Seroatlas · Human Serome Atlas

ASXL3

Putative Polycomb group protein ASXL3

Also known as: ASXL3_HUMAN, KIAA1713

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

Protein identityUniProt · HPA

UniProt accession: Q9C0F0
Gene: ASXL3
Ensembl: ENSG00000141431
Chromosome: 18
Canonical length: 2248 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

This gene encodes a protein containing a plant homeodomain (PHD) zinc finger domain that plays a role in the regulation of gene transcription. The encoded protein has been shown to negatively regulate lipogenesis by binding to and inhibiting the transcriptional activity of two nuclear hormone receptors, oxysterols receptor LXR-alpha (LXRalpha) and thyroid hormone receptor beta (TRbeta). The encoded protein may also inhibit histone deubiquitination. Mutations in this gene have been identified in human patients with Bainbridge-Ropers syndrome, which is characterized by feeding difficulties, developmental delay and other features. [provided by RefSeq, May 2017]

Canonical amino-acid sequenceUniProt

2248 residues, UniProt reviewed canonical sequence.

>Q9C0F0|ASXL3
     1  MKDKRKKKDR TWAEAARLAL EKHPNSPMTA KQILEVIQKE GLKETSGTSP LACLNAMLHT
    61  NTRIGDGTFF KIPGKSGLYA LKKEESSCPA DGTLDLVCES ELDGTDMAEA NAHGEENGVC
   121  SKQVTDEASS TRDSSLTNTA VQSKLVSSFQ QHTKKALKQA LRQQQKRRNG VSMMVNKTVP
   181  RVVLTPLKVS DEQSDSPSGS ESKNGEADSS DKEMKHGQKS PTGKQTSQHL KRLKKSGLGH
   241  LKWTKAEDID IETPGSILVN TNLRALINKH TFASLPQHFQ QYLLLLLPEV DRQMGSDGIL
   301  RLSTSALNNE FFAYAAQGWK QRLAEGEFTP EMQLRIRQEI EKEKKTEPWK EKFFERFYGE
   361  KLGMSREESV KLTTGPNNAG AQSSSSCGTS GLPVSAQTAL AEQQPKSMKS PASPEPGFCA
   421  TLCPMVEIPP KDIMAELESE DILIPEESVI QEEIAEEVET SICECQDENH KTIPEFSEEA
   481  ESLTNSHEEP QIAPPEDNLE SCVMMNDVLE TLPHIEVKIE GKSESPQEEM TVVIDQLEVC
   541  DSLIPSTSSM THVSDTEHKE SETAVETSTP KIKTGSSSLE GQFPNEGIAI DMELQSDPEE
   601  QLSENACISE TSFSSESPEG ACTSLPSPGG ETQSTSEESC TPASLETTFC SEVSSTENTD
   661  KYNQRNSTDE NFHASLMSEI SPISTSPEIS EASLMSNLPL TSEASPVSNL PLTSETSPMS
   721  DLPLTSETSS VSSMLLTSET TFVSSLPLPS ETSPISNSSI NERMAHQQRK SPSVSEEPLS
   781  PQKDESSATA KPLGENLTSQ QKNLSNTPEP IIMSSSSIAP EAFPSEDLHN KTLSQQTCKS
   841  HVDTEKPYPA SIPELASTEM IKVKNHSVLQ RTEKKVLPSP LELSVFSEGT DNKGNELPSA
   901  KLQDKQYISS VDKAPFSEGS RNKTHKQGST QSRLETSHTS KSSEPSKSPD GIRNESRDSE
   961  ISKRKTAEQH SFGICKEKRA RIEDDQSTRN ISSSSPPEKE QPPREEPRVP PLKIQLSKIG
  1021  PPFIIKSQPV SKPESRASTS TSVSGGRNTG ARTLADIKAR AQQARAQREA AAAAAVAAAA
  1081  SIVSGAMGSP GEGGKTRTLA HIKEQTKAKL FAKHQARAHL FQTSKETRLP PPLSSKEGPP
  1141  NLEVSSTPET KMEGSTGVII VNPNCRSPSN KSAHLRETTT VLQQSLNPSK LPETATDLSV
  1201  HSSDENIPVS HLSEKIVSST SSENSSVPML FNKNSVPVSV CSTAISGAIK EHPFVSSVDK
  1261  SSVLMSVDSA NTTISACNIS MLKTIQGTDT PCIAIIPKCI ESTPISATTE GSSISSSMDD
  1321  KQLLISSSSA SNLVSTQYTS VPTPSIGNNL PNLSTSSVLI PPMGINNRFP SEKIAIPGSE
  1381  EQATVSMGTT VRAALSCSDS VAVTDSLVAH PTVAMFTGNM LTINSYDSPP KLSAESLDKN
  1441  SGPRNRADNS GKPQQPPGGF APAAINRSIP CKVIVDHSTT LTSSLSLTVS VESSEASLDL
  1501  QGRPVRTEAS VQPVACPQVS VISRPEPVAN EGIDHSSTFI AASAAKQDSK TLPATCTSLR
  1561  ELPLVPDKLN EPTAPSHNFA EQARGPAPFK SEADTTCSNQ YNPSNRICWN DDGMRSTGQP
  1621  LVTHSGSSKQ KEYLEQSCPK AIKTEHANYL NVSELHPRNL VTNVALPVKS ELHEADKGFR
  1681  MDTEDFPGPE LPPPAAEGAS SVQQTQNMKA STSSPMEEAI SLATDALKRV PGAGSSGCRL
  1741  SSVEANNPLV TQLLQGNLPL EKVLPQPRLG AKLEINRLPL PLQTTSVGKT APERNVEIPP
  1801  SSPNPDGKGY LAGTLAPLQM RKRENHPKKR VARTVGEHTQ VKCEPGKLLV EPDVKGVPCV
  1861  ISSGISQLGH SQPFKQEWLN KHSMQNRIVH SPEVKQQKRL LPSCSFQQNL FHVDKNGGFH
  1921  TDAGTSHRQQ FYQMPVAARG PIPTAALLQA SSKTPVGCNA FAFNRHLEQK GLGEVSLSSA
  1981  PHQLRLANML SPNMPMKEGD EVGGTAHTMP NKALVHPPPP PPPPPPPPLA LPPPPPPPPP
  2041  LPPPLPNAEV PSDQKQPPVT METTKRLSWP QSTGICSNIK SEPLSFEEGL SSSCELGMKQ
  2101  VSYDQNEMKE QLKAFALKSA DFSSYLLSEP QKPFTQLAAQ KMQVQQQQQL CGNYPTIHFG
  2161  STSFKRAASA IEKSIGILGS GSNPATGLSG QNAQMPVQNF ADSSNADELE LKCSCRLKAM
  2221  IVCKGCGAFC HDDCIGPSKL CVACLVVR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ASXL3 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): 0.62
Highest tissue expression: 1.7 nTPM

