Seroatlas · Human Serome Atlas

ASH1L

Histone-lysine N-methyltransferase ASH1L

Also known as: ASH1, ASH1L_HUMAN, ASH1L1, huASH1, KMT2H

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

Protein identityUniProt · HPA

UniProt accession
Q9NR48
Gene
ASH1L
Ensembl
ENSG00000116539
Chromosome
1
Canonical length
2969 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Golgi apparatus

OverviewNCBI Gene

This gene encodes a member of the trithorax group of transcriptional activators. The protein contains four AT hooks, a SET domain, a PHD-finger motif, and a bromodomain. It is localized to many small speckles in the nucleus, and also to cell-cell tight junctions. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

2969 residues, UniProt reviewed canonical sequence.

>Q9NR48|ASH1L
     1  MDPRNTAMLG LGSDSEGFSR KSPSAISTGT LVSKREVELE KNTKEEEDLR KRNRERNIEA
    61  GKDDGLTDAQ QQFSVKETNF SEGNLKLKIG LQAKRTKKPP KNLENYVCRP AIKTTIKHPR
   121  KALKSGKMTD EKNEHCPSKR DPSKLYKKAD DVAAIECQSE EVIRLHSQGE NNPLSKKLSP
   181  VHSEMADYIN ATPSTLLGSR DPDLKDRALL NGGTSVTEKL AQLIATCPPS KSSKTKPKKL
   241  GTGTTAGLVS KDLIRKAGVG SVAGIIHKDL IKKPTISTAV GLVTKDPGKK PVFNAAVGLV
   301  NKDSVKKLGT GTTAVFINKN LGKKPGTITT VGLLSKDSGK KLGIGIVPGL VHKESGKKLG
   361  LGTVVGLVNK DLGKKLGSTV GLVAKDCAKK IVASSAMGLV NKDIGKKLMS CPLAGLISKD
   421  AINLKAEALL PTQEPLKASC STNINNQESQ ELSESLKDSA TSKTFEKNVV RQNKESILEK
   481  FSVRKEIINL EKEMFNEGTC IQQDSFSSSE KGSYETSKHE KQPPVYCTSP DFKMGGASDV
   541  STAKSPFSAV GESNLPSPSP TVSVNPLTRS PPETSSQLAP NPLLLSSTTE LIEEISESVG
   601  KNQFTSESTH LNVGHRSVGH SISIECKGID KEVNDSKTTH IDIPRISSSL GKKPSLTSES
   661  SIHTITPSVV NFTSLFSNKP FLKLGAVSAS DKHCQVAESL STSLQSKPLK KRKGRKPRWT
   721  KVVARSTCRS PKGLELERSE LFKNVSCSSL SNSNSEPAKF MKNIGPPSFV DHDFLKRRLP
   781  KLSKSTAPSL ALLADSEKPS HKSFATHKLS SSMCVSSDLL SDIYKPKRGR PKSKEMPQLE
   841  GPPKRTLKIP ASKVFSLQSK EEQEPPILQP EIEIPSFKQG LSVSPFPKKR GRPKRQMRSP
   901  VKMKPPVLSV APFVATESPS KLESESDNHR SSSDFFESED QLQDPDDLDD SHRPSVCSMS
   961  DLEMEPDKKI TKRNNGQLMK TIIRKINKMK TLKRKKLLNQ ILSSSVESSN KGKVQSKLHN
  1021  TVSSLAATFG SKLGQQINVS KKGTIYIGKR RGRKPKTVLN GILSGSPTSL AVLEQTAQQA
  1081  AGSALGQILP PLLPSSASSS EILPSPICSQ SSGTSGGQSP VSSDAGFVEP SSVPYLHLHS
  1141  RQGSMIQTLA MKKASKGRRR LSPPTLLPNS PSHLSELTSL KEATPSPISE SHSDETIPSD
  1201  SGIGTDNNST SDRAEKFCGQ KKRRHSFEHV SLIPPETSTV LSSLKEKHKH KCKRRNHDYL
  1261  SYDKMKRQKR KRKKKYPQLR NRQDPDFIAE LEELISRLSE IRITHRSHHF IPRDLLPTIF
  1321  RINFNSFYTH PSFPLDPLHY IRKPDLKKKR GRPPKMREAM AEMPFMHSLS FPLSSTGFYP
  1381  SYGMPYSPSP LTAAPIGLGY YGRYPPTLYP PPPSPSFTTP LPPPSYMHAG HLLLNPAKYH
  1441  KKKHKLLRQE AFLTTSRTPL LSMSTYPSVP PEMAYGWMVE HKHRHRHKHR EHRSSEQPQV
  1501  SMDTGSSRSV LESLKRYRFG KDAVGERYKH KEKHRCHMSC PHLSPSKSLI NREEQWVHRE
  1561  PSESSPLALG LQTPLQIDCS ESSPSLSLGG FTPNSEPASS DEHTNLFTSA IGSCRVSNPN
  1621  SSGRKKLTDS PGLFSAQDTS LNRLHRKESL PSNERAVQTL AGSQPTSDKP SQRPSESTNC
  1681  SPTRKRSSSE STSSTVNGVP SRSPRLVASG DDSVDSLLQR MVQNEDQEPM EKSIDAVIAT
  1741  ASAPPSSSPG RSHSKDRTLG KPDSLLVPAV TSDSCNNSIS LLSEKLTSSC SPHHIKRSVV
  1801  EAMQRQARKM CNYDKILATK KNLDHVNKIL KAKKLQRQAR TGNNFVKRRP GRPRKCPLQA
  1861  VVSMQAFQAA QFVNPELNRD EEGAALHLSP DTVTDVIEAV VQSVNLNPEH KKGLKRKGWL
  1921  LEEQTRKKQK PLPEEEEQEN NKSFNEAPVE IPSPSETPAK PSEPESTLQP VLSLIPREKK
  1981  PPRPPKKKYQ KAGLYSDVYK TTDPKSRLIQ LKKEKLEYTP GEHEYGLFPA PIHVVFFVSG
  2041  KYLRQKRIDF QLPYDILWQW KHNQLYKKPD VPLYKKIRSN VYVDVKPLSG YEATTCNCKK
  2101  PDDDTRKGCV DDCLNRMIFA ECSPNTCPCG EQCCNQRIQR HEWVQCLERF RAEEKGWGIR
  2161  TKEPLKAGQF IIEYLGEVVS EQEFRNRMIE QYHNHSDHYC LNLDSGMVID SYRMGNEARF
  2221  INHSCDPNCE MQKWSVNGVY RIGLYALKDM PAGTELTYDY NFHSFNVEKQ QLCKCGFEKC
  2281  RGIIGGKSQR VNGLTSSKNS QPMATHKKSG RSKEKRKSKH KLKKRRGHLS EEPSENINTP
  2341  TRLTPQLQMK PMSNRERNFV LKHHVFLVRN WEKIRQKQEE VKHTSDNIHS ASLYTRWNGI
  2401  CRDDGNIKSD VFMTQFSALQ TARSVRTRRL AAAEENIEVA RAARLAQIFK EICDGIISYK
  2461  DSSRQALAAP LLNLPPKKKN ADYYEKISDP LDLITIEKQI LTGYYKTVEA FDADMLKVFR
  2521  NAEKYYGRKS PVGRDVCRLR KAYYNARHEA SAQIDEIVGE TASEADSSET SVSEKENGHE
  2581  KDDDVIRCIC GLYKDEGLMI QCDKCMVWQH CDCMGVNSDV EHYLCEQCDP RPVDREVPMI
  2641  PRPHYAQPGC VYFICLLRDD LLLRQGDCVY LMRDSRRTPD GHPVRQSYRL LSHINRDKLD
  2701  IFRIEKLWKN EKEERFAFGH HYFRPHETHH SPSRRFYHNE LFRVPLYEII PLEAVVGTCC
  2761  VLDLYTYCKG RPKGVKEQDV YICDYRLDKS AHLFYKIHRN RYPVCTKPYA FDHFPKKLTP
  2821  KKDFSPHYVP DNYKRNGGRS SWKSERSKPP LKDLGQEDDA LPLIEEVLAS QEQAANEIPS
  2881  LEEPEREGAT ANVSEGEKKT EESSQEPQST CTPEERRHNQ RERLNQILLN LLEKIPGKNA
  2941  IDVTYLLEEG SGRKLRRRTL FIPENSFRK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ASH1L 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
Cell surface
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0
Highest tissue expression
35 nTPM

