Protein detail

KMT2D

Histone-lysine N-methyltransferase 2D (Lysine N-methyltransferase 2D) (EC 2.1.1.364) (ALL1-related protein) (Myeloid/lymphoid or mixed-lineage leukemia protein 2)

Protein symbol KMT2D	UniProt ID O14686	EVMP score 0.38
Frequency 1	Transmembrane count	Protein classification Cancer-related genesDisease related genesEnzymesHuman disease related genesMetabolic proteinsPotential drug targetsPredicted intracellular proteins

EVMP score: annotation confidence score.

Extremely high >= 0.85High >= 0.70Medium >= 0.55Low >= 0.40

Basic Information

Protein Names

Histone-lysine N-methyltransferase 2D (Lysine N-methyltransferase 2D) (EC 2.1.1.364) (ALL1-related protein) (Myeloid/lymphoid or mixed-lineage leukemia protein 2)

Protein Class

Cancer-related genesDisease related genesEnzymesHuman disease related genesMetabolic proteinsPotential drug targetsPredicted intracellular proteins

Protein Function

Cancer-related genes:Mutational cancer driver genes
Predicted intracellular proteins
ENZYME proteins:Transferases
Cancer-related genes:Mutated cancer genes
Potential drug targets
Enzymes
Human disease related genes:Cancers:Cancers of haematopoietic and lymphoid tissues
Disease related genes
Human disease related genes:Congenital malformations:Other congenital malformations

Ensembl

ENSG00000167548

Entrez Gene Symbol

KMT2D

Gene Synonym

ALRCAGL114MLL2MLL4TNRC21

Gene Description

Lysine methyltransferase 2D

Chromosome

Position

49018975-49060794

Frequency

EVMP Score

0.38

Fluorescence & Localization

Function & Pathway

Protein Function

Cancer-related genes:Mutational cancer driver genes
Predicted intracellular proteins
ENZYME proteins:Transferases
Cancer-related genes:Mutated cancer genes
Potential drug targets
Enzymes
Human disease related genes:Cancers:Cancers of haematopoietic and lymphoid tissues
Disease related genes
Human disease related genes:Congenital malformations:Other congenital malformations

Cellular Component

Molecular Function

Biological Process

KEGG

Reactome

Mediation Categories

Clinical-translation mediation

Relations & Evidence

Enzyme-Mediated Modification

3 records.

Substrate Gene Symbol	Enzyme Gene Symbol	Enzyme UniProt ID	Residue Type	Residue Offset	Modification	Database
KMT2D	SGK1	O00141	S	1,331	phosphorylation	PhosphoSite
KMT2D	CDK2	P24941	T	5,374	phosphorylation	PhosphoSite_MIMPMIMPProtMapperPhosphoSitePhosphoSite_ProtMapper
KMT2D	AKT1	P31749	S	1,331	phosphorylation	PhosphoSite

Ligand-Receptor Signaling

7 records.

Category	Parent	Database	Transmitter	Receiver	Secreted	Plasma Membrane (Transmembrane)	Plasma Membrane (Peripheral)
receptor	receptor	OmniPath	No	Yes	No	No	No
intracellular	intracellular	LOCATE	No	No	No	No	No
intracellular	intracellular	ComPPI	No	No	No	No	No
intracellular	intracellular	GO_Intercell	No	No	No	No	No
intracellular	intracellular	UniProt_location	No	No	No	No	No
intracellular	intracellular	OmniPath	No	No	No	No	No
receptor	receptor	scConnect	No	Yes	No	No	No

Regulatory Interaction Network

139 records.

