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)

Target domain

2135-2257 (SET domain)

Relief mechanism

Partner binding

Assay

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

0 structures for Q99MY8

Entry ID Method Resolution Chain Position Source

154 variants for Q99MY8

Variant ID(s) Position Change Description Diseaes Association Provenance
rs3388622330 13 S>A No EVA
rs3388632399 32 A>G No EVA
rs238260170 37 A>V No EVA
rs3388638196 46 E>D No EVA
rs30953299 51 R>W No EVA
rs3388629336 116 K>R No EVA
rs3393108355 162 I>F No EVA
rs252286250 163 H>Y No EVA
rs3388637390 220 Q>P No EVA
rs3388641533 238 L>F No EVA
rs3388641594 259 S>F No EVA
rs3388630062 263 I>L No EVA
rs3388641563 267 D>N No EVA
rs3388630057 267 D>V No EVA
rs3388640145 316 N>K No EVA
rs3388637896 330 G>E No EVA
rs3388637406 332 L>Q No EVA
rs3388643923 338 K>* No EVA
rs3388637868 368 K>I No EVA
rs3388637826 372 K>R No EVA
rs3388635349 382 A>T No EVA
rs3388641560 386 T>M No EVA
rs3388637369 387 K>E No EVA
rs219178774 445 N>H No EVA
rs234459045 447 D>E No EVA
rs3411224993 450 E>D No EVA
rs3388637889 455 L>P No EVA
rs3388641538 470 R>W No EVA
rs3388622331 493 M>V No EVA
rs3388642143 543 K>N No EVA
rs32918722 547 S>N No EVA
rs32919385 566 V>I No EVA
rs3388643862 572 E>A No EVA
rs3388638119 576 Q>H No EVA
rs3388637841 620 S>I No EVA
rs3388630049 633 N>I No EVA
rs32919388 637 N>S No EVA
rs3388641547 642 I>N No EVA
rs3393255659 690 D>N No EVA
rs3388643917 712 K>I No EVA
rs3388637886 718 W>* No EVA
rs3388641586 718 W>R No EVA
rs3388641569 741 F>L No EVA
rs232673272 742 K>N No EVA
rs252204590 756 A>V No EVA
rs3388629990 790 L>P No EVA
rs3388637431 791 L>* No EVA
rs3388637833 796 K>R No EVA
rs3388632334 797 P>T No EVA
rs3388622374 838 E>K No EVA
rs230887703 844 T>S No EVA
rs3393364257 847 I>M No EVA
rs3388629317 880 S>T No EVA
rs3388629358 887 K>Q No EVA
rs3541550374 895 M>V No EVA
rs3393328439 916 S>R No EVA
rs3388637389 985 N>I No EVA
rs3388642183 985 N>K No EVA
rs3388643180 1011 K>I No EVA
rs3388622301 1016 L>I No EVA
rs3388643927 1047 K>R No EVA
rs3388642110 1048 R>S No EVA
rs3388630082 1059 G>R No EVA
rs3388645223 1062 S>F No EVA
rs3388642119 1125 F>S No EVA
rs3388641603 1133 Y>F No EVA
rs3393108385 1135 H>P No EVA
rs3393255634 1136 V>A No EVA
rs3393364275 1138 S>Y No EVA
rs3393348932 1139 R>* No EVA
rs3393289734 1139 R>K No EVA
rs3388642169 1168 S>F No EVA
