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UniProtKB - Q9NR48 (ASH1L_HUMAN)

Protein

Histone-lysine N-methyltransferase ASH1L

Gene

ASH1L

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 specifically methylating 'Lys-36' of histone H3 (H3K36me).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

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi887 – 899A.T hook 1Add BLAST13
DNA bindingi1347 – 1359A.T hook 2Add BLAST13
DNA bindingi1847 – 1859A.T hook 3Add BLAST13
<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 fingeri2585 – 2631PHD-typeAdd BLAST47

<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

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

<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, Transferase
Biological processTranscription, Transcription regulation
LigandMetal-binding, S-adenosyl-L-methionine, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-3214841 PKMTs methylate histone lysines

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q9NR48

<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 ASH1L (EC:2.1.1.43)
Alternative name(s):
ASH1-like protein
Short name:
huASH1
Absent small and homeotic disks protein 1 homolog
Lysine N-methyltransferase 2H
<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:ASH1L
Synonyms:KIAA1420, KMT2H
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000116539.10

Human Gene Nomenclature Database

More...HGNCi		HGNC:19088 ASH1L

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		607999 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9NR48

<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

Cell junction, Chromosome, Nucleus, Tight junction

<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

Mental retardation, autosomal dominant 52 (MRD52)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
See also OMIM:617796
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_069406724A → S in MRD52; unknown pathological significance. 1 Publication1
Natural variantiVAR_069407972K → R in MRD52; unknown pathological significance. 1 Publication1
Natural variantiVAR_0694081276Y → H in MRD52; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs539982914Ensembl.1
Natural variantiVAR_0694091775C → W in MRD52; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs753734834Ensembl.1
Natural variantiVAR_0805592085V → I in MRD52; unknown pathological significance. 1 Publication1
Natural variantiVAR_0805602148 – 2969Missing in MRD52. 1 PublicationAdd BLAST822
Natural variantiVAR_0805612396R → H in MRD52; unknown pathological significance. 1 Publication1
Natural variantiVAR_0805622791A → P in MRD52. 1 Publication1
Natural variantiVAR_0694102853D → G in MRD52; unknown pathological significance. 1 Publication1

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>Mutagenesisi1220Q → R: Abolishes methylation by N6AMT1. 1 Publication1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

More...DisGeNETi		55870

MalaCards human disease database

More...MalaCardsi		ASH1L
MIMi617796 phenotype

Open Targets

More...OpenTargetsi		ENSG00000116539

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134891064

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL3588739

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ASH1L

Domain mapping of disease mutations (DMDM)

More...DMDMi		117949323

<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_00002595161 – 2969Histone-lysine N-methyltransferase ASH1LAdd BLAST2969

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 residuei22PhosphoserineCombined 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-linki34Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei375N6-acetyllysineCombined sources1
Cross-linki425Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei1162PhosphoserineBy similarity1
Modified residuei1170PhosphoserineBy similarity1
Modified residuei1220N5-methylglutamine1 Publication1
Modified residuei2317N6-acetyllysineBy similarity1
Modified residuei2319N6-acetyllysineBy similarity1
Modified residuei2323N6-acetyllysineBy similarity1

<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

Methylated at Gln-1220 by N6AMT1.1 Publication

Keywords - PTMi

Acetylation, Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9NR48

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

More...PaxDbi		Q9NR48

PeptideAtlas

More...PeptideAtlasi		Q9NR48

PRoteomics IDEntifications database

More...PRIDEi		Q9NR48

ProteomicsDB human proteome resource

More...ProteomicsDBi		82273
82274 [Q9NR48-2]

PTM databases

CarbonylDB database of protein carbonylation sites

More...CarbonylDBi		Q9NR48

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9NR48

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

More...PhosphoSitePlusi		Q9NR48

<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, with highest level in brain, heart and kidney.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000116539 Expressed in 211 organ(s), highest expression level in amniotic fluid

CleanEx database of gene expression profiles

More...CleanExi		HS_ASH1L

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9NR48 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9NR48 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA004806

