By similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei176S-adenosyl-L-methionine; via carbonyl oxygenBy similarity1
Binding sitei201S-adenosyl-L-methionine; via amide nitrogenBy similarity1
Binding sitei206S-adenosyl-L-methionine; via carbonyl oxygenBy similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionMethyltransferase, RNA-binding, rRNA-binding, Transferase
Biological processRibosome biogenesis, rRNA processing
LigandS-adenosyl-L-methionine

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
2.1.1.257 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-6790901 rRNA modification in the nucleus and cytosol
R-HSA-6791226 Major pathway of rRNA processing in the nucleolus and cytosol

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Ribosomal RNA small subunit methyltransferase NEP11 Publication (EC:2.1.1.-1 Publication)
Alternative name(s):
18S rRNA (pseudouridine(1248)-N1)-methyltransferase1 Publication
18S rRNA Psi1248 methyltransferase1 Publication
Nucleolar protein EMG1 homologBy similarity
Protein C2f1 Publication
Ribosome biogenesis protein NEP11 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:EMG11 Publication
Synonyms:C2F1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 12

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:16912 EMG1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
611531 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q92979

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Bowen-Conradi syndrome (BWCNS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA combination of malformations characterized in newborns by low birth weight, microcephaly, mild joint restriction, a prominent nose, micrognathia, fifth finger clinodactyly, and 'rocker-bottom' feet. The syndrome is transmitted as an autosomal recessive trait. The prognosis is poor, with all infants dying within the first few months of life.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_06248086D → G in BWCNS; studies in fibroblasts show a dramatically reduced level of EMG1 protein in a BWCNS-affected patient compared to normal fibroblasts although patient fibroblasts do not have complete EMG1 deficiency; the mutation increases dimerization of EMG1 subunits suggesting that aggregation of EMG1 leads to reduced levels of the protein. 1 PublicationCorresponds to variant dbSNP:rs74435397EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
10436

MalaCards human disease database

More...
MalaCardsi
EMG1
MIMi211180 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000126749

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
1270 Bowen-Conradi syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142671909

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q92979

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
EMG1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
20532172

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources1 Publication
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001586062 – 244Ribosomal RNA small subunit methyltransferase NEP1Add BLAST243

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanineCombined sources1 Publication1
Modified residuei5PhosphoserineCombined sources1
Modified residuei14PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q92979

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q92979

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q92979

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q92979

PeptideAtlas

More...
PeptideAtlasi
Q92979

PRoteomics IDEntifications database

More...
PRIDEi
Q92979

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
75641

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q92979

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q92979

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q92979

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000126749 Expressed in 123 organ(s), highest expression level in leukocyte

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q92979 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q92979 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA039304
HPA039666

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer.

By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei84Interaction with substrate rRNABy similarity1
Sitei125Interaction with substrate rRNABy similarity1
Sitei128Interaction with substrate rRNABy similarity1
Sitei132Interaction with substrate rRNABy similarity1

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
Q5TZK35EBI-718638,EBI-10247271

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
115703, 47 interactors

Protein interaction database and analysis system

More...
IntActi
Q92979, 27 interactors

Molecular INTeraction database

More...
MINTi
Q92979

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000470560

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1244
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q92979

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni219 – 224S-adenosyl-L-methionine bindingBy similarity6

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000000305

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000193819

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q92979

KEGG Orthology (KO)

More...
KOi
K14568

Identification of Orthologs from Complete Genome Data

More...
OMAi
DYTEKTV

Database of Orthologous Groups

More...
OrthoDBi
1466128at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q92979

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.40.1280.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR029028 Alpha/beta_knot_MTases
IPR005304 Rbsml_bgen_MeTrfase_EMG1/NEP1
IPR029026 tRNA_m1G_MTases_N

The PANTHER Classification System

More...
PANTHERi
PTHR12636 PTHR12636, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF03587 EMG1, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF75217 SSF75217, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

