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Entry version 179 (13 Nov 2019)
Sequence version 1 (01 May 2000)
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Protein

Set1/Ash2 histone methyltransferase complex subunit ASH2

Gene

ASH2L

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

Component of the Set1/Ash2 histone methyltransferase (HMT) complex, a complex that specifically methylates 'Lys-4' of histone H3, but not if the neighboring 'Lys-9' residue is already methylated. As part of the MLL1/MLL complex it is involved in methylation and dimethylation at 'Lys-4' of histone H3. May function as a transcriptional regulator. May play a role in hematopoiesis. In association with RBBP5 and WDR5, stimulates the histone methyltransferase activities of KMT2A, KMT2B, KMT2C, KMT2D, SETD1A and SETD1B (PubMed:21220120, PubMed:22266653).4 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> 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 fingeri1 – 66PHD-type; atypicalAdd BLAST66
Zinc fingeri117 – 150C4-typeAdd BLAST34

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

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-201722 Formation of the beta-catenin:TCF transactivating complex
R-HSA-3214841 PKMTs methylate histone lysines
R-HSA-3769402 Deactivation of the beta-catenin transactivating complex
R-HSA-5617472 Activation of anterior HOX genes in hindbrain development during early embryogenesis
R-HSA-8936459 RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q9UBL3

<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:
Set1/Ash2 histone methyltransferase complex subunit ASH2
Alternative name(s):
ASH2-like 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:ASH2L
Synonyms:ASH2L1
<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 8

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:744 ASH2L

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
604782 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9UBL3

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

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

Keywords - Cellular componenti

Nucleus

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

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>Mutagenesisi296R → K: Abolishes methylation. 1 Publication1
Mutagenesisi300R → K: Slightly decreased methylation. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
9070

Open Targets

More...
OpenTargetsi
ENSG00000129691

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA25044

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9UBL3

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL3137282

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ASH2L

Domain mapping of disease mutations (DMDM)

More...
DMDMi
32141382

<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_00000646971 – 628Set1/Ash2 histone methyltransferase complex subunit ASH2Add BLAST628

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 residuei101PhosphoserineCombined sources1
Modified residuei296Asymmetric dimethylarginine; by PRMT1 and PRMT51 Publication1
Modified residuei316PhosphoserineCombined sources1
Isoform 2 (identifier: Q9UBL3-2)
Modified residuei1N-acetylmethionineCombined sources1
Isoform 3 (identifier: Q9UBL3-3)
Modified residuei1N-acetylmethionineCombined sources1

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

Both monomethylated and dimethylated on arginine residues in the C-terminus. Arg-296 is the major site. Methylation is not required for nuclear localization, nor for MLL complex integrity or maintenance of global histone H3K4me3 levels.1 Publication

Keywords - PTMi

Acetylation, Methylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9UBL3

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9UBL3

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9UBL3

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9UBL3

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

More...
PaxDbi
Q9UBL3

PeptideAtlas

More...
PeptideAtlasi
Q9UBL3

PRoteomics IDEntifications database

More...
PRIDEi
Q9UBL3

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
83994 [Q9UBL3-1]
83995 [Q9UBL3-2]
83996 [Q9UBL3-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9UBL3

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

More...
PhosphoSitePlusi
Q9UBL3

<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

Ubiquitously expressed. Predominantly expressed in adult heart and testis and fetal lung and liver, with barely detectable expression in adult lung, liver, kidney, prostate, and peripheral leukocytes.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000129691 Expressed in 230 organ(s), highest expression level in female gonad

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9UBL3 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9UBL3 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA042289

<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 HCFC1 (PubMed:12670868). Core component of several methyltransferase-containing complexes including MLL1/MLL, MLL2/3 (also named ASCOM complex) and MLL4/WBP7. Each complex is at least composed of ASH2L, RBBP5, WDR5, DPY30, one or more specific histone methyltransferases (KMT2A/MLL1, KMT2D/MLL2, KMT2C/MLL3 and KMT2B/MLL4), and the facultative components PAGR1, BAP18, CHD8, E2F6, HCFC1, HCFC2, HSP70, INO80C, KDM6A, KANSL1, LAS1L, MAX, MCRS1, MEN1, MGA, KAT8/MOF, NCOA6, PAXIP1/PTIP, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9, TEX10 and alpha- and beta-tubulin.

