MAML3_HUMAN
ID MAML3_HUMAN Reviewed; 1138 AA.
AC Q96JK9; B2RNU9; B3KVV7; E7EVW8;
DT 05-JUL-2005, integrated into UniProtKB/Swiss-Prot.
DT 03-SEP-2014, sequence version 4.
DT 03-AUG-2022, entry version 153.
DE RecName: Full=Mastermind-like protein 3;
DE Short=Mam-3;
GN Name=MAML3 {ECO:0000312|HGNC:HGNC:16272};
GN Synonyms=KIAA1816 {ECO:0000312|EMBL:BAB47445.1};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1] {ECO:0000312|EMBL:BAB47445.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT GLN-768 DEL.
RC TISSUE=Brain {ECO:0000312|EMBL:BAB47445.1};
RX PubMed=11347906; DOI=10.1093/dnares/8.2.85;
RA Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XX. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 8:85-95(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT GLN-768 DEL.
RC TISSUE=Tongue;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT GLN-768 DEL.
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT GLN-768 DEL.
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP FUNCTION, AND INTERACTION WITH NOTCH1.
RX PubMed=12386158; DOI=10.1074/jbc.m209529200;
RA Lin S.-E., Oyama T., Nagase T., Harigaya K., Kitagawa M.;
RT "Identification of new human mastermind proteins defines a family that
RT consists of positive regulators for Notch signaling.";
RL J. Biol. Chem. 277:50612-50620(2002).
RN [7] {ECO:0000305}
RP FUNCTION, SUBCELLULAR LOCATION, AND INTERACTION WITH NOTCH1; NOTCH2; NOTCH3
RP AND NOTCH4.
RX PubMed=12370315; DOI=10.1128/mcb.22.21.7688-7700.2002;
RA Wu L., Sun T., Kobayashi K., Gao P., Griffin J.D.;
RT "Identification of a family of mastermind-like transcriptional coactivators
RT for mammalian notch receptors.";
RL Mol. Cell. Biol. 22:7688-7700(2002).
RN [8]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-603, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19608861; DOI=10.1126/science.1175371;
RA Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C.,
RA Olsen J.V., Mann M.;
RT "Lysine acetylation targets protein complexes and co-regulates major
RT cellular functions.";
RL Science 325:834-840(2009).
CC -!- FUNCTION: Acts as a transcriptional coactivator for NOTCH proteins. Has
CC been shown to amplify NOTCH-induced transcription of HES1.
CC {ECO:0000269|PubMed:12370315, ECO:0000269|PubMed:12386158}.
CC -!- SUBUNIT: Interacts through its N-terminal region with the ankyrin
CC repeat region of the Notch proteins NOTCH1, NOTCH2, NOTCH3 and NOTCH4.
CC Forms a DNA-binding complex with Notch proteins and RBPSUH/RBP-J kappa.
CC {ECO:0000269|PubMed:12370315, ECO:0000269|PubMed:12386158}.
CC -!- INTERACTION:
CC Q96JK9; PRO_0000007676 [P46531]: NOTCH1; NbExp=2; IntAct=EBI-1043855, EBI-9692333;
CC -!- SUBCELLULAR LOCATION: Nucleus speckle {ECO:0000269|PubMed:12370315}.
CC Note=Nuclear, in a punctate manner.
CC -!- DOMAIN: The C-terminal domain is required for transcriptional
CC activation. {ECO:0000269|PubMed:12370315}.
CC -!- SIMILARITY: Belongs to the mastermind family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB47445.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAG53919.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AB058719; BAB47445.1; ALT_INIT; mRNA.
DR EMBL; AK123604; BAG53919.1; ALT_INIT; mRNA.
DR EMBL; AC097464; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC104798; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC108053; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC131182; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471056; EAX05107.1; -; Genomic_DNA.
DR EMBL; BC137130; AAI37131.1; -; mRNA.
DR EMBL; BC137131; AAI37132.1; -; mRNA.
DR CCDS; CCDS54805.1; -.
DR RefSeq; NP_061187.2; NM_018717.4.
DR AlphaFoldDB; Q96JK9; -.
DR SMR; Q96JK9; -.
DR BioGRID; 120704; 15.
DR CORUM; Q96JK9; -.
DR IntAct; Q96JK9; 11.
