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Protein

Lethal(3)malignant brain tumor-like protein 1

Gene

L3MBTL1

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

Polycomb group (PcG) protein that specifically recognizes and binds mono- and dimethyllysine residues on target proteins, therey acting as a 'reader' of a network of post-translational modifications. PcG proteins maintain the transcriptionally repressive state of genes: acts as a chromatin compaction factor by recognizing and binding mono- and dimethylated histone H1b/HIST1H1E at 'Lys-26' (H1bK26me1 and H1bK26me2) and histone H4 at 'Lys-20' (H4K20me1 and H4K20me2), leading to condense chromatin and repress transcription. Recognizes and binds p53/TP53 monomethylated at 'Lys-382', leading to repress p53/TP53-target genes. Also recognizes and binds RB1/RB monomethylated at 'Lys-860'. Participates in the ETV6-mediated repression. Probably plays a role in cell proliferation. Overexpression induces multinucleated cells, suggesting that it is required to accomplish normal mitosis.4 Publications

Miscellaneous

The L3MBTL1 locus is imprinted. Paternal inherited gene is expressed, while the maternal inherited gene is silenced.

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>Sitei423Mediates recognition of monomethylated and dimethylated peptides1
Sitei426Positioned at the entrance of MBT 2 and is required for recognition of monomethylated and dimethylated peptides1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri613 – 656CCHHC-typePROSITE-ProRule annotationAdd BLAST44

<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

  • chromatin organization Source: UniProtKB
  • hemopoiesis Source: UniProtKB
  • negative regulation of transcription, DNA-templated Source: UniProtKB
  • regulation of cell cycle Source: UniProtKB
  • regulation of megakaryocyte differentiation Source: UniProtKB
  • regulation of mitotic nuclear division Source: UniProtKB
  • regulation of signal transduction by p53 class mediator Source: Reactome

<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 functionChromatin regulator, Repressor
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-6804760 Regulation of TP53 Activity through Methylation

<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:
Lethal(3)malignant brain tumor-like protein 1
Short name:
H-l(3)mbt
Short name:
H-l(3)mbt protein
Short name:
L(3)mbt-like
Alternative name(s):
L(3)mbt protein homolog
L3MBTL1
<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:L3MBTL1
Synonyms:KIAA0681, L3MBT, L3MBTL
<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 20

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000185513.14

Human Gene Nomenclature Database

More...
HGNCi
HGNC:15905 L3MBTL1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
608802 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9Y468

<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; 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

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>Mutagenesisi316D → N: Does not affect binding to monomethylated and dimethylated peptides. 1 Publication1
Mutagenesisi340F → A: Does not affect binding to monomethylated and dimethylated peptides. 1 Publication1
Mutagenesisi423D → A: Abolishes binding to monomethylated and dimethylated peptides. 4 Publications1
Mutagenesisi423D → N: Strongly impairs binding to monomethylated and dimethylated peptides. Abolishes binding to p53/TP53 monomethylated at 'Lys-382'. 4 Publications1
Mutagenesisi426N → A: Abolishes binding to monomethylated and dimethylated peptides. 2 Publications1
Mutagenesisi426N → Q: Strongly impairs binding to monomethylated and dimethylated peptides. Abolishes binding to p53/TP53 monomethylated at 'Lys-382'. 2 Publications1
Mutagenesisi431C → F or R: Strongly impairs binding to monomethylated and dimethylated peptides. 1 Publication1
Mutagenesisi447F → A: Abolishes binding to monomethylated and dimethylated peptides. Abolishes binding to p53/TP53 monomethylated at 'Lys-382'. 2 Publications1
Mutagenesisi450W → L: Abolishes binding to p53/TP53 monomethylated at 'Lys-382'. 1 Publication1
Mutagenesisi454Y → L: Abolishes binding to p53/TP53 monomethylated at 'Lys-382'. 1 Publication1
Mutagenesisi527D → N: Does not affect binding to monomethylated and dimethylated peptides. 1 Publication1
Mutagenesisi551F → A: Does not affect binding to monomethylated and dimethylated peptides. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
26013

