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Q8IXJ9

- ASXL1_HUMAN

UniProt

Q8IXJ9 - ASXL1_HUMAN

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Protein

Putative Polycomb group protein ASXL1

Gene

ASXL1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- 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 through recruitment of KDM1A and CBX5 to target genes in a cell-type specific manner; the function seems to involve differential recruitment of methylated histone H3 to respective promoters. 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)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri1503 – 154038PHD-type; atypicalAdd
BLAST

GO - Molecular functioni

  1. DNA binding Source: InterPro
  2. metal ion binding Source: UniProtKB-KW
  3. peroxisome proliferator activated receptor binding Source: UniProtKB
  4. retinoic acid receptor binding Source: UniProtKB
  5. transcription coactivator activity Source: UniProtKB
  6. transcription corepressor activity Source: UniProtKB

GO - Biological processi

  1. bone development Source: Ensembl
  2. monoubiquitinated histone H2A deubiquitination Source: UniProtKB
  3. negative regulation of fat cell differentiation Source: UniProtKB
  4. negative regulation of peroxisome proliferator activated receptor signaling pathway Source: UniProtKB
  5. negative regulation of retinoic acid receptor signaling pathway Source: UniProtKB
  6. negative regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  7. positive regulation of retinoic acid receptor signaling pathway Source: UniProtKB
  8. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  9. response to retinoic acid Source: UniProtKB
  10. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Chromatin regulator, Repressor

Keywords - Biological processi

Transcription, Transcription regulation, Ubl conjugation pathway

Keywords - Ligandi

Metal-binding, Zinc

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
ProteomesiUP000005640: Chromosome 20

Organism-specific databases

HGNCiHGNC:18318. ASXL1.

Subcellular locationi

Nucleus By similarity

GO - Cellular componenti

  1. extracellular vesicular exosome Source: UniProt
  2. nuclear chromatin Source: UniProtKB
  3. PR-DUB complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Bohring-Opitz syndrome (BOPS) [MIM:605039]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Myelodysplastic syndrome (MDS) [MIM:614286]: A 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).2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi1108 – 11081V → A: Abolishes interaction with RARA. 1 Publication
Mutagenesisi1111 – 11111L → A: Abolishes interaction with RARA. 1 Publication

Keywords - Diseasei

Craniosynostosis

Organism-specific databases

MIMi605039. phenotype.
614286. phenotype.
Orphaneti97297. Bohring-Opitz syndrome.
PharmGKBiPA25078.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 15411541Putative Polycomb group protein ASXL1PRO_0000059321Add
BLAST

Proteomic databases

MaxQBiQ8IXJ9.
PaxDbiQ8IXJ9.
PRIDEiQ8IXJ9.

PTM databases

PhosphoSiteiQ8IXJ9.

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

BgeeiQ8IXJ9.
CleanExiHS_ASXL1.
ExpressionAtlasiQ8IXJ9. baseline and differential.
GenevestigatoriQ8IXJ9.

Interactioni

Subunit structurei

Component of the PR-DUB complex, at least composed of BAP1 and ASXL1. Interacts with RARA, RXRA, NCOA1, KDM1A and CBX5. Interacts with PPARA, PPARG, CBX1 and CBX3 (By similarity).By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
AKT1P317492EBI-1646500,EBI-296087
BAP1Q925604EBI-1646500,EBI-1791447
CBX5P459732EBI-1646500,EBI-78219
EEDO755305EBI-1646500,EBI-923794
ESR1P033722EBI-1646500,EBI-78473
EZH2Q159106EBI-1646500,EBI-530054
KDM1AO603412EBI-1646500,EBI-710124
RxraP287002EBI-1646500,EBI-346715From a different organism.
THRBP683062EBI-1646500,EBI-5743841From a different organism.

Protein-protein interaction databases

BioGridi128104. 13 interactions.
DIPiDIP-46910N.
IntActiQ8IXJ9. 23 interactions.
MINTiMINT-7034503.