Source UniProt ID	Target Protein Symbol	Target UniProt ID	Is Directed	Is Stimulation	Is Inhibition	Database	References
COMPLEX:P60604_P62987	KMT2D	O14686	Yes	Yes	No	SIGNOR	SIGNOR:34199813
COMPLEX:P0CG48_P61086	KMT2D	O14686	Yes	Yes	No	SIGNOR	SIGNOR:34199813
COMPLEX:P62987_Q5JXB2	KMT2D	O14686	Yes	Yes	No	SIGNOR	SIGNOR:34199813
COMPLEX:P51965_P62979	KMT2D	O14686	Yes	Yes	No	SIGNOR	SIGNOR:34199813
COMPLEX:P0CG47_Q9Y385	KMT2D	O14686	Yes	Yes	No	SIGNOR	SIGNOR:34199813
COMPLEX:P62987_Q969T4	KMT2D	O14686	Yes	Yes	No	SIGNOR	SIGNOR:34199813
COMPLEX:P0CG47_P61086	KMT2D	O14686	Yes	Yes	No	SIGNOR	SIGNOR:34199813
COMPLEX:P0CG48_Q15819	KMT2D	O14686	Yes	Yes	No	SIGNOR	SIGNOR:34199813
COMPLEX:P0CG47_Q96B02	KMT2D	O14686	Yes	Yes	No	SIGNOR	SIGNOR:34199813
COMPLEX:A0A1B0GUS4_P0CG48	KMT2D	O14686	Yes	Yes	No	SIGNOR	SIGNOR:34199813

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Protein Complex Composition

28 records.

Component Name	Component Gene Symbols	Component UniProt ID	Stoichiometry	Database	Database IDs	References
HMT	ASH2L KMT2D WDR5	O14686 P61964 Q9UBL3	0:0:0	SIGNOR	SIGNOR:SIGNOR-C19
MLL1/2-COMPASS	ASH2L DPY30 HCFC1 HCFC2 KMT2A KMT2D MEN1 RBBP5 WDR5 WDR82	O00255 O14686 P51610 P61964 Q03164 Q15291 Q6UXN9 Q9C005 Q9UBL3 Q9Y5Z7	0:0:0:0:0:0:0:0:0:0	SPIKE
MLL2 complex	ASH2L DPY30 KMT2D RBBP5 SETD1A SETD1B WDR5	O14686 O15047 P61964 Q15291 Q9C005 Q9UBL3 Q9UPS6	0:0:0:0:0:0:0	SIGNOR	SIGNOR:SIGNOR-C88
MLL4 complex	ASH2L DPY30 KDM6A KMT2D NCOA6 PAGR1 PAXIP1 RBBP5 WDR5	O14686 O15550 P61964 Q14686 Q15291 Q6ZW49 Q9BTK6 Q9C005 Q9UBL3	1:1:1:1:1:1:1:1:1	CORUMComplexPortal	CORUM:6467intact:EBI-27096661PDB:4RIQPDB:4erqPDB:3uvk	23508102 17500065 31804488 26886794 14755292 22266653 25998713
PAX7/MLL2 complex	ASH2L DPY30 KMT2D PAX7 RBBP5 SETD1A SETD1B WDR5	O14686 O15047 P23759 P61964 Q15291 Q9C005 Q9UBL3 Q9UPS6	0:0:0:0:0:0:0:0	SIGNOR	SIGNOR:SIGNOR-C91
PITX2-MLL4-ASH2L-RBBP5-PTIP complex	ASH2L KMT2D PAXIP1 PITX2 RBBP5	O14686 Q15291 Q6ZW49 Q99697 Q9UBL3	0:0:0:0:0	CORUM	CORUM:6340	24486544
PTIP.com	ASH2L DPY30 KDM6A KMT2C KMT2D NCOA6 PAGR1 PAXIP1 RBBP5 WDR5	O14686 O15550 P61964 Q14686 Q15291 Q6ZW49 Q8NEZ4 Q9BTK6 Q9C005 Q9UBL3	1:1:1:1:1:1:1:1:1:1	Compleat	Compleat:HC384	17500065
Ub:RING_E3	KMT2D UBB	O14686 P0CG47	0:0	SIGNOR	SIGNOR:SIGNOR-C519
Ub:RING_E3	KMT2D UBC	O14686 P0CG48	0:0	SIGNOR	SIGNOR:SIGNOR-C519
Ub:RING_E3	KMT2D RPS27A	O14686 P62979	0:0	SIGNOR	SIGNOR:SIGNOR-C519

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Isolation & Detection Technology

1 record.