Open Targets

More...
OpenTargetsi
ENSG00000185513

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA30260

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL1287622

Drug and drug target database

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DrugBanki
DB03814 2-(N-Morpholino)-Ethanesulfonic Acid

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
L3MBTL1

Domain mapping of disease mutations (DMDM)

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DMDMi
325511398

<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_00000844521 – 840Lethal(3)malignant brain tumor-like protein 1Add BLAST840

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 residuei117PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Ubiquitinated in a VCP/p97-dependent way following DNA damage, leading to its removal from DNA damage sites, promoting accessibility of H4K20me2 mark for DNA repair protein TP53BP1, which is then recruited to DNA damage sites.1 Publication

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9Y468

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9Y468

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

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PaxDbi
Q9Y468

PeptideAtlas

More...
PeptideAtlasi
Q9Y468

PRoteomics IDEntifications database

More...
PRIDEi
Q9Y468

ProteomicsDB human proteome resource

More...
ProteomicsDBi
86115
86116 [Q9Y468-1]
86117 [Q9Y468-2]
86118 [Q9Y468-3]
86119 [Q9Y468-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9Y468

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

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PhosphoSitePlusi
Q9Y468

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed. Expression is reduced in colorectal cancer cell line SW480 and promyelocytic leukemia cell line HL-60.1 Publication

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

In interphase cells, it is scattered throughout the nucleoplasm. In mitotic cells, it strongly associates with condensed chromosomes from the prophase to telophase.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000185513 Expressed in 202 organ(s), highest expression level in right hemisphere of cerebellum

CleanEx database of gene expression profiles

More...
CleanExi
HS_L3MBTL

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9Y468 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9Y468 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA068051

<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. Interacts with RB1/RB (when monomethylated at 'Lys-860'). Interacts with p53/TP53 (when monomethylated at 'Lys-382'). Interacts with CBX3, ETV6, KMT5A and VCP/p97.8 Publications

<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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
117486, 93 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...
ComplexPortali
CPX-469 L3MBTL1 complex

Database of interacting proteins

More...
DIPi
DIP-29628N

Protein interaction database and analysis system

More...
IntActi
Q9Y468, 64 interactors

Molecular INTeraction database

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MINTi
Q9Y468

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000398516

<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

1840
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1OYXX-ray1.85A/B/C265-595[»]
1OZ2X-ray1.55A265-595[»]
1OZ3X-ray1.85A/B/C265-595[»]
2PQWX-ray2.00A268-590[»]
2RHIX-ray1.66A265-594[»]
2RHUX-ray1.90A274-587[»]
2RHXX-ray2.10A265-594[»]
2RHYX-ray1.90A274-587[»]
2RHZX-ray2.20A274-587[»]
2RI2X-ray2.20A274-587[»]
2RI3X-ray2.00A274-587[»]
2RI5X-ray2.00A274-587[»]
2RJCX-ray2.00A/B/C268-598[»]
2RJDX-ray1.65A268-598[»]
2RJEX-ray1.86A/B/C268-598[»]
2RJFX-ray2.05A/C/E268-598[»]
3OQ5X-ray2.50A/B/C259-598[»]
3P8HX-ray2.55A/B/C268-590[»]
3UWNX-ray2.15A268-598[»]
6BYBX-ray1.74A200-522[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q9Y468

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

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SMRi
Q9Y468

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q9Y468

<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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati274 – 374MBT 1Add BLAST101
Repeati382 – 481MBT 2Add BLAST100
Repeati490 – 585MBT 3Add BLAST96
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini751 – 824SAMPROSITE-ProRule annotationAdd BLAST74

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>Regioni447 – 454Interaction with monomethylated and dimethylated peptides8

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The MBT repeat 2 specifically recognizes and binds monomethylated and dimethylated proteins. In contrast, it does not bind trimethylated proteins. The MBT repeat 1 does not bind methylated peptides but inserts a proline ring in a Pro-Ser-Ser/Thr sequence context.1 Publication

