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Q8IXJ9

- ASXL1_HUMAN

UniProt

Q8IXJ9 - ASXL1_HUMAN

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
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    • History
      Entry version 114 (01 Oct 2014)
      Sequence version 3 (11 Jan 2011)
      Previous versions | rss
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    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. protein binding Source: IntAct
    5. retinoic acid receptor binding Source: UniProtKB
    6. transcription coactivator activity Source: UniProtKB
    7. 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

    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

    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

    ArrayExpressiQ8IXJ9.
    BgeeiQ8IXJ9.
    CleanExiHS_ASXL1.
    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.
    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

    MKDKQKKKKE RTWAEAARLV LENYSDAPMT PKQILQVIEA EGLKEMRSGT     50
    SPLACLNAML HSNSRGGEGL FYKLPGRISL FTLKKDALQW SRHPATVEGE 100
    EPEDTADVES CGSNEASTVS GENDVSLDET SSNASCSTES QSRPLSNPRD 150
    SYRASSQANK QKKKTGVMLP RVVLTPLKVN GAHVESASGF SGCHADGESG 200
    SPSSSSSGSL ALGSAAIRGQ AEVTQDPAPL LRGFRKPATG QMKRNRGEEI 250
    DFETPGSILV NTNLRALINS RTFHALPSHF QQQLLFLLPE VDRQVGTDGL 300
    LRLSSSALNN EFFTHAAQSW RERLADGEFT HEMQVRIRQE MEKEKKVEQW 350
    KEKFFEDYYG QKLGLTKEES LQQNVGQEEA EIKSGLCVPG ESVRIQRGPA 400
    TRQRDGHFKK RSRPDLRTRA RRNLYKKQES EQAGVAKDAK SVASDVPLYK 450
    DGEAKTDPAG LSSPHLPGTS SAAPDLEGPE FPVESVASRI QAEPDNLARA 500
    SASPDRIPSL PQETVDQEPK DQKRKSFEQA ASASFPEKKP RLEDRQSFRN 550
    TIESVHTEKP QPTKEEPKVP PIRIQLSRIK PPWVVKGQPT YQICPRIIPT 600
    TESSCRGWTG ARTLADIKAR ALQVRGARGH HCHREAATTA IGGGGGPGGG 650
    GGGATDEGGG RGSSSGDGGE ACGHPEPRGG PSTPGKCTSD LQRTQLLPPY 700
    PLNGEHTQAG TAMSRARRED LPSLRKEESC LLQRATVGLT DGLGDASQLP 750
    VAPTGDQPCQ ALPLLSSQTS VAERLVEQPQ LHPDVRTECE SGTTSWESDD 800
    EEQGPTVPAD NGPILSLVGD DTLEKGTGQA LDSHPTMKDP VNVTPSSTPE 850
    SSPTDCLQNR AFDDELGLGG SCPPMRESDT RQENLKTKAL VSNSSLHWIP 900
    IPSNDEVVKQ PKPESREHIP SVEPQVGEEW EKAAPTPPAL PGDLTAEEGL 950
    DPLDSLTSLW TVPSRGGSDS NGSYCQQVDI EKLKINGDSE ALSPHGESTD 1000
    TASDFEGHLT EDSSEADTRE AAVTKGSSVD KDEKPNWNQS APLSKVNGDM 1050
    RLVTRTDGMV APQSWVSRVC AVRQKIPDSL LLASTEYQPR AVCLSMPGSS 1100
    VEATNPLVMQ LLQGSLPLEK VLPPAHDDSM SESPQVPLTK DQSHGSLRMG 1150
    SLHGLGKNSG MVDGSSPSSL RALKEPLLPD SCETGTGLAR IEATQAPGAP 1200
    QKNCKAVPSF DSLHPVTNPI TSSRKLEEMD SKEQFSSFSC EDQKEVRAMS 1250
    QDSNSNAAPG KSPGDLTTSR TPRFSSPNVI SFGPEQTGRA LGDQSNVTGQ 1300
    GKKLFGSGNV AATLQRPRPA DPMPLPAEIP PVFPSGKLGP STNSMSGGVQ 1350
    TPREDWAPKP HAFVGSVKNE KTFVGGPLKA NAENRKATGH SPLELVGHLE 1400
    GMPFVMDLPF WKLPREPGKG LSEPLEPSSL PSQLSIKQAF YGKLSKLQLS 1450
    STSFNYSSSS PTFPKGLAGS VVQLSHKANF GASHSASLSL QMFTDSSTVE 1500
    SISLQCACSL KAMIMCQGCG AFCHDDCIGP SKLCVLCLVV R 1541
    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:
    EMBL
    GenBank
    DDBJ
    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. [Q8IXJ9-1]
    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:
    EMBL
    GenBank
    DDBJ
    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 . [Q8IXJ9-1 ]
    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.
    HOVERGENi HBG050598.
    InParanoidi Q8IXJ9.
    KOi K11471.
    OMAi SLKAMIM.
    PhylomeDBi Q8IXJ9.
    TreeFami TF328464.

    Miscellaneous databases

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

    Gene expression databases

    ArrayExpressi Q8IXJ9.
    Bgeei Q8IXJ9.
    CleanExi HS_ASXL1.
    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

    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: October 1, 2014
    This is version 114 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