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Protein

Putative Polycomb group protein ASXL1

Gene

ASXL1

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

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). Acts as coactivator of RARA and RXRA through association with NCOA1. 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).By similarity2 Publications

Regions

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

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionChromatin regulator, Repressor
Biological processTranscription, Transcription regulation, Ubl conjugation pathway
LigandMetal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-5689603 UCH proteinases
SIGNORiQ8IXJ9

Names & Taxonomyi

Protein namesi
Recommended name:
Putative Polycomb group protein ASXL1
Alternative name(s):
Additional sex combs-like protein 1
Gene namesi
Name:ASXL1
Synonyms:KIAA0978
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000171456.16
HGNCiHGNC:18318 ASXL1
MIMi612990 gene
neXtProtiNX_Q8IXJ9

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

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.
See also OMIM:605039
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).
See also OMIM:614286

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi1108V → A: Abolishes interaction with RARA. 1 Publication1
Mutagenesisi1111L → A: Abolishes interaction with RARA. 1 Publication1

Keywords - Diseasei

Craniosynostosis

Organism-specific databases

DisGeNETi171023
MalaCardsiASXL1
MIMi605039 phenotype
614286 phenotype
OpenTargetsiENSG00000171456
Orphaneti97297 Bohring-Opitz syndrome
PharmGKBiPA25078

Polymorphism and mutation databases

BioMutaiASXL1
DMDMi317373477

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000593211 – 1541Putative Polycomb group protein ASXL1Add BLAST1541

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei501PhosphoserineCombined sources1
Modified residuei503PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ8IXJ9
PaxDbiQ8IXJ9
PeptideAtlasiQ8IXJ9
PRIDEiQ8IXJ9

PTM databases

iPTMnetiQ8IXJ9
PhosphoSitePlusiQ8IXJ9

Expressioni

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

BgeeiENSG00000171456
CleanExiHS_ASXL1
ExpressionAtlasiQ8IXJ9 baseline and differential
GenevisibleiQ8IXJ9 HS

Organism-specific databases

HPAiHPA064156

Interactioni

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

Binary interactionsi

Show more details

GO - Molecular functioni

Protein-protein interaction databases

BioGridi128104, 15 interactors
DIPiDIP-46910N
IntActiQ8IXJ9, 38 interactors
MINTiQ8IXJ9
STRINGi9606.ENSP00000364839

Structurei

3D structure databases

ProteinModelPortaliQ8IXJ9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni300 – 658Interaction with NCOA11 PublicationAdd BLAST359
Regioni1107 – 1112Required for interaction with RARA1 Publication6

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi160 – 164Nuclear localization signal 1Sequence analysis5
Motifi284 – 288LXXLL motif5
Motifi409 – 413Nuclear localization signal 2Sequence analysis5

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi2 – 9Poly-Lys8
Compositional biasi199 – 209Poly-SerAdd BLAST11
Compositional biasi641 – 684Gly-richAdd BLAST44
Compositional biasi1457 – 1460Poly-Ser4

Domaini

Contains one Leu-Xaa-Xaa-Leu-Leu (LXXLL) motif, which may be required for an association with nuclear receptors.

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

eggNOGiENOG410IGAP Eukaryota
ENOG410YF2J LUCA
GeneTreeiENSGT00520000055578
HOVERGENiHBG050598
InParanoidiQ8IXJ9
KOiK11471
OrthoDBiEOG091G0C66
PhylomeDBiQ8IXJ9
TreeFamiTF328464

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

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8IXJ9-1) [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
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
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.

Note: Derived from EST data. No experimental confirmation available.
Show »
Length:479
Mass (Da):53,374
Checksum:i4A0734FEC5B6B35F
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
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
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:
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]
UniGeneiHs.374043

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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiASXL1_HUMAN
AccessioniPrimary (citable) accession number: Q8IXJ9
Secondary accession number(s): B2RP59
, Q5JWS9, Q8IYY7, Q9H466, Q9NQF8, Q9UFJ0, Q9UFP8, Q9Y2I4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 23, 2003
Last sequence update: March 28, 2018
Last modified: May 23, 2018
This is version 147 of the entry and version 4 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
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Main funding by: National Institutes of Health