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri613 – 656CCHHC-typePROSITE-ProRule annotationAdd BLAST44

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3766 Eukaryota
ENOG410Y4AQ LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000159708

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG071375

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9Y468

Identification of Orthologs from Complete Genome Data

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OMAi
HREYQSP

Database of Orthologous Groups

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OrthoDBi
63195at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9Y468

TreeFam database of animal gene trees

More...
TreeFami
TF316498

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR004092 Mbt
IPR002515 Znf_C2HC
IPR036060 Znf_C2HC_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02820 MBT, 3 hits
PF01530 zf-C2HC, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00561 MBT, 3 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF103637 SSF103637, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51079 MBT, 3 hits
PS50105 SAM_DOMAIN, 1 hit
PS51802 ZF_CCHHC, 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>.<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

This entry has 5 described isoforms and 16 potential isoforms that are computationally mapped.Show allAlign All

Isoform 5 (identifier: Q9Y468-5) [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
MHLVAGDSPG SGPHLPATAF IIPASSATLG LPSSALDVSC FPREPIHVGA
60 70 80 90 100
PEQVAGCEPV SATVLPQLSA GPASSSTSTV RLLEWTEAAA PPPGGGLRFR
110 120 130 140 150
ISEYKPLNMA GVEQPPSPEL RQEGVTEYED GGAPAGDGEA GPQQAEDHPQ
160 170 180 190 200
NPPEDPNQDP PEDDSTCQCQ ACGPHQAAGP DLGSSNDGCP QLFQERSVIV
210 220 230 240 250
ENSSGSTSAS ELLKPMKKRK RREYQSPSEE ESEPEAMEKQ EEGKDPEGQP
260 270 280 290 300
TASTPESEEW SSSQPATGEK KECWSWESYL EEQKAITAPV SLFQDSQAVT
310 320 330 340 350
HNKNGFKLGM KLEGIDPQHP SMYFILTVAE VCGYRLRLHF DGYSECHDFW
360 370 380 390 400
VNANSPDIHP AGWFEKTGHK LQPPKGYKEE EFSWSQYLRS TRAQAAPKHL
410 420 430 440 450
FVSQSHSPPP LGFQVGMKLE AVDRMNPSLV CVASVTDVVD SRFLVHFDNW
460 470 480 490 500
DDTYDYWCDP SSPYIHPVGW CQKQGKPLTP PQDYPDPDNF CWEKYLEETG
510 520 530 540 550
ASAVPTWAFK VRPPHSFLVN MKLEAVDRRN PALIRVASVE DVEDHRIKIH
560 570 580 590 600
FDGWSHGYDF WIDADHPDIH PAGWCSKTGH PLQPPLGPRE PSSASPGGCP
610 620 630 640 650
PLSYRSLPHT RTSKYSFHHR KCPTPGCDGS GHVTGKFTAH HCLSGCPLAE
660 670 680 690 700
RNQSRLKAEL SDSEASARKK NLSGFSPRKK PRHHGRIGRP PKYRKIPQED
710 720 730 740 750
FQTLTPDVVH QSLFMSALSA HPDRSLSVCW EQHCKLLPGV AGISASTVAK
760 770 780 790 800
WTIDEVFGFV QTLTGCEDQA RLFKDEARIV RVTHVSGKTL VWTVAQLGDL
810 820 830 840
VCSDHLQEGK GILETGVHSL LCSLPTHLLA KLSFASDSQY
Length:840
Mass (Da):92,297
Last modified:March 28, 2018 - 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:i70004D458897CB24
GO
Isoform 1 (identifier: Q9Y468-1) [UniParc]FASTAAdd to basket
Also known as: mbt-I

The sequence of this isoform differs from the canonical sequence as follows:
     1-98: MHLVAGDSPG...AAPPPGGGLR → MRRREGHGTDSEMGQGPVRESQSSDPPALQ

