• Gene id: 55870

Gene Summary

• Gene Symbol: ASH1L   Gene   UCSC   Ensembl
• Aliases: ASH1, ASH1L1, KMT2H, MRD52
• Gene name: ASH1 like histone lysine methyltransferase
• Alternate names: histone-lysine N-methyltransferase ASH1L, ASH1-like protein, absent small and homeotic disks protein 1 homolog, ash1 (absent, small, or homeotic)-like, lysine N-methyltransferase 2H, probable histone-lysine N-methyltransferase ASH1L,
• Gene location: 1q22 (155563159: 155335262)     Exons: 33     NC_000001.11
• Gene summary(Entrez): 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 ju
• OMIM: 607999

Protein Summary

• Protein general information: Q9NR48  
  • Name: Histone lysine N methyltransferase ASH1L (EC 2.1.1. ) (EC 2.1.1.359) (ASH1 like protein) (huASH1) (Absent small and homeotic disks protein 1 homolog) (Lysine N methyltransferase 2H)
  • Length: 2969  
  • Mass: 332790
  • Tissue specificity: Widely expressed, with highest level in brain, heart and kidney. {ECO
• Sequence:

  MDPRNTAMLGLGSDSEGFSRKSPSAISTGTLVSKREVELEKNTKEEEDLRKRNRERNIEAGKDDGLTDAQQQFSV
  KETNFSEGNLKLKIGLQAKRTKKPPKNLENYVCRPAIKTTIKHPRKALKSGKMTDEKNEHCPSKRDPSKLYKKAD
  DVAAIECQSEEVIRLHSQGENNPLSKKLSPVHSEMADYINATPSTLLGSRDPDLKDRALLNGGTSVTEKLAQLIA
  TCPPSKSSKTKPKKLGTGTTAGLVSKDLIRKAGVGSVAGIIHKDLIKKPTISTAVGLVTKDPGKKPVFNAAVGLV
  NKDSVKKLGTGTTAVFINKNLGKKPGTITTVGLLSKDSGKKLGIGIVPGLVHKESGKKLGLGTVVGLVNKDLGKK
  LGSTVGLVAKDCAKKIVASSAMGLVNKDIGKKLMSCPLAGLISKDAINLKAEALLPTQEPLKASCSTNINNQESQ
  ELSESLKDSATSKTFEKNVVRQNKESILEKFSVRKEIINLEKEMFNEGTCIQQDSFSSSEKGSYETSKHEKQPPV
  YCTSPDFKMGGASDVSTAKSPFSAVGESNLPSPSPTVSVNPLTRSPPETSSQLAPNPLLLSSTTELIEEISESVG
  KNQFTSESTHLNVGHRSVGHSISIECKGIDKEVNDSKTTHIDIPRISSSLGKKPSLTSESSIHTITPSVVNFTSL
  FSNKPFLKLGAVSASDKHCQVAESLSTSLQSKPLKKRKGRKPRWTKVVARSTCRSPKGLELERSELFKNVSCSSL
  SNSNSEPAKFMKNIGPPSFVDHDFLKRRLPKLSKSTAPSLALLADSEKPSHKSFATHKLSSSMCVSSDLLSDIYK
  PKRGRPKSKEMPQLEGPPKRTLKIPASKVFSLQSKEEQEPPILQPEIEIPSFKQGLSVSPFPKKRGRPKRQMRSP
  VKMKPPVLSVAPFVATESPSKLESESDNHRSSSDFFESEDQLQDPDDLDDSHRPSVCSMSDLEMEPDKKITKRNN
  GQLMKTIIRKINKMKTLKRKKLLNQILSSSVESSNKGKVQSKLHNTVSSLAATFGSKLGQQINVSKKGTIYIGKR
  RGRKPKTVLNGILSGSPTSLAVLEQTAQQAAGSALGQILPPLLPSSASSSEILPSPICSQSSGTSGGQSPVSSDA
  GFVEPSSVPYLHLHSRQGSMIQTLAMKKASKGRRRLSPPTLLPNSPSHLSELTSLKEATPSPISESHSDETIPSD
  SGIGTDNNSTSDRAEKFCGQKKRRHSFEHVSLIPPETSTVLSSLKEKHKHKCKRRNHDYLSYDKMKRQKRKRKKK
  YPQLRNRQDPDFIAELEELISRLSEIRITHRSHHFIPRDLLPTIFRINFNSFYTHPSFPLDPLHYIRKPDLKKKR
  GRPPKMREAMAEMPFMHSLSFPLSSTGFYPSYGMPYSPSPLTAAPIGLGYYGRYPPTLYPPPPSPSFTTPLPPPS
  YMHAGHLLLNPAKYHKKKHKLLRQEAFLTTSRTPLLSMSTYPSVPPEMAYGWMVEHKHRHRHKHREHRSSEQPQV
  SMDTGSSRSVLESLKRYRFGKDAVGERYKHKEKHRCHMSCPHLSPSKSLINREEQWVHREPSESSPLALGLQTPL
  QIDCSESSPSLSLGGFTPNSEPASSDEHTNLFTSAIGSCRVSNPNSSGRKKLTDSPGLFSAQDTSLNRLHRKESL
  PSNERAVQTLAGSQPTSDKPSQRPSESTNCSPTRKRSSSESTSSTVNGVPSRSPRLVASGDDSVDSLLQRMVQNE
  DQEPMEKSIDAVIATASAPPSSSPGRSHSKDRTLGKPDSLLVPAVTSDSCNNSISLLSEKLTSSCSPHHIKRSVV
  EAMQRQARKMCNYDKILATKKNLDHVNKILKAKKLQRQARTGNNFVKRRPGRPRKCPLQAVVSMQAFQAAQFVNP
  ELNRDEEGAALHLSPDTVTDVIEAVVQSVNLNPEHKKGLKRKGWLLEEQTRKKQKPLPEEEEQENNKSFNEAPVE
  IPSPSETPAKPSEPESTLQPVLSLIPREKKPPRPPKKKYQKAGLYSDVYKTTDPKSRLIQLKKEKLEYTPGEHEY
  GLFPAPIHVVFFVSGKYLRQKRIDFQLPYDILWQWKHNQLYKKPDVPLYKKIRSNVYVDVKPLSGYEATTCNCKK
  PDDDTRKGCVDDCLNRMIFAECSPNTCPCGEQCCNQRIQRHEWVQCLERFRAEEKGWGIRTKEPLKAGQFIIEYL
  GEVVSEQEFRNRMIEQYHNHSDHYCLNLDSGMVIDSYRMGNEARFINHSCDPNCEMQKWSVNGVYRIGLYALKDM
  PAGTELTYDYNFHSFNVEKQQLCKCGFEKCRGIIGGKSQRVNGLTSSKNSQPMATHKKSGRSKEKRKSKHKLKKR
  RGHLSEEPSENINTPTRLTPQLQMKPMSNRERNFVLKHHVFLVRNWEKIRQKQEEVKHTSDNIHSASLYTRWNGI
  CRDDGNIKSDVFMTQFSALQTARSVRTRRLAAAEENIEVARAARLAQIFKEICDGIISYKDSSRQALAAPLLNLP
  PKKKNADYYEKISDPLDLITIEKQILTGYYKTVEAFDADMLKVFRNAEKYYGRKSPVGRDVCRLRKAYYNARHEA
  SAQIDEIVGETASEADSSETSVSEKENGHEKDDDVIRCICGLYKDEGLMIQCDKCMVWQHCDCMGVNSDVEHYLC
  EQCDPRPVDREVPMIPRPHYAQPGCVYFICLLRDDLLLRQGDCVYLMRDSRRTPDGHPVRQSYRLLSHINRDKLD
  IFRIEKLWKNEKEERFAFGHHYFRPHETHHSPSRRFYHNELFRVPLYEIIPLEAVVGTCCVLDLYTYCKGRPKGV
  KEQDVYICDYRLDKSAHLFYKIHRNRYPVCTKPYAFDHFPKKLTPKKDFSPHYVPDNYKRNGGRSSWKSERSKPP
  LKDLGQEDDALPLIEEVLASQEQAANEIPSLEEPEREGATANVSEGEKKTEESSQEPQSTCTPEERRHNQRERLN
  QILLNLLEKIPGKNAIDVTYLLEEGSGRKLRRRTLFIPENSFRK

• Structural information:
  • Protein Domains: (2091..214-)
    (/note="AWS-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00562-)
    (2145..226-)
    (/note="SET-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00190-)
    (2269..228-)
    (/note="Post-SET-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00155"-)
  • Interpro: IPR017956  IPR006560  IPR001025  IPR001487  IPR036427   IPR003616  IPR001214  IPR019786  IPR011011  IPR001965  IPR013083  
  • Prosite: PS51215 PS51038 PS50014 PS50868 PS50280 PS01359
  • PDB: 3MQM 3OPE 4YNM 4YNP 4YPA 4YPE 4YPU 6AGO 6INE
  • PDBsum: 3MQM 3OPE 4YNM 4YNP 4YPA 4YPE 4YPU 6AGO 6INE
  • STRING: ENSP00000376204
• Other Databases: GeneCards:  ASH1L  Malacards:  ASH1L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0018024	histone-lysine N-methyltransferase activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006325	chromatin organization	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0032259	methylation	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0005923	bicellular tight junction	TAS	cellular component
GO:0006323	DNA packaging	TAS	biological process
GO:0006366	transcription by RNA polymerase II	TAS	biological process
GO:0007267	cell-cell signaling	TAS	biological process
GO:0097676	histone H3-K36 dimethylation	IDA	biological process
GO:0046975	histone methyltransferase activity (H3-K36 specific)	IDA	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:1903709	uterine gland development	IEA	biological process
GO:0046974	histone methyltransferase activity (H3-K9 specific)	IEA	molecular function
GO:0043124	negative regulation of I-kappaB kinase/NF-kappaB signaling	IEA	biological process
GO:0042800	histone methyltransferase activity (H3-K4 specific)	IEA	molecular function
GO:0032635	interleukin-6 production	IEA	biological process
GO:0009791	post-embryonic development	IEA	biological process
GO:0007338	single fertilization	IEA	biological process
GO:0001501	skeletal system development	IEA	biological process
GO:1903699	tarsal gland development	IEA	biological process
GO:0061038	uterus morphogenesis	IEA	biological process
GO:0051568	histone H3-K4 methylation	IEA	biological process
GO:0050728	negative regulation of inflammatory response	IEA	biological process
GO:0048733	sebaceous gland development	IEA	biological process
GO:0046697	decidualization	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0043409	negative regulation of MAPK cascade	IEA	biological process
GO:0030317	flagellated sperm motility	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0002674	negative regulation of acute inflammatory response	IEA	biological process
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0051567	histone H3-K9 methylation	IEA	biological process
GO:0051567	histone H3-K9 methylation	IEA	biological process
GO:0046974	histone methyltransferase activity (H3-K9 specific)	ISS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00310	Lysine degradation

Diseases

Associated diseases	References
Autosomal dominant mental retardation	KEGG:H00773
Autosomal dominant mental retardation	KEGG:H00773
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq