Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 147 (10 Apr 2019)
Sequence version 1 (01 Oct 2002)
Previous versions | rss
Other tutorials and videosHelp videoFeedback
Protein

eEF1A lysine and N-terminal methyltransferase

Gene

EEF1AKNMT

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

Dual methyltransferase that catalyzes methylation of elongation factor 1-alpha (EEF1A1 and EEF1A2) at two different positions, and is therefore involved in the regulation of mRNA translation (PubMed:30612740, PubMed:30143613). Via its C-terminus, methylates EEF1A1 and EEF1A2 at the N-terminal residue 'Gly-2' (PubMed:30143613). Via its N-terminus dimethylates EEF1A1 and EEF1A2 at residue 'Lys-55' (PubMed:30612740, PubMed:30143613). Has no activity towards core histones H2A, H2B, H3 and H4 (PubMed:30612740).2 Publications

<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

<p>This subsection of the ‘Function’ section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Protein N-terminal methyltransferase activity is inhibited by GTP and GDP.1 Publication

<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

<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, Multifunctional enzyme, Transferase

<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:
eEF1A lysine and N-terminal methyltransferase1 Publication
Short name:
eEF1A-KNMT1 Publication
Alternative name(s):
Methyltransferase-like protein 13
Including the following 2 domains:
eEF1A lysine methyltransferase2 Publications (EC:2.1.1.-2 Publications)
eEF1A N-terminal methyltransferase1 Publication (EC:2.1.1.-1 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:EEF1AKNMTImported
Synonyms:KIAA0859, METTL13
ORF Names:CGI-01
<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 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000010165.19

Human Gene Nomenclature Database

More...
HGNCi
HGNC:24248 EEF1AKNMT

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
617987 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8N6R0

<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

METTL13 unregulation may be involved in tumorigenesis. High METTL13 expression has been observed in pancreatic and lung cancer tissues, correlates with overexpression of dimethylated elongation factor 1-alpha and is associated with poor clinical outcome. The disease mechanism involves dysregulation of mRNA translation and enhanced protein synthesis to sustain growth of malignant cells.1 Publication

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi54V → A: Decreased eEF1A lysine methyltransferase activity. 1 Publication1
Mutagenesisi58G → R: Loss of eEF1A lysine methyltransferase activity. 1 Publication1
Mutagenesisi59N → D: Loss of eEF1A lysine methyltransferase activity. 1 Publication1
Mutagenesisi67Y → A: Loss of eEF1A lysine methyltransferase activity. 1 Publication1
Mutagenesisi71Y → A: Loss of eEF1A lysine methyltransferase activity. 1 Publication1
Mutagenesisi76N → D: Loss of eEF1A lysine methyltransferase activity. 1 Publication1
Mutagenesisi115F → A: Loss of eEF1A lysine methyltransferase activity. 1 Publication1
Mutagenesisi120 – 121DK → AA: Loss of eEF1A lysine methyltransferase activity. 1 Publication2
Mutagenesisi156Y → A: Loss of eEF1A lysine methyltransferase activity. 1 Publication1
Mutagenesisi524E → A: Loss of activity. 1 Publication1
Mutagenesisi551D → A: Decreased activity. 1 Publication1
Mutagenesisi575D → A: Loss of activity. 1 Publication1
Mutagenesisi576V → A: Decreased activity. 1 Publication1
Mutagenesisi577D → A: Decreased activity. 1 Publication1
Mutagenesisi578S → A: No effect on activity. 1 Publication1
Mutagenesisi647N → A: Decreased activity. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
51603
MIMi605429 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000010165

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA164722256

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
METTL13

Domain mapping of disease mutations (DMDM)

More...
DMDMi
67461056

<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 ‘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_00000507791 – 699eEF1A lysine and N-terminal methyltransferaseAdd BLAST699

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 residuei1N-acetylmethionineCombined sources1
Modified residuei267PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q8N6R0

