Descriptions

Huntingtin(Htt) yeast two-hybrid protein B (HYPB, which is known as SETD2), a histone methyltransferase, directly interacts with Htt and is involved in Huntington's disease pathology. The WW domain (2383-2430) of HYPB specifically interacts with the preceding polyproline (polyP) stretch to form a structural entity and this autoinhibitory structure provides an arena for allosterically regulating its interaction with Htt proline-rich region (PRR). The polyP region can be divided into two peptide segments: PP1 and PP2. PP2WW is predominantly in the closed state, effectively inhibiting the WW domain from interacting with other PRRs, such as Htt PRR. Thus, the interaction between the WW domain of HYPB and PRR of Htt is finely modulated intramolecularly by the polyP stretch.

Autoinhibitory domains (AIDs)

Target domain

2362-2395 (WW domain)

Relief mechanism

Partner binding

Assay

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for E9Q5F9

Entry ID Method Resolution Chain Position Source
AF-E9Q5F9-F1 Predicted AlphaFoldDB

120 variants for E9Q5F9

Variant ID(s) Position Change Description Diseaes Association Provenance
rs3389065783 41 F>L No EVA
rs3389065794 56 L>M No EVA
rs3389022415 77 S>N No EVA
rs3389080603 89 F>C No EVA
rs3400767801 92 A>S No EVA
rs3400128149 92 A>V No EVA
rs3400674279 94 S>C No EVA
rs3400812112 94 S>I No EVA
rs3400812084 95 N>I No EVA
rs3389022400 96 E>A No EVA
rs3400813088 96 E>D No EVA
rs3389022400 96 E>G No EVA
rs3399578637 98 Q>H No EVA
rs3400466256 98 Q>R No EVA
rs3389077480 104 S>P No EVA
rs3389080606 105 P>Q No EVA
rs236843517 201 S>T No EVA
rs3547520247 236 V>G No EVA
rs579701642 243 P>L No EVA
rs3389080524 362 E>* No EVA
rs3389065727 366 K>T No EVA
rs3389076556 368 S>* No EVA
rs3389087282 466 Y>C No EVA
rs3389053614 498 E>* No EVA
rs216993874 511 T>S No EVA
rs3389087215 528 K>T No EVA
rs33296450 646 R>H No EVA
rs3389079767 660 D>V No EVA
rs3389086618 664 N>K No EVA
rs236333626 693 I>V No EVA
rs262385961 697 S>C No EVA
rs248767446 714 M>I No EVA
rs3547543113 724 G>D No EVA
rs3389053549 753 S>P No EVA
rs254409620 778 V>A No EVA
rs33296452 792 I>R No EVA
rs221833345 805 A>T No EVA
rs243908498 809 A>V No EVA
rs265441172 811 T>K No EVA
rs265441172 811 T>M No EVA
rs33297304 813 S>P No EVA