EV Isolation Method	Detection Method	Number of References	References
Differential Ultracentrifugation	Mass spectrometryR Sequencing	1	24769233

Sequence, Structure & Domains

Sequences

Length

5,537

Mass

593,389

Sequence

MDSQKLAGEDKDSEPAADGPAASEDPSATESDLPNPHVGEVSVLSSGSPRLQETPQDCSGGPVRRCALCNCGEPSLHGQRELRRFELPFDWPRCPVVSPGGSPGPNEAVLPSEDLSQIGFPEGLTPAHLGEPGGSCWAHHWCAAWSAGVWGQEGPELCGVDKAIFSGISQRCSHCTRLGASIPCRSPGCPRLYHFPCATASGSFLSMKTLQLLCPEHSEGAAYLEEARCAVCEGPGELCDLFFCTSCGHHYHGACLDTALTARKRAGWQCPECKVCQACRKPGNDSKMLVCETCDKGYHTFCLKPPMEELPAHSWKCKACRVCRACGAGSAELNPNSEWFENYSLCHRCHKAQGGQTIRSVAEQHTPVCSRFSPPEPGDTPTDEPDALYVACQGQPKGGHVTSMQPKEPGPLQCEAKPLGKAGVQLEPQLEAPLNEEMPLLPPPEESPLSPPPEESPTSPPPEASRLSPPPEELPASPLPEALHLSRPLEESPLSPPPEESPLSPPPESSPFSPLEESPLSPPEESPPSPALETPLSPPPEASPLSPPFEESPLSPPPEELPTSPPPEASRLSPPPEESPMSPPPEESPMSPPPEASRLFPPFEESPLSPPPEESPLSPPPEASRLSPPPEDSPMSPPPEESPMSPPPEVSRLSPLPVVSRLSPPPEESPLSPPPEESPTSPPPEASRLSPPPEDSPTSPPPEDSPASPPPEDSLMSLPLEESPLLPLPEEPQLCPRSEGPHLSPRPEEPHLSPRPEEPHLSPQAEEPHLSPQPEEPCLCAVPEEPHLSPQAEGPHLSPQPEELHLSPQTEEPHLSPVPEEPCLSPQPEESHLSPQSEEPCLSPRPEESHLSPELEKPPLSPRPEKPPEEPGQCPAPEELPLFPPPGEPSLSPLLGEPALSEPGEPPLSPLPEELPLSPSGEPSLSPQLMPPDPLPPPLSPIITAAAPPALSPLGELEYPFGAKGDSDPESPLAAPILETPISPPPEANCTDPEPVPPMILPPSPGSPVGPASPILMEPLPPQCSPLLQHSLVPQNSPPSQCSPPALPLSVPSPLSPIGKVVGVSDEAELHEMETEKVSEPECPALEPSATSPLPSPMGDLSCPAPSPAPALDDFSGLGEDTAPLDGIDAPGSQPEPGQTPGSLASELKGSPVLLDPEELAPVTPMEVYPECKQTAGQGSPCEEQEEPRAPVAPTPPTLIKSDIVNEISNLSQGDASASFPGSEPLLGSPDPEGGGSLSMELGVSTDVSPARDEGSLRLCTDSLPETDDSLLCDAGTAISGGKAEGEKGRRRSSPARSRIKQGRSSSFPGRRRPRGGAHGGRGRGRARLKSTASSIETLVVADIDSSPSKEEEEEDDDTMQNTVVLFSNTDKFVLMQDMCVVCGSFGRGAEGHLLACSQCSQCYHPYCVNSKITKVMLLKGWRCVECIVCEVCGQASDPSRLLLCDDCDISYHTYCLDPPLLTVPKGGWKCKWCVSCMQCGAASPGFHCEWQNSYTHCGPCASLVTCPICHAPYVEEDLLIQCRHCERWMHAGCESLFTEDDVEQAADEGFDCVSCQPYVVKPVAPVAPPELVPMKVKEPEPQYFRFEGVWLTETGMALLRNLTMSPLHKRRQRRGRLGLPGEAGLEGSEPSDALGPDDKKDGDLDTDELLKGEGGVEHMECEIKLEGPVSPDVEPGKEETEESKKRKRKPYRPGIGGFMVRQRKSHTRTKKGPAAQAEVLSGDGQPDEVIPADLPAEGAVEQSLAEGDEKKKQQRRGRKKSKLEDMFPAYLQEAFFGKELLDLSRKALFAVGVGRPSFGLGTPKAKGDGGSERKELPTSQKGDDGPDIADEESRGLEGKADTPGPEDGGVKASPVPSDPEKPGTPGEGMLSSDLDRISTEELPKMESKDLQQLFKDVLGSEREQHLGCGTPGLEGSRTPLQRPFLQGGLPLGNLPSSSPMDSYPGLCQSPFLDSRERGGFFSPEPGEPDSPWTGSGGTTPSTPTTPTTEGEGDGLSYNQRSLQRWEKDEELGQLSTISPVLYANINFPNLKQDYPDWSSRCKQIMKLWRKVPAADKAPYLQKAKDNRAAHRINKVQKQAESQINKQTKVGDIARKTDRPALHLRIPPQPGALGSPPPAAAPTIFIGSPTTPAGLSTSADGFLKPPAGSVPGPDSPGELFLKLPPQVPAQVPSQDPFGLAPAYPLEPRFPTAPPTYPPYPSPTGAPAQPPMLGASSRPGAGQPGEFHTTPPGTPRHQPSTPDPFLKPRCPSLDNLAVPESPGVGGGKASEPLLSPPPFGESRKALEVKKEELGASSPSYGPPNLGFVDSPSSGTHLGGLELKTPDVFKAPLTPRASQVEPQSPGLGLRPQEPPPAQALAPSPPSHPDIFRPGSYTDPYAQPPLTPRPQPPPPESCCALPPRSLPSDPFSRVPASPQSQSSSQSPLTPRPLSAEAFCPSPVTPRFQSPDPYSRPPSRPQSRDPFAPLHKPPRPQPPEVAFKAGSLAHTSLGAGGFPAALPAGPAGELHAKVPSGQPPNFVRSPGTGAFVGTPSPMRFTFPQAVGEPSLKPPVPQPGLPPPHGINSHFGPGPTLGKPQSTNYTVATGNFHPSGSPLGPSSGSTGESYGLSPLRPPSVLPPPAPDGSLPYLSHGASQRSGITSPVEKREDPGTGMGSSLATAELPGTQDPGMSGLSQTELEKQRQRQRLRELLIRQQIQRNTLRQEKETAAAAAGAVGPPGSWGAEPSSPAFEQLSRGQTPFAGTQDKSSLVGLPPSKLSGPILGPGSFPSDDRLSRPPPPATPSSMDVNSRQLVGGSQAFYQRAPYPGSLPLQQQQQQLWQQQQATAATSMRFAMSARFPSTPGPELGRQALGSPLAGISTRLPGPGEPVPGPAGPAQFIELRHNVQKGLGPGGTPFPGQGPPQRPRFYPVSEDPHRLAPEGLRGLAVSGLPPQKPSAPPAPELNNSLHPTPHTKGPTLPTGLELVNRPPSSTELGRPNPLALEAGKLPCEDPELDDDFDAHKALEDDEELAHLGLGVDVAKGDDELGTLENLETNDPHLDDLLNGDEFDLLAYTDPELDTGDKKDIFNEHLRLVESANEKAEREALLRGVEPGPLGPEERPPPAADASEPRLASVLPEVKPKVEEGGRHPSPCQFTIATPKVEPAPAANSLGLGLKPGQSMMGSRDTRMGTGPFSSSGHTAEKASFGATGGPPAHLLTPSPLSGPGGSSLLEKFELESGALTLPGGPAASGDELDKMESSLVASELPLLIEDLLEHEKKELQKKQQLSAQLQPAQQQQQQQQQHSLLSAPGPAQAMSLPHEGSSPSLAGSQQQLSLGLAGARQPGLPQPLMPTQPPAHALQQRLAPSMAMVSNQGHMLSGQHGGQAGLVPQQSSQPVLSQKPMGTMPPSMCMKPQQLAMQQQLANSFFPDTDLDKFAAEDIIDPIAKAKMVALKGIKKVMAQGSIGVAPGMNRQQVSLLAQRLSGGPSSDLQNHVAAGSGQERSAGDPSQPRPNPPTFAQGVINEADQRQYEEWLFHTQQLLQMQLKVLEEQIGVHRKSRKALCAKQRTAKKAGREFPEADAEKLKLVTEQQSKIQKQLDQVRKQQKEHTNLMAEYRNKQQQQQQQQQQQQQQHSAVLALSPSQSPRLLTKLPGQLLPGHGLQPPQGPPGGQAGGLRLTPGGMALPGQPGGPFLNTALAQQQQQQHSGGAGSLAGPSGGFFPGNLALRSLGPDSRLLQERQLQLQQQRMQLAQKLQQQQQQQQQQQHLLGQVAIQQQQQQGPGVQTNQALGPKPQGLMPPSSHQGLLVQQLSPQPPQGPQGMLGPAQVAVLQQQHPGALGPQGPHRQVLMTQSRVLSSPQLAQQGQGLMGHRLVTAQQQQQQQQHQQQGSMAGLSHLQQSLMSHSGQPKLSAQPMGSLQQLQQQQQLQQQQQLQQQQQQQLQQQQQLQQQQLQQQQQQQQLQQQQQQQLQQQQQQLQQQQQQQQQQFQQQQQQQQMGLLNQSRTLLSPQQQQQQQVALGPGMPAKPLQHFSSPGALGPTLLLTGKEQNTVDPAVSSEATEGPSTHQGGPLAIGTTPESMATEPGEVKPSLSGDSQLLLVQPQPQPQPSSLQLQPPLRLPGQQQQQVSLLHTAGGGSHGQLGSGSSSEASSVPHLLAQPSVSLGDQPGSMTQNLLGPQQPMLERPMQNNTGPQPPKPGPVLQSGQGLPGVGIMPTVGQLRAQLQGVLAKNPQLRHLSPQQQQQLQALLMQRQLQQSQAVRQTPPYQEPGTQTSPLQGLLGCQPQLGGFPGPQTGPLQELGAGPRPQGPPRLPAPPGALSTGPVLGPVHPTPPPSSPQEPKRPSQLPSPSSQLPTEAQLPPTHPGTPKPQGPTLEPPPGRVSPAAAQLADTLFSKGLGPWDPPDNLAETQKPEQSSLVPGHLDQVNGQVVPEASQLSIKQEPREEPCALGAQSVKREANGEPIGAPGTSNHLLLAGPRSEAGHLLLQKLLRAKNVQLSTGRGSEGLRAEINGHIDSKLAGLEQKLQGTPSNKEDAAARKPLTPKPKRVQKASDRLVSSRKKLRKEDGVRASEALLKQLKQELSLLPLTEPAITANFSLFAPFGSGCPVNGQSQLRGAFGSGALPTGPDYYSQLLTKNNLSNPPTPPSSLPPTPPPSVQQKMVNGVTPSEELGEHPKDAASARDSERALRDTSEVKSLDLLAALPTPPHNQTEDVRMESDEDSDSPDSIVPASSPESILGEEAPRFPHLGSGRWEQEDRALSPVIPLIPRASIPVFPDTKPYGALGLEVPGKLPVTTWEKGKGSEVSVMLTVSAAAAKNLNGVMVAVAELLSMKIPNSYEVLFPESPARAGTEPKKGEAEGPGGKEKGLEGKSPDTGPDWLKQFDAVLPGYTLKSQLDILSLLKQESPAPEPPTQHSYTYNVSNLDVRQLSAPPPEEPSPPPSPLAPSPASPPTEPLVELPTEPLAEPPVPSPLPLASSPESARPKPRARPPEEGEDSRPPRLKKWKGVRWKRLRLLLTIQKGSGRQEDEREVAEFMEQLGTALRPDKVPRDMRRCCFCHEEGDGATDGPARLLNLDLDLWVHLNCALWSTEVYETQGGALMNVEVALHRGLLTKCSLCQRTGATSSCNRMRCPNVYHFACAIRAKCMFFKDKTMLCPMHKIKGPCEQELSSFAVFRRVYIERDEVKQIASIIQRGERLHMFRVGGLVFHAIGQLLPHQMADFHSATALYPVGYEATRIYWSLRTNNRRCCYRCSIGENNGRPEFVIKVIEQGLEDLVFTDASPQAVWNRIIEPVAAMRKEADMLRLFPEYLKGEELFGLTVHAVLRIAESLPGVESCQNYLFRYGRHPLMELPLMINPTGCARSEPKILTHYKRPHTLNSTSMSKAYQSTFTGETNTPYSKQFVHSKSSQYRRLRTEWKNNVYLARSRIQGLGLYAAKDLEKHTMVIEYIGTIIRNEVANRREKIYEEQNRGIYMFRINNEHVIDATLTGGPARYINHSCAPNCVAEVVTFDKEDKIIIISSRRIPKGEELTYDYQFDFEDDQHKIPCHCGAWNCRKWMN