Expression across tissuesHPA

Tissue

ovary: 1.7 nTPM
testis: 1.5 nTPM
cerebral cortex: 1.4 nTPM
hypothalamus: 0.8 nTPM
thyroid gland: 0.8 nTPM
amygdala: 0.7 nTPM

Single-cell type

pituitary stem cells: 337 nCPM
corticotrophs: 207 nCPM
retinal amacrine cells: 196 nCPM
renal connecting tubule cells: 148 nCPM
early spermatids: 137 nCPM
choroid plexus epithelial cells: 136 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

cerebral cortex: 8.2 nTPM
basal ganglia: 7.9 nTPM
hypothalamus: 5.9 nTPM
white matter: 5.6 nTPM
amygdala: 5 nTPM
midbrain: 5 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ASXL3.

Disease | AllUniProt

Conditions ASXL3 is implicated in, by any mechanism.

Bainbridge-Ropers syndrome (BRPS) MIM:615485

Disease | GeneticClinVar

242 pathogenic / likely-pathogenic of 1,025 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
Inborn genetic diseases
ASXL3-related disorder
Intellectual disability
Autism spectrum disorder

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): 0.2
gnomAD pLI: 1
gnomAD missense Z: 0.61
DepMap mean gene effect: 0.17
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

PR-DUB complex

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ASXL3 as an antibody target. Whether an autoantibody or antibody against ASXL3 could matter depends on whether native ASXL3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ASXL3 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 ASXL3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...