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Entry version 162 (22 Apr 2020)
Sequence version 4 (28 Mar 2018)
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Protein

Polycomb group protein ASXL1

Gene

ASXL1

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

Probable Polycomb group (PcG) protein involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as retinoic acid receptors (RARs) and peroxisome proliferator-activated receptor gamma (PPARG) (PubMed:16606617). Acts as coactivator of RARA and RXRA through association with NCOA1 (PubMed:16606617). Acts as corepressor for PPARG and suppresses its adipocyte differentiation-inducing activity (By similarity). Non-catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-119' (H2AK119ub1) (PubMed:20436459). Acts as a sensor of N6-methyladenosine methylation on DNA (m6A): recognizes and binds m6A DNA, leading to its ubiquitination and degradation by TRIP12, thereby inactivating the PR-DUB complex and regulating Polycomb silencing (PubMed:30982744).By similarity3 Publications

Caution

Was previously reported to interact with KDM1A, CBX1, CBX3 and CBX5. However, this publication has been retracted.2 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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 fingeri1503 – 1540PHD-type; atypicalAdd BLAST38

<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, Repressor
Biological processTranscription, Transcription regulation, Ubl conjugation pathway
LigandMetal-binding, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-5689603 UCH proteinases

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q8IXJ9

<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%5Fand%5Ftaxonomy%5Fsection">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:
Polycomb group protein ASXL1
Alternative name(s):
Additional sex combs-like protein 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:ASXL1
Synonyms:KIAA0978
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 20

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:18318 ASXL1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
612990 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8IXJ9

<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

<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

Bohring-Opitz syndrome (BOPS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by severe intrauterine growth retardation, poor feeding, profound mental retardation, trigonocephaly, prominent metopic suture, exophthalmos, nevus flammeus of the face, upslanting palpebral fissures, hirsutism, and flexion of the elbows and wrists with deviation of the wrists and metacarpophalangeal joints.
Related information in OMIM
Myelodysplastic syndrome (MDS)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA heterogeneous group of closely related clonal hematopoietic disorders. All are characterized by a hypercellular or hypocellular bone marrow with impaired morphology and maturation, dysplasia of the myeloid, megakaryocytic and/or erythroid lineages, and peripheral blood cytopenias resulting from ineffective blood cell production. Included diseases are: refractory anemia (RA), refractory anemia with ringed sideroblasts (RARS), refractory anemia with excess blasts (RAEB), refractory cytopenia with multilineage dysplasia and ringed sideroblasts (RCMD-RS); chronic myelomonocytic leukemia (CMML) is a myelodysplastic/myeloproliferative disease. MDS is considered a premalignant condition in a subgroup of patients that often progresses to acute myeloid leukemia (AML).
Related information in OMIM

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'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>Mutagenesisi1108V → A: Abolishes interaction with RARA. 1 Publication1
Mutagenesisi1111L → A: Abolishes interaction with RARA. 1 Publication1

Keywords - Diseasei

Craniosynostosis

Organism-specific databases

DisGeNET

More...
DisGeNETi
171023

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

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GeneReviewsi
ASXL1

MalaCards human disease database

More...
MalaCardsi
ASXL1
MIMi605039 phenotype
614286 phenotype

Open Targets

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OpenTargetsi
ENSG00000171456

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

More...
Orphaneti
97297 Bohring-Opitz syndrome
98849 Systemic mastocytosis with associated hematologic neoplasm

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA25078

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
Q8IXJ9 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ASXL1

Domain mapping of disease mutations (DMDM)

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DMDMi
317373477

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000593211 – 1541Polycomb group protein ASXL1Add BLAST1541

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 residuei501PhosphoserineCombined sources1
Modified residuei503PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Ubiquitinated by TRIP12, leading to its subsequent degradation following binding N6-methyladenosine methylated DNA (m6A).1 Publication

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q8IXJ9

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q8IXJ9

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q8IXJ9

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

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PaxDbi
Q8IXJ9

PeptideAtlas

More...
PeptideAtlasi
Q8IXJ9

PRoteomics IDEntifications database

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PRIDEi
Q8IXJ9

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
71012 [Q8IXJ9-1]
71013 [Q8IXJ9-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q8IXJ9

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

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PhosphoSitePlusi
Q8IXJ9

<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 at low level. Expressed in heart, brain, skeletal muscle, placenta, pancreas, spleen, prostate, small intestine, colon, peripheral blood, leukocytes, bone marrow and fetal liver. Highly expressed in testes.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000171456 Expressed in left lobe of thyroid gland and 226 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q8IXJ9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8IXJ9 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000171456 Low tissue specificity

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of the PR-DUB complex, at least composed of BAP1 and ASXL1 (PubMed:20436459).