rs258576191 815 H>N No EVA
rs242397952 828 I>T No EVA
rs212919228 837 R>Q No EVA
rs251711002 849 S>N No EVA
rs3400106701 920 D>E No EVA
rs3389086675 953 E>V No EVA
rs47670880 954 R>G No EVA
rs3400767866 992 D>H No EVA
rs3389073196 1001 D>G No EVA
rs3389045039 1023 S>G No EVA
rs3389070691 1030 S>C No EVA
rs246489985 1079 R>H No EVA
rs3400341182 1082 D>E No EVA
rs263079703 1094 E>K No EVA
rs3389053628 1112 T>I No EVA
rs224877194 1115 S>N No EVA
rs240325542 1118 S>T No EVA
rs3389082948 1122 Q>H No EVA
rs259289085 1137 A>S No EVA
rs3413128276 1139 S>C No EVA
rs3389080549 1156 G>D No EVA
rs108875979 1161 E>G No EVA
rs3389076379 1187 K>N No EVA
rs3389045032 1224 S>T No EVA
rs3400577936 1232 G>W No EVA
rs1135201745 1289 P>S No EVA
rs3389053597 1291 T>I No EVA
rs215949324 1354 A>S No EVA
rs247879352 1405 M>V No EVA
rs3413120404 1412 V>M No EVA
rs3389076358 1413 P>S No EVA
rs3389087193 1453 N>I No EVA
rs3389082985 1455 Y>* No EVA
rs3389086667 1464 S>T No EVA
rs3400720286 1465 H>Q No EVA
rs3400664706 1465 H>R No EVA
rs3400577846 1466 R>W No EVA
rs3400813087 1468 I>F No EVA
rs3389065732 1495 L>R No EVA
rs3389057193 1610 E>G No EVA
rs3389057193 1610 E>V No EVA
rs3389079835 1626 T>I No EVA
rs3389073190 1639 D>E No EVA
rs3389076429 1734 N>I No EVA
rs3400577965 1737 S>P No EVA
rs3389087221 1835 S>T No EVA
rs226849286 1842 M>V No EVA
rs3400720219 1900 Q>L No EVA
rs3547586082 1912 V>I No EVA
rs255063098 1925 T>I No EVA
rs3389077444 1927 E>Q No EVA
rs212199488 1932 T>M No EVA
rs3389076361 2017 D>Y No EVA
rs33294109 2018 A>P No EVA
rs255243667 2042 S>P No EVA
rs3389073240 2067 R>G No EVA
rs3389080551 2093 E>* No EVA
rs3389045109 2114 M>I No EVA
rs3389076622 2167 M>L No EVA
rs262734318 2188 E>D No EVA
rs3389076377 2189 S>Y No EVA
rs586363929 2193 P>A No EVA
rs247244391 2199 V>A No EVA
rs3389087190 2201 H>L No EVA
rs235993875 2236 G>A No EVA
rs586117337 2247 E>D No EVA
rs33294955 2249 N>S No EVA
rs3389065799 2263 Q>H No EVA
rs3389057220 2265 Q>L No EVA
rs214690737 2280 S>G No EVA
rs3389065770 2311 T>I No EVA
rs3389065770 2311 T>R No EVA
rs13473703 2321 P>L No EVA
rs244780685 2322 T>S No EVA
rs3389080611 2329 V>I No EVA
rs3389077427 2335 Q>R No EVA
rs3547568382 2458 C>S No EVA
rs3547633153 2527 V>I No EVA
rs1134948792 2538 E>C No EVA

