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Protein

Putative Polycomb group protein ASXL3

Gene

ASXL3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

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
Zinc fingeri2210 – 2247PHD-type; atypicalAdd BLAST38

GO - Molecular functioni

  • chromatin binding Source: GO_Central
  • DNA binding Source: InterPro
  • metal ion binding Source: UniProtKB-KW
  • peroxisome proliferator activated receptor binding Source: GO_Central

GO - Biological processi

Keywordsi

Molecular functionRepressor
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Putative Polycomb group protein ASXL3
Alternative name(s):
Additional sex combs-like protein 3
Gene namesi
Name:ASXL3
Synonyms:KIAA1713
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

EuPathDBiHostDB:ENSG00000141431.9
HGNCiHGNC:29357 ASXL3
MIMi615115 gene
neXtProtiNX_Q9C0F0

Subcellular locationi

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

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

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.
See also OMIM:615485

Organism-specific databases

DisGeNETi80816
MalaCardsiASXL3
MIMi615485 phenotype
OpenTargetsiENSG00000141431
Orphaneti352577 Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
PharmGKBiPA162377010

Polymorphism and mutation databases

BioMutaiASXL3
DMDMi172046234

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003206701 – 2248Putative Polycomb group protein ASXL3Add BLAST2248

Proteomic databases

EPDiQ9C0F0
PaxDbiQ9C0F0
PeptideAtlasiQ9C0F0
PRIDEiQ9C0F0
ProteomicsDBi80026
80027 [Q9C0F0-2]

PTM databases

iPTMnetiQ9C0F0
PhosphoSitePlusiQ9C0F0

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000141431 Expressed in 145 organ(s), highest expression level in frontal cortex
CleanExiHS_ASXL3
ExpressionAtlasiQ9C0F0 baseline and differential
GenevisibleiQ9C0F0 HS

Organism-specific databases

HPAiHPA039539
HPA040034

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi123314, 2 interactors
STRINGi9606.ENSP00000269197

Structurei

3D structure databases

ProteinModelPortaliQ9C0F0
SMRiQ9C0F0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi609 – 787Ser-richAdd BLAST179
Compositional biasi1051 – 1080Ala-richAdd BLAST30
Compositional biasi1199 – 1357Ser-richAdd BLAST159
Compositional biasi2017 – 2058Pro-richAdd BLAST42

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

eggNOGiENOG410IIF3 Eukaryota
ENOG4111F3G LUCA
GeneTreeiENSGT00520000055578
HOGENOMiHOG000034113
HOVERGENiHBG100451
InParanoidiQ9C0F0
KOiK11471
OMAiDKGFRMD
OrthoDBiEOG091G0C66
PhylomeDBiQ9C0F0
TreeFamiTF328464

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

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 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 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
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
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: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:317
Mass (Da):34,901
Checksum:iE0DF2F4307926A97
GO

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:
K7ELG8K7ELG8_HUMAN
Putative Polycomb group protein ASX...
ASXL3
61Annotation score:
K7EMU6K7EMU6_HUMAN
Putative Polycomb group protein ASX...
ASXL3
85Annotation score:
A0A2R8Y461A0A2R8Y461_HUMAN
Putative Polycomb group protein ASX...
ASXL3
1,191Annotation score:

Sequence cautioni

The sequence BAB71186 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.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
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
Natural variantiVAR_039267954N → S2 PublicationsCorresponds to variant dbSNP:rs2282632Ensembl.1
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
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:
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]
UniGeneiHs.464876

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

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]
UniGeneiHs.464876

3D structure databases

ProteinModelPortaliQ9C0F0
SMRiQ9C0F0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123314, 2 interactors
STRINGi9606.ENSP00000269197

PTM databases

iPTMnetiQ9C0F0
PhosphoSitePlusiQ9C0F0

Polymorphism and mutation databases

BioMutaiASXL3
DMDMi172046234

Proteomic databases

EPDiQ9C0F0
PaxDbiQ9C0F0
PeptideAtlasiQ9C0F0
PRIDEiQ9C0F0
ProteomicsDBi80026
80027 [Q9C0F0-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi80816
DisGeNETi80816
EuPathDBiHostDB:ENSG00000141431.9
GeneCardsiASXL3
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
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IIF3 Eukaryota
ENOG4111F3G LUCA
GeneTreeiENSGT00520000055578
HOGENOMiHOG000034113
HOVERGENiHBG100451
InParanoidiQ9C0F0
KOiK11471
OMAiDKGFRMD
OrthoDBiEOG091G0C66
PhylomeDBiQ9C0F0
TreeFamiTF328464

Miscellaneous databases

ChiTaRSiASXL3 human
GenomeRNAii80816
PROiPR:Q9C0F0
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000141431 Expressed in 145 organ(s), highest expression level in frontal cortex
CleanExiHS_ASXL3
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
ProtoNetiSearch...

Entry informationi

Entry nameiASXL3_HUMAN
AccessioniPrimary (citable) accession number: Q9C0F0
Secondary accession number(s): Q6ZMX6, Q96MU3, Q9UFC5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: February 26, 2008
Last modified: November 7, 2018
This is version 108 of the entry and version 3 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
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