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Protein

Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific

Gene

NSD1

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

Histone methyltransferase. Preferentially methylates 'Lys-36' of histone H3 and 'Lys-20' of histone H4 (in vitro). Transcriptional intermediary factor capable of both negatively or positively influencing transcription, depending on the cellular context.1 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 of the ‘Function’ 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 sitei2065S-adenosyl-L-methioninePROSITE-ProRule annotation1 Publication1
Binding sitei2071S-adenosyl-L-methioninePROSITE-ProRule annotation1 Publication1

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 fingeri1543 – 1589PHD-type 1PROSITE-ProRule annotationAdd BLAST47
Zinc fingeri1590 – 1646PHD-type 2PROSITE-ProRule annotationAdd BLAST57
Zinc fingeri1707 – 1751PHD-type 3PROSITE-ProRule annotationAdd BLAST45
Zinc fingeri2118 – 2165PHD-type 4; atypicalPROSITE-ProRule annotationAdd BLAST48

<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 functionActivator, Chromatin regulator, Methyltransferase, Repressor, Transferase
Biological processTranscription, Transcription regulation
LigandMetal-binding, S-adenosyl-L-methionine, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-3214841 PKMTs methylate histone lysines

SIGNOR Signaling Network Open Resource

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SIGNORi
Q96L73

Protein family/group databases

MoonDB Database of extreme multifunctional and moonlighting proteins

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MoonDBi
Q96L73 Predicted

<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:
Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific (EC:2.1.1.43)
Alternative name(s):
Androgen receptor coactivator 267 kDa protein
Androgen receptor-associated protein of 267 kDa
H3-K36-HMTase
H4-K20-HMTase
Lysine N-methyltransferase 3B
Nuclear receptor-binding SET domain-containing protein 1
Short name:
NR-binding SET domain-containing protein
<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:NSD1
Synonyms:ARA267, KMT3B
<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 5

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000165671.18

Human Gene Nomenclature Database

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HGNCi
HGNC:14234 NSD1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
606681 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q96L73

<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

Chromosome, 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

Sotos syndrome 1 (SOTOS1)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA childhood overgrowth syndrome characterized by pre- and postnatal overgrowth, developmental delay, mental retardation, advanced bone age, and abnormal craniofacial morphology including macrodolichocephaly with frontal bossing, frontoparietal sparseness of hair, apparent hypertelorism, downslanting palpebral fissures, and facial flushing. Common oral findings include: premature eruption of teeth; high, arched palate; pointed chin and, more rarely, prognathism.
See also OMIM:117550
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_0157801616H → L in SOTOS1. 1 Publication1
Natural variantiVAR_0157811637L → P in SOTOS1. 1 Publication1
Natural variantiVAR_0157821674C → W in SOTOS1. 1 Publication1
Natural variantiVAR_0157831687I → N in SOTOS1. 1 Publication1
Natural variantiVAR_0157841792G → V in SOTOS1. 1 Publication1
Natural variantiVAR_0157851925C → R in SOTOS1. 1 Publication1
Natural variantiVAR_0157861955G → D in SOTOS1. 1 Publication1
Natural variantiVAR_0157871984R → Q in SOTOS1; loss of enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs587784169EnsemblClinVar.1
Natural variantiVAR_0157881997Y → C in SOTOS1. 1 PublicationCorresponds to variant dbSNP:rs797045825EnsemblClinVar.1
Natural variantiVAR_0157892005R → Q in SOTOS1; strongly reduced enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs587784174EnsemblClinVar.1
Natural variantiVAR_0157902017R → Q in SOTOS1; loss of enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs587784177EnsemblClinVar.1
Natural variantiVAR_0157912017R → W in SOTOS1. 1 PublicationCorresponds to variant dbSNP:rs587784176EnsemblClinVar.1
Natural variantiVAR_0157922143H → Q in SOTOS1. 1 PublicationCorresponds to variant dbSNP:rs121908068EnsemblClinVar.1
Natural variantiVAR_0157932183C → S in SOTOS1. 1 PublicationCorresponds to variant dbSNP:rs121908069EnsemblClinVar.1
Beckwith-Wiedemann syndrome (BWS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by anterior abdominal wall defects including exomphalos (omphalocele), pre- and postnatal overgrowth, and macroglossia. Additional less frequent complications include specific developmental defects and a predisposition to embryonal tumors.
See also OMIM:130650
A chromosomal aberration involving NSD1 is found in childhood acute myeloid leukemia. Translocation t(5;11)(q35;p15.5) with NUP98.
A chromosomal aberration involving NSD1 is found in an adult form of myelodysplastic syndrome (MDS). Insertion of NUP98 into NSD1 generates a NUP98-NSD1 fusion product.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>Mutagenesisi1914R → C: Reduced enzyme activity. 1 Publication1
Mutagenesisi1952R → W: Nearly abolished enzyme activity. 1 Publication1