Interacts with RARA, RXRA and NCOA1 (PubMed:16606617).

Interacts with PPARA and PPARG (By similarity).

By similarity1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Show more details

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
128104, 32 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-414 PR-DUB complex

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q8IXJ9

Database of interacting proteins

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DIPi
DIP-46910N

Protein interaction database and analysis system

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IntActi
Q8IXJ9, 39 interactors

Molecular INTeraction database

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MINTi
Q8IXJ9

STRING: functional protein association networks

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STRINGi
9606.ENSP00000364839

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

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RNActi
Q8IXJ9 protein

<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

3D structure databases

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

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SMRi
Q8IXJ9

Database of comparative protein structure models

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ModBasei
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%5Fand%5Fdomains%5Fsection">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>Domaini11 – 86HTH HARE-typePROSITE-ProRule annotationAdd BLAST76

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>Regioni300 – 658Interaction with NCOA11 PublicationAdd BLAST359
Regioni1107 – 1112Required for interaction with RARA1 Publication6

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi160 – 164Nuclear localization signal 1Sequence analysis5
Motifi284 – 288LXXLL motif5
Motifi409 – 413Nuclear localization signal 2Sequence analysis5

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 biasi2 – 9Poly-Lys8
Compositional biasi199 – 209Poly-SerAdd BLAST11
Compositional biasi641 – 684Gly-richAdd BLAST44
Compositional biasi1457 – 1460Poly-Ser4

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

The HARE HTH-type domain recognizes and binds N6-methyladenosine methylated DNA (m6A).1 Publication
Contains one Leu-Xaa-Xaa-Leu-Leu (LXXLL) motif, which may be required for an association with nuclear receptors.

<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 Asx family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri1503 – 1540PHD-type; atypicalAdd BLAST38

Keywords - Domaini

Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IGAP Eukaryota
ENOG410YF2J LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00520000055578

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_247862_0_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8IXJ9

KEGG Orthology (KO)

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KOi
K11471

Identification of Orthologs from Complete Genome Data

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OMAi
EESCPLQ

Database of Orthologous Groups

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OrthoDBi
53757at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q8IXJ9

TreeFam database of animal gene trees

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TreeFami
TF328464

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR026905 ASX-like_PHD
IPR024811 ASX/ASX-like
IPR028020 ASXH
IPR024815 ASXL1
IPR007759 HB1/Asxl_HTH

The PANTHER Classification System

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PANTHERi
PTHR13578 PTHR13578, 1 hit
PTHR13578:SF19 PTHR13578:SF19, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF13919 ASXH, 1 hit
PF05066 HARE-HTH, 1 hit
PF13922 PHD_3, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51913 HTH_HARE, 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%5Flength">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 (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<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 12 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8IXJ9-1) [UniParc]FASTAAdd to basket

