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Entry version 117 (26 Feb 2020)
Sequence version 3 (26 Feb 2008)
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Protein

Putative Polycomb group protein ASXL3

Gene

ASXL3

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 transcript 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

Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. PcG proteins are not required to initiate repression, but to maintain it during later stages of development. They probably act via methylation of histones, rendering chromatin heritably changed in its expressibility (By similarity).By similarity

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 fingeri2210 – 2247PHD-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 functionRepressor
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

<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:
Putative Polycomb group protein ASXL3
Alternative name(s):
Additional sex combs-like protein 3
<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:ASXL3
Synonyms:KIAA1713
<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 18

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:29357 ASXL3

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
615115 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9C0F0

<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

Bainbridge-Ropers syndrome (BRPS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by psychomotor retardation, feeding problems, severe postnatal growth retardation in some patients, arched eyebrows, anteverted nares, and ulnar deviation of the hands.
Related information in OMIM

Organism-specific databases

DisGeNET

More...
DisGeNETi
80816

MalaCards human disease database

More...
MalaCardsi
ASXL3
MIMi615485 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000141431

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

More...
Orphaneti
352577 Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162377010

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9C0F0 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ASXL3

Domain mapping of disease mutations (DMDM)

More...
DMDMi
172046234

<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_00003206701 – 2248Putative Polycomb group protein ASXL3Add BLAST2248

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9C0F0

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9C0F0

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9C0F0

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

More...
PaxDbi
Q9C0F0

PeptideAtlas

More...
PeptideAtlasi
Q9C0F0

PRoteomics IDEntifications database

More...
PRIDEi
Q9C0F0

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
80026 [Q9C0F0-1]
80027 [Q9C0F0-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9C0F0

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

More...
PhosphoSitePlusi
Q9C0F0

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

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

Expressed in pancreatic islets, testis, neuroblastoma, head and neck tumor.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000141431 Expressed in frontal cortex and 144 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9C0F0 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9C0F0 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA039539
HPA040034

<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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
123314, 4 interactors

Protein interaction database and analysis system

More...
IntActi
Q9C0F0, 3 interactors

Molecular INTeraction database

More...
MINTi
Q9C0F0

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000269197

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9C0F0 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

More...
SMRi
Q9C0F0

Database of comparative protein structure models

More...
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>Domaini10 – 80HARE-HTHSequence analysisAdd BLAST71

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 biasi609 – 787Ser-richAdd BLAST179
Compositional biasi1051 – 1080Ala-richAdd BLAST30
Compositional biasi1199 – 1357Ser-richAdd BLAST159
Compositional biasi2017 – 2058Pro-richAdd BLAST42

<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 fingeri2210 – 2247PHD-type; atypicalAdd BLAST38

Keywords - Domaini

Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IIF3 Eukaryota
ENOG4111F3G LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00520000055578

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_001823_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9C0F0

KEGG Orthology (KO)

More...
KOi
K11471

Identification of Orthologs from Complete Genome Data

More...
OMAi
MFTGNML

Database of Orthologous Groups

More...
OrthoDBi
53757at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9C0F0

TreeFam database of animal gene trees

More...
TreeFami
TF328464

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR026905 ASX-like_PHD
IPR024811 ASX/ASX-like
IPR028020 ASXH
IPR024818 ASXL3
IPR007759 HB1/Asxl_HTH