Structurei

3D structure databases

ProteinModelPortaliQ8IXJ9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni170 – 1745Required for interaction with CBX5By similarity
Regioni175 – 370196Interaction with KDM1ABy similarityAdd
BLAST
Regioni300 – 658359Interaction with NCOA1By similarityAdd
BLAST
Regioni1107 – 11126Required for interaction with RARA

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi160 – 1645Nuclear localization signal 1Sequence Analysis
Motifi284 – 2885LXXLL motif
Motifi409 – 4135Nuclear localization signal 2Sequence Analysis

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi2 – 98Poly-Lys
Compositional biasi199 – 20911Poly-SerAdd
BLAST
Compositional biasi641 – 68444Gly-richAdd
BLAST
Compositional biasi1457 – 14604Poly-Ser

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
Contains 1 PHD-type zinc finger.Curated

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri1503 – 154038PHD-type; atypicalAdd
BLAST

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiNOG81527.
GeneTreeiENSGT00520000055578.
HOVERGENiHBG050598.
InParanoidiQ8IXJ9.
KOiK11471.
OMAiSLKAMIM.
PhylomeDBiQ8IXJ9.
TreeFamiTF328464.

Family and domain databases

InterProiIPR026905. ASX-like_PHD.
IPR024811. ASX/ASX-like.
IPR028020. ASXH.
IPR024815. ASXL1.
IPR007759. DNA-dir_RNA_pol_delta/Asxl.
[Graphical view]
PANTHERiPTHR13578. PTHR13578. 1 hit.
PTHR13578:SF19. PTHR13578:SF19. 1 hit.
PfamiPF13919. ASXH. 1 hit.
PF05066. HARE-HTH. 1 hit.
PF13922. PHD_3. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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 NGPILSLVGD 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):165,448
Last modified:January 11, 2011 - v3
Checksum:iB4EE3FACEBFD6865
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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti454 – 4541A → T in CAD27708. (PubMed:12657473)Curated
Sequence conflicti880 – 8823TRQ → ASE in CAB56029. (PubMed:17974005)Curated
Sequence conflicti1102 – 11021E → D in CAB55975. (PubMed:17974005)Curated
Sequence conflicti1466 – 14661G → A in AAH33284. (PubMed:15489334)Curated
Sequence conflicti1470 – 14701S → C in AAH33284. (PubMed:15489334)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti751 – 7511V → I.
Corresponds to variant rs6058693 [ dbSNP | Ensembl ].
VAR_051602
Natural varianti815 – 8151L → P.4 Publications
Corresponds to variant rs6058694 [ dbSNP | Ensembl ].
VAR_028157
Natural varianti983 – 9831L → R.
Corresponds to variant rs34359205 [ dbSNP | Ensembl ].
VAR_051603
Natural varianti1325 – 13251L → F.
Corresponds to variant rs6057581 [ dbSNP | Ensembl ].
VAR_028158

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei433 – 47947AGVAK…DLEGP → SKLWCEPQCITFLANVHQQH GGKHLAPVCVQPESHDHVPR LRCVLSR in isoform 2. 1 PublicationVSP_007219Add
BLAST
Alternative sequencei480 – 15411062Missing in isoform 2. 1 PublicationVSP_007220Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ438952 mRNA. Translation: CAD27708.1.
AL121583, AL034550 Genomic DNA. Translation: CAI40414.1.
AL034550, AL121583 Genomic DNA. Translation: CAI42259.1.
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.
UniGeneiHs.374043.

Genome annotation databases

EnsembliENST00000375687; ENSP00000364839; ENSG00000171456.
ENST00000613218; ENSP00000480487; ENSG00000171456.
ENST00000620121; ENSP00000481978; ENSG00000171456.
GeneIDi171023.
KEGGihsa:171023.
UCSCiuc002wxs.3. human. [Q8IXJ9-1]

Polymorphism databases

DMDMi317373477.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

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 , AL034550 Genomic DNA. Translation: CAI40414.1 .
AL034550 , AL121583 Genomic DNA. Translation: CAI42259.1 .
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 .
CCDSi CCDS13201.1. [Q8IXJ9-1 ]
PIRi T17285.
T17339.
RefSeqi NP_056153.2. NM_015338.5.
UniGenei Hs.374043.

3D structure databases

ProteinModelPortali Q8IXJ9.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 128104. 13 interactions.
DIPi DIP-46910N.
IntActi Q8IXJ9. 23 interactions.
MINTi MINT-7034503.

PTM databases

PhosphoSitei Q8IXJ9.

Polymorphism databases

DMDMi 317373477.