Keywords - Diseasei

Disease mutation, Proto-oncogene

Organism-specific databases

DisGeNET

More...
DisGeNETi
64324

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
NSD1

MalaCards human disease database

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MalaCardsi
NSD1
MIMi117550 phenotype
130650 phenotype

Open Targets

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OpenTargetsi
ENSG00000165671

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

More...
Orphaneti
228415 5q35 microduplication syndrome
238613 Beckwith-Wiedemann syndrome due to NSD1 mutation
1627 Deletion 5q35
821 Sotos syndrome
3447 Weaver syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA31790

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL3588738

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
NSD1

Domain mapping of disease mutations (DMDM)

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DMDMi
32469769

<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_00001860701 – 2696Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specificAdd BLAST2696

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 residuei117PhosphoserineBy similarity1
Modified residuei483PhosphoserineCombined sources1
Modified residuei486PhosphoserineCombined sources1
Modified residuei766PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki906Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki1339Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei1510PhosphoserineBy similarity1
Modified residuei2369PhosphoserineCombined sources1
Modified residuei2462PhosphothreonineCombined sources1
Modified residuei2471PhosphoserineCombined sources1
Cross-linki2616Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q96L73

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q96L73

MaxQB - The MaxQuant DataBase

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MaxQBi
Q96L73

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

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PaxDbi
Q96L73

PeptideAtlas

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PeptideAtlasi
Q96L73

PRoteomics IDEntifications database

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PRIDEi
Q96L73

ProteomicsDB human proteome resource

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ProteomicsDBi
77153
77154 [Q96L73-2]
77155 [Q96L73-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q96L73

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

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PhosphoSitePlusi
Q96L73

<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

Expressed in the fetal/adult brain, kidney, skeletal muscle, spleen, and the thymus, and faintly in the lung.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000165671 Expressed in 193 organ(s), highest expression level in corpus callosum

CleanEx database of gene expression profiles

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CleanExi
HS_NSD1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q96L73 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q96L73 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA048431
HPA070333
HPA073705

<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

Interacts with the ligand-binding domains of RARA and THRA in the absence of ligand; in the presence of ligand the interaction is severely disrupted but some binding still occurs. Interacts with the ligand-binding domains of RXRA and ESRRA only in the presence of ligand. Interacts with ZNF496 (By similarity). Interacts with AR DNA- and ligand-binding domains.By similarity2 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

WithEntry#Exp.IntActNotes
RELAQ042062EBI-2862434,EBI-73886

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
122135, 42 interactors

Database of interacting proteins

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DIPi
DIP-58517N

Protein interaction database and analysis system

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IntActi
Q96L73, 11 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000395929

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
Q96L73

<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

12696
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
3OOIX-ray1.75A1852-2082[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q96L73

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

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SMRi
Q96L73

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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>Domaini323 – 388PWWP 1PROSITE-ProRule annotationAdd BLAST66
Domaini1756 – 1818PWWP 2PROSITE-ProRule annotationAdd BLAST63
Domaini1890 – 1940AWSPROSITE-ProRule annotationAdd BLAST51
Domaini1942 – 2059SETPROSITE-ProRule annotationAdd BLAST118
Domaini2066 – 2082Post-SETPROSITE-ProRule annotationAdd BLAST17

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>Regioni1952 – 1954S-adenosyl-L-methionine binding3
Regioni1994 – 1997S-adenosyl-L-methionine binding4
Regioni2020 – 2021S-adenosyl-L-methionine binding2
Regioni2060 – 2066Inhibits enzyme activity in the absence of bound histone7

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi2207 – 2421Pro-richAdd BLAST215

<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 class V-like SAM-binding methyltransferase superfamily.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri1543 – 1589PHD-type 1PROSITE-ProRule annotationAdd BLAST47
Zinc fingeri1590 – 1646PHD-type 2PROSITE-ProRule annotationAdd BLAST57
Zinc fingeri1707 – 1751PHD-type 3PROSITE-ProRule annotationAdd BLAST45
Zinc fingeri2118 – 2165PHD-type 4; atypicalPROSITE-ProRule annotationAdd BLAST48

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1081 Eukaryota
COG2940 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000155027

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000113857

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG007518

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q96L73

KEGG Orthology (KO)

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KOi
K15588

Identification of Orthologs from Complete Genome Data

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OMAi
KKGHMQF

Database of Orthologous Groups

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OrthoDBi
775337at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q96L73

TreeFam database of animal gene trees

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TreeFami
TF329088

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.30.40.10, 4 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR006560 AWS_dom
IPR003616 Post-SET_dom
IPR000313 PWWP_dom
IPR001214 SET_dom
IPR019786 Zinc_finger_PHD-type_CS
IPR011011 Znf_FYVE_PHD
IPR001965 Znf_PHD
IPR019787 Znf_PHD-finger
IPR013083 Znf_RING/FYVE/PHD

Pfam protein domain database

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Pfami
View protein in Pfam
PF00855 PWWP, 2 hits
PF00856 SET, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00570 AWS, 1 hit
SM00249 PHD, 5 hits
SM00508 PostSET, 1 hit
SM00293 PWWP, 2 hits
SM00317 SET, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF57903 SSF57903, 3 hits

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS51215 AWS, 1 hit
PS50868 POST_SET, 1 hit
PS50812 PWWP, 2 hits
PS50280 SET, 1 hit
PS01359 ZF_PHD_1, 2 hits
PS50016 ZF_PHD_2, 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 (3+)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 3 <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 3 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96L73-1) [UniParc]FASTAAdd to basket
Also known as: ARA267-beta