rs3393331143 1197 S>N No EVA
rs3393364036 1198 D>A No EVA
rs3393120609 1199 S>T No EVA
rs3393289718 1200 G>V No EVA
rs3393348868 1201 I>T No EVA
rs3388641578 1206 N>I No EVA
rs3388637875 1259 S>N No EVA
rs3388642168 1293 I>K No EVA
rs3388642159 1303 H>P No EVA
rs3388643889 1305 S>N No EVA
rs3388637355 1315 P>S No EVA
rs3388629344 1327 T>A No EVA
rs3388635772 1331 F>C No EVA
rs3388640064 1356 E>D No EVA
rs3388640107 1391 A>S No EVA
rs226549855 1619 S>G No EVA
rs244849700 1653 A>S No EVA
rs32915864 1668 S>F No EVA
rs32920697 1697 P>S No EVA
rs30453465 1706 S>C No EVA
rs3388629343 1716 Q>H No EVA
rs13461590 1729 K>* No EVA
rs3388635722 1764 V>M No EVA
rs3388640076 1769 N>K No EVA
rs3388645215 1772 C>Y No EVA
rs262392582 1773 S>N No EVA
rs223579216 1782 S>L No EVA
rs3388643872 1839 N>D No EVA
rs32921395 1870 S>N No EVA
rs3393432360 1871 P>L No EVA
rs265363860 1902 T>N No EVA
rs229529869 1909 V>L No EVA
rs3388635749 1932 E>A No EVA
rs3388643853 2057 K>E No EVA
rs3388635393 2080 G>S No EVA
rs3388635307 2087 N>I No EVA
rs3388634762 2091 P>Q No EVA
rs3388637415 2092 D>E No EVA
rs258175779 2092 D>H No EVA
rs3388629383 2111 E>V No EVA
rs3388635768 2162 I>V No EVA
rs3393320238 2177 R>S No EVA
rs3388638162 2245 E>D No EVA
rs3388634818 2258 E>D No EVA
rs3388629387 2264 K>T No EVA
rs3388629995 2283 G>* No EVA
rs3388634760 2289 G>D No EVA
rs3541593748 2289 G>S No EVA
rs32920628 2303 K>E No EVA
rs3388629391 2318 H>R No EVA
rs3388638121 2328 N>K No EVA
rs3388645228 2336 Q>H No EVA
rs3388634773 2362 E>G No EVA
rs3388635778 2406 S>Y No EVA
rs3393291312 2408 L>R No EVA
rs3393257171 2408 L>V No EVA
rs3393257159 2410 T>R No EVA
rs3393206799 2411 A>T No EVA
rs3388643924 2412 R>S No EVA
rs3388641588 2414 V>I No EVA
rs3388635348 2425 N>S No EVA
rs3388634796 2426 L>M No EVA
rs3388629393 2444 G>V No EVA
rs32920878 2455 T>A No EVA
rs3388635319 2484 T>I No EVA
rs3388635319 2484 T>S No EVA
rs3388640147 2495 K>R No EVA
rs3388629334 2508 F>S No EVA
rs3413106497 2533 Y>N No EVA
rs3393374093 2546 I>M No EVA
rs3388637877 2546 I>V No EVA
rs3388622304 2577 C>R No EVA
rs3388638177 2579 C>Y No EVA
rs3388640096 2587 L>I No EVA
rs3388640093 2600 C>R No EVA
rs3388622338 2601 D>A No EVA
rs3388637873 2627 P>S No EVA
rs3388638141 2725 F>L No EVA
rs3393121244 2745 V>F No EVA
rs3388638176 2781 H>Y No EVA
rs3388640101 2825 N>S No EVA
rs864265889 2833 S>P No EVA