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
MKDKQKKKKE RTWAEAARLV LENYSDAPMT PKQILQVIEA EGLKEMRSGT
60 70 80 90 100
SPLACLNAML HSNSRGGEGL FYKLPGRISL FTLKKDALQW SRHPATVEGE
110 120 130 140 150
EPEDTADVES CGSNEASTVS GENDVSLDET SSNASCSTES QSRPLSNPRD
160 170 180 190 200
SYRASSQANK QKKKTGVMLP RVVLTPLKVN GAHVESASGF SGCHADGESG
210 220 230 240 250
SPSSSSSGSL ALGSAAIRGQ AEVTQDPAPL LRGFRKPATG QMKRNRGEEI
260 270 280 290 300
DFETPGSILV NTNLRALINS RTFHALPSHF QQQLLFLLPE VDRQVGTDGL
310 320 330 340 350
LRLSSSALNN EFFTHAAQSW RERLADGEFT HEMQVRIRQE MEKEKKVEQW
360 370 380 390 400
KEKFFEDYYG QKLGLTKEES LQQNVGQEEA EIKSGLCVPG ESVRIQRGPA
410 420 430 440 450
TRQRDGHFKK RSRPDLRTRA RRNLYKKQES EQAGVAKDAK SVASDVPLYK
460 470 480 490 500
DGEAKTDPAG LSSPHLPGTS SAAPDLEGPE FPVESVASRI QAEPDNLARA
510 520 530 540 550
SASPDRIPSL PQETVDQEPK DQKRKSFEQA ASASFPEKKP RLEDRQSFRN
560 570 580 590 600
TIESVHTEKP QPTKEEPKVP PIRIQLSRIK PPWVVKGQPT YQICPRIIPT
610 620 630 640 650
TESSCRGWTG ARTLADIKAR ALQVRGARGH HCHREAATTA IGGGGGPGGG
660 670 680 690 700
GGGATDEGGG RGSSSGDGGE ACGHPEPRGG PSTPGKCTSD LQRTQLLPPY
710 720 730 740 750
PLNGEHTQAG TAMSRARRED LPSLRKEESC LLQRATVGLT DGLGDASQLP
760 770 780 790 800
VAPTGDQPCQ ALPLLSSQTS VAERLVEQPQ LHPDVRTECE SGTTSWESDD
810 820 830 840 850
EEQGPTVPAD NGPIPSLVGD DTLEKGTGQA LDSHPTMKDP VNVTPSSTPE
860 870 880 890 900
SSPTDCLQNR AFDDELGLGG SCPPMRESDT RQENLKTKAL VSNSSLHWIP
910 920 930 940 950
IPSNDEVVKQ PKPESREHIP SVEPQVGEEW EKAAPTPPAL PGDLTAEEGL
960 970 980 990 1000
DPLDSLTSLW TVPSRGGSDS NGSYCQQVDI EKLKINGDSE ALSPHGESTD
1010 1020 1030 1040 1050
TASDFEGHLT EDSSEADTRE AAVTKGSSVD KDEKPNWNQS APLSKVNGDM
1060 1070 1080 1090 1100
RLVTRTDGMV APQSWVSRVC AVRQKIPDSL LLASTEYQPR AVCLSMPGSS
1110 1120 1130 1140 1150
VEATNPLVMQ LLQGSLPLEK VLPPAHDDSM SESPQVPLTK DQSHGSLRMG
1160 1170 1180 1190 1200
SLHGLGKNSG MVDGSSPSSL RALKEPLLPD SCETGTGLAR IEATQAPGAP
1210 1220 1230 1240 1250
QKNCKAVPSF DSLHPVTNPI TSSRKLEEMD SKEQFSSFSC EDQKEVRAMS
1260 1270 1280 1290 1300
QDSNSNAAPG KSPGDLTTSR TPRFSSPNVI SFGPEQTGRA LGDQSNVTGQ
1310 1320 1330 1340 1350
GKKLFGSGNV AATLQRPRPA DPMPLPAEIP PVFPSGKLGP STNSMSGGVQ
1360 1370 1380 1390 1400
TPREDWAPKP HAFVGSVKNE KTFVGGPLKA NAENRKATGH SPLELVGHLE
1410 1420 1430 1440 1450
GMPFVMDLPF WKLPREPGKG LSEPLEPSSL PSQLSIKQAF YGKLSKLQLS
1460 1470 1480 1490 1500
STSFNYSSSS PTFPKGLAGS VVQLSHKANF GASHSASLSL QMFTDSSTVE
1510 1520 1530 1540
SISLQCACSL KAMIMCQGCG AFCHDDCIGP SKLCVLCLVV R
Length:1,541
Mass (Da):165,432
Last modified:March 28, 2018 - v4
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i8FCE072F3295AA34
GO
Isoform 2 (identifier: Q8IXJ9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     433-479: AGVAKDAKSV...SSAAPDLEGP → SKLWCEPQCI...VPRLRCVLSR
     480-1541: Missing.