Alternative Products

Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O14686-1; Sequence=Displayed; Name=3; IsoId=O14686-3; Sequence=VSP_008560

Alternative Sequence

1729; E -> EGET (in isoform 3)

3D Structural Models

Turn

1508..1511; 1524..1526; 5445..5447; 5464..5466

Helix

1533..1535; 1540..1548; 1556..1560; 5339..5341; 5384..5398; 5433..5444; 5469..5472

Beta Strand

1516..1518; 1520..1522; 1529..1532; 5399..5403; 5405..5415; 5422..5425; 5428..5432; 5452..5454; 5456..5462; 5480..5488; 5491..5500; 5516..5520; 5534..5536

3D Structure

NMR spectroscopy (3); X-ray crystallography (3)

Domain & Motif Annotations

Compositional Bias

43..57; Polar residues; 440..473; Pro residues; 474..483; Low complexity; 494..509; Pro residues; 510..519; Low complexity; 520..547; Pro residues; 554..595; Pro residues; 596..607; Low complexity; 608..649; Pro residues; 650..662; Low complexity; 663..712; Pro residues; 713..725; Low complexity; 745..760; Basic and acidic residues; 845..869; Basic and acidic residues; 889..903; Low complexity; 911..928; Low complexity; 929..940; Pro residues; 941..954; Low complexity; 994..1008; Pro residues; 1048..1057; Low complexity; 1068..1080; Basic and acidic residues; 1207..1216; Polar residues; 1289..1302; Basic residues; 1310..1329; Basic residues; 1637..1666; Basic and acidic residues; 1675..1685; Basic and acidic residues; 1702..1712; Basic residues; 1753..1762; Basic residues; 1806..1825; Basic and acidic residues; 1832..1841; Basic and acidic residues; 1874..1889; Basic and acidic residues; 1979..1990; Low complexity; 2190..2209; Pro residues; 2280..2292; Basic and acidic residues; 2350..2365; Pro residues; 2379..2393; Pro residues; 2409..2431; Low complexity; 2494..2505; Low complexity; 2547..2560; Pro residues; 2574..2584; Polar residues; 2589..2609; Low complexity; 2610..2621; Pro residues; 2707..2722; Low complexity; 2733..2746; Polar residues; 2781..2790; Polar residues; 2931..2940; Pro residues; 3198..3209; Low complexity; 3263..3289; Low complexity; 3301..3320; Low complexity; 3325..3334; Pro residues; 3599..3612; Low complexity; 3631..3643; Low complexity; 4012..4023; Low complexity; 4024..4045; Polar residues; 4073..4108; Low complexity; 4111..4120; Gly residues; 4137..4154; Polar residues; 4237..4251; Polar residues; 4252..4282; Low complexity; 4283..4293; Pro residues; 4294..4305; Low complexity; 4320..4331; Low complexity; 4338..4357; Pro residues; 4619..4633; Pro residues; 4648..4673; Basic and acidic residues; 4828..4849; Basic and acidic residues; 4908..4931; Pro residues; 4932..4941; Low complexity; 4966..4976; Basic and acidic residues