No associated diseases with Q99MY8

2 regional properties for Q99MY8

Type Name Position InterPro Accession
domain Ubiquitin-like domain 19 - 96 IPR000626
domain Rad60/SUMO-like domain 21 - 91 IPR022617

Functions

Description
EC Number 2.1.1.359 Methyltransferases
Subcellular Localization
  • Nucleus
  • Cell junction, tight junction
  • Chromosome
  • The relevance of tight junction localization is however unclear
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

4 GO annotations of cellular component

Name Definition
bicellular tight junction An occluding cell-cell junction that is composed of a branching network of sealing strands that completely encircles the apical end of each cell in an epithelial sheet; the outer leaflets of the two interacting plasma membranes are seen to be tightly apposed where sealing strands are present. Each sealing strand is composed of a long row of transmembrane adhesion proteins embedded in each of the two interacting plasma membranes.
chromosome A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information.
Golgi apparatus A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.

8 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.
DNA binding Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
histone H3K36 trimethyltransferase activity Catalysis of the reaction
histone H3K4 methyltransferase activity Catalysis of the reaction
histone H3K9 methyltransferase activity Catalysis of the reaction
histone H3K9 monomethyltransferase activity Catalysis of the reaction
histone H3K9me2 methyltransferase activity Catalysis of the reaction
metal ion binding Binding to a metal ion.

19 GO annotations of biological process

Name Definition
decidualization The cellular and vascular changes occurring in the endometrium of the pregnant uterus just after the onset of blastocyst implantation. This process involves the proliferation and differentiation of the fibroblast-like endometrial stromal cells into large, polyploid decidual cells that eventually form the maternal component of the placenta.
flagellated sperm motility The directed, self-propelled movement of a cilium (aka flagellum) that contributes to the movement of a flagellated sperm.
inflammatory response The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.
MAPK cascade An intracellular protein kinase cascade containing at least a MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tiers
methylation The process in which a methyl group is covalently attached to a molecule.
negative regulation of acute inflammatory response Any process that stops, prevents, or reduces the frequency, rate, or extent of an acute inflammatory response.
negative regulation of inflammatory response Any process that stops, prevents, or reduces the frequency, rate or extent of the inflammatory response.
negative regulation of MAPK cascade Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction mediated by the MAPKKK cascade.
positive regulation of transcription by RNA polymerase II Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
post-embryonic development The process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. See embryonic development.
regulation of DNA-templated transcription Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.
regulation of gene expression Any process that modulates 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).
sebaceous gland development The process whose specific outcome is the progression of the sebaceous gland over time, from its formation to the mature structure.
single fertilization The union of male and female gametes to form a zygote.
skeletal system development The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton).
tarsal gland development The process whose specific outcome is the progression of a tarsal gland over time, from its formation to the mature structure.
transcription by RNA polymerase II The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs).
uterine gland development The process whose specific outcome is the progression of an uterine gland over time, from its formation to the mature structure.
uterus morphogenesis The process in which anatomical structures of the uterus are generated and organized.