No associated diseases with E9Q5F9

6 regional properties for E9Q5F9

Type Name Position InterPro Accession
domain WW domain 2362 - 2395 IPR001202
domain SET domain 1524 - 1647 IPR001214
domain Post-SET domain 1648 - 1664 IPR003616
domain AWS domain 1468 - 1523 IPR006560
domain Set2 Rpb1 interacting domain 2448 - 2529 IPR013257
domain SETD2/Set2, SET domain 1523 - 1664 IPR044437

Functions

Description
EC Number 2.1.1.359 Methyltransferases
Subcellular Localization
  • Nucleus
  • Chromosome
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

2 GO annotations of cellular component

Name Definition
chromosome A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information.
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.

5 GO annotations of molecular function

Name Definition
alpha-tubulin binding Binding to the microtubule constituent protein alpha-tubulin.
histone H3K36 methyltransferase activity Catalysis of the reaction
histone H3K36 trimethyltransferase activity Catalysis of the reaction
metal ion binding Binding to a metal ion.
protein-lysine N-methyltransferase activity Catalysis of the transfer of a methyl group from S-adenosyl-L-methionine to the epsilon-amino group of a lysine residue in a protein substrate.

34 GO annotations of biological process

Name Definition
angiogenesis Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels.
cell migration involved in vasculogenesis The orderly movement of a cell from one site to another that will contribute to the differentiation of an endothelial cell that will form de novo blood vessels and tubes.
coronary vasculature morphogenesis The process in which the anatomical structures of blood vessels of the heart are generated and organized. The blood vessel is the vasculature carrying blood.
defense response to virus Reactions triggered in response to the presence of a virus that act to protect the cell or organism.
embryonic cranial skeleton morphogenesis The process in which the anatomical structures of the cranial skeleton are generated and organized during the embryonic phase.
embryonic organ development Development, taking place during the embryonic phase, of a tissue or tissues that work together to perform a specific function or functions. Development pertains to the process whose specific outcome is the progression of a structure over time, from its formation to the mature structure. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions.
embryonic placenta morphogenesis The process in which the embryonic placenta is generated and organized.
endodermal cell differentiation The process in which a relatively unspecialized cell acquires the specialized features of an endoderm cell, a cell of the inner of the three germ layers of the embryo.
forebrain development The process whose specific outcome is the progression of the forebrain over time, from its formation to the mature structure. The forebrain is the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions).
mesoderm morphogenesis The process in which the anatomical structures of the mesoderm are generated and organized.
microtubule cytoskeleton organization involved in mitosis Any microtubule cytoskeleton organization that is involved in mitosis.
mismatch repair A system for the correction of errors in which an incorrect base, which cannot form hydrogen bonds with the corresponding base in the parent strand, is incorporated into the daughter strand. The mismatch repair system promotes genomic fidelity by repairing base-base mismatches, insertion-deletion loops and heterologies generated during DNA replication and recombination.
morphogenesis of a branching structure The process in which the anatomical structures of branches are generated and organized. A branch is a division or offshoot from a main stem. Examples in animals would include blood vessels, nerves, lymphatics and other endothelial or epithelial tubes.
neural tube closure The last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline.
nucleosome organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of one or more nucleosomes.
peptidyl-lysine trimethylation The methylation of peptidyl-lysine to form peptidyl-N6,N6,N6-trimethyl-L-lysine.
pericardium development The process whose specific outcome is the progression of the pericardium over time, from its formation to the mature structure. The pericardium is a double-walled sac that contains the heart and the roots of the aorta, vena cava and the pulmonary artery.
positive regulation of autophagy Any process that activates, maintains or increases the rate of autophagy. Autophagy is the process in which cells digest parts of their own cytoplasm.
positive regulation of interferon-alpha production Any process that activates or increases the frequency, rate, or extent of interferon-alpha production.
positive regulation of ossification Any process that activates or increases the frequency, rate or extent of ossification, the formation of bone or of a bony substance or the conversion of fibrous tissue or of cartilage into bone or a bony substance.
regulation of cytokinesis Any process that modulates the frequency, rate or extent of the division of the cytoplasm of a cell and its separation into two daughter cells.
regulation of DNA-templated transcription Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.
regulation of double-strand break repair via homologous recombination Any process that modulates the frequency, rate or extent of the error-free repair of a double-strand break in DNA in which the broken DNA molecule is repaired using homologous sequences.
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).
regulation of mRNA export from nucleus Any process that modulates the frequency, rate or extent of the directed movement of mRNA from the nucleus to the cytoplasm.
regulation of protein localization to chromatin Any process that modulates the frequency, rate or extent of protein localization to chromatin.
response to alkaloid Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an alkaloid stimulus. Alkaloids are a large group of nitrogenous substances found in naturally in plants, many of which have extracts that are pharmacologically active.
response to metal ion Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a metal ion stimulus.
response to organic cyclic compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic cyclic compound stimulus.
response to type I interferon Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a type I interferon stimulus. Type I interferons include the interferon-alpha, beta, delta, episilon, zeta, kappa, tau, and omega gene families.
stem cell development The process whose specific outcome is the progression of the stem cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to its specific fate.
stem cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a stem cell. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells.
transcription elongation by RNA polymerase II The extension of an RNA molecule after transcription initiation and promoter clearance at an RNA polymerase II promoter by the addition of ribonucleotides catalyzed by RNA polymerase II.
vasculogenesis The differentiation of endothelial cells from progenitor cells during blood vessel development, and the de novo formation of blood vessels and tubes.

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9BYW2 SETD2 Histone-lysine N-methyltransferase SETD2 Homo sapiens (Human) EV
10 20 30 40 50 60
MKPLPSQQPP PKMGDFYDPE HPTPEEEENE AKIENVQKTG FIKGPVFKGV ASSRFLPKGT
70 80 90 100 110 120
KTKVNLEEQG RQKVSFSFSF TKKTLQNRFL TALSNEKQSD SPNSPAPPLQ VDSNPKVKMD
130 140 150 160 170 180
AGDTFPATEE SSPPKSRVEL GRIHFKKHLL HVTSRPQLAA STTAASPLPP TTQLPAVLAE
190 200 210 220 230 240
SMIDSPPSSP PPPPPPPQAS SPSPPAQISE PVALPQPPAT ALMTSPPGPL PGDVAVRAQK
250 260 270 280 290 300
ESPVKSGPEV LEVDTKQDIV SNSLEEHTVQ TLKEQADHLL QKEDSHIGKE EEVSDGSKIS
310 320 330 340 350 360
LSSKKASSKK KSSQFEGTFL GSESDEDSVR TSSSQRSHDL KSSTSIDKER DFKKSSAPSK
370 380 390 400 410 420
SEDLGKSSRS KTERDDRYCS YSKLERDTRY VSSRCRSERD RRRSRSRSRS DRASRTSLSY
430 440 450 460 470 480
SRSERSHYYD SERRYHRSSP YRERTRYSRP YTDNRARESS DSEDEYKKTY PRRTSAHSYR
490 500 510 520 530 540
DLRTSSSYSK FDRDCKTETS YLEMERRGKY TSKLERESKR TSEHETIKRC CSPPNELGFR
550 560 570 580 590 600
RGSSYSKHDN STSRYKSALS KSISKNDKFK NSFCCTELNE ENKQSHSFSL QTPCSKGSEL
610 620 630 640 650 660
RTINKISERE KTGSPTPSNQ LNDSPTFKKL DESPVLKPEF IGHDGRESIK ELELSKVKND
670 680 690 700 710 720
QLRNFCSIEL NVNGSPETEA DVATFCTSKT DAISMTSDDS VTGSEVSPLI KACMLSSNGF
730 740 750 760 770 780
QNVGRCRERD SDDTCRQHNT SKSPFREMEP LLSPHHDKLM SLPVKTIDYP KTLIKEPVDK
790 800 810 820 830 840
RHSCCKTKDS DIYCSPNENP EAENAEPSAM TISSHSFVNV HLESKTVICD NREPTDRHSE
850 860 870 880 890 900
NTCDEYKQSI GSTSSASHNH FDGLYEPIGS SGISSLQSPP SGIRCEENTS PTLDAVESKK
910 920 930 940 950 960
GIDFLKYARK ETDVGSALPD SGKGFSWENR HNNVLSGQSL QEAQEEGNSI LHERRGRPEI
970 980 990 1000 1010 1020
PLDEEQRGHT HISDDSEVVF PYDLNLTMED SDGITYTLKC DSSGNAPEIV STVHEDYSGS
1030 1040 1050 1060 1070 1080
SASSSDESDS EDTESDDSSI PRNRLQSVVV VPKNSTLPME ETSPCSSRSS QSYKHYSDRW
1090 1100 1110 1120 1130 1140
EDGLETRRHA YEEEYESKGC SQTEKYFLHK GTERSAESCY SQFGRKADNH LPDIAHAQSD
1150 1160 1170 1180 1190 1200
GVDSTSQTDS RSDHLGHLNP EDTLRAKTSR PQELPVYSDD FEDLPNKSRQ QMIFSNRPDS
1210 1220 1230 1240 1250 1260
SRLGKTELSF SSSCDISRMD GLHSSEELRN LGWDFSQQER PTTTYQQPDS SYGTCGTHKY