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
MDQTCELPRR NCLLPFSNPV NLDAPEDKDS PFGNGQSNFS EPLNGCTMQL
60 70 80 90 100
STVSGTSQNA YGQDSPSCYI PLRRLQDLAS MINVEYLNGS ADGSESFQDP
110 120 130 140 150
EKSDSRAQTP IVCTSLSPGG PTALAMKQEP SCNNSPELQV KVTKTIKNGF
160 170 180 190 200
LHFENFTCVD DADVDSEMDP EQPVTEDESI EEIFEETQTN ATCNYETKSE
210 220 230 240 250
NGVKVAMGSE QDSTPESRHG AVKSPFLPLA PQTETQKNKQ RNEVDGSNEK
260 270 280 290 300
AALLPAPFSL GDTNITIEEQ LNSINLSFQD DPDSSTSTLG NMLELPGTSS
310 320 330 340 350
SSTSQELPFC QPKKKSTPLK YEVGDLIWAK FKRRPWWPCR ICSDPLINTH
360 370 380 390 400
SKMKVSNRRP YRQYYVEAFG DPSERAWVAG KAIVMFEGRH QFEELPVLRR
410 420 430 440 450
RGKQKEKGYR HKVPQKILSK WEASVGLAEQ YDVPKGSKNR KCIPGSIKLD
460 470 480 490 500
SEEDMPFEDC TNDPESEHDL LLNGCLKSLA FDSEHSADEK EKPCAKSRAR
510 520 530 540 550
KSSDNPKRTS VKKGHIQFEA HKDERRGKIP ENLGLNFISG DISDTQASNE
560 570 580 590 600
LSRIANSLTG SNTAPGSFLF SSCGKNTAKK EFETSNGDSL LGLPEGALIS
610 620 630 640 650
KCSREKNKPQ RSLVCGSKVK LCYIGAGDEE KRSDSISICT TSDDGSSDLD
660 670 680 690 700
PIEHSSESDN SVLEIPDAFD RTENMLSMQK NEKIKYSRFA ATNTRVKAKQ
710 720 730 740 750
KPLISNSHTD HLMGCTKSAE PGTETSQVNL SDLKASTLVH KPQSDFTNDA
760 770 780 790 800
LSPKFNLSSS ISSENSLIKG GAANQALLHS KSKQPKFRSI KCKHKENPVM
810 820 830 840 850
AEPPVINEEC SLKCCSSDTK GSPLASISKS GKVDGLKLLN NMHEKTRDSS
860 870 880 890 900
DIETAVVKHV LSELKELSYR SLGEDVSDSG TSKPSKPLLF SSASSQNHIP
910 920 930 940 950
IEPDYKFSTL LMMLKDMHDS KTKEQRLMTA QNLVSYRSPG RGDCSTNSPV
960 970 980 990 1000
GVSKVLVSGG STHNSEKKGD GTQNSANPSP SGGDSALSGE LSASLPGLLS
1010 1020 1030 1040 1050
DKRDLPASGK SRSDCVTRRN CGRSKPSSKL RDAFSAQMVK NTVNRKALKT
1060 1070 1080 1090 1100
ERKRKLNQLP SVTLDAVLQG DRERGGSLRG GAEDPSKEDP LQIMGHLTSE
1110 1120 1130 1140 1150
DGDHFSDVHF DSKVKQSDPG KISEKGLSFE NGKGPELDSV MNSENDELNG
1160 1170 1180 1190 1200
VNQVVPKKRW QRLNQRRTKP RKRMNRFKEK ENSECAFRVL LPSDPVQEGR
1210 1220 1230 1240 1250
DEFPEHRTPS ASILEEPLTE QNHADCLDSA GPRLNVCDKS SASIGDMEKE
1260 1270 1280 1290 1300
PGIPSLTPQA ELPEPAVRSE KKRLRKPSKW LLEYTEEYDQ IFAPKKKQKK
1310 1320 1330 1340 1350
VQEQVHKVSS RCEEESLLAR GRSSAQNKQV DENSLISTKE EPPVLEREAP
1360 1370 1380 1390 1400
FLEGPLAQSE LGGGHAELPQ LTLSVPVAPE VSPRPALESE ELLVKTPGNY
1410 1420 1430 1440 1450
ESKRQRKPTK KLLESNDLDP GFMPKKGDLG LSKKCYEAGH LENGITESCA