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		120969, 13 interactors

Protein interaction database and analysis system

More...IntActi		Q9NR48, 6 interactors

Molecular INTeraction database

More...MINTi		Q9NR48

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000376204

<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

12969
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		Q9NR48

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

More...SMRi		Q9NR48

Database of comparative protein structure models

More...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		Q9NR48

<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>Domaini2091 – 2142AWSPROSITE-ProRule annotationAdd BLAST52
Domaini2145 – 2261SETPROSITE-ProRule annotationAdd BLAST117
Domaini2269 – 2285Post-SETPROSITE-ProRule annotationAdd BLAST17
Domaini2463 – 2533BromoPROSITE-ProRule annotationAdd BLAST71
Domaini2661 – 2798BAHPROSITE-ProRule annotationAdd BLAST138

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>Regioni2069 – 2288Catalytic domainAdd BLAST220

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 biasi1380 – 1424Pro-richAdd BLAST45
Compositional biasi1580 – 1791Ser-richAdd BLAST212

<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. Histone-lysine methyltransferase family. SET2 subfamily.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri2585 – 2631PHD-typeAdd BLAST47

Keywords - Domaini

Bromodomain, Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1083 Eukaryota
COG2940 LUCA
COG5076 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156698

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000034094

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG080871

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9NR48

KEGG Orthology (KO)

More...KOi		K06101

Identification of Orthologs from Complete Genome Data

More...OMAi		HSEMTDY

Database of Orthologous Groups

More...OrthoDBi		EOG091G02U7

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9NR48

TreeFam database of animal gene trees

More...TreeFami		TF106416

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.20.920.10, 1 hit
3.30.40.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR017956 AT_hook_DNA-bd_motif
IPR006560 AWS_dom
IPR001025 BAH_dom
IPR001487 Bromodomain
IPR036427 Bromodomain-like_sf
IPR003616 Post-SET_dom
IPR001214 SET_dom
IPR019786 Zinc_finger_PHD-type_CS
IPR011011 Znf_FYVE_PHD
IPR001965 Znf_PHD
IPR013083 Znf_RING/FYVE/PHD