Component of the SET1 complex, at least composed of the catalytic subunit (SETD1A or SETD1B), WDR5, WDR82, RBBP5, ASH2L/ASH2, CXXC1/CFP1, HCFC1 and DPY30 (PubMed:14992727, PubMed:15199122, PubMed:15960975, PubMed:16253997, PubMed:17355966, PubMed:17500065, PubMed:17998332, PubMed:18838538, PubMed:19556245).

Found in a complex with RBBP5, ASH2L, DPY30, KMT2A, KMT2D and WDR5 (By similarity).

Interacts with DPY30 (PubMed:19556245).

Interacts with RBBP5 (PubMed:19556245, PubMed:21220120).

Interacts with SETD1A and SETD1B (PubMed:17998332).

By similarity11 Publications

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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
114528, 84 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q9UBL3

Database of interacting proteins

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DIPi
DIP-29222N

Protein interaction database and analysis system

More...
IntActi
Q9UBL3, 70 interactors

Molecular INTeraction database

More...
MINTi
Q9UBL3

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000340896

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q9UBL3

<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

1628
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

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SMRi
Q9UBL3

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

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

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>Domaini360 – 583B30.2/SPRYPROSITE-ProRule annotationAdd BLAST224

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>Regioni67 – 177DNA-bindingAdd BLAST111
Regioni316 – 628Interaction with RBBP51 PublicationAdd BLAST313

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri1 – 66PHD-type; atypicalAdd BLAST66
Zinc fingeri117 – 150C4-typeAdd BLAST34

Keywords - Domaini

Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2626 Eukaryota
ENOG410Y5GC LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000010474

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000013137

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9UBL3

KEGG Orthology (KO)

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KOi
K14964

Identification of Orthologs from Complete Genome Data

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OMAi
NYVFVCK

Database of Orthologous Groups

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OrthoDBi
444178at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9UBL3

TreeFam database of animal gene trees

More...
TreeFami
TF314785

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR037353 ASH2
IPR001870 B30.2/SPRY
IPR013320 ConA-like_dom_sf
IPR003877 SPRY_dom

The PANTHER Classification System

More...
PANTHERi
PTHR10598 PTHR10598, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00622 SPRY, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00449 SPRY, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF49899 SSF49899, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50188 B302_SPRY, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>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 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9UBL3-1) [UniParc]FASTAAdd to basket
Also known as: ASH2L1

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MAAAGAGPGQ EAGAGPGPGA VANATGAEEG EMKPVAAGAA APPGEGISAA
60 70 80 90 100
PTVEPSSGEA EGGEANLVDV SGGLETESSN GKDTLEGAGD TSEVMDTQAG
110 120 130 140 150
SVDEENGRQL GEVELQCGIC TKWFTADTFG IDTSSCLPFM TNYSFHCNVC
160 170 180 190 200
HHSGNTYFLR KQANLKEMCL SALANLTWQS RTQDEHPKTM FSKDKDIIPF
210 220 230 240 250
IDKYWECMTT RQRPGKMTWP NNIVKTMSKE RDVFLVKEHP DPGSKDPEED
260 270 280 290 300
YPKFGLLDQD LSNIGPAYDN QKQSSAVSTS GNLNGGIAAG SSGKGRGAKR
310 320 330 340 350
KQQDGGTTGT TKKARSDPLF SAQRLPPHGY PLEHPFNKDG YRYILAEPDP
360 370 380 390 400
HAPDPEKLEL DCWAGKPIPG DLYRACLYER VLLALHDRAP QLKISDDRLT
410 420 430 440 450
VVGEKGYSMV RASHGVRKGA WYFEITVDEM PPDTAARLGW SQPLGNLQAP
460 470 480 490 500
LGYDKFSYSW RSKKGTKFHQ SIGKHYSSGY GQGDVLGFYI NLPEDTETAK
510 520 530 540 550
SLPDTYKDKA LIKFKSYLYF EEKDFVDKAE KSLKQTPHSE IIFYKNGVNQ
560 570 580 590 600
GVAYKDIFEG VYFPAISLYK SCTVSINFGP CFKYPPKDLT YRPMSDMGWG
610 620
AVVEHTLADV LYHVETEVDG RRSPPWEP
Length:628
Mass (Da):68,723
Last modified:May 1, 2000 - 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:i8F5F007430D4B863
GO
Isoform 2 (identifier: Q9UBL3-2) [UniParc]FASTAAdd to basket
Also known as: ASH2L2

The sequence of this isoform differs from the canonical sequence as follows:
     1-94: Missing.
     541-573: Missing.