Expression across tissuesHPA

Tissue

  • cerebellum: 35 nTPM
  • skeletal muscle: 34 nTPM
  • blood vessel: 27 nTPM
  • cerebral cortex: 26 nTPM
  • ovary: 25 nTPM
  • retina: 24 nTPM

Single-cell type

  • myonuclei: 870 nCPM
  • neutrophils: 774 nCPM
  • neutrophil progenitors: 599 nCPM
  • thymocytes: 496 nCPM
  • proximal tubule cells: 469 nCPM
  • choroid plexus epithelial cells: 465 nCPM

Immune cell

  • basophil: 1 nTPM
  • neutrophil: 1 nTPM
  • memory B-cell: 0.9 nTPM
  • T-reg: 0.9 nTPM
  • eosinophil: 0.8 nTPM
  • naive B-cell: 0.8 nTPM

Brain region

  • cerebellum: 51 nTPM
  • cerebral cortex: 45 nTPM
  • basal ganglia: 44 nTPM
  • hippocampal formation: 44 nTPM
  • white matter: 43 nTPM
  • thalamus: 40 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ASH1L.

Disease | AllUniProt

Conditions ASH1L is implicated in, by any mechanism.

  • Intellectual developmental disorder, autosomal dominant 52 (MRD52) MIM:617796

Disease | GeneticClinVar

104 pathogenic / likely-pathogenic of 977 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.06
gnomAD pLI
1
gnomAD missense Z
3.47
DepMap mean gene effect
-0.2
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% 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

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ASH1L as an antibody target. Whether an autoantibody or antibody against ASH1L could matter depends on whether native ASH1L is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ASH1L is annotated at the cell surface, where native ASH1L is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label ASH1L as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ASH1L. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

© 2026 · Seroatlas, Discover Oregon LLC · Terms of use

Loading the interactive Seroatlas protein explorer...