Q9VW15

SS
Gene name
ash1 (KMT2H, CG8887)
Protein name
Histone-lysine N-methyltransferase ash1
Names
EC 2.1.1.354 , Absent small and homeotic disks protein 1 , Lysine N-methyltransferase 2H
Species
Drosophila melanogaster (Fruit fly)
KEGG Pathway
dme:Dmel_CG8887
EC number
2.1.1.354: Methyltransferases
Protein Class

Descriptions

ASH1L (absent, small, or homeotic-like 1) is a histone methyltransferase (HMTase) involved in gene activation. Its autoinhibitory loop in the post-SET subdomain blocks the access of histone substrate to the active site in the catalytic SET domain. There is another loop in the SET-I subdomain. The SET-I region forms key contacts with histone substrates, indicating that it likely functions in determining substrate specificity among different HMTases. The mutations within the SET-I loop decreases ASH1L enzyme activity. ASH1L also contains three C-terminal chromatic-interacting domains (bromodomain, plant homeodomain, and bromo-associated homology domain), which recognize post-translational modifications on native nucleosomes and facilitate catalytic activity of the SET domain via substrate recruitment.

Autoinhibitory domains (AIDs)

1503-1511 (Autoinhibitory loop) SS

Target domain

1390-1512 (SET domain)

Relief mechanism

Partner binding

Assay

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

1 structures for Q9VW15

Entry ID Method Resolution Chain Position Source
AF-Q9VW15-F1 Predicted AlphaFoldDB

No variants for Q9VW15

Variant ID(s) Position Change Description Diseaes Association Provenance
No variants for Q9VW15

No associated diseases with Q9VW15

7 regional properties for Q9VW15

Type Name Position InterPro Accession
domain Protein kinase domain 191 - 445 IPR000719
domain SH2 domain 76 - 170 IPR000980
domain Serine-threonine/tyrosine-protein kinase, catalytic domain 192 - 441 IPR001245
active_site Tyrosine-protein kinase, active site 308 - 320 IPR008266
binding_site Protein kinase, ATP binding site 197 - 219 IPR017441
domain Tyrosine-protein kinase, catalytic domain 191 - 441 IPR020635
domain PTK6, SH2 domain 75 - 174 IPR035846

Functions

Description
EC Number 2.1.1.354 Methyltransferases
Subcellular Localization
  • Nucleus
  • Chromosome
  • Localizes at the promoter of active genes
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

6 GO annotations of cellular component

Name Definition
chromatin The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
histone methyltransferase complex A multimeric complex that is able to catalyze the addition of methyl groups to histone proteins.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
polytene chromosome A type of chromosome in a polyploid cell, formed when multiple copies of homologous chromosomes are aligned side by side to give a giant chromosome in which distinct chromosome bands are readily visible.
protein-containing complex A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.

9 GO annotations of molecular function

Name Definition
chromatin binding Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
histone acetyltransferase binding Binding to an histone acetyltransferase.
histone H3K36 dimethyltransferase activity Catalysis of the reaction
histone H3K36 methyltransferase activity Catalysis of the reaction
histone H3K4 methyltransferase activity Catalysis of the reaction
histone H3K4 trimethyltransferase activity Catalysis of the reaction
histone methyltransferase activity Catalysis of the reaction
identical protein binding Binding to an identical protein or proteins.
metal ion binding Binding to a metal ion.

8 GO annotations of biological process

Name Definition
egg-laying behavior A reproductive behavior that results in the deposition of eggs (either fertilized or not) upon a surface or into a medium such as water.
embryonic development via the syncytial blastoderm The process whose specific outcome is the progression of the embryo over time, from zygote formation through syncytial blastoderm to the hatching of the first instar larva. An example of this process is found in Drosophila melanogaster.
methylation The process in which a methyl group is covalently attached to a molecule.
oogenesis The complete process of formation and maturation of an ovum or female gamete from a primordial female germ cell. Examples of this process are found in Mus musculus and Drosophila melanogaster.
positive regulation of gene expression Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
regulation of DNA-templated transcription Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.
retrotransposon silencing by heterochromatin formation A retrotransposon silencing mechanism involving heterochromatin assembly. Heterochromatin is a chromatin conformation that is refractory to transcription.
transcription initiation-coupled chromatin remodeling An epigenetic mechanism of regulation of gene expression that involves chromatin remodeling to capacitate gene expression by either modifying the chromatin fiber, the nucleosomal histones, or the DNA.