1460 1470 1480 1490 1500
TSYSKDFGGG TTKIFDKPRK RKRQRHAAAK MQCKKVKNDD SSKEIPGSEG
1510 1520 1530 1540 1550
ELMPHRTATS PKETVEEGVE HDPGMPASKK MQGERGGGAA LKENVCQNCE
1560 1570 1580 1590 1600
KLGELLLCEA QCCGAFHLEC LGLTEMPRGK FICNECRTGI HTCFVCKQSG
1610 1620 1630 1640 1650
EDVKRCLLPL CGKFYHEECV QKYPPTVMQN KGFRCSLHIC ITCHAANPAN
1660 1670 1680 1690 1700
VSASKGRLMR CVRCPVAYHA NDFCLAAGSK ILASNSIICP NHFTPRRGCR
1710 1720 1730 1740 1750
NHEHVNVSWC FVCSEGGSLL CCDSCPAAFH RECLNIDIPE GNWYCNDCKA
1760 1770 1780 1790 1800
GKKPHYREIV WVKVGRYRWW PAEICHPRAV PSNIDKMRHD VGEFPVLFFG
1810 1820 1830 1840 1850
SNDYLWTHQA RVFPYMEGDV SSKDKMGKGV DGTYKKALQE AAARFEELKA
1860 1870 1880 1890 1900
QKELRQLQED RKNDKKPPPY KHIKVNRPIG RVQIFTADLS EIPRCNCKAT
1910 1920 1930 1940 1950
DENPCGIDSE CINRMLLYEC HPTVCPAGGR CQNQCFSKRQ YPEVEIFRTL
1960 1970 1980 1990 2000
QRGWGLRTKT DIKKGEFVNE YVGELIDEEE CRARIRYAQE HDITNFYMLT
2010 2020 2030 2040 2050
LDKDRIIDAG PKGNYARFMN HCCQPNCETQ KWSVNGDTRV GLFALSDIKA
2060 2070 2080 2090 2100
GTELTFNYNL ECLGNGKTVC KCGAPNCSGF LGVRPKNQPI ATEEKSKKFK
2110 2120 2130 2140 2150
KKQQGKRRTQ GEITKEREDE CFSCGDAGQL VSCKKPGCPK VYHADCLNLT
2160 2170 2180 2190 2200
KRPAGKWECP WHQCDICGKE AASFCEMCPS SFCKQHREGM LFISKLDGRL
2210 2220 2230 2240 2250
SCTEHDPCGP NPLEPGEIRE YVPPPVPLPP GPSTHLAEQS TGMAAQAPKM
2260 2270 2280 2290 2300
SDKPPADTNQ MLSLSKKALA GTCQRPLLPE RPLERTDSRP QPLDKVRDLA
2310 2320 2330 2340 2350
GSGTKSQSLV SSQRPLDRPP AVAGPRPQLS DKPSPVTSPS SSPSVRSQPL
2360 2370 2380 2390 2400
ERPLGTADPR LDKSIGAASP RPQSLEKTSV PTGLRLPPPD RLLITSSPKP
2410 2420 2430 2440 2450
QTSDRPTDKP HASLSQRLPP PEKVLSAVVQ TLVAKEKALR PVDQNTQSKN
2460 2470 2480 2490 2500
RAALVMDLID LTPRQKERAA SPHQVTPQAD EKMPVLESSS WPASKGLGHM
2510 2520 2530 2540 2550
PRAVEKGCVS DPLQTSGKAA APSEDPWQAV KSLTQARLLS QPPAKAFLYE
2560 2570 2580 2590 2600
PTTQASGRAS AGAEQTPGPL SQSPGLVKQA KQMVGGQQLP ALAAKSGQSF
2610 2620 2630 2640 2650
RSLGKAPASL PTEEKKLVTT EQSPWALGKA SSRAGLWPIV AGQTLAQSCW
2660 2670 2680 2690
SAGSTQTLAQ TCWSLGRGQD PKPEQNTLPA LNQAPSSHKC AESEQK
Length:2,696
Mass (Da):296,652
Last modified:December 1, 2001 - 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:i4E80E6DCD9A24C81
GO
Isoform 2 (identifier: Q96L73-2) [UniParc]FASTAAdd to basket
Also known as: ARA267-alpha