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01426 BAH, 1 hit
PF00439 Bromodomain, 1 hit
PF00856 SET, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00384 AT_hook, 4 hits
SM00570 AWS, 1 hit
SM00439 BAH, 1 hit
SM00297 BROMO, 1 hit
SM00249 PHD, 1 hit
SM00317 SET, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF47370 SSF47370, 1 hit
SSF57903 SSF57903, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51215 AWS, 1 hit
PS51038 BAH, 1 hit
PS50014 BROMODOMAIN_2, 1 hit
PS50868 POST_SET, 1 hit
PS50280 SET, 1 hit
PS01359 ZF_PHD_1, 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 (2+)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 2 <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 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NR48-1) [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
MDPRNTAMLG LGSDSEGFSR KSPSAISTGT LVSKREVELE KNTKEEEDLR 
        60         70         80         90        100
KRNRERNIEA GKDDGLTDAQ QQFSVKETNF SEGNLKLKIG LQAKRTKKPP 
       110        120        130        140        150
KNLENYVCRP AIKTTIKHPR KALKSGKMTD EKNEHCPSKR DPSKLYKKAD 
       160        170        180        190        200
DVAAIECQSE EVIRLHSQGE NNPLSKKLSP VHSEMADYIN ATPSTLLGSR 
       210        220        230        240        250
DPDLKDRALL NGGTSVTEKL AQLIATCPPS KSSKTKPKKL GTGTTAGLVS 
       260        270        280        290        300
KDLIRKAGVG SVAGIIHKDL IKKPTISTAV GLVTKDPGKK PVFNAAVGLV 
       310        320        330        340        350
NKDSVKKLGT GTTAVFINKN LGKKPGTITT VGLLSKDSGK KLGIGIVPGL 
       360        370        380        390        400
VHKESGKKLG LGTVVGLVNK DLGKKLGSTV GLVAKDCAKK IVASSAMGLV 
       410        420        430        440        450
NKDIGKKLMS CPLAGLISKD AINLKAEALL PTQEPLKASC STNINNQESQ 
       460        470        480        490        500
ELSESLKDSA TSKTFEKNVV RQNKESILEK FSVRKEIINL EKEMFNEGTC 
       510        520        530        540        550
IQQDSFSSSE KGSYETSKHE KQPPVYCTSP DFKMGGASDV STAKSPFSAV 
       560        570        580        590        600
GESNLPSPSP TVSVNPLTRS PPETSSQLAP NPLLLSSTTE LIEEISESVG 
       610        620        630        640        650
KNQFTSESTH LNVGHRSVGH SISIECKGID KEVNDSKTTH IDIPRISSSL 
       660        670        680        690        700
GKKPSLTSES SIHTITPSVV NFTSLFSNKP FLKLGAVSAS DKHCQVAESL 
       710        720        730        740        750
STSLQSKPLK KRKGRKPRWT KVVARSTCRS PKGLELERSE LFKNVSCSSL 
       760        770        780        790        800
SNSNSEPAKF MKNIGPPSFV DHDFLKRRLP KLSKSTAPSL ALLADSEKPS 
       810        820        830        840        850
HKSFATHKLS SSMCVSSDLL SDIYKPKRGR PKSKEMPQLE GPPKRTLKIP 
       860        870        880        890        900
ASKVFSLQSK EEQEPPILQP EIEIPSFKQG LSVSPFPKKR GRPKRQMRSP 
       910        920        930        940        950
VKMKPPVLSV APFVATESPS KLESESDNHR SSSDFFESED QLQDPDDLDD 
       960        970        980        990       1000
SHRPSVCSMS DLEMEPDKKI TKRNNGQLMK TIIRKINKMK TLKRKKLLNQ 
      1010       1020       1030       1040       1050
ILSSSVESSN KGKVQSKLHN TVSSLAATFG SKLGQQINVS KKGTIYIGKR 
      1060       1070       1080       1090       1100
RGRKPKTVLN GILSGSPTSL AVLEQTAQQA AGSALGQILP PLLPSSASSS 
      1110       1120       1130       1140       1150
EILPSPICSQ SSGTSGGQSP VSSDAGFVEP SSVPYLHLHS RQGSMIQTLA 
      1160       1170       1180       1190       1200
MKKASKGRRR LSPPTLLPNS PSHLSELTSL KEATPSPISE SHSDETIPSD 
      1210       1220       1230       1240       1250
SGIGTDNNST SDRAEKFCGQ KKRRHSFEHV SLIPPETSTV LSSLKEKHKH 
      1260       1270       1280       1290       1300
KCKRRNHDYL SYDKMKRQKR KRKKKYPQLR NRQDPDFIAE LEELISRLSE 
      1310       1320       1330       1340       1350
IRITHRSHHF IPRDLLPTIF RINFNSFYTH PSFPLDPLHY IRKPDLKKKR 
      1360       1370       1380       1390       1400
