Seroatlas · Human Serome Atlas

ASXL1

Polycomb group protein ASXL1

Also known as: ASXL1_HUMAN, KIAA0978

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q8IXJ9
Gene: ASXL1
Ensembl: ENSG00000171456
Chromosome: 20
Canonical length: 1541 aa
Protein class: Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Nucleoli

OverviewNCBI Gene

This gene is similar to the Drosophila additional sex combs gene, which encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci. The protein is thought to disrupt chromatin in localized areas, enhancing transcription of certain genes while repressing the transcription of other genes. The protein encoded by this gene functions as a ligand-dependent co-activator for retinoic acid receptor in cooperation with nuclear receptor coactivator 1. Mutations in this gene are associated with myelodysplastic syndromes and chronic myelomonocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

Canonical amino-acid sequenceUniProt

1541 residues, UniProt reviewed canonical sequence.

>Q8IXJ9|ASXL1
     1  MKDKQKKKKE RTWAEAARLV LENYSDAPMT PKQILQVIEA EGLKEMRSGT SPLACLNAML
    61  HSNSRGGEGL FYKLPGRISL FTLKKDALQW SRHPATVEGE EPEDTADVES CGSNEASTVS
   121  GENDVSLDET SSNASCSTES QSRPLSNPRD SYRASSQANK QKKKTGVMLP RVVLTPLKVN
   181  GAHVESASGF SGCHADGESG SPSSSSSGSL ALGSAAIRGQ AEVTQDPAPL LRGFRKPATG
   241  QMKRNRGEEI DFETPGSILV NTNLRALINS RTFHALPSHF QQQLLFLLPE VDRQVGTDGL
   301  LRLSSSALNN EFFTHAAQSW RERLADGEFT HEMQVRIRQE MEKEKKVEQW KEKFFEDYYG
   361  QKLGLTKEES LQQNVGQEEA EIKSGLCVPG ESVRIQRGPA TRQRDGHFKK RSRPDLRTRA
   421  RRNLYKKQES EQAGVAKDAK SVASDVPLYK DGEAKTDPAG LSSPHLPGTS SAAPDLEGPE
   481  FPVESVASRI QAEPDNLARA SASPDRIPSL PQETVDQEPK DQKRKSFEQA ASASFPEKKP
   541  RLEDRQSFRN TIESVHTEKP QPTKEEPKVP PIRIQLSRIK PPWVVKGQPT YQICPRIIPT
   601  TESSCRGWTG ARTLADIKAR ALQVRGARGH HCHREAATTA IGGGGGPGGG GGGATDEGGG
   661  RGSSSGDGGE ACGHPEPRGG PSTPGKCTSD LQRTQLLPPY PLNGEHTQAG TAMSRARRED
   721  LPSLRKEESC LLQRATVGLT DGLGDASQLP VAPTGDQPCQ ALPLLSSQTS VAERLVEQPQ
   781  LHPDVRTECE SGTTSWESDD EEQGPTVPAD NGPIPSLVGD DTLEKGTGQA LDSHPTMKDP
   841  VNVTPSSTPE SSPTDCLQNR AFDDELGLGG SCPPMRESDT RQENLKTKAL VSNSSLHWIP
   901  IPSNDEVVKQ PKPESREHIP SVEPQVGEEW EKAAPTPPAL PGDLTAEEGL DPLDSLTSLW
   961  TVPSRGGSDS NGSYCQQVDI EKLKINGDSE ALSPHGESTD TASDFEGHLT EDSSEADTRE
  1021  AAVTKGSSVD KDEKPNWNQS APLSKVNGDM RLVTRTDGMV APQSWVSRVC AVRQKIPDSL
  1081  LLASTEYQPR AVCLSMPGSS VEATNPLVMQ LLQGSLPLEK VLPPAHDDSM SESPQVPLTK
  1141  DQSHGSLRMG SLHGLGKNSG MVDGSSPSSL RALKEPLLPD SCETGTGLAR IEATQAPGAP
  1201  QKNCKAVPSF DSLHPVTNPI TSSRKLEEMD SKEQFSSFSC EDQKEVRAMS QDSNSNAAPG
  1261  KSPGDLTTSR TPRFSSPNVI SFGPEQTGRA LGDQSNVTGQ GKKLFGSGNV AATLQRPRPA
  1321  DPMPLPAEIP PVFPSGKLGP STNSMSGGVQ TPREDWAPKP HAFVGSVKNE KTFVGGPLKA
  1381  NAENRKATGH SPLELVGHLE GMPFVMDLPF WKLPREPGKG LSEPLEPSSL PSQLSIKQAF
  1441  YGKLSKLQLS STSFNYSSSS PTFPKGLAGS VVQLSHKANF GASHSASLSL QMFTDSSTVE
  1501  SISLQCACSL KAMIMCQGCG AFCHDDCIGP SKLCVLCLVV R

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ASXL1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.64
Highest tissue expression: 35 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 35 nTPM
testis: 31 nTPM
spleen: 29 nTPM
lung: 28 nTPM
pancreas: 28 nTPM
liver: 28 nTPM

Single-cell type

renal collecting duct intercalated cells: 449 nCPM
salivary myoepithelial cells: 326 nCPM
endometrial stromal cells: 286 nCPM
choroid plexus epithelial cells: 270 nCPM
cone photoreceptor cells: 265 nCPM
lymphatic endothelial cells: 245 nCPM

Immune cell

T-reg: 9 nTPM
memory B-cell: 4.8 nTPM
naive CD8 T-cell: 4.1 nTPM
memory CD8 T-cell: 3.9 nTPM
memory CD4 T-cell: 3.6 nTPM
naive CD4 T-cell: 3.5 nTPM

Brain region

choroid plexus: 40 nTPM
white matter: 32 nTPM
medulla oblongata: 31 nTPM
hypothalamus: 29 nTPM
cerebellum: 28 nTPM
cerebral cortex: 28 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ASXL1.

Disease | AllUniProt

Conditions ASXL1 is implicated in, by any mechanism.

Bohring-Opitz syndrome (BOPS) MIM:605039
Myelodysplastic syndrome (MDS) MIM:614286

Disease | GeneticClinVar

148 pathogenic / likely-pathogenic of 2,617 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Bohring-Opitz syndrome
Inborn genetic diseases
Myelodysplastic syndrome
ASXL1-related disorder
Neoplasm

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.79
gnomAD pLI: 0
gnomAD missense Z: 0.64
DepMap mean gene effect: 0.03
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 14% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ASXL1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ASXL1 as an antibody target. Whether an autoantibody or antibody against ASXL1 could matter depends on whether native ASXL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ASXL1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label ASXL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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