Show »
Length:501
Mass (Da):56,477
Checksum:iBD76059C4DE39703
GO
Isoform 3 (identifier: Q9UBL3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-94: Missing.

Note: No experimental confirmation available.Combined sources
Show »
Length:534
Mass (Da):60,208
Checksum:i4317F1206E97C897
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 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5H8F7F5H8F7_HUMAN
Set1/Ash2 histone methyltransferase...
ASH2L
489Annotation 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>
E5RFH5E5RFH5_HUMAN
Set1/Ash2 histone methyltransferase...
ASH2L
201Annotation 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>
H0YBF6H0YBF6_HUMAN
Set1/Ash2 histone methyltransferase...
ASH2L
192Annotation 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>
H0YAQ0H0YAQ0_HUMAN
Set1/Ash2 histone methyltransferase...
ASH2L
90Annotation 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>
E5RHM1E5RHM1_HUMAN
Set1/Ash2 histone methyltransferase...
ASH2L
121Annotation 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 conflicti212Q → H in AAC13564 (PubMed:11466562).Curated1
Sequence conflicti217M → T in AAC13564 (PubMed:11466562).Curated1
Sequence conflicti292S → T in AAC13563 (PubMed:11466562).Curated1
Sequence conflicti351H → Q in AAC13564 (PubMed:11466562).Curated1
Sequence conflicti360L → I in AAC13564 (PubMed:11466562).Curated1
Sequence conflicti369P → S in AAC13564 (PubMed:11466562).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_050679478S → F. Corresponds to variant dbSNP:rs34167006Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0075771 – 94Missing in isoform 2 and isoform 3. 3 PublicationsAdd BLAST94
Alternative sequenceiVSP_007578541 – 573Missing in isoform 2. 1 PublicationAdd BLAST33

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
AF056718 mRNA Translation: AAC13564.1
AF056717 mRNA Translation: AAC13563.1
AB022785 Genomic DNA Translation: BAA74520.1
AB020982 mRNA Translation: BAA35127.1
AK291938 mRNA Translation: BAF84627.1
CH471080 Genomic DNA Translation: EAW63337.1
CH471080 Genomic DNA Translation: EAW63336.1
CH471080 Genomic DNA Translation: EAW63340.1
BC015936 mRNA Translation: AAH15936.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS47840.1 [Q9UBL3-3]
CCDS59100.1 [Q9UBL3-2]
CCDS6101.1 [Q9UBL3-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001098684.1, NM_001105214.2 [Q9UBL3-3]
NP_001248761.1, NM_001261832.1 [Q9UBL3-2]
NP_004665.2, NM_004674.4 [Q9UBL3-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000343823; ENSP00000340896; ENSG00000129691 [Q9UBL3-1]
ENST00000428278; ENSP00000395310; ENSG00000129691 [Q9UBL3-3]
ENST00000521652; ENSP00000430259; ENSG00000129691 [Q9UBL3-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
9070

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:9070

UCSC genome browser

More...
UCSCi
uc003xkt.6 human [Q9UBL3-1]

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

<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
AF056718 mRNA Translation: AAC13564.1
AF056717 mRNA Translation: AAC13563.1
AB022785 Genomic DNA Translation: BAA74520.1
AB020982 mRNA Translation: BAA35127.1
AK291938 mRNA Translation: BAF84627.1
CH471080 Genomic DNA Translation: EAW63337.1
CH471080 Genomic DNA Translation: EAW63336.1
CH471080 Genomic DNA Translation: EAW63340.1
BC015936 mRNA Translation: AAH15936.1
CCDSiCCDS47840.1 [Q9UBL3-3]
CCDS59100.1 [Q9UBL3-2]
CCDS6101.1 [Q9UBL3-1]
RefSeqiNP_001098684.1, NM_001105214.2 [Q9UBL3-3]
NP_001248761.1, NM_001261832.1 [Q9UBL3-2]
NP_004665.2, NM_004674.4 [Q9UBL3-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3RSNX-ray2.10A96-271[»]
3S32X-ray2.45A95-280[»]
3TOJX-ray2.07A/B370-496[»]
A/B539-617[»]
4RIQX-ray2.23C/F/I/L/O/R/U/X603-618[»]
4X8NX-ray2.10A380-495[»]
A539-598[»]
4X8PX-ray2.20A380-495[»]
A539-598[»]
5F6KX-ray2.41A/B380-496[»]
A/B539-598[»]
5F6LX-ray1.90B380-496[»]
B539-598[»]
6E2HX-ray2.24D380-622[»]
6KIUelectron microscopy3.20T95-628[»]
6KIVelectron microscopy4.00T95-628[»]
6KIWelectron microscopy4.00T95-628[»]
6KIXelectron microscopy4.10T95-628[»]
6KIZelectron microscopy4.50T95-628[»]
SMRiQ9UBL3
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi114528, 84 interactors
CORUMiQ9UBL3
DIPiDIP-29222N
IntActiQ9UBL3, 70 interactors
MINTiQ9UBL3
STRINGi9606.ENSP00000340896