DR MINT; Q96JK9; -.
DR STRING; 9606.ENSP00000421180; -.
DR iPTMnet; Q96JK9; -.
DR PhosphoSitePlus; Q96JK9; -.
DR SwissPalm; Q96JK9; -.
DR BioMuta; MAML3; -.
DR EPD; Q96JK9; -.
DR MassIVE; Q96JK9; -.
DR PaxDb; Q96JK9; -.
DR PeptideAtlas; Q96JK9; -.
DR PRIDE; Q96JK9; -.
DR ProteomicsDB; 18717; -.
DR ProteomicsDB; 76979; -.
DR Antibodypedia; 7420; 220 antibodies from 28 providers.
DR DNASU; 55534; -.
DR Ensembl; ENST00000509479.6; ENSP00000421180.1; ENSG00000196782.13.
DR GeneID; 55534; -.
DR KEGG; hsa:55534; -.
DR MANE-Select; ENST00000509479.6; ENSP00000421180.1; NM_018717.5; NP_061187.3.
DR UCSC; uc062zte.1; human.
DR CTD; 55534; -.
DR DisGeNET; 55534; -.
DR GeneCards; MAML3; -.
DR HGNC; HGNC:16272; MAML3.
DR HPA; ENSG00000196782; Low tissue specificity.
DR MIM; 608991; gene.
DR neXtProt; NX_Q96JK9; -.
DR OpenTargets; ENSG00000196782; -.
DR PharmGKB; PA134953776; -.
DR VEuPathDB; HostDB:ENSG00000196782; -.
DR eggNOG; ENOG502QWEV; Eukaryota.
DR GeneTree; ENSGT00950000183201; -.
DR HOGENOM; CLU_008569_0_0_1; -.
DR InParanoid; Q96JK9; -.
DR OMA; HNCVARS; -.
DR OrthoDB; 177202at2759; -.
DR PhylomeDB; Q96JK9; -.
DR TreeFam; TF332922; -.
DR PathwayCommons; Q96JK9; -.
DR Reactome; R-HSA-1912408; Pre-NOTCH Transcription and Translation.
DR Reactome; R-HSA-210744; Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells.
DR Reactome; R-HSA-2122947; NOTCH1 Intracellular Domain Regulates Transcription.
DR Reactome; R-HSA-2197563; NOTCH2 intracellular domain regulates transcription.
DR Reactome; R-HSA-2644606; Constitutive Signaling by NOTCH1 PEST Domain Mutants.
DR Reactome; R-HSA-2894862; Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants.
DR Reactome; R-HSA-350054; Notch-HLH transcription pathway.
DR Reactome; R-HSA-8941856; RUNX3 regulates NOTCH signaling.
DR Reactome; R-HSA-9013508; NOTCH3 Intracellular Domain Regulates Transcription.
DR Reactome; R-HSA-9013695; NOTCH4 Intracellular Domain Regulates Transcription.
DR SignaLink; Q96JK9; -.
DR SIGNOR; Q96JK9; -.
DR BioGRID-ORCS; 55534; 10 hits in 1072 CRISPR screens.
DR ChiTaRS; MAML3; human.
DR GenomeRNAi; 55534; -.
DR Pharos; Q96JK9; Tbio.
DR PRO; PR:Q96JK9; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q96JK9; protein.
DR Bgee; ENSG00000196782; Expressed in germinal epithelium of ovary and 161 other tissues.
DR ExpressionAtlas; Q96JK9; baseline and differential.
DR Genevisible; Q96JK9; HS.
DR GO; GO:0016607; C:nuclear speck; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IBA:GO_Central.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0003713; F:transcription coactivator activity; IDA:UniProtKB.
DR GO; GO:0007219; P:Notch signaling pathway; IDA:UniProtKB.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:UniProtKB.
DR GO; GO:0007221; P:positive regulation of transcription of Notch receptor target; IBA:GO_Central.
DR Gene3D; 6.10.250.970; -; 1.
DR InterPro; IPR046369; MAML1-3.
DR InterPro; IPR046370; MAML_N_sf.
DR InterPro; IPR019082; Mastermind-like_N.
DR PANTHER; PTHR15692; PTHR15692; 2.
DR Pfam; PF09596; MamL-1; 1.