GRPPKMREAM AEMPFMHSLS FPLSSTGFYP SYGMPYSPSP LTAAPIGLGY 
      1410       1420       1430       1440       1450
YGRYPPTLYP PPPSPSFTTP LPPPSYMHAG HLLLNPAKYH KKKHKLLRQE 
      1460       1470       1480       1490       1500
AFLTTSRTPL LSMSTYPSVP PEMAYGWMVE HKHRHRHKHR EHRSSEQPQV 
      1510       1520       1530       1540       1550
SMDTGSSRSV LESLKRYRFG KDAVGERYKH KEKHRCHMSC PHLSPSKSLI 
      1560       1570       1580       1590       1600
NREEQWVHRE PSESSPLALG LQTPLQIDCS ESSPSLSLGG FTPNSEPASS 
      1610       1620       1630       1640       1650
DEHTNLFTSA IGSCRVSNPN SSGRKKLTDS PGLFSAQDTS LNRLHRKESL 
      1660       1670       1680       1690       1700
PSNERAVQTL AGSQPTSDKP SQRPSESTNC SPTRKRSSSE STSSTVNGVP 
      1710       1720       1730       1740       1750
SRSPRLVASG DDSVDSLLQR MVQNEDQEPM EKSIDAVIAT ASAPPSSSPG 
      1760       1770       1780       1790       1800
RSHSKDRTLG KPDSLLVPAV TSDSCNNSIS LLSEKLTSSC SPHHIKRSVV 
      1810       1820       1830       1840       1850
EAMQRQARKM CNYDKILATK KNLDHVNKIL KAKKLQRQAR TGNNFVKRRP 
      1860       1870       1880       1890       1900
GRPRKCPLQA VVSMQAFQAA QFVNPELNRD EEGAALHLSP DTVTDVIEAV 
      1910       1920       1930       1940       1950
VQSVNLNPEH KKGLKRKGWL LEEQTRKKQK PLPEEEEQEN NKSFNEAPVE 
      1960       1970       1980       1990       2000
IPSPSETPAK PSEPESTLQP VLSLIPREKK PPRPPKKKYQ KAGLYSDVYK 
      2010       2020       2030       2040       2050
TTDPKSRLIQ LKKEKLEYTP GEHEYGLFPA PIHVVFFVSG KYLRQKRIDF 
      2060       2070       2080       2090       2100
QLPYDILWQW KHNQLYKKPD VPLYKKIRSN VYVDVKPLSG YEATTCNCKK 
      2110       2120       2130       2140       2150
PDDDTRKGCV DDCLNRMIFA ECSPNTCPCG EQCCNQRIQR HEWVQCLERF 
      2160       2170       2180       2190       2200
RAEEKGWGIR TKEPLKAGQF IIEYLGEVVS EQEFRNRMIE QYHNHSDHYC 
      2210       2220       2230       2240       2250
LNLDSGMVID SYRMGNEARF INHSCDPNCE MQKWSVNGVY RIGLYALKDM 
      2260       2270       2280       2290       2300
PAGTELTYDY NFHSFNVEKQ QLCKCGFEKC RGIIGGKSQR VNGLTSSKNS 
      2310       2320       2330       2340       2350
QPMATHKKSG RSKEKRKSKH KLKKRRGHLS EEPSENINTP TRLTPQLQMK 
      2360       2370       2380       2390       2400
PMSNRERNFV LKHHVFLVRN WEKIRQKQEE VKHTSDNIHS ASLYTRWNGI 
      2410       2420       2430       2440       2450
CRDDGNIKSD VFMTQFSALQ TARSVRTRRL AAAEENIEVA RAARLAQIFK 
      2460       2470       2480       2490       2500
EICDGIISYK DSSRQALAAP LLNLPPKKKN ADYYEKISDP LDLITIEKQI 
      2510       2520       2530       2540       2550
LTGYYKTVEA FDADMLKVFR NAEKYYGRKS PVGRDVCRLR KAYYNARHEA 
      2560       2570       2580       2590       2600
SAQIDEIVGE TASEADSSET SVSEKENGHE KDDDVIRCIC GLYKDEGLMI 
      2610       2620       2630       2640       2650
QCDKCMVWQH CDCMGVNSDV EHYLCEQCDP RPVDREVPMI PRPHYAQPGC 
      2660       2670       2680       2690       2700
VYFICLLRDD LLLRQGDCVY LMRDSRRTPD GHPVRQSYRL LSHINRDKLD 
      2710       2720       2730       2740       2750
IFRIEKLWKN EKEERFAFGH HYFRPHETHH SPSRRFYHNE LFRVPLYEII 
      2760       2770       2780       2790       2800
PLEAVVGTCC VLDLYTYCKG RPKGVKEQDV YICDYRLDKS AHLFYKIHRN 
      2810       2820       2830       2840       2850
RYPVCTKPYA FDHFPKKLTP KKDFSPHYVP DNYKRNGGRS SWKSERSKPP 
      2860       2870       2880       2890       2900
LKDLGQEDDA LPLIEEVLAS QEQAANEIPS LEEPEREGAT ANVSEGEKKT 
      2910       2920       2930       2940       2950
EESSQEPQST CTPEERRHNQ RERLNQILLN LLEKIPGKNA IDVTYLLEEG 
      2960 
SGRKLRRRTL FIPENSFRK
Length:2,969
Mass (Da):332,790
Last modified:October 31, 2006 - v2
<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:iDA0135C72A2E2065
GO
Isoform 2 (identifier: Q9NR48-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2035-2039: Missing.