Repeat

442..446; 1; 460..464; 2; 469..473; 3; 496..500; 4; 504..508; 5; 521..525; 6; 555..559; 7; 564..568; 8; 573..577; 9; 582..586; 10; 609..613; 11; 618..622; 12; 627..631; 13; 645..649; 14; 663..667; 15

Motif

2686..2690; LXXLL motif 1; 3038..3042; LXXLL motif 2; 4222..4226; LXXLL motif 3; 4253..4257; LXXLL motif 4; 4463..4467; LXXLL motif 5; 4990..4994; LXXLL motif 6; 5337..5342; WDR5 interaction motif (WIN)

Coiled Coil

2669..2707; 3249..3282; 3562..3614; 3714..3750; 3897..3975

Zinc Finger

104..149; C2HC pre-PHD-type 1; degenerate; 170..218; PHD-type 1; 226..276; PHD-type 2; 229..274; RING-type 1; atypical; 273..323; PHD-type 3; 276..321; RING-type 2; degenerate; 1377..1430; PHD-type 4; 1427..1477; PHD-type 5; 1504..1559; PHD-type 6; 1507..1557; RING-type 3; atypical; 5029..5069; C2HC pre-PHD-type 2; 5090..5137; PHD-type 7

Domain (CC)

LXXLL motifs 5 and 6 are essential for the association with ESR1 nuclear receptor.

Domain (FT)

5175..5235; FYR N-terminal; 5236..5321; FYR C-terminal; 5397..5513; SET; 5521..5537; Post-SET

Region

1..60; Disordered; 368..387; Disordered; 393..416; Disordered; 436..1331; Disordered; 439..668; 15 X 5 AA repeats of S/P-P-P-E/P-E/A; 1340..1359; Disordered; 1610..1767; Disordered; 1793..1889; Disordered; 1904..2002; Disordered; 2165..2683; Disordered; 2697..2814; Disordered; 2835..2996; Disordered; 3078..3110; Disordered; 3147..3209; Disordered; 3263..3339; Disordered; 3462..3499; Disordered; 3596..3673; Disordered; 3758..3802; Disordered; 3984..4191; Disordered; 4233..4398; Disordered; 4410..4452; Disordered; 4503..4544; Disordered; 4613..4727; Disordered; 4822..4857; Disordered; 4905..4980; Disordered

Protein Families

Class V-like SAM-binding methyltransferase superfamily
Histone-lysine methyltransferase family
TRX/MLL subfamily

Sequence Similarities

Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily.

Clinical Relevance

Disease Involvement

Cancer-related genesCongenital hypothyroidismDeafnessDisease variantIntellectual disability

Drugs

BICALUTAMIDE HDAC INHIBITOR REC-2282

Antibody

HPA035977

Interaction Protein

ENSG00000091831ENSG00000169083ENSG00000196363

Interaction Count

Interaction Dataset

intact_biogrid