The sequence of this isoform differs from the canonical sequence as follows:
     1-269: Missing.
     270-279: QLNSINLSFQ → MPLKTRTALS

Show »
Length:2,427
Mass (Da):267,340
Checksum:i396219A152666E8E
GO
Isoform 3 (identifier: Q96L73-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     310-412: Missing.

Show »
Length:2,593
Mass (Da):284,264
Checksum:iC8B8A25ECD80728A
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 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RBP3D6RBP3_HUMAN
Histone-lysine N-methyltransferase,...
NSD1
94Annotation 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>
D6RBV9D6RBV9_HUMAN
Histone-lysine N-methyltransferase,...
NSD1
124Annotation 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>
D6RA58D6RA58_HUMAN
Histone-lysine N-methyltransferase,...
NSD1
155Annotation 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>
D6RA90D6RA90_HUMAN
Histone-lysine N-methyltransferase,...
NSD1
52Annotation 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>
D6RE14D6RE14_HUMAN
Histone-lysine N-methyltransferase,...
NSD1
34Annotation 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>
H7BYB0H7BYB0_HUMAN
Histone-lysine N-methyltransferase,...
NSD1
64Annotation 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>
D6RG26D6RG26_HUMAN
Histone-lysine N-methyltransferase,...
NSD1
67Annotation 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>
A0A1W2PS55A0A1W2PS55_HUMAN
Histone-lysine N-methyltransferase,...
NSD1
44Annotation 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>
A0A1D5RMR9A0A1D5RMR9_HUMAN
Histone-lysine N-methyltransferase,...
NSD1
9Annotation 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>

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 conflicti1306H → D in AAK92049 (PubMed:11493482).Curated1
Sequence conflicti1397P → Q in AAK92049 (PubMed:11493482).Curated1
Sequence conflicti1478A → V in AAK92049 (PubMed:11493482).Curated1
Sequence conflicti1959 – 1960KT → QE in AAK92049 (PubMed:11493482).Curated2
Sequence conflicti1963K → R in AAK92049 (PubMed:11493482).Curated1
Sequence conflicti1982R → M in AAK92049 (PubMed:11493482).Curated1
Sequence conflicti1986 – 1991RYAQEH → KHAHEN in AAK92049 (PubMed:11493482).Curated6
Sequence conflicti1995N → H in AAK92049 (PubMed:11493482).Curated1
Sequence conflicti2001L → I in AAK92049 (PubMed:11493482).Curated1
Sequence conflicti2016A → S in AAK92049 (PubMed:11493482).Curated1
Sequence conflicti2022C → S in AAK92049 (PubMed:11493482).Curated1
Sequence conflicti2030Q → L in AAK92049 (PubMed:11493482).Curated1
Sequence conflicti2033S → T in AAK92049 (PubMed:11493482).Curated1
Sequence conflicti2045 – 2046LS → VC in AAK92049 (PubMed:11493482).Curated2
Sequence conflicti2049K → P in AAK92049 (PubMed:11493482).Curated1
Sequence conflicti2061E → D in AAK92049 (PubMed:11493482).Curated1
Sequence conflicti2066G → E in AAK92049 (PubMed:11493482).Curated1
Sequence conflicti2071K → R in AAK92049 (PubMed:11493482).Curated1
Sequence conflicti2075P → S in AAK92049 (PubMed:11493482).Curated1
Sequence conflicti2304 – 2305TK → AQ in AAK92049 (PubMed:11493482).Curated2
Sequence conflicti2352R → S in AAK92049 (PubMed:11493482).Curated1
Sequence conflicti2539L → S in AAK92049 (PubMed:11493482).Curated1
Sequence conflicti2543P → S in AAK92049 (PubMed:11493482).Curated1
Sequence conflicti2567 – 2591PGPLS…QQLPA → QGFFTKSPALVENKGKTKWV GRPTNYLH in AAK92049 (PubMed:11493482).CuratedAdd BLAST25
Sequence conflicti2597G → W in AAK92049 (PubMed:11493482).Curated1
Sequence conflicti2608 – 2612ASLPT → PSSPN in AAK92049 (PubMed:11493482).Curated5