Show »
Length:2,964
Mass (Da):332,211
Checksum:i4D6E14A56BB20329
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YI82H0YI82_HUMAN
Histone-lysine N-methyltransferase ...
ASH1L
154Annotation 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>
F8VWK7F8VWK7_HUMAN
Histone-lysine N-methyltransferase ...
ASH1L
177Annotation score:

Annotation score:1 out of 5

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

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

The sequence BAA92658 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.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 conflicti2594K → N in AAF68983 (PubMed:10860993).Curated1
Sequence conflicti2697D → H in AAF68983 (PubMed:10860993).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069405277S → G1 PublicationCorresponds to variant dbSNP:rs186255422Ensembl.1
Natural variantiVAR_069406724A → S in MRD52; unknown pathological significance. 1 Publication1
Natural variantiVAR_069407972K → R in MRD52; unknown pathological significance. 1 Publication1
Natural variantiVAR_0694081276Y → H in MRD52; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs539982914Ensembl.1
Natural variantiVAR_0559051416S → P. Corresponds to variant dbSNP:rs13373934Ensembl.1
Natural variantiVAR_0289491771T → A1 PublicationCorresponds to variant dbSNP:rs4971053Ensembl.1
Natural variantiVAR_0694091775C → W in MRD52; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs753734834Ensembl.1
Natural variantiVAR_0805592085V → I in MRD52; unknown pathological significance. 1 Publication1
Natural variantiVAR_0805602148 – 2969Missing in MRD52. 1 PublicationAdd BLAST822
Natural variantiVAR_0805612396R → H in MRD52; unknown pathological significance. 1 Publication1
Natural variantiVAR_0805622791A → P in MRD52. 1 Publication1
Natural variantiVAR_0694102853D → G in MRD52; unknown pathological significance. 1 Publication1

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_0394212035 – 2039Missing in isoform 2. 1 Publication5

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
AF257305 mRNA Translation: AAF68983.1
AL139410 Genomic DNA No translation available.
AL353807 Genomic DNA No translation available.
AB037841 mRNA Translation: BAA92658.1 Different initiation.
AB209068 mRNA Translation: BAD92305.1
DB282357 mRNA No translation available.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS1113.2 [Q9NR48-2]

NCBI Reference Sequences

More...RefSeqi		NP_060959.2, NM_018489.2 [Q9NR48-2]
XP_006711513.1, XM_006711450.3 [Q9NR48-2]
XP_006711514.1, XM_006711451.3 [Q9NR48-2]
XP_016857273.1, XM_017001784.1 [Q9NR48-2]
XP_016857274.1, XM_017001785.1 [Q9NR48-2]

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.491060

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000368346; ENSP00000357330; ENSG00000116539 [Q9NR48-1]
ENST00000392403; ENSP00000376204; ENSG00000116539 [Q9NR48-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		55870

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:55870

UCSC genome browser

More...UCSCi		uc001fkt.4 human [Q9NR48-1]

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
AF257305 mRNA Translation: AAF68983.1
AL139410 Genomic DNA No translation available.
AL353807 Genomic DNA No translation available.
AB037841 mRNA Translation: BAA92658.1 Different initiation.
AB209068 mRNA Translation: BAD92305.1
DB282357 mRNA No translation available.
CCDSiCCDS1113.2 [Q9NR48-2]
RefSeqiNP_060959.2, NM_018489.2 [Q9NR48-2]
XP_006711513.1, XM_006711450.3 [Q9NR48-2]
XP_006711514.1, XM_006711451.3 [Q9NR48-2]
XP_016857273.1, XM_017001784.1 [Q9NR48-2]
XP_016857274.1, XM_017001785.1 [Q9NR48-2]
UniGeneiHs.491060

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3MQMX-ray2.54A/B2438-2561[»]
3OPEX-ray2.90A/B2074-2293[»]
4YNMX-ray2.19A/B2074-2293[»]
4YNPX-ray2.90A/B2074-2293[»]
4YPAX-ray2.30A/B/C/D2074-2293[»]
4YPEX-ray2.20A/B2074-2293[»]
4YPUX-ray2.60A/B2074-2293[»]
ProteinModelPortaliQ9NR48
SMRiQ9NR48
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120969, 13 interactors
IntActiQ9NR48, 6 interactors
MINTiQ9NR48
STRINGi9606.ENSP00000376204