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8N6R0

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q8N6R0

PeptideAtlas

More...
PeptideAtlasi
Q8N6R0

PRoteomics IDEntifications database

More...
PRIDEi
Q8N6R0

ProteomicsDB human proteome resource

More...
ProteomicsDBi
72216
72217 [Q8N6R0-1]
72218 [Q8N6R0-2]
72219 [Q8N6R0-3]
72220 [Q8N6R0-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8N6R0

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

More...
PhosphoSitePlusi
Q8N6R0

<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
ENSG00000010165 Expressed in 216 organ(s), highest expression level in testis

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8N6R0 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA044498
HPA053705

<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

Part of a tripartite complex containing GAB1, EEF1AKNMT and SPRY2. Interacts with GAB1. Interacts with SPRY2.1 Publication

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
119632, 31 interactors

Protein interaction database and analysis system

More...
IntActi
Q8N6R0, 8 interactors

Molecular INTeraction database

More...
MINTi
Q8N6R0

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000354920

<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

1699
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

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
5WCJX-ray1.70A470-699[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q8N6R0

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

More...
SMRi
Q8N6R0

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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

<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

Belongs to the methyltransferase superfamily.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2352 Eukaryota
ENOG410XNZZ LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00510000047399

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8N6R0

Identification of Orthologs from Complete Genome Data

More...
OMAi
PDMKFLQ

Database of Orthologous Groups

More...
OrthoDBi
912165at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8N6R0

TreeFam database of animal gene trees

More...
TreeFami
TF105906

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR013216 Methyltransf_11
IPR029063 SAM-dependent_MTases

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF08241 Methyltransf_11, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF53335 SSF53335, 2 hits

<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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5)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.

This entry describes 5 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q8N6R0-5) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MNLLPKSSRE FGSVDYWEKF FQQRGKKAFE WYGTYLELCG VLHKYIKPRE
60 70 80 90 100
KVLVIGCGNS ELSEQLYDVG YRDIVNIDIS EVVIKQMKEC NATRRPQMSF
110 120 130 140 150
LKMDMTQMEF PDASFQVVLD KGTLDAVLTD EEEKTLQQVD RMLAEVGRVL
160 170 180 190 200
QVGGRYLCIS LAQAHILKKA VGHFSREGWM VRVHQVANSQ DQVLEAEPQF
210 220 230 240 250
SLPVFAFIMT KFRPVPGSAL QIFELCAQEQ RKPVRLESAE RLAEAVQERQ
260 270 280 290 300
QYAWLCSQLR RKARLGSVSL DLCDGDTGEP RYTLHVVDSP TVKPSRDNHF
310 320 330 340 350
AIFIIPQGRE TEWLFGMDEG RKQLAASAGF RRLITVALHR GQQYESMDHI
360 370 380 390 400
QAELSARVME LAPAGMPTQQ QVPFLSVGGD IGVRTVQHQD CSPLSGDYVI
410 420 430 440 450
EDVQGDDKRY FRRLIFLSNR NVVQSEARLL KDVSHKAQKK RKKDRKKQRP
460 470 480 490 500
ADAEDLPAAP GQSIDKSYLC CEHHKAMIAG LALLRNPELL LEIPLALLVV
510 520 530 540 550
GLGGGSLPLF VHDHFPKSCI DAVEIDPSML EVATQWFGFS QSDRMKVHIA
560 570 580 590 600
DGLDYIASLA GGGEARPCYD VIMFDVDSKD PTLGMSCPPP AFVEQSFLQK
610 620 630 640 650
VKSILTPEGV FILNLVCRDL GLKDSVLAGL KAVFPLLYVR RIEGEVNEIL
660 670 680 690
FCQLHPEQKL ATPELLETAQ ALERTLRKPG RGWDDTYVLS DMLKTVKIV
Length:699
Mass (Da):78,768
Last modified:October 1, 2002 - v1
<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:i14F80A4570047DBB
GO
Isoform 2 (identifier: Q8N6R0-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     643-699: Missing.

Show »
Length:642
Mass (Da):72,261
Checksum:iFBE06982F6BB67ED
GO
Isoform 3 (identifier: Q8N6R0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-86: Missing.

Show »
Length:613
Mass (Da):68,689
Checksum:iC8C2BA279A1338B9
GO
Isoform 4 (identifier: Q8N6R0-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     151-306: Missing.

Show »
Length:543
Mass (Da):61,128
Checksum:i06ECF4AFB8593785
GO
Isoform 5 (identifier: Q8N6R0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-86: Missing.
     289-505: Missing.

Show »
Length:396
Mass (Da):44,563
Checksum:iEB58F63A983893C8
GO

<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 BAA74882 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAD97213 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti115F → L in BAD97213 (Ref. 6) Curated1
Sequence conflicti498L → S in BAD97213 (Ref. 6) Curated1
Sequence conflicti514H → Q in BAB55240 (PubMed:14702039).Curated1
Sequence conflicti534T → F in BAC11055 (PubMed:14702039).Curated1

<p>This subsection of the ‘Sequence’ section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement_in_disease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

Genetic variants in EEF1AKNMT define the deafness modifier locus DFNB26M [MIMi:605429]. The DFNB26M phenotype is characterized by normal hearing despite the presence of homozygosity for a causative deafness mutation in the GAB1 gene.1 Publication

Natural variant

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_06473016Y → C Found in a renal cell carcinoma sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs774565178Ensembl.1
Natural variantiVAR_034040105M → V1 PublicationCorresponds to variant dbSNP:rs2232816Ensembl.1
Natural variantiVAR_034041359M → I. Corresponds to variant dbSNP:rs2232819Ensembl.1
Natural variantiVAR_080810544R → Q Rare polymorphism; acts as suppressor of deafness and is associated with normal hearing in individuals homozygous for a deafness-associated mutation in the GAB1 gene. 1 PublicationCorresponds to variant dbSNP:rs145666727Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0139191 – 86Missing in isoform 3 and isoform 5. 1 PublicationAdd BLAST86
Alternative sequenceiVSP_013920151 – 306Missing in isoform 4. 1 PublicationAdd BLAST156
Alternative sequenceiVSP_013921289 – 505Missing in isoform 5. 1 PublicationAdd BLAST217
Alternative sequenceiVSP_013922643 – 699Missing in isoform 2. 1 PublicationAdd BLAST57

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
AL049669 mRNA Translation: CAB41243.1
AB020666 mRNA Translation: BAA74882.2 Different initiation.
AF132936 mRNA Translation: AAD27711.1
AK027621 mRNA Translation: BAB55240.1
AK074552 mRNA Translation: BAC11055.1
AK291740 mRNA Translation: BAF84429.1
AK223493 mRNA Translation: BAD97213.1 Different initiation.
AL031864 Genomic DNA No translation available.
BC006814 mRNA Translation: AAH06814.1
BC029083 mRNA Translation: AAH29083.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS1299.1 [Q8N6R0-5]
CCDS1300.1 [Q8N6R0-3]
CCDS30936.1 [Q8N6R0-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001007240.1, NM_001007239.1 [Q8N6R0-1]
NP_055770.1, NM_014955.2 [Q8N6R0-3]
NP_057019.3, NM_015935.4 [Q8N6R0-5]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.494705

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000361735; ENSP00000354920; ENSG00000010165 [Q8N6R0-5]
ENST00000362019; ENSP00000355393; ENSG00000010165 [Q8N6R0-3]
ENST00000367737; ENSP00000356711; ENSG00000010165 [Q8N6R0-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
51603

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:51603

UCSC genome browser

More...
UCSCi
uc001ghz.4 human [Q8N6R0-5]