Proteomic databases

MaxQBi Q8IXJ9.
PaxDbi Q8IXJ9.
PRIDEi Q8IXJ9.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000375687 ; ENSP00000364839 ; ENSG00000171456 .
ENST00000613218 ; ENSP00000480487 ; ENSG00000171456 .
ENST00000620121 ; ENSP00000481978 ; ENSG00000171456 .
GeneIDi 171023.
KEGGi hsa:171023.
UCSCi uc002wxs.3. human. [Q8IXJ9-1 ]

Organism-specific databases

CTDi 171023.
GeneCardsi GC20P030946.
HGNCi HGNC:18318. ASXL1.
MIMi 605039. phenotype.
612990. gene.
614286. phenotype.
neXtProti NX_Q8IXJ9.
Orphaneti 97297. Bohring-Opitz syndrome.
PharmGKBi PA25078.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG81527.
GeneTreei ENSGT00520000055578.
HOVERGENi HBG050598.
InParanoidi Q8IXJ9.
KOi K11471.
OMAi SLKAMIM.
PhylomeDBi Q8IXJ9.
TreeFami TF328464.

Miscellaneous databases

ChiTaRSi ASXL1. human.
GeneWikii ASXL1.
GenomeRNAii 171023.
NextBioi 89192.
PROi Q8IXJ9.
SOURCEi Search...

Gene expression databases

Bgeei Q8IXJ9.
CleanExi HS_ASXL1.
ExpressionAtlasi Q8IXJ9. baseline and differential.
Genevestigatori Q8IXJ9.

Family and domain databases

InterProi IPR026905. ASX-like_PHD.
IPR024811. ASX/ASX-like.
IPR028020. ASXH.
IPR024815. ASXL1.
IPR007759. DNA-dir_RNA_pol_delta/Asxl.
[Graphical view ]
PANTHERi PTHR13578. PTHR13578. 1 hit.
PTHR13578:SF19. PTHR13578:SF19. 1 hit.
Pfami PF13919. ASXH. 1 hit.
PF05066. HARE-HTH. 1 hit.
PF13922. PHD_3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "A human homolog of Additional sex combs, additional sex combs-like 1, maps to chromosome 20q11."
    Fisher C.L., Berger J., Randazzo F., Brock H.W.
    Gene 306:115-126(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), TISSUE SPECIFICITY, VARIANT PRO-815.
  2. "The DNA sequence and comparative analysis of human chromosome 20."
    Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E.
    , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
    Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT PRO-815.
    Tissue: Prostate.
  4. "Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
    DNA Res. 6:63-70(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 174-1541, TISSUE SPECIFICITY, VARIANT PRO-815.
    Tissue: Brain.
  5. "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
    Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
    DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: SEQUENCE REVISION.
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 201-1541 (ISOFORM 1), VARIANT PRO-815.
    Tissue: Testis.
  7. "Additional sex comb-like 1 (ASXL1), in cooperation with SRC-1, acts as a ligand-dependent coactivator for retinoic acid receptor."
    Cho Y.S., Kim E.J., Park U.H., Sin H.S., Um S.J.
    J. Biol. Chem. 281:17588-17598(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH RARA; RXRA AND NCOA1, MUTAGENESIS OF VAL-1108 AND LEU-1111.
  8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  9. Cited for: INVOLVEMENT IN MDS.
  10. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  11. "ASXL1 represses retinoic acid receptor-mediated transcription through associating with HP1 and LSD1."
    Lee S.W., Cho Y.S., Na J.M., Park U.H., Kang M., Kim E.J., Um S.J.
    J. Biol. Chem. 285:18-29(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH KDM1A AND CBX5.
  12. Cited for: INVOLVEMENT IN MDS.
  13. "Histone H2A deubiquitinase activity of the Polycomb repressive complex PR-DUB."
    Scheuermann J.C., de Ayala Alonso A.G., Oktaba K., Ly-Hartig N., McGinty R.K., Fraterman S., Wilm M., Muir T.W., Muller J.
    Nature 465:243-247(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, IDENTIFICATION IN THE PR-DUB COMPLEX, INTERACTION WITH BAP1.
  14. Cited for: INVOLVEMENT IN BOPS.

Entry informationi

Entry nameiASXL1_HUMAN
AccessioniPrimary (citable) accession number: Q8IXJ9
Secondary accession number(s): B2RP59
, Q5JWS9, Q8IYY7, Q9H466, Q9NQF8, Q9UFJ0, Q9UFP8, Q9Y2I4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 23, 2003
Last sequence update: January 11, 2011
Last modified: November 26, 2014
This is version 116 of the entry and version 3 of the sequence. [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. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3