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_015775614V → L1 PublicationCorresponds to variant dbSNP:rs3733875EnsemblClinVar.1
Natural variantiVAR_015776691A → T1 PublicationCorresponds to variant dbSNP:rs28932177EnsemblClinVar.1
Natural variantiVAR_015777726S → P2 PublicationsCorresponds to variant dbSNP:rs28932178EnsemblClinVar.1
Natural variantiVAR_0157781036A → P1 PublicationCorresponds to variant dbSNP:rs28932179EnsemblClinVar.1
Natural variantiVAR_0157791091L → I1 PublicationCorresponds to variant dbSNP:rs35597015EnsemblClinVar.1
Natural variantiVAR_0157801616H → L in SOTOS1. 1 Publication1
Natural variantiVAR_0157811637L → P in SOTOS1. 1 Publication1
Natural variantiVAR_0157821674C → W in SOTOS1. 1 Publication1
Natural variantiVAR_0157831687I → N in SOTOS1. 1 Publication1
Natural variantiVAR_0157841792G → V in SOTOS1. 1 Publication1
Natural variantiVAR_0157851925C → R in SOTOS1. 1 Publication1
Natural variantiVAR_0157861955G → D in SOTOS1. 1 Publication1
Natural variantiVAR_0157871984R → Q in SOTOS1; loss of enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs587784169EnsemblClinVar.1
Natural variantiVAR_0157881997Y → C in SOTOS1. 1 PublicationCorresponds to variant dbSNP:rs797045825EnsemblClinVar.1
Natural variantiVAR_0157892005R → Q in SOTOS1; strongly reduced enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs587784174EnsemblClinVar.1
Natural variantiVAR_0157902017R → Q in SOTOS1; loss of enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs587784177EnsemblClinVar.1
Natural variantiVAR_0157912017R → W in SOTOS1. 1 PublicationCorresponds to variant dbSNP:rs587784176EnsemblClinVar.1
Natural variantiVAR_0157922143H → Q in SOTOS1. 1 PublicationCorresponds to variant dbSNP:rs121908068EnsemblClinVar.1
Natural variantiVAR_0157932183C → S in SOTOS1. 1 PublicationCorresponds to variant dbSNP:rs121908069EnsemblClinVar.1
Natural variantiVAR_0157942250M → I1 PublicationCorresponds to variant dbSNP:rs35848863EnsemblClinVar.1
Natural variantiVAR_0157952261M → T1 PublicationCorresponds to variant dbSNP:rs34165241EnsemblClinVar.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_0076821 – 269Missing in isoform 2. 1 PublicationAdd BLAST269
Alternative sequenceiVSP_007683270 – 279QLNSINLSFQ → MPLKTRTALS in isoform 2. 1 Publication10
Alternative sequenceiVSP_007684310 – 412Missing in isoform 3. 1 PublicationAdd BLAST103

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF380302 mRNA Translation: AAL27991.1
AY049721 mRNA Translation: AAL06645.1
AF395588 mRNA Translation: AAL40694.1
AF322907 mRNA Translation: AAK92049.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS4412.1 [Q96L73-1]
CCDS4413.1 [Q96L73-2]

NCBI Reference Sequences

More...
RefSeqi
NP_071900.2, NM_022455.4 [Q96L73-1]
NP_758859.1, NM_172349.2 [Q96L73-2]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.106861

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000347982; ENSP00000343209; ENSG00000165671 [Q96L73-2]
ENST00000354179; ENSP00000346111; ENSG00000165671 [Q96L73-2]
ENST00000439151; ENSP00000395929; ENSG00000165671 [Q96L73-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
64324

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:64324

UCSC genome browser

More...
UCSCi
uc003mfr.5 human [Q96L73-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, 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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF380302 mRNA Translation: AAL27991.1
AY049721 mRNA Translation: AAL06645.1
AF395588 mRNA Translation: AAL40694.1
AF322907 mRNA Translation: AAK92049.1
CCDSiCCDS4412.1 [Q96L73-1]
CCDS4413.1 [Q96L73-2]
RefSeqiNP_071900.2, NM_022455.4 [Q96L73-1]
NP_758859.1, NM_172349.2 [Q96L73-2]
UniGeneiHs.106861

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3OOIX-ray1.75A1852-2082[»]
ProteinModelPortaliQ96L73
SMRiQ96L73
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122135, 42 interactors
DIPiDIP-58517N
IntActiQ96L73, 11 interactors
STRINGi9606.ENSP00000395929