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9VW15 ash1 Histone-lysine N-methyltransferase ash1 Drosophila melanogaster (Fruit fly) SS
Q9NR48 ASH1L Histone-lysine N-methyltransferase ASH1L Homo sapiens (Human) EV
10 20 30 40 50 60
MDPRNTAMLG LGSDSEGFSR KSPSTINPGT LASKREAEIE GATEEEDPRK RNRERGTEAG
70 80 90 100 110 120
KEDGSTDAQQ QFSVKETNFS EGNLKLKIGL QAKRTKKPPK NLENYVCRPA IKTTIKHSRK
130 140 150 160 170 180
ALKSGKMTDE KNEHCPSKWD SSKLFKKAGD ATAIDCQAEE SIHLHSQGES NPLSKKLSPV
190 200 210 220 230 240
HSQMADYISA APSLVGSRDP DIKDRALLNG GTSVTEKLAQ LIATCPPSKS SKAKPKKLGT
250 260 270 280 290 300
GTTVGLVSKD LIRKPGVGSI AGIIHKDLIK KPALSTAVGL VTKDPGKKPM FNAAVGLINK
310 320 330 340 350 360
DSVKKLGTGT TAVFINKDLG KKPGAITTVG LLSKESGKKL GIGIVPGLVN KESGKKLGLG
370 380 390 400 410 420
TVVGLVNKEL GKKLSSTVGL VAKDVTKKIV ASSAMGLVNK DIGKKLLNCP MAGQLGSKDA
430 440 450 460 470 480
LNLKSEALLP TQEQLKASCS ANISNHDSQE LPESLKDSAT GKAFEKSVMR HSKESMLEKF
490 500 510 520 530 540
SVRKEITNLE KEMFNEGTCI QQDNFSSSER GAFETSKHEK QPPVYCTSPD FQIGGASDAS
550 560 570 580 590 600
TAKSPFSAVG ESNLPSSSPT VSVNPVTRSP PEASSQLVPN PLLLNSTAEQ MEEISESIGK
610 620 630 640 650 660
SQFTAESTHL NVGHRSLGHS LSIECKGIDK ELNESKNTHL DIPRISSSLG KKPSLTSDSG
670 680 690 700 710 720
IHAITPSVVN FTSLFSNKPF LKLGAVTAPD KHCQVAESLS SSFQSKPLKK RKGRKPRWTK
730 740 750 760 770 780
VVARSTCRSP KGLDLERSEL FKNVSCSSLS NSSEPAKFMK TIGASSFVDH DFLKRRLPKL
790 800 810 820 830 840
SKSSAPSLAL LTDSEKPSHK SFITHKLSSS MCVTSDLLSD IYKPKRGRPK SKEMPQLEGP
850 860 870 880 890 900
PKRTLKIPAS KVFSLQSKEE QEPPILQPEI EIPSFKQSLS VSPFPKKRGR PKRQMRSPVK
910 920 930 940 950 960
MKPPVLSVAP FVATESPSKL ESESENHRSS SDFFESEDQL QDTDDLDDSH RQSVCSMSDL
970 980 990 1000 1010 1020
EMEPDKKISK RNNGQLMKTI IRKINKMKTL KRKKLLNQIL SSSVESSNKG KVQSKLHNTV
1030 1040 1050 1060 1070 1080
SSLAATFGSK LGQQINVSKK GTIYIGKRRG RKPKTVLNGL LSGSPASLAV LEQTAQQAAG
1090 1100 1110 1120 1130 1140
SALGQILPPL LPSPASSSEI LPSPICSQSS GTSGGQSPVS SDAGFVEPSS VPYLHVHSRQ
1150 1160 1170 1180 1190 1200
GSMIQTLAMK KASKGRRRLS PPTLLPNSPS HLSELTSLKE ATPSPVSESH SDETIPSDSG
1210 1220 1230 1240 1250 1260
IGTDNNSTSD RAEKFCGQKK RRHSFEHISL IPPETSTVLN SLKEKHKHKC KRRSHDYLSY
1270 1280 1290 1300 1310 1320
DKMKRQKRKR KKKYPQLRNR QDPDFIAELE ELISRLSEIR ITHRSHHFIP RDLLPTIFRI
1330 1340 1350 1360 1370 1380
NFNSFYTHPS FPLDPLHYIR KPDLKKKRGR PPKMREAMAE MPFMHSLSFP LSSTGFYPSY
1390 1400 1410 1420 1430 1440
GMPYSPSPLT AAPIGLGYYG RYPPTLYPPP PSPSFTTPLP PPSYMHAGHL LLNPTKYHKK