Show »
Length:772
Mass (Da):85,917
Checksum:i117B03A628826B29
GO
Isoform 2 (identifier: Q9Y468-2) [UniParc]FASTAAdd to basket
Also known as: mbt-II

The sequence of this isoform differs from the canonical sequence as follows:
     1-98: MHLVAGDSPG...AAPPPGGGLR → MRRREGHGTDSEMGQGPVRESQSSDPPALQ
     777-840: ARIVRVTHVS...KLSFASDSQY → VRCKCRVGDRAGVTVLKTAGSRCPPQRHFC

Show »
Length:738
Mass (Da):82,318
Checksum:i091F0E829CE6665D
GO
Isoform 3 (identifier: Q9Y468-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-416: Missing.
     777-840: ARIVRVTHVS...KLSFASDSQY → VRCKCRVGDRAGVTVLKTAGSRCPPQRHFC

Show »
Length:390
Mass (Da):43,766
Checksum:i8C720B89B9DD6388
GO
Isoform 4 (identifier: Q9Y468-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-98: MHLVAGDSPG...AAPPPGGGLR → MRRREGHGTDSEMGQGPVRESQSSDPPALQ
     777-840: ARIVRVTHVS...KLSFASDSQY → MIDGEAFLLL...MFKNADDTLK

Note: No experimental confirmation available.
Show »
Length:752
Mass (Da):83,884
Checksum:i6B92FF852FF98CB4
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 16 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0A0MRR4A0A0A0MRR4_HUMAN
Lethal(3)malignant brain tumor-like...
L3MBTL1
743Annotation 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>
A0A0C4DG70A0A0C4DG70_HUMAN
Lethal(3)malignant brain tumor-like...
L3MBTL1
538Annotation 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>
A0A2U3TZN8A0A2U3TZN8_HUMAN
Lethal(3)malignant brain tumor-like...
L3MBTL1
868Annotation 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>
H0Y7I2H0Y7I2_HUMAN
Lethal(3)malignant brain tumor-like...
L3MBTL1
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>
A0A3B3IS65A0A3B3IS65_HUMAN
Lethal(3)malignant brain tumor-like...
L3MBTL1
497Annotation 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>
A0A3B3ISS0A0A3B3ISS0_HUMAN
Lethal(3)malignant brain tumor-like...
L3MBTL1
821Annotation 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>
A0A3B3ISV7A0A3B3ISV7_HUMAN
Lethal(3)malignant brain tumor-like...
L3MBTL1
323Annotation 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>
A0A3B3ISP5A0A3B3ISP5_HUMAN
Lethal(3)malignant brain tumor-like...
L3MBTL1
494Annotation 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>
B0QYN4B0QYN4_HUMAN
Lethal(3)malignant brain tumor-like...
L3MBTL1
318Annotation 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>
B0QYN5B0QYN5_HUMAN
Lethal(3)malignant brain tumor-like...
L3MBTL1
84Annotation 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>
There are more potential isoformsShow all

<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 EAW75958 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence EAW75961 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence EAW75962 differs from that shown. Reason: Erroneous gene model prediction.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 conflicti254T → A in BAG61241 (PubMed:14702039).Curated1
Sequence conflicti373P → L in AAC69438 (PubMed:10445843).Curated1
Sequence conflicti388 – 389LR → MC in AAC69438 (PubMed:10445843).Curated2
Sequence conflicti400L → M in AAC69438 (PubMed:10445843).Curated1
Sequence conflicti561W → R in BAG61241 (PubMed:14702039).Curated1
Sequence conflicti663S → P in AAC69438 (PubMed:10445843).Curated1

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_051097117S → T1 PublicationCorresponds to variant dbSNP:rs17857202Ensembl.1
Natural variantiVAR_051098547I → M. Corresponds to variant dbSNP:rs6017104Ensembl.1
Isoform 1 (identifier: Q9Y468-1)
Natural varianti759H → R DbSNP:rs6030948. 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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0039011 – 416Missing in isoform 3. 1 PublicationAdd BLAST416
Alternative sequenceiVSP_0594581 – 98MHLVA…GGGLR → MRRREGHGTDSEMGQGPVRE SQSSDPPALQ in isoform 1, isoform 2 and isoform 4. 3 PublicationsAdd BLAST98
Alternative sequenceiVSP_059459777 – 840ARIVR…SDSQY → VRCKCRVGDRAGVTVLKTAG SRCPPQRHFC in isoform 2 and isoform 3. 2 PublicationsAdd BLAST64
Alternative sequenceiVSP_059460777 – 840ARIVR…SDSQY → MIDGEAFLLLTQADIVKIMS VKLGPALKIYNAILMFKNAD DTLK in isoform 4. 1 PublicationAdd BLAST64

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
U89358 mRNA Translation: AAC69438.1
AK299199 mRNA Translation: BAG61241.1
AL110279 mRNA Translation: CAB53714.1
AL031681 Genomic DNA No translation available.
Z98752 Genomic DNA No translation available.
CH471077 Genomic DNA Translation: EAW75958.1 Sequence problems.
CH471077 Genomic DNA Translation: EAW75961.1 Sequence problems.
CH471077 Genomic DNA Translation: EAW75962.1 Sequence problems.
BC039820 mRNA Translation: AAH39820.1
AB014581 mRNA Translation: BAA31656.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS13319.1 [Q9Y468-1]
CCDS46602.2 [Q9Y468-5]

Protein sequence database of the Protein Information Resource

More...
PIRi
T14794

NCBI Reference Sequences

More...
RefSeqi
NP_056293.4, NM_015478.6 [Q9Y468-1]
NP_115479.4, NM_032107.4 [Q9Y468-5]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.709356
Hs.736988

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000373135; ENSP00000362227; ENSG00000185513 [Q9Y468-1]
ENST00000422861; ENSP00000410139; ENSG00000185513 [Q9Y468-4]
ENST00000427442; ENSP00000402107; ENSG00000185513 [Q9Y468-5]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
26013

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:26013

UCSC genome browser

More...
UCSCi
uc002xkl.4 human [Q9Y468-5]

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
U89358 mRNA Translation: AAC69438.1
AK299199 mRNA Translation: BAG61241.1
AL110279 mRNA Translation: CAB53714.1
AL031681 Genomic DNA No translation available.
Z98752 Genomic DNA No translation available.
CH471077 Genomic DNA Translation: EAW75958.1 Sequence problems.
CH471077 Genomic DNA Translation: EAW75961.1 Sequence problems.
CH471077 Genomic DNA Translation: EAW75962.1 Sequence problems.
BC039820 mRNA Translation: AAH39820.1
AB014581 mRNA Translation: BAA31656.1
CCDSiCCDS13319.1 [Q9Y468-1]
CCDS46602.2 [Q9Y468-5]
PIRiT14794
RefSeqiNP_056293.4, NM_015478.6 [Q9Y468-1]
NP_115479.4, NM_032107.4 [Q9Y468-5]
UniGeneiHs.709356
Hs.736988

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1OYXX-ray1.85A/B/C265-595[»]
1OZ2X-ray1.55A265-595[»]
1OZ3X-ray1.85A/B/C265-595[»]
2PQWX-ray2.00A268-590[»]
2RHIX-ray1.66A265-594[»]
2RHUX-ray1.90A274-587[»]
2RHXX-ray2.10A265-594[»]
2RHYX-ray1.90A274-587[»]
2RHZX-ray2.20A274-587[»]
2RI2X-ray2.20A274-587[»]
2RI3X-ray2.00A274-587[»]
2RI5X-ray2.00A274-587[»]
2RJCX-ray2.00A/B/C268-598[»]
2RJDX-ray1.65A268-598[»]
2RJEX-ray1.86A/B/C268-598[»]
2RJFX-ray2.05A/C/E268-598[»]
3OQ5X-ray2.50A/B/C259-598[»]
3P8HX-ray2.55A/B/C268-590[»]
3UWNX-ray2.15A268-598[»]
6BYBX-ray1.74A200-522[»]
ProteinModelPortaliQ9Y468
SMRiQ9Y468
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117486, 93 interactors
ComplexPortaliCPX-469 L3MBTL1 complex
DIPiDIP-29628N
IntActiQ9Y468, 64 interactors
MINTiQ9Y468
STRINGi9606.ENSP00000398516