Chemistry databases

ChEMBLiCHEMBL3588739

PTM databases

CarbonylDBiQ9NR48
iPTMnetiQ9NR48
PhosphoSitePlusiQ9NR48

Polymorphism and mutation databases

BioMutaiASH1L
DMDMi117949323

Proteomic databases

MaxQBiQ9NR48
PaxDbiQ9NR48
PeptideAtlasiQ9NR48
PRIDEiQ9NR48
ProteomicsDBi82273
82274 [Q9NR48-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000368346; ENSP00000357330; ENSG00000116539 [Q9NR48-1]
ENST00000392403; ENSP00000376204; ENSG00000116539 [Q9NR48-2]
GeneIDi55870
KEGGihsa:55870
UCSCiuc001fkt.4 human [Q9NR48-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		55870
DisGeNETi55870
EuPathDBiHostDB:ENSG00000116539.10

GeneCards: human genes, protein and diseases

More...GeneCardsi		ASH1L
HGNCiHGNC:19088 ASH1L
HPAiHPA004806
MalaCardsiASH1L
MIMi607999 gene
617796 phenotype
neXtProtiNX_Q9NR48
OpenTargetsiENSG00000116539
PharmGKBiPA134891064

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1083 Eukaryota
COG2940 LUCA
COG5076 LUCA
GeneTreeiENSGT00940000156698
HOGENOMiHOG000034094
HOVERGENiHBG080871
InParanoidiQ9NR48
KOiK06101
OMAiHSEMTDY
OrthoDBiEOG091G02U7
PhylomeDBiQ9NR48
TreeFamiTF106416

Enzyme and pathway databases

ReactomeiR-HSA-3214841 PKMTs methylate histone lysines
SIGNORiQ9NR48

Miscellaneous databases

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

More...ChiTaRSi		ASH1L human
EvolutionaryTraceiQ9NR48

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		ASH1L

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

More...GenomeRNAii		55870

Protein Ontology

More...PROi		PR:Q9NR48

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000116539 Expressed in 211 organ(s), highest expression level in amniotic fluid
CleanExiHS_ASH1L
ExpressionAtlasiQ9NR48 baseline and differential
GenevisibleiQ9NR48 HS

Family and domain databases

Gene3Di1.20.920.10, 1 hit
3.30.40.10, 1 hit
InterProiView protein in InterPro
IPR017956 AT_hook_DNA-bd_motif
IPR006560 AWS_dom
IPR001025 BAH_dom
IPR001487 Bromodomain
IPR036427 Bromodomain-like_sf
IPR003616 Post-SET_dom
IPR001214 SET_dom
IPR019786 Zinc_finger_PHD-type_CS
IPR011011 Znf_FYVE_PHD
IPR001965 Znf_PHD
IPR013083 Znf_RING/FYVE/PHD
PfamiView protein in Pfam
PF01426 BAH, 1 hit
PF00439 Bromodomain, 1 hit
PF00856 SET, 1 hit
SMARTiView protein in SMART
SM00384 AT_hook, 4 hits
SM00570 AWS, 1 hit
SM00439 BAH, 1 hit
SM00297 BROMO, 1 hit
SM00249 PHD, 1 hit
SM00317 SET, 1 hit
SUPFAMiSSF47370 SSF47370, 1 hit
SSF57903 SSF57903, 1 hit
PROSITEiView protein in PROSITE
PS51215 AWS, 1 hit
PS51038 BAH, 1 hit
PS50014 BROMODOMAIN_2, 1 hit
PS50868 POST_SET, 1 hit
PS50280 SET, 1 hit
PS01359 ZF_PHD_1, 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 nameiASH1L_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: Q9NR48
Secondary accession number(s): Q59GP1
, Q5T714, Q5T715, Q9P2C7
<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: October 31, 2006
Last sequence update: October 31, 2006
Last modified: December 5, 2018
This is version 153 of the entry and version 2 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 chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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