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9NR48 ASH1L Histone-lysine N-methyltransferase ASH1L Homo sapiens (Human) EV
Q99MY8 Ash1l Histone-lysine N-methyltransferase ASH1L Mus musculus (Mouse) SS
10 20 30 40 50 60
MSCSQNETAA AKVLETQRAQ ESGSENEETD SITDQSSQSK SIKSATQFSV QRSDTDGLRM
70 80 90 100 110 120
RISAIRPTLG VVATKKPPKS RKMSTQDTES GCSEAKNRAV SKKVKVKRKK LASSSGISKS
130 140 150 160 170 180
DKVSKSKKSQ ISAFSSDSED DLPLKVHQQR APRVLLSAII QAAQSASKPT LDIGISSSDN
190 200 210 220 230 240
ELPNLVQAAI KRVESDTEDT TVEGSFRKAA KDKNLPQYQS TLLQDFMEKT QMLGQTVNAK
250 260 270 280 290 300
LAEEKVAKAK EETLVQTAVP RKRRGRPKKV VPTVPAPGNS GPAINESADS GVISTTSTTQ
310 320 330 340 350 360
STTPSPKMQN ENAVPTGSLP IASSSKPKID MAYLDKRMYA TERVLYPPPR SKRRQNNKKT
370 380 390 400 410 420
ACSSSNKEEL QLDPLWREID VNKKFRLRSM SVGAASGTGA STTICSKVLA AKSGYVSDYG
430 440 450 460 470 480
SVRHQRSSHN HNSGYKSDAS CKSRYSTKSC MSRRSRAKSC GYRSDCKESG KSGLRMRRKR
490 500 510 520 530 540
RASMLLKSSA DDTVEDQDIL QLAGLSLGQS SEESNEYISK PSLKSLPTTS ASKKYGEINR
550 560 570 580 590 600
YVTTGQYFGR GGSLSATNPD NFISKMMNQR KETPAPSKSS CKIKSRRSSA ASMCSSYVSG
610 620 630 640 650 660
VSRMRRRHRR KSFSHNKSLN IDSKLLTEIE IITSTFNSRC RIQDDRLTGS SGKEKLLADA
670 680 690 700 710 720
NKLQATLAAP SPAQQLTLNG GGPASTLSKP LKRGLKKRKL SEPLVDFAML SASASGTPNG
730 740 750 760 770 780
SGSSNGNTKR RHKKSQSNDS SSPDDHKLPL KKRHYLLTPG ERPPAEVAFA NGKLNAEAWA
790 800 810 820 830 840
AAAAAAKSTA STKSQAQFNA RSVKSALTPK KRHLLEQPTS VSGAGSSASN SPLRIVVDNN
850 860 870 880 890 900
SISGGKLLDI SPSSLCSLKQ QRRGGAAKQK VSAAKDLVQL QSPAGSYPPP GVFEPSVELE
910 920 930 940 950 960
IQIPLSKLNE SVITKAEVES PLLSALDIKE DTKKEVGQRV VETLLHKTGG NLLLKRKRKK
970 980 990 1000 1010 1020
INRTGFPTVR RKKRKVSVEQ QTTAVIDEHE PEFDPDDEPL QSLRETRSSN NVNVQAAPNP
1030 1040 1050 1060 1070 1080
PLDCERVPQA GEARETFVAR TNQKAPRLSV VALERLQRPQ TPARGRPRGR KPKNREQAEA
1090 1100 1110 1120 1130 1140
APQPPPKSEP EIRPAKKRGR QPKQPVLEEP PPTPPPQQKK NKMEPNIRLP DGIDPNTNFS
1150 1160 1170 1180 1190 1200
CKIRLKRRKN LEAGTQPKKE KPVQPVTVEE IPPEIPVSQE EIDAEAEAKR LDSIPTEHDP
1210 1220 1230 1240 1250 1260
LPASESHNPG PQDYASCSES SEDKASTTSL RKLSKVKKTY LVAGLFSNHY KQSLMPPPAK
1270 1280 1290 1300 1310 1320
VNKKPGLEEQ VGPASLLPPP PYCEKYLRRT EMDFELPYDI WWAYTNSKLP TRNVVPSWNY
1330 1340 1350 1360 1370 1380
RKIRTNVYAE SVRPNLAGFD HPTCNCKNQG EKSCLDNCLN RMVYTECSPS NCPAGEKCRN
1390 1400 1410 1420 1430 1440
QKIQRHAVAP GVERFMTADK GWGVRTKLPI AKGTYILEYV GEVVTEKEFK QRMASIYLND
1450 1460 1470 1480 1490 1500
THHYCLHLDG GLVIDGQRMG SDCRFVNHSC EPNCEMQKWS VNGLSRMVLF AKRAIEEGEE
1510 1520 1530 1540 1550 1560
LTYDYNFSLF NPSEGQPCRC NTPQCRGVIG GKSQRVKPLP AVEAKPSGEG LSGRNGRQRK
1570 1580 1590 1600 1610 1620
QKAKKHAQRQ AGKDISSAVA VAKLQPLSEK EKKLVRQFNT FLVRNFEKIR RCKAKRASDA
1630 1640 1650 1660 1670 1680
AATASSPALG TTNGDIPGRR PSTPSSPSLA AQISALCSPR NIKTRGLTQA VHDPELEKMA
1690 1700 1710 1720 1730 1740
KMAVVLRDIC SAMETLKMSD LLTTVSSKKK KPIKTTLSGK LGSTAATSKV EFRSIQAQVE
1750 1760 1770 1780 1790 1800
QGHYKTPQEF DDHMQQLFVE AKQQHGDDEG KEKALQSLKD SYEQQKIASY VQLVEILGDS
1810 1820 1830 1840 1850 1860
ESLQSFKPKE VLSSEEEPGK IAVKKSPGAK ERDSPIVPLK VTPPPLLPIE ASPDEDVIRC
1870 1880 1890 1900 1910 1920
ICGLYKDEGL MIQCSKCMVW QHTECTKADI DADNYQCERC EPREVDREIP LEEFTEEGHR
1930 1940 1950 1960 1970 1980
YYLSLMRGDL QVRQGDAVYV LRDIPIKDES GKVLPTKKHT YETIGAIDYQ ECDIFRVEHL
1990 2000 2010 2020 2030 2040
WKNELGKRFI FGHHFLRPHE TFHEPSRRFY PNEVVRVSLY EVVPIELVIG RCWVLDRTTF
2050 2060 2070 2080 2090 2100
CKGRPMECND EDHCYICELR VDKTARFFSK AKANHPACTK SYAFRKFPEK IKISKSYAPH
2110 2120 2130 2140 2150 2160
DVDPSLLKTR KQKTELDVGA GPTTMHKVSG RQEQHQAKMV GRKPRGISAP ADATAVHVVT
2170 2180 2190 2200 2210 2220
PVAPNKQMLK KRKSRLENVL ITMKLKCLDA QTAQEQPIDL SYLLSGRGAR QRKTQQSSSS
STANST