Keywords - Coding sequence diversityi

Alternative splicing, 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
AL049669 mRNA Translation: CAB41243.1
AB020666 mRNA Translation: BAA74882.2 Different initiation.
AF132936 mRNA Translation: AAD27711.1
AK027621 mRNA Translation: BAB55240.1
AK074552 mRNA Translation: BAC11055.1
AK291740 mRNA Translation: BAF84429.1
AK223493 mRNA Translation: BAD97213.1 Different initiation.
AL031864 Genomic DNA No translation available.
BC006814 mRNA Translation: AAH06814.1
BC029083 mRNA Translation: AAH29083.1
CCDSiCCDS1299.1 [Q8N6R0-5]
CCDS1300.1 [Q8N6R0-3]
CCDS30936.1 [Q8N6R0-1]
RefSeqiNP_001007240.1, NM_001007239.1 [Q8N6R0-1]
NP_055770.1, NM_014955.2 [Q8N6R0-3]
NP_057019.3, NM_015935.4 [Q8N6R0-5]
UniGeneiHs.494705

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5WCJX-ray1.70A470-699[»]
ProteinModelPortaliQ8N6R0
SMRiQ8N6R0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119632, 31 interactors
IntActiQ8N6R0, 8 interactors
MINTiQ8N6R0
STRINGi9606.ENSP00000354920

PTM databases

iPTMnetiQ8N6R0
PhosphoSitePlusiQ8N6R0

Polymorphism and mutation databases

BioMutaiMETTL13
DMDMi67461056

Proteomic databases

EPDiQ8N6R0
jPOSTiQ8N6R0
PaxDbiQ8N6R0
PeptideAtlasiQ8N6R0
PRIDEiQ8N6R0
ProteomicsDBi72216
72217 [Q8N6R0-1]
72218 [Q8N6R0-2]
72219 [Q8N6R0-3]
72220 [Q8N6R0-4]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000361735; ENSP00000354920; ENSG00000010165 [Q8N6R0-5]
ENST00000362019; ENSP00000355393; ENSG00000010165 [Q8N6R0-3]
ENST00000367737; ENSP00000356711; ENSG00000010165 [Q8N6R0-1]
GeneIDi51603
KEGGihsa:51603
UCSCiuc001ghz.4 human [Q8N6R0-5]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
51603
DisGeNETi51603
EuPathDBiHostDB:ENSG00000010165.19

GeneCards: human genes, protein and diseases

More...
GeneCardsi
METTL13
HGNCiHGNC:24248 EEF1AKNMT
HPAiHPA044498
HPA053705
MIMi605429 phenotype
617987 gene
neXtProtiNX_Q8N6R0
OpenTargetsiENSG00000010165
PharmGKBiPA164722256

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2352 Eukaryota
ENOG410XNZZ LUCA
GeneTreeiENSGT00510000047399
InParanoidiQ8N6R0
OMAiPDMKFLQ
OrthoDBi912165at2759
PhylomeDBiQ8N6R0
TreeFamiTF105906

Miscellaneous databases

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

More...
ChiTaRSi
METTL13 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
KIAA0859

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

More...
GenomeRNAii
51603

Protein Ontology

More...
PROi
PR:Q8N6R0

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000010165 Expressed in 216 organ(s), highest expression level in testis
GenevisibleiQ8N6R0 HS

Family and domain databases

InterProiView protein in InterPro
IPR013216 Methyltransf_11
IPR029063 SAM-dependent_MTases
PfamiView protein in Pfam
PF08241 Methyltransf_11, 1 hit
SUPFAMiSSF53335 SSF53335, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<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 nameiEFNMT_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: Q8N6R0
Secondary accession number(s): A6NFK0
, A8K6S5, O94940, Q53EZ6, Q5TGP9, Q5TGQ0, Q8N2P8, Q96J11, Q96SQ0, Q9Y2Z1, Q9Y3M6
<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: June 7, 2005
Last sequence update: October 1, 2002
Last modified: April 10, 2019
This is version 147 of the entry and version 1 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, Reference proteome

Documents

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

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again