1450 1460 1470 1480 1490 1500
KHKLLRQEAF LTTSRTPLLS MSTYPSVPPE MAYGWMVEHK HRHRHKHREH RSEQPQVSMD
1510 1520 1530 1540 1550 1560
SGSSRSVLES LKRYRFGKDT VGDRYKHKEK HRCHMSCPHL SPSKNLINRE EQWVSREPSE
1570 1580 1590 1600 1610 1620
SSSLALGLQT PLQIDCSESS PSLSLGGFTP NSEPASSDEH MNLFTSAIGS CRVSNPNSSC
1630 1640 1650 1660 1670 1680
RKKLTDSPGL FPVQDTALNR PHRKEPLPSS ERAIQSLAGS QSASDKPSQR SSESTNCSPT
1690 1700 1710 1720 1730 1740
RKRSSSESTS STVNGVPSRS PRLVASMDDS VDSLLQRIVH HDEQESMEKN GDASITTVSA
1750 1760 1770 1780 1790 1800
PPSSSPGHSY SKERALGKSD SLLVPAVPND SCSNIPLLSE KSASRCSPHH IKRSVVEAMQ
1810 1820 1830 1840 1850 1860
RQARKMCNYD KILATKKNLD HVNKILKAKK LQRQARTGNN FVKRRPGRPR KCPLQAVVSM
1870 1880 1890 1900 1910 1920
QAFQAAQFVS PELNEGEDMS LHLSPDTVTD VIEAVVQSVN LTSEHKKGVK RKNWLLEEQT
1930 1940 1950 1960 1970 1980
RKKQKTVPEE EEQENNKSFI ETPVEIPSPL ETPAEPSEPE NTLQPVLALI PREKKAPRPP
1990 2000 2010 2020 2030 2040
KKKYQRAGLY SDVYKTIDPK SRLIQLKKEK LEYTPGEHEY GLFPAPIHVG KYLRQKRIDF
2050 2060 2070 2080 2090 2100
QLPYDILWQW KHNQLYKKPD VPLYKKIRSN VYVDVKPLSG YEATTCNCKK PDDDTRKGCG
2110 2120 2130 2140 2150 2160
DDCLNRMIFA ECSPNTCPCG EQCCNQRIQR HEWVQCLERF RAEEKGWGIR TKEPLKAGQF
2170 2180 2190 2200 2210 2220
IIEYLGEVVS EQEFRNRMIE QYHNHSDHYC LNLDSGMVID SYRMGNEARF INHSCDPNCE
2230 2240 2250 2260 2270 2280
MQKWSVNGVY RIGLYALKDM PAGTELTYDY NFHSFNVEKQ QLCKCGFEKC RGIIGGKSQR
2290 2300 2310 2320 2330 2340
MNGLPSHKGS QSSSTHRKSA RAKEKRKSKH KLKKRKGHPS EEPSENINTP TRLTPQLQMK
2350 2360 2370 2380 2390 2400
PMSNRERNFV LKHHVFLVRN WEKIHQKQEE VKHTRDIHSA SLYTRWNGLC RDDGNIKSDV
2410 2420 2430 2440 2450 2460
FMTQFSALQT ARSVRTRRLA AAEENLEVAR AARLAQIFKE ICDGIISYRD SSQQTLAAPL
2470 2480 2490 2500 2510 2520
LNLPPKKKNA DYYEKISDPL DLSTIEKQIL IGYYKTVEAF DADMLKVFRN AEKYYGRKSP
2530 2540 2550 2560 2570 2580
IGRDVCRLRK AYYSARHEAS AQIDEIVGET ASEADSSETS VSEKESGHEK DDDVIRCICG
2590 2600 2610 2620 2630 2640
LYKDEGLMIQ CDKCMVWQHC DCMGVNTDVE HYLCEQCDPR PVDREVPMIP RPHYAQPGCV
2650 2660 2670 2680 2690 2700
YFICLLRDDL LLRQGDCVYL MRDSRRTPDG HPVRQSYRLL SHINRDKLDI FRIEKLWKNE
2710 2720 2730 2740 2750 2760
KEERFAFGHH YFRPHETHHS PSRRFYHNEL FRVPLYEIIP LEAVVGTCCV LDLYTYCKGR
2770 2780 2790 2800 2810 2820
PKGIKEQDVY ICDYRLDKSA HLFYKIHRNR YPVCTKPYAF DHFPKKLTPK RDFSPHYVPD
2830 2840 2850 2860 2870 2880
NYKRNGGRSS WKSERSKPPL KDLGQEDDAL PLIEEVLASQ EQAAREVPSP EEPDQERATG
2890 2900 2910 2920 2930 2940
DIGDAEKKPE ESSQEAQLAS TPEERRHSQR ERLNQILLNL LEKIPGKNAI DVTYLLEEGS
2950
GRKLRRRTLF IPENSFRK