The PANTHER Classification System

More...
PANTHERi
PTHR13578 PTHR13578, 1 hit
PTHR13578:SF18 PTHR13578:SF18, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF13919 ASXH, 1 hit
PF05066 HARE-HTH, 1 hit
PF13922 PHD_3, 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.<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 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9C0F0-1) [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
MKDKRKKKDR TWAEAARLAL EKHPNSPMTA KQILEVIQKE GLKETSGTSP
60 70 80 90 100
LACLNAMLHT NTRIGDGTFF KIPGKSGLYA LKKEESSCPA DGTLDLVCES
110 120 130 140 150
ELDGTDMAEA NAHGEENGVC SKQVTDEASS TRDSSLTNTA VQSKLVSSFQ
160 170 180 190 200
QHTKKALKQA LRQQQKRRNG VSMMVNKTVP RVVLTPLKVS DEQSDSPSGS
210 220 230 240 250
ESKNGEADSS DKEMKHGQKS PTGKQTSQHL KRLKKSGLGH LKWTKAEDID
260 270 280 290 300
IETPGSILVN TNLRALINKH TFASLPQHFQ QYLLLLLPEV DRQMGSDGIL
310 320 330 340 350
RLSTSALNNE FFAYAAQGWK QRLAEGEFTP EMQLRIRQEI EKEKKTEPWK
360 370 380 390 400
EKFFERFYGE KLGMSREESV KLTTGPNNAG AQSSSSCGTS GLPVSAQTAL
410 420 430 440 450
AEQQPKSMKS PASPEPGFCA TLCPMVEIPP KDIMAELESE DILIPEESVI
460 470 480 490 500
QEEIAEEVET SICECQDENH KTIPEFSEEA ESLTNSHEEP QIAPPEDNLE
510 520 530 540 550
SCVMMNDVLE TLPHIEVKIE GKSESPQEEM TVVIDQLEVC DSLIPSTSSM
560 570 580 590 600
THVSDTEHKE SETAVETSTP KIKTGSSSLE GQFPNEGIAI DMELQSDPEE
610 620 630 640 650
QLSENACISE TSFSSESPEG ACTSLPSPGG ETQSTSEESC TPASLETTFC
660 670 680 690 700
SEVSSTENTD KYNQRNSTDE NFHASLMSEI SPISTSPEIS EASLMSNLPL
710 720 730 740 750
TSEASPVSNL PLTSETSPMS DLPLTSETSS VSSMLLTSET TFVSSLPLPS
760 770 780 790 800
ETSPISNSSI NERMAHQQRK SPSVSEEPLS PQKDESSATA KPLGENLTSQ
810 820 830 840 850
QKNLSNTPEP IIMSSSSIAP EAFPSEDLHN KTLSQQTCKS HVDTEKPYPA
860 870 880 890 900
SIPELASTEM IKVKNHSVLQ RTEKKVLPSP LELSVFSEGT DNKGNELPSA
910 920 930 940 950
KLQDKQYISS VDKAPFSEGS RNKTHKQGST QSRLETSHTS KSSEPSKSPD
960 970 980 990 1000
GIRNESRDSE ISKRKTAEQH SFGICKEKRA RIEDDQSTRN ISSSSPPEKE
1010 1020 1030 1040 1050
QPPREEPRVP PLKIQLSKIG PPFIIKSQPV SKPESRASTS TSVSGGRNTG
1060 1070 1080 1090 1100
ARTLADIKAR AQQARAQREA AAAAAVAAAA SIVSGAMGSP GEGGKTRTLA
1110 1120 1130 1140 1150
HIKEQTKAKL FAKHQARAHL FQTSKETRLP PPLSSKEGPP NLEVSSTPET
1160 1170 1180 1190 1200
KMEGSTGVII VNPNCRSPSN KSAHLRETTT VLQQSLNPSK LPETATDLSV
1210 1220 1230 1240 1250
HSSDENIPVS HLSEKIVSST SSENSSVPML FNKNSVPVSV CSTAISGAIK
1260 1270 1280 1290 1300
EHPFVSSVDK SSVLMSVDSA NTTISACNIS MLKTIQGTDT PCIAIIPKCI
1310 1320 1330 1340 1350
ESTPISATTE GSSISSSMDD KQLLISSSSA SNLVSTQYTS VPTPSIGNNL
1360 1370 1380 1390 1400
PNLSTSSVLI PPMGINNRFP SEKIAIPGSE EQATVSMGTT VRAALSCSDS
1410 1420 1430 1440 1450
VAVTDSLVAH PTVAMFTGNM LTINSYDSPP KLSAESLDKN SGPRNRADNS
1460 1470 1480 1490 1500
GKPQQPPGGF APAAINRSIP CKVIVDHSTT LTSSLSLTVS VESSEASLDL
1510 1520 1530 1540 1550
QGRPVRTEAS VQPVACPQVS VISRPEPVAN EGIDHSSTFI AASAAKQDSK
1560 1570 1580 1590 1600
TLPATCTSLR ELPLVPDKLN EPTAPSHNFA EQARGPAPFK SEADTTCSNQ
1610 1620 1630 1640 1650
YNPSNRICWN DDGMRSTGQP LVTHSGSSKQ KEYLEQSCPK AIKTEHANYL
1660 1670 1680 1690 1700
NVSELHPRNL VTNVALPVKS ELHEADKGFR MDTEDFPGPE LPPPAAEGAS
1710 1720 1730 1740 1750
SVQQTQNMKA STSSPMEEAI SLATDALKRV PGAGSSGCRL SSVEANNPLV
1760 1770 1780 1790 1800
TQLLQGNLPL EKVLPQPRLG AKLEINRLPL PLQTTSVGKT APERNVEIPP
1810 1820 1830 1840 1850
SSPNPDGKGY LAGTLAPLQM RKRENHPKKR VARTVGEHTQ VKCEPGKLLV
1860 1870 1880 1890 1900
EPDVKGVPCV ISSGISQLGH SQPFKQEWLN KHSMQNRIVH SPEVKQQKRL
1910 1920 1930 1940 1950
LPSCSFQQNL FHVDKNGGFH TDAGTSHRQQ FYQMPVAARG PIPTAALLQA
1960 1970 1980 1990 2000
SSKTPVGCNA FAFNRHLEQK GLGEVSLSSA PHQLRLANML SPNMPMKEGD
2010 2020 2030 2040 2050
EVGGTAHTMP NKALVHPPPP PPPPPPPPLA LPPPPPPPPP LPPPLPNAEV
2060 2070 2080 2090 2100
PSDQKQPPVT METTKRLSWP QSTGICSNIK SEPLSFEEGL SSSCELGMKQ
2110 2120 2130 2140 2150
VSYDQNEMKE QLKAFALKSA DFSSYLLSEP QKPFTQLAAQ KMQVQQQQQL
2160 2170 2180 2190 2200
CGNYPTIHFG STSFKRAASA IEKSIGILGS GSNPATGLSG QNAQMPVQNF
2210 2220 2230 2240
ADSSNADELE LKCSCRLKAM IVCKGCGAFC HDDCIGPSKL CVACLVVR
Length:2,248
Mass (Da):241,919
Last modified:February 26, 2008 - v3
<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:iE8BAC62B817F904D
GO
Isoform 2 (identifier: Q9C0F0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     294-317: MGSDGILRLSTSALNNEFFAYAAQ → SRNEPFLQEAMVPISGGCHEIKMS
     318-2248: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.Curated
Show »
Length:317
Mass (Da):34,901
Checksum:iE0DF2F4307926A97
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7EJ76K7EJ76_HUMAN
Putative Polycomb group protein ASX...
ASXL3
318Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y461A0A2R8Y461_HUMAN
Putative Polycomb group protein ASX...
ASXL3
1,191Annotation 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>
K7ELG8K7ELG8_HUMAN
Putative Polycomb group protein ASX...
ASXL3
61Annotation 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>
K7EMU6K7EMU6_HUMAN
Putative Polycomb group protein ASX...
ASXL3
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>