Chemistry databases

BindingDBiQ96L73
ChEMBLiCHEMBL3588738

Protein family/group databases

MoonDBiQ96L73 Predicted

PTM databases

iPTMnetiQ96L73
PhosphoSitePlusiQ96L73

Polymorphism and mutation databases

BioMutaiNSD1
DMDMi32469769

Proteomic databases

EPDiQ96L73
jPOSTiQ96L73
MaxQBiQ96L73
PaxDbiQ96L73
PeptideAtlasiQ96L73
PRIDEiQ96L73
ProteomicsDBi77153
77154 [Q96L73-2]
77155 [Q96L73-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000347982; ENSP00000343209; ENSG00000165671 [Q96L73-2]
ENST00000354179; ENSP00000346111; ENSG00000165671 [Q96L73-2]
ENST00000439151; ENSP00000395929; ENSG00000165671 [Q96L73-1]
GeneIDi64324
KEGGihsa:64324
UCSCiuc003mfr.5 human [Q96L73-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
64324
DisGeNETi64324
EuPathDBiHostDB:ENSG00000165671.18

GeneCards: human genes, protein and diseases

More...
GeneCardsi
NSD1
GeneReviewsiNSD1
HGNCiHGNC:14234 NSD1
HPAiHPA048431
HPA070333
HPA073705
MalaCardsiNSD1
MIMi117550 phenotype
130650 phenotype
606681 gene
neXtProtiNX_Q96L73
OpenTargetsiENSG00000165671
Orphaneti228415 5q35 microduplication syndrome
238613 Beckwith-Wiedemann syndrome due to NSD1 mutation
1627 Deletion 5q35
821 Sotos syndrome
3447 Weaver syndrome
PharmGKBiPA31790

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1081 Eukaryota
COG2940 LUCA
GeneTreeiENSGT00940000155027
HOGENOMiHOG000113857
HOVERGENiHBG007518
InParanoidiQ96L73
KOiK15588
OMAiKKGHMQF
OrthoDBi775337at2759
PhylomeDBiQ96L73
TreeFamiTF329088

Enzyme and pathway databases

ReactomeiR-HSA-3214841 PKMTs methylate histone lysines
SIGNORiQ96L73

Miscellaneous databases

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

More...
ChiTaRSi
NSD1 human

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

More...
GenomeRNAii
64324

Protein Ontology

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PROi
PR:Q96L73

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000165671 Expressed in 193 organ(s), highest expression level in corpus callosum
CleanExiHS_NSD1
ExpressionAtlasiQ96L73 baseline and differential
GenevisibleiQ96L73 HS

Family and domain databases

Gene3Di3.30.40.10, 4 hits
InterProiView protein in InterPro
IPR006560 AWS_dom
IPR003616 Post-SET_dom
IPR000313 PWWP_dom
IPR001214 SET_dom
IPR019786 Zinc_finger_PHD-type_CS
IPR011011 Znf_FYVE_PHD
IPR001965 Znf_PHD
IPR019787 Znf_PHD-finger
IPR013083 Znf_RING/FYVE/PHD
PfamiView protein in Pfam
PF00855 PWWP, 2 hits
PF00856 SET, 1 hit
SMARTiView protein in SMART
SM00570 AWS, 1 hit
SM00249 PHD, 5 hits
SM00508 PostSET, 1 hit
SM00293 PWWP, 2 hits
SM00317 SET, 1 hit
SUPFAMiSSF57903 SSF57903, 3 hits
PROSITEiView protein in PROSITE
PS51215 AWS, 1 hit
PS50868 POST_SET, 1 hit
PS50812 PWWP, 2 hits
PS50280 SET, 1 hit
PS01359 ZF_PHD_1, 2 hits
PS50016 ZF_PHD_2, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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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 nameiNSD1_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: Q96L73
Secondary accession number(s): Q96PD8, Q96RN7
<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: July 3, 2003
Last sequence update: December 1, 2001
Last modified: January 16, 2019
This is version 179 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
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