Chemistry databases

ChEMBLiCHEMBL1287622
DrugBankiDB03814 2-(N-Morpholino)-Ethanesulfonic Acid

PTM databases

iPTMnetiQ9Y468
PhosphoSitePlusiQ9Y468

Polymorphism and mutation databases

BioMutaiL3MBTL1
DMDMi325511398

Proteomic databases

EPDiQ9Y468
jPOSTiQ9Y468
PaxDbiQ9Y468
PeptideAtlasiQ9Y468
PRIDEiQ9Y468
ProteomicsDBi86115
86116 [Q9Y468-1]
86117 [Q9Y468-2]
86118 [Q9Y468-3]
86119 [Q9Y468-5]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
26013
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000373135; ENSP00000362227; ENSG00000185513 [Q9Y468-1]
ENST00000422861; ENSP00000410139; ENSG00000185513 [Q9Y468-4]
ENST00000427442; ENSP00000402107; ENSG00000185513 [Q9Y468-5]
GeneIDi26013
KEGGihsa:26013
UCSCiuc002xkl.4 human [Q9Y468-5]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
26013
DisGeNETi26013
EuPathDBiHostDB:ENSG00000185513.14

GeneCards: human genes, protein and diseases

More...
GeneCardsi
L3MBTL1

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0015827
HGNCiHGNC:15905 L3MBTL1
HPAiHPA068051
MIMi608802 gene
neXtProtiNX_Q9Y468
OpenTargetsiENSG00000185513
PharmGKBiPA30260

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3766 Eukaryota
ENOG410Y4AQ LUCA
GeneTreeiENSGT00940000159708
HOVERGENiHBG071375
InParanoidiQ9Y468
OMAiHREYQSP
OrthoDBi63195at2759
PhylomeDBiQ9Y468
TreeFamiTF316498

Enzyme and pathway databases

ReactomeiR-HSA-6804760 Regulation of TP53 Activity through Methylation

Miscellaneous databases

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

More...
ChiTaRSi
L3MBTL1 human
EvolutionaryTraceiQ9Y468

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
L3MBTL

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

More...
GenomeRNAii
26013

Protein Ontology

More...
PROi
PR:Q9Y468

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000185513 Expressed in 202 organ(s), highest expression level in right hemisphere of cerebellum
CleanExiHS_L3MBTL
ExpressionAtlasiQ9Y468 baseline and differential
GenevisibleiQ9Y468 HS

Family and domain databases

InterProiView protein in InterPro
IPR004092 Mbt
IPR002515 Znf_C2HC
IPR036060 Znf_C2HC_sf
PfamiView protein in Pfam
PF02820 MBT, 3 hits
PF01530 zf-C2HC, 1 hit
SMARTiView protein in SMART
SM00561 MBT, 3 hits
SUPFAMiSSF103637 SSF103637, 1 hit
PROSITEiView protein in PROSITE
PS51079 MBT, 3 hits
PS50105 SAM_DOMAIN, 1 hit
PS51802 ZF_CCHHC, 1 hit

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 nameiLMBL1_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: Q9Y468
Secondary accession number(s): B4DRC9
, E1P5W7, Q5H8Y8, Q5H8Y9, Q8IUV7, Q9H1E6, Q9H1G5, Q9UG06, Q9UJB9, Q9Y4C9
<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: September 19, 2002
Last sequence update: March 28, 2018
Last modified: January 16, 2019
This is version 192 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, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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 20
    Human chromosome 20: entries, gene names and cross-references to MIM
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