Show »
Length:479
Mass (Da):53,374
Checksum:i4A0734FEC5B6B35F
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 12 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q76L82Q76L82_HUMAN
Additional sex combs like 1 (Drosop...
ASXL1 ASXH1, hCG_38816
1,536Annotation 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>
A0A2R8Y5U1A0A2R8Y5U1_HUMAN
Polycomb group protein ASXL1
ASXL1
1,480Annotation 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>
A0A2R8Y627A0A2R8Y627_HUMAN
Polycomb group protein ASXL1
ASXL1
135Annotation 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>
A0A494C1R1A0A494C1R1_HUMAN
Polycomb group protein ASXL1
ASXL1
625Annotation 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>
Q498B9Q498B9_HUMAN
ASXL1 protein
ASXL1
85Annotation 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>
H0YJC9H0YJC9_HUMAN
Polycomb group protein ASXL1
ASXL1
75Annotation 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>
Q5JWS8Q5JWS8_HUMAN
Polycomb group protein ASXL1
ASXL1
81Annotation 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>
A0A087WWN0A0A087WWN0_HUMAN
Polycomb group protein ASXL1
ASXL1
57Annotation 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>
A0A2R8Y6V0A0A2R8Y6V0_HUMAN
Polycomb group protein ASXL1
ASXL1
78Annotation 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>
Q6P1M8Q6P1M8_HUMAN
ASXL1 protein
ASXL1
84Annotation score:

Annotation score:1 out of 5

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

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 conflicti454A → T in CAD27708 (PubMed:12657473).Curated1
Sequence conflicti880 – 882TRQ → ASE in CAB56029 (PubMed:17974005).Curated3
Sequence conflicti1102E → D in CAB55975 (PubMed:17974005).Curated1
Sequence conflicti1466G → A in AAH33284 (PubMed:15489334).Curated1
Sequence conflicti1470S → C in AAH33284 (PubMed:15489334).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_051602751V → I. Corresponds to variant dbSNP:rs6058693EnsemblClinVar.1
Natural variantiVAR_028157815P → L. Corresponds to variant dbSNP:rs6058694Ensembl.1
Natural variantiVAR_051603983L → R. Corresponds to variant dbSNP:rs34359205Ensembl.1
Natural variantiVAR_0281581325L → F. Corresponds to variant dbSNP:rs6057581EnsemblClinVar.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_007219433 – 479AGVAK…DLEGP → SKLWCEPQCITFLANVHQQH GGKHLAPVCVQPESHDHVPR LRCVLSR in isoform 2. 1 PublicationAdd BLAST47
Alternative sequenceiVSP_007220480 – 1541Missing in isoform 2. 1 PublicationAdd BLAST1062

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
AJ438952 mRNA Translation: CAD27708.1
AL121583 Genomic DNA No translation available.
AL034550 Genomic DNA No translation available.
KF495689 Genomic DNA No translation available.
BC033284 mRNA Translation: AAH33284.1
BC137278 mRNA Translation: AAI37279.1
BC137280 mRNA Translation: AAI37281.1
AB023195 mRNA Translation: BAA76822.2
AL117518 mRNA Translation: CAB55975.1
AL117647 mRNA Translation: CAB56029.2

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS13201.1 [Q8IXJ9-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
T17285
T17339

NCBI Reference Sequences

More...
RefSeqi
NP_056153.2, NM_015338.5 [Q8IXJ9-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000375687; ENSP00000364839; ENSG00000171456 [Q8IXJ9-1]
ENST00000613218; ENSP00000480487; ENSG00000171456 [Q8IXJ9-1]
ENST00000620121; ENSP00000481978; ENSG00000171456 [Q8IXJ9-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
171023

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:171023

UCSC genome browser

More...
UCSCi
uc061wei.1 human [Q8IXJ9-1]

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%5Freferences%5Fsection">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
AJ438952 mRNA Translation: CAD27708.1
AL121583 Genomic DNA No translation available.
AL034550 Genomic DNA No translation available.
KF495689 Genomic DNA No translation available.
BC033284 mRNA Translation: AAH33284.1
BC137278 mRNA Translation: AAI37279.1
BC137280 mRNA Translation: AAI37281.1
AB023195 mRNA Translation: BAA76822.2
AL117518 mRNA Translation: CAB55975.1
AL117647 mRNA Translation: CAB56029.2
CCDSiCCDS13201.1 [Q8IXJ9-1]
PIRiT17285
T17339
RefSeqiNP_056153.2, NM_015338.5 [Q8IXJ9-1]

3D structure databases

SMRiQ8IXJ9
ModBaseiSearch...

