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 | 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
Entrez Gene Symbol
Gene Synonym
ALRCAGL114MLL2MLL4TNRC21
Gene Description
Lysine methyltransferase 2D
Chromosome
12
Position
49018975-49060794
Frequency
1
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
- GO:0000976 transcription cis-regulatory region binding
- GO:0003677 DNA binding
- GO:0003713 transcription coactivator activity
- GO:0005515 protein binding
- GO:0042800 histone H3K4 methyltransferase activity
- GO:0046872 metal ion binding
- GO:0140945 histone H3K4 monomethyltransferase activity
- GO:0140999 histone H3K4 trimethyltransferase activity
Biological Process
Reactome
- R-hsa-5617472 activation of anterior hox genes in hindbrain development during early embryogenesis
- R-hsa-4839726 chromatin organization
- R-hsa-9675151 disorders of developmental biology
- R-hsa-9917777 epigenetic regulation by wdr5 containing histone modifying complexes
- R-hsa-212165 epigenetic regulation of gene expression
- R-hsa-9818564 epigenetic regulation of gene expression by mll3 and mll4 complexes
- R-hsa-9772755 formation of wdr5 containing histone modifying complexes
- R-hsa-9944971 loss of function of kmt2d in kabuki syndrome
- R-hsa-3214841 pkmts methylate histone lysines
- R-hsa-73857 rna polymerase ii transcription
- R-hsa-8936459 runx1 regulates genes involved in megakaryocyte differentiation and platelet function
- R-hsa-8878171 transcriptional regulation by runx1
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 | References |
|---|---|---|---|---|---|---|---|
| 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 Protein Symbol | Source UniProt ID | Target Protein Symbol | Target UniProt ID | Is Directed | Is Stimulation | Is Inhibition | Database | References |
|---|---|---|---|---|---|---|---|---|
| PAX7 | P23759 | KMT2D | O14686 | Yes | Yes | No | SIGNOR | SIGNOR:22863532 |
| SGK1 | O00141 | KMT2D | O14686 | Yes | No | Yes | Sparser_ProtMapperSIGNORProtMapperREACH_ProtMapperPhosphoSite | ProtMapper:30943409ProtMapper:31692833SIGNOR:30943409PhosphoSite:30943409 |
| KMT2D | O14686 | ESR1 | P03372 | Yes | Yes | No | HPRDSPIKE_LCSIGNOR | SPIKE_LC:16603732SPIKE_LC:17145710HPRD:16603732SIGNOR:16603732 |
| COMPLEX:P62987_Q13404 | KMT2D | O14686 | Yes | Yes | No | SIGNOR | SIGNOR:34199813 | |
| COMPLEX:P62987_Q16763 | KMT2D | O14686 | Yes | Yes | No | SIGNOR | SIGNOR:34199813 | |
| COMPLEX:P0CG47_P62256 | KMT2D | O14686 | Yes | Yes | No | SIGNOR | SIGNOR:34199813 | |
| COMPLEX:P0CG47_P60604 | KMT2D | O14686 | Yes | Yes | No | SIGNOR | SIGNOR:34199813 | |
| COMPLEX:P62253_P62987 | KMT2D | O14686 | Yes | Yes | No | SIGNOR | SIGNOR:34199813 | |
| COMPLEX:P0CG48_Q13404 | KMT2D | O14686 | Yes | Yes | No | SIGNOR | SIGNOR:34199813 | |
| COMPLEX:P0CG48_Q96B02 | KMT2D | O14686 | Yes | Yes | No | SIGNOR | SIGNOR:34199813 |
Page 1 of 14Next
Protein Complex Composition
28 records.
| Component Name | Component Gene Symbols | Component UniProt ID | Stoichiometry | Database | Database IDs | References |
|---|---|---|---|---|---|---|
| ATN1FAM199XKANSL1KDM6AKMT2AKMT2BKMT2DNCOA6PAXIP1REREWDR5 | O14686O15550P54259P61964Q03164Q14686Q6PEV8Q6ZW49Q7Z3B3Q9P2R6Q9UMN6 | 0:0:0:0:0:0:0:0:0:0:0 | hu.MAP | |||
| ASH2LCXXC1DPY30JMJD6KDM6AKMT2DNCOA6PAGR1RBBP5SAMHD1WDR5WDR82 | O14686O15550P61964Q14686Q15291Q6NYC1Q6UXN9Q9BTK6Q9C005Q9P0U4Q9UBL3Q9Y3Z3 | 1:1:1:1:1:1:1:1:1:1:1:1 | NetworkBlastCompleat | Compleat:HC6317 | ||
| ASH2LCARM1DPY30KDM6AKMT2DNCOA6PAGR1PAXIP1RBBP5THOC1WDR5WDR82 | O14686O15550P61964Q14686Q15291Q6UXN9Q6ZW49Q86X55Q96FV9Q9BTK6Q9C005Q9UBL3 | 1:1:1:1:1:1:1:1:1:1:1:1 | NetworkBlastCompleat | Compleat:HC8644 | ||
| KMT2DTET3 | O14686O43151 | 1:1 | PDB | PDB:8u2y | ||
| GEMIN5KMT2DNR1H3NR4A2RXRB | O14686P28702P43354Q13133Q8TEQ6 | 1:1:1:1:1 | NetworkBlastCompleat | Compleat:HC8572 | ||
| ATN1KMT2DPAXIP1WDR5 | O14686P54259P61964Q6ZW49 | 0:0:0:0 | hu.MAP | |||
| KMT2DWDR5 | O14686P61964 | 3:3 | PDB | PDB:4erqPDB:3uvk | ||
| ASXL2KMT2D | O14686Q76L83 | 1:1 | PDB | PDB:9atn |
Page 3 of 3Previous
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
Antibody
Interaction Protein
ENSG00000091831ENSG00000169083ENSG00000196363
Interaction Count
3
Interaction Dataset
intact_biogrid