Q92979-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAAPSDGFKP RERSGGEQAQ DWDALPPKRP RLGAGNKIGG RRLIVVLEGA
60 70 80 90 100
SLETVKVGKT YELLNCDKHK SILLKNGRDP GEARPDITHQ SLLMLMDSPL
110 120 130 140 150
NRAGLLQVYI HTQKNVLIEV NPQTRIPRTF DRFCGLMVQL LHKLSVRAAD
160 170 180 190 200
GPQKLLKVIK NPVSDHFPVG CMKVGTSFSI PVVSDVRELV PSSDPIVFVV
210 220 230 240
GAFAHGKVSV EYTEKMVSIS NYPLSAALTC AKLTTAFEEV WGVI
Length:244
Mass (Da):26,720
Last modified:January 23, 2007 - v4
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i922F6CF49B4EFD11
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
V9GYP5V9GYP5_HUMAN
Ribosomal RNA small subunit methylt...
EMG1
217Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WWQ2A0A087WWQ2_HUMAN
Ribosomal RNA small subunit methylt...
EMG1
223Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WVM7A0A087WVM7_HUMAN
Ribosomal RNA small subunit methylt...
EMG1
149Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAB51325 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05023734A → G. Corresponds to variant dbSNP:rs11064480EnsemblClinVar.1
Natural variantiVAR_06248086D → G in BWCNS; studies in fibroblasts show a dramatically reduced level of EMG1 protein in a BWCNS-affected patient compared to normal fibroblasts although patient fibroblasts do not have complete EMG1 deficiency; the mutation increases dimerization of EMG1 subunits suggesting that aggregation of EMG1 leads to reduced levels of the protein. 1 PublicationCorresponds to variant dbSNP:rs74435397EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
U47924 Genomic DNA Translation: AAB51325.1 Different initiation.
U72514 mRNA Translation: AAC51641.1
BC055314 mRNA Translation: AAH55314.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS73430.1

NCBI Reference Sequences

More...
RefSeqi
NP_001306978.1, NM_001320049.1
NP_006322.4, NM_006331.7

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000599672; ENSP00000470560; ENSG00000126749

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
10436

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:10436

UCSC genome browser

More...
UCSCi
uc031ysa.2 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U47924 Genomic DNA Translation: AAB51325.1 Different initiation.
U72514 mRNA Translation: AAC51641.1
BC055314 mRNA Translation: AAH55314.1
CCDSiCCDS73430.1
RefSeqiNP_001306978.1, NM_001320049.1
NP_006322.4, NM_006331.7

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5FAIX-ray1.80A14-244[»]
SMRiQ92979
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi115703, 47 interactors
IntActiQ92979, 27 interactors
MINTiQ92979
STRINGi9606.ENSP00000470560

PTM databases

iPTMnetiQ92979
PhosphoSitePlusiQ92979
SwissPalmiQ92979

Polymorphism and mutation databases

BioMutaiEMG1
DMDMi20532172

Proteomic databases

EPDiQ92979
jPOSTiQ92979
MassIVEiQ92979
MaxQBiQ92979
PeptideAtlasiQ92979
PRIDEiQ92979
ProteomicsDBi75641

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
10436

Genome annotation databases

EnsembliENST00000599672; ENSP00000470560; ENSG00000126749
GeneIDi10436
KEGGihsa:10436
UCSCiuc031ysa.2 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
10436
DisGeNETi10436

GeneCards: human genes, protein and diseases

More...
GeneCardsi
EMG1
HGNCiHGNC:16912 EMG1
HPAiHPA039304
HPA039666
MalaCardsiEMG1
MIMi211180 phenotype
611531 gene
neXtProtiNX_Q92979
OpenTargetsiENSG00000126749
Orphaneti1270 Bowen-Conradi syndrome
PharmGKBiPA142671909

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

GeneTreeiENSGT00390000000305
HOGENOMiHOG000193819
InParanoidiQ92979
KOiK14568
OMAiDYTEKTV
OrthoDBi1466128at2759
PhylomeDBiQ92979

Enzyme and pathway databases

BRENDAi2.1.1.257 2681
ReactomeiR-HSA-6790901 rRNA modification in the nucleus and cytosol
R-HSA-6791226 Major pathway of rRNA processing in the nucleolus and cytosol

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
EMG1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
EMG1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
10436
PharosiQ92979

Protein Ontology

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PROi
PR:Q92979

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000126749 Expressed in 123 organ(s), highest expression level in leukocyte
ExpressionAtlasiQ92979 baseline and differential
GenevisibleiQ92979 HS

Family and domain databases

Gene3Di3.40.1280.10, 1 hit
InterProiView protein in InterPro
IPR029028 Alpha/beta_knot_MTases
IPR005304 Rbsml_bgen_MeTrfase_EMG1/NEP1
IPR029026 tRNA_m1G_MTases_N
PANTHERiPTHR12636 PTHR12636, 1 hit
PfamiView protein in Pfam
PF03587 EMG1, 1 hit
SUPFAMiSSF75217 SSF75217, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiNEP1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q92979
Secondary accession number(s): O00675, O00726
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 10, 2002
Last sequence update: January 23, 2007
Last modified: November 13, 2019
This is version 174 of the entry and version 4 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
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