DR SMART; SM01275; MamL-1; 1.
PE 1: Evidence at protein level;
KW Acetylation; Activator; Notch signaling pathway; Nucleus;
KW Reference proteome; Transcription; Transcription regulation.
FT CHAIN 1..1138
FT /note="Mastermind-like protein 3"
FT /id="PRO_0000129496"
FT REGION 37..68
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 119..148
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 169..188
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 207..237
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 334..480
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 503..547
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 615..662
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 691..721
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 968..991
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1024..1084
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1090..1109
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 126..148
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 171..185
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 344..426
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 463..480
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 503..523
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 615..651
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 702..716
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1033..1048
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1062..1084
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 603
FT /note="N6-acetyllysine"
FT /evidence="ECO:0007744|PubMed:19608861"
FT VARIANT 768
FT /note="Missing"
FT /evidence="ECO:0000269|PubMed:11347906,
FT ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334,
FT ECO:0000269|Ref.4"
FT /id="VAR_046650"
FT CONFLICT 486..489
FT /note="Missing (in Ref. 1; BAB47445, 2; BAG53919, 4;
FT EAX05107 and 5; AAI37132/AAI37131)"
FT /evidence="ECO:0000305"
FT CONFLICT 1064
FT /note="P -> H (in Ref. 1; BAB47445 and 2; BAG53919)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1138 AA; 122293 MW; 145C1CA5F2F7EEB0 CRC64;
MGDFAAPAAA ANGSSICINS SLNSSLGGAG IGVNNTPNST PAAPSSNHPA AGGCGGSGGP
GGGSAAVPKH STVVERLRQR IEGCRRHHVN CENRYQQAQV EQLELERRDT VSLYQRTLEQ
RAKKSGAGTG KQQHPSKPQQ DAEAASAEQR NHTLIMLQET VKRKLEGARS PLNGDQQNGA
CDGNFSPTSK RIRKDISAGM EAINNLPSNM PLPSASPLHQ LDLKPSLPLQ NSGTHTPGLL
EDLSKNGRLP EIKLPVNGCS DLEDSFTILQ SKDLKQEPLD DPTCIDTSET SLSNQNKLFS
DINLNDQEWQ ELIDELANTV PEDDIQDLFN EDFEEKKEPE FSQPATETPL SQESASVKSD
PSHSPFAHVS MGSPQARPSS SGPPFSTVST ATSLPSVAST PAAPNPASSP ANCAVQSPQT
PNQAHTPGQA PPRPGNGYLL NPAAVTVAGS ASGPVAVPSS DMSPAEQLKQ MAAQQQQRAK
LMQQKQQQQQ QQQQQQQQQQ QQQQQQQQQQ HSNQTSNWSP LGPPSSPYGA AFTAEKPNSP
MMYPQAFNNQ NPIVPPMANN LQKTTMNNYL PQNHMNMINQ QPNNLGTNSL NKQHNILTYG
NTKPLTHFNA DLSQRMTPPV ANPNKNPLMP YIQQQQQQQQ QQQQQQQQQQ PPPPQLQAPR
AHLSEDQKRL LLMKQKGVMN QPMAYAALPS HGQEQHPVGL PRTTGPMQSS VPPGSGGMVS
GASPAGPGFL GSQPQAAIMK QMLIDQRAQL IEQQKQQFLR EQRQQQQQQQ QQILAEQQLQ
QSHLPRQHLQ PQRNPYPVQQ VNQFQGSPQD IAAVRSQAAL QSMRTSRLMA QNAGMMGIGP
SQNPGTMATA AAQSEMGLAP YSTTPTSQPG MYNMSTGMTQ MLQHPNQSGM SITHNQAQGP
RQPASGQGVG MVSGFGQSML VNSAITQQHP QMKGPVGQAL PRPQAPPRLQ SLMGTVQQGA
QSWQQRSLQG MPGRTSGELG PFNNGASYPL QAGQPRLTKQ HFPQGLSQSV VDANTGTVRT
LNPAAMGRQM MPSLPGQQGT SQARPMVMSG LSQGVPGMPA FSQPPAQQQI PSGSFAPSSQ
SQAYERNAPQ DVSYNYSGDG AGGSFPGLPD GADLVDSIIK GGPGDEWMQE LDELFGNP