Protein-protein interaction databases

BioGridi128104, 32 interactors
ComplexPortaliCPX-414 PR-DUB complex
CORUMiQ8IXJ9
DIPiDIP-46910N
IntActiQ8IXJ9, 39 interactors
MINTiQ8IXJ9
STRINGi9606.ENSP00000364839

PTM databases

iPTMnetiQ8IXJ9
PhosphoSitePlusiQ8IXJ9

Polymorphism and mutation databases

BioMutaiASXL1
DMDMi317373477

Proteomic databases

EPDiQ8IXJ9
jPOSTiQ8IXJ9
MassIVEiQ8IXJ9
PaxDbiQ8IXJ9
PeptideAtlasiQ8IXJ9
PRIDEiQ8IXJ9
ProteomicsDBi71012 [Q8IXJ9-1]
71013 [Q8IXJ9-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
10384 100 antibodies

Genome annotation databases

EnsembliENST00000375687; ENSP00000364839; ENSG00000171456 [Q8IXJ9-1]
ENST00000613218; ENSP00000480487; ENSG00000171456 [Q8IXJ9-1]
ENST00000620121; ENSP00000481978; ENSG00000171456 [Q8IXJ9-1]
GeneIDi171023
KEGGihsa:171023
UCSCiuc061wei.1 human [Q8IXJ9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
171023
DisGeNETi171023

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ASXL1
GeneReviewsiASXL1
HGNCiHGNC:18318 ASXL1
HPAiENSG00000171456 Low tissue specificity
MalaCardsiASXL1
MIMi605039 phenotype
612990 gene
614286 phenotype
neXtProtiNX_Q8IXJ9
OpenTargetsiENSG00000171456
Orphaneti97297 Bohring-Opitz syndrome
98849 Systemic mastocytosis with associated hematologic neoplasm
PharmGKBiPA25078

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IGAP Eukaryota
ENOG410YF2J LUCA
GeneTreeiENSGT00520000055578
HOGENOMiCLU_247862_0_0_1
InParanoidiQ8IXJ9
KOiK11471
OMAiEESCPLQ
OrthoDBi53757at2759
PhylomeDBiQ8IXJ9
TreeFamiTF328464

Enzyme and pathway databases

ReactomeiR-HSA-5689603 UCH proteinases
SIGNORiQ8IXJ9

Miscellaneous databases

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

More...
ChiTaRSi
ASXL1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
ASXL1

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

More...
GenomeRNAii
171023
PharosiQ8IXJ9 Tbio

Protein Ontology

More...
PROi
PR:Q8IXJ9
RNActiQ8IXJ9 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000171456 Expressed in left lobe of thyroid gland and 226 other tissues
ExpressionAtlasiQ8IXJ9 baseline and differential
GenevisibleiQ8IXJ9 HS

Family and domain databases

InterProiView protein in InterPro
IPR026905 ASX-like_PHD
IPR024811 ASX/ASX-like
IPR028020 ASXH
IPR024815 ASXL1
IPR007759 HB1/Asxl_HTH
PANTHERiPTHR13578 PTHR13578, 1 hit
PTHR13578:SF19 PTHR13578:SF19, 1 hit
PfamiView protein in Pfam
PF13919 ASXH, 1 hit
PF05066 HARE-HTH, 1 hit
PF13922 PHD_3, 1 hit
PROSITEiView protein in PROSITE
PS51913 HTH_HARE, 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 nameiASXL1_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: Q8IXJ9
Secondary accession number(s): B2RP59
, Q5JWS9, Q8IYY7, Q9H466, Q9NQF8, Q9UFJ0, Q9UFP8, Q9Y2I4
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 23, 2003
Last sequence update: March 28, 2018
Last modified: April 22, 2020
This is version 162 of the entry and version 4 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

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. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
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