Chemistry databases

BindingDBiQ9UBL3
ChEMBLiCHEMBL3137282

PTM databases

iPTMnetiQ9UBL3
PhosphoSitePlusiQ9UBL3

Polymorphism and mutation databases

BioMutaiASH2L
DMDMi32141382

Proteomic databases

EPDiQ9UBL3
jPOSTiQ9UBL3
MassIVEiQ9UBL3
MaxQBiQ9UBL3
PaxDbiQ9UBL3
PeptideAtlasiQ9UBL3
PRIDEiQ9UBL3
ProteomicsDBi83994 [Q9UBL3-1]
83995 [Q9UBL3-2]
83996 [Q9UBL3-3]

Genome annotation databases

EnsembliENST00000343823; ENSP00000340896; ENSG00000129691 [Q9UBL3-1]
ENST00000428278; ENSP00000395310; ENSG00000129691 [Q9UBL3-3]
ENST00000521652; ENSP00000430259; ENSG00000129691 [Q9UBL3-2]
GeneIDi9070
KEGGihsa:9070
UCSCiuc003xkt.6 human [Q9UBL3-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
9070
DisGeNETi9070

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ASH2L
HGNCiHGNC:744 ASH2L
HPAiHPA042289
MIMi604782 gene
neXtProtiNX_Q9UBL3
OpenTargetsiENSG00000129691
PharmGKBiPA25044

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2626 Eukaryota
ENOG410Y5GC LUCA
GeneTreeiENSGT00390000010474
HOGENOMiHOG000013137
InParanoidiQ9UBL3
KOiK14964
OMAiNYVFVCK
OrthoDBi444178at2759
PhylomeDBiQ9UBL3
TreeFamiTF314785

Enzyme and pathway databases

ReactomeiR-HSA-201722 Formation of the beta-catenin:TCF transactivating complex
R-HSA-3214841 PKMTs methylate histone lysines
R-HSA-3769402 Deactivation of the beta-catenin transactivating complex
R-HSA-5617472 Activation of anterior HOX genes in hindbrain development during early embryogenesis
R-HSA-8936459 RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
SIGNORiQ9UBL3

Miscellaneous databases

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

More...
ChiTaRSi
ASH2L human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
ASH2L

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

More...
GenomeRNAii
9070
PharosiQ9UBL3

Protein Ontology

More...
PROi
PR:Q9UBL3

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000129691 Expressed in 230 organ(s), highest expression level in female gonad
ExpressionAtlasiQ9UBL3 baseline and differential
GenevisibleiQ9UBL3 HS

Family and domain databases

InterProiView protein in InterPro
IPR037353 ASH2
IPR001870 B30.2/SPRY
IPR013320 ConA-like_dom_sf
IPR003877 SPRY_dom
PANTHERiPTHR10598 PTHR10598, 1 hit
PfamiView protein in Pfam
PF00622 SPRY, 1 hit
SMARTiView protein in SMART
SM00449 SPRY, 1 hit
SUPFAMiSSF49899 SSF49899, 1 hit
PROSITEiView protein in PROSITE
PS50188 B302_SPRY, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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 nameiASH2L_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: Q9UBL3
Secondary accession number(s): A8K7C3
, D3DSW9, O60659, O60660, Q96B62
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 16, 2003
Last sequence update: May 1, 2000
Last modified: November 13, 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. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. 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
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