1270 1280 1290 1300 1310 1320
QQSTEHYGGT HNYWQGNGYW DPRSAGRPPG TGLAYDRIQG QVPDSLTDDR EEEEHWDQRS
1330 1340 1350 1360 1370 1380
GSHFSSPSNK FFFHQKDKGS VQAPEISSNS IKDALVMNER KDFSKNFEKN DIKERGPPKK
1390 1400 1410 1420 1430 1440
RRQELESDSE SDGELQARKK VRVEMEQGES SVPQHSELMG PSCAMDDFRD PQRWKEFAKL
1450 1460 1470 1480 1490 1500
GKMPCYFDLI EENVYLTERK KNKSHRDIKR MQCECTPLSK DERAQGEVAC GEDCLNRLLM
1510 1520 1530 1540 1550 1560
IECSSRCPNG DYCSNRRFQR KQHADVEVIL TEKKGWGLRA AKDLPSNTFV LEYCGEVLDH
1570 1580 1590 1600 1610 1620
KEFKARVKEY ARNKNIHYYF MALKNDEIID ATQKGNCSRF MNHSCEPNCE TQKWTVNGQL
1630 1640 1650 1660 1670 1680
RVGFFTTKLV PSGSELTFDY QFQRYGKEAQ KCFCGSANCR GYLGGENRVS IRAAGGKMKK
1690 1700 1710 1720 1730 1740
ERSRKKDSVD GELEALMENG EGLSDKNQVL SLSRLMVRIE TLEQKLTCLK LIQNTHSQSC
1750 1760 1770 1780 1790 1800
LKSFLERHGL SLLWIWMAEL GDGRESNQKL QEEIIKTLEH LPIPTKNMLE ESKVLPIIQR
1810 1820 1830 1840 1850 1860
WSQTKTAVPQ LSEGDGYSSE NTSRAHTPLN TPDPSAKPST EMDTDTPKKL IFRRLKIISE
1870 1880 1890 1900 1910 1920
NSMDSAVSDV TSELECKDGK EDLDQLETVT VEEDEELQSQ QLLPQQLCES KVESEATIEV
1930 1940 1950 1960 1970 1980
SKLPTSEPEA DTETEPKDSN GTKLEETIAE ETPSQDEEEG VSDVESERSQ EPPDKTVDIS
1990 2000 2010 2020 2030 2040
DLATKLLDSW KDLKEVYRIP KKSQTEKEST VAERGRDAAA FRDQTAPKTP NRSRERDPDK
2050 2060 2070 2080 2090 2100
QSQNKEKRKR RGSLSPPSSA YERGTKRPDD RYDTPTSKKK VRIKDRNKLS TEERRKLFEQ
2110 2120 2130 2140 2150 2160
EVAQREAQKQ QQQMQNLGMT SPLPFDSLGY NASHHPFAGY PPGYPMQAYV DPSNPNAGKV
2170 2180 2190 2200 2210 2220
LLPTPSMDPV CSPAPYDHAQ PLVGHSTESL AAPPSVPVVP HVAASVEVSS SQYVAQNESV
2230 2240 2250 2260 2270 2280
VHQDSNVPVM PVQAPGPVQG QNYNVWESNQ QSVSVQQQYS PAQSQTTIYY QGQTCSTVYS
2290 2300 2310 2320 2330 2340
VTSPYSQTTP PIVQSYAQPS LQYIQGQQIF TAHPQGVVVQ PTAAVTSIVA PGQPQSLQPP
2350 2360 2370 2380 2390 2400
EMVVTNNLLD LPPPSPPKPK TIVLPPNWKT ARDPEGKIYY YHVITRQTQW DPPTWESPGD
2410 2420 2430 2440 2450 2460
DASLEHEAEM DLGTPTYDEN PMKTSKKPKT AEADTSSELA KKSKEVFRKE MSQFIVQCLN
2470 2480 2490 2500 2510 2520
PYRKPDCKVG RITTTEDFKH LARKLTHGVM NKELKYCKNP EDLECNENVK HKTKEYIKKY
2530
MQKFGAVYKP KEDTELE