<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 BAB71186 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAD18599 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated
The sequence CAB61377 differs from that shown. Contaminating sequence. Potential poly-A sequence.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 conflicti46S → RN in BAD18599 (PubMed:14702039).Curated1
Sequence conflicti49S → P in BAD18599 (PubMed:14702039).Curated1
Sequence conflicti1079A → V in CAB61377 (PubMed:17974005).Curated1
Sequence conflicti1632E → K in BAB71186 (PubMed:14702039).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_039267954N → S2 PublicationsCorresponds to variant dbSNP:rs2282632Ensembl.1
Natural variantiVAR_0823101109 – 2248Missing Found in a patient with cohesinopathy; unknown pathological significance. 1 PublicationAdd BLAST1140
Natural variantiVAR_0392681415M → R. Corresponds to variant dbSNP:rs16964887Ensembl.1
Natural variantiVAR_0392691652V → M. Corresponds to variant dbSNP:rs17746949Ensembl.1
Natural variantiVAR_0392701708M → V2 PublicationsCorresponds to variant dbSNP:rs7232237Ensembl.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_042433294 – 317MGSDG…AYAAQ → SRNEPFLQEAMVPISGGCHE IKMS in isoform 2. 1 PublicationAdd BLAST24
Alternative sequenceiVSP_042434318 – 2248Missing in isoform 2. 1 PublicationAdd BLAST1931

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AC023192 Genomic DNA No translation available.
AC090989 Genomic DNA No translation available.
AC010798 Genomic DNA No translation available.
AK056450 mRNA Translation: BAB71186.1 Different initiation.
AK131454 mRNA Translation: BAD18599.1 Sequence problems.
AB051500 mRNA Translation: BAB21804.2
AL133050 mRNA Translation: CAB61377.1 Sequence problems.

The Consensus CDS (CCDS) project

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CCDSi
CCDS45847.1 [Q9C0F0-1]

Protein sequence database of the Protein Information Resource

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PIRi
T42653

NCBI Reference Sequences

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RefSeqi
NP_085135.1, NM_030632.2 [Q9C0F0-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000269197; ENSP00000269197; ENSG00000141431 [Q9C0F0-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
80816

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:80816

UCSC genome browser

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UCSCi
uc010dmg.2 human [Q9C0F0-1]

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
AC023192 Genomic DNA No translation available.
AC090989 Genomic DNA No translation available.
AC010798 Genomic DNA No translation available.
AK056450 mRNA Translation: BAB71186.1 Different initiation.
AK131454 mRNA Translation: BAD18599.1 Sequence problems.
AB051500 mRNA Translation: BAB21804.2
AL133050 mRNA Translation: CAB61377.1 Sequence problems.
CCDSiCCDS45847.1 [Q9C0F0-1]
PIRiT42653
RefSeqiNP_085135.1, NM_030632.2 [Q9C0F0-1]

3D structure databases

SMRiQ9C0F0
ModBaseiSearch...

Protein-protein interaction databases

BioGridi123314, 4 interactors
IntActiQ9C0F0, 3 interactors
MINTiQ9C0F0
STRINGi9606.ENSP00000269197

PTM databases

iPTMnetiQ9C0F0
PhosphoSitePlusiQ9C0F0

Polymorphism and mutation databases

BioMutaiASXL3
DMDMi172046234

Proteomic databases

EPDiQ9C0F0
jPOSTiQ9C0F0
MassIVEiQ9C0F0
PaxDbiQ9C0F0
PeptideAtlasiQ9C0F0
PRIDEiQ9C0F0
ProteomicsDBi80026 [Q9C0F0-1]
80027 [Q9C0F0-2]

Genome annotation databases

EnsembliENST00000269197; ENSP00000269197; ENSG00000141431 [Q9C0F0-1]
GeneIDi80816
KEGGihsa:80816
UCSCiuc010dmg.2 human [Q9C0F0-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
80816
DisGeNETi80816

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ASXL3
HGNCiHGNC:29357 ASXL3
HPAiHPA039539
HPA040034
MalaCardsiASXL3
MIMi615115 gene
615485 phenotype
neXtProtiNX_Q9C0F0
OpenTargetsiENSG00000141431
Orphaneti352577 Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
PharmGKBiPA162377010

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IIF3 Eukaryota
ENOG4111F3G LUCA
GeneTreeiENSGT00520000055578
HOGENOMiCLU_001823_0_0_1
InParanoidiQ9C0F0
KOiK11471
OMAiMFTGNML
OrthoDBi53757at2759
PhylomeDBiQ9C0F0
TreeFamiTF328464

Miscellaneous databases

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

More...
ChiTaRSi
ASXL3 human

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

More...
GenomeRNAii
80816
PharosiQ9C0F0 Tbio

Protein Ontology

More...
PROi
PR:Q9C0F0
RNActiQ9C0F0 protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000141431 Expressed in frontal cortex and 144 other tissues
ExpressionAtlasiQ9C0F0 baseline and differential
GenevisibleiQ9C0F0 HS

Family and domain databases

InterProiView protein in InterPro
IPR026905 ASX-like_PHD
IPR024811 ASX/ASX-like
IPR028020 ASXH
IPR024818 ASXL3
IPR007759 HB1/Asxl_HTH
PANTHERiPTHR13578 PTHR13578, 1 hit
PTHR13578:SF18 PTHR13578:SF18, 1 hit
PfamiView protein in Pfam
PF13919 ASXH, 1 hit
PF05066 HARE-HTH, 1 hit
PF13922 PHD_3, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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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 nameiASXL3_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: Q9C0F0
Secondary accession number(s): Q6ZMX6, Q96MU3, Q9UFC5
<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: February 26, 2008
Last sequence update: February 26, 2008
Last modified: February 26, 2020
This is version 117 of the entry and version 3 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 chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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