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Protein

Mastermind-like protein 3

Gene

MAML3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Acts as a transcriptional coactivator for NOTCH proteins. Has been shown to amplify NOTCH-induced transcription of HES1.2 Publications

GO - Molecular functioni

  • transcription coactivator activity Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Activator

Keywords - Biological processi

Notch signaling pathway, Transcription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-1912408. Pre-NOTCH Transcription and Translation.
R-HSA-2122947. NOTCH1 Intracellular Domain Regulates Transcription.
R-HSA-2197563. NOTCH2 intracellular domain regulates transcription.
R-HSA-2644606. Constitutive Signaling by NOTCH1 PEST Domain Mutants.
R-HSA-2894862. Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants.
R-HSA-350054. Notch-HLH transcription pathway.
SignaLinkiQ96JK9.

Names & Taxonomyi

Protein namesi
Recommended name:
Mastermind-like protein 3
Short name:
Mam-3
Gene namesi
Name:MAML3Imported
Synonyms:KIAA1816Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:16272. MAML3.

Subcellular locationi

  • Nucleus speckle 1 Publication

  • Note: Nuclear, in a punctate manner.

GO - Cellular componenti

  • nuclear speck Source: UniProtKB-SubCell
  • nucleoplasm Source: HPA
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134953776.

Polymorphism and mutation databases

BioMutaiMAML3.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 11381138Mastermind-like protein 3PRO_0000129496Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei603 – 6031N6-acetyllysineCombined sources

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ96JK9.
PaxDbiQ96JK9.
PRIDEiQ96JK9.

PTM databases

iPTMnetiQ96JK9.
PhosphoSiteiQ96JK9.
SwissPalmiQ96JK9.

Expressioni

Gene expression databases

BgeeiQ96JK9.
CleanExiHS_MAML3.
ExpressionAtlasiQ96JK9. baseline and differential.
GenevisibleiQ96JK9. HS.

Organism-specific databases

HPAiHPA037717.

Interactioni

Subunit structurei

Interacts through its N-terminal region with the ankyrin repeat region of the Notch proteins NOTCH1, NOTCH2, NOTCH3 and NOTCH4. Forms a DNA-binding complex with Notch proteins and RBPSUH/RBP-J kappa.2 Publications

Protein-protein interaction databases

BioGridi120704. 9 interactions.
IntActiQ96JK9. 1 interaction.
STRINGi9606.ENSP00000421180.

Structurei

3D structure databases

ProteinModelPortaliQ96JK9.
SMRiQ96JK9. Positions 70-124.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi467 – 968502Gln-richAdd
BLAST
Compositional biasi548 – 59548Asn-richAdd
BLAST

Domaini

The C-terminal domain is required for transcriptional activation.1 Publication

Sequence similaritiesi

Belongs to the mastermind family.Curated

Phylogenomic databases

eggNOGiENOG410IJ3G. Eukaryota.
ENOG410ZYVU. LUCA.
GeneTreeiENSGT00530000063317.
HOGENOMiHOG000113473.
HOVERGENiHBG108116.
InParanoidiQ96JK9.
KOiK06061.
OMAiAGMEAIN.
OrthoDBiEOG793B7M.
PhylomeDBiQ96JK9.
TreeFamiTF332922.

Family and domain databases

InterProiIPR019082. Neuroggenic_mastermind-like_N.
[Graphical view]
PfamiPF09596. MamL-1. 1 hit.
[Graphical view]
SMARTiSM01275. MamL-1. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q96JK9-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MGDFAAPAAA ANGSSICINS SLNSSLGGAG IGVNNTPNST PAAPSSNHPA
60 70 80 90 100
AGGCGGSGGP GGGSAAVPKH STVVERLRQR IEGCRRHHVN CENRYQQAQV
110 120 130 140 150
EQLELERRDT VSLYQRTLEQ RAKKSGAGTG KQQHPSKPQQ DAEAASAEQR
160 170 180 190 200
NHTLIMLQET VKRKLEGARS PLNGDQQNGA CDGNFSPTSK RIRKDISAGM
210 220 230 240 250
EAINNLPSNM PLPSASPLHQ LDLKPSLPLQ NSGTHTPGLL EDLSKNGRLP
260 270 280 290 300
EIKLPVNGCS DLEDSFTILQ SKDLKQEPLD DPTCIDTSET SLSNQNKLFS
310 320 330 340 350
DINLNDQEWQ ELIDELANTV PEDDIQDLFN EDFEEKKEPE FSQPATETPL
360 370 380 390 400
SQESASVKSD PSHSPFAHVS MGSPQARPSS SGPPFSTVST ATSLPSVAST
410 420 430 440 450
PAAPNPASSP ANCAVQSPQT PNQAHTPGQA PPRPGNGYLL NPAAVTVAGS
460 470 480 490 500
ASGPVAVPSS DMSPAEQLKQ MAAQQQQRAK LMQQKQQQQQ QQQQQQQQQQ
510 520 530 540 550
QQQQQQQQQQ HSNQTSNWSP LGPPSSPYGA AFTAEKPNSP MMYPQAFNNQ
560 570 580 590 600
NPIVPPMANN LQKTTMNNYL PQNHMNMINQ QPNNLGTNSL NKQHNILTYG
610 620 630 640 650
NTKPLTHFNA DLSQRMTPPV ANPNKNPLMP YIQQQQQQQQ QQQQQQQQQQ
660 670 680 690 700
PPPPQLQAPR AHLSEDQKRL LLMKQKGVMN QPMAYAALPS HGQEQHPVGL
710 720 730 740 750
PRTTGPMQSS VPPGSGGMVS GASPAGPGFL GSQPQAAIMK QMLIDQRAQL
760 770 780 790 800
IEQQKQQFLR EQRQQQQQQQ QQILAEQQLQ QSHLPRQHLQ PQRNPYPVQQ
810 820 830 840 850
VNQFQGSPQD IAAVRSQAAL QSMRTSRLMA QNAGMMGIGP SQNPGTMATA
860 870 880 890 900
AAQSEMGLAP YSTTPTSQPG MYNMSTGMTQ MLQHPNQSGM SITHNQAQGP
910 920 930 940 950
RQPASGQGVG MVSGFGQSML VNSAITQQHP QMKGPVGQAL PRPQAPPRLQ
960 970 980 990 1000
SLMGTVQQGA QSWQQRSLQG MPGRTSGELG PFNNGASYPL QAGQPRLTKQ
1010 1020 1030 1040 1050
HFPQGLSQSV VDANTGTVRT LNPAAMGRQM MPSLPGQQGT SQARPMVMSG
1060 1070 1080 1090 1100
LSQGVPGMPA FSQPPAQQQI PSGSFAPSSQ SQAYERNAPQ DVSYNYSGDG
1110 1120 1130
AGGSFPGLPD GADLVDSIIK GGPGDEWMQE LDELFGNP
Length:1,138
Mass (Da):122,293
Last modified:September 3, 2014 - v4
Checksum:i145C1CA5F2F7EEB0
GO

Sequence cautioni

The sequence BAB47445.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAG53919.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti486 – 4894Missing in BAB47445 (PubMed:11347906).Curated
Sequence conflicti486 – 4894Missing in BAG53919 (PubMed:14702039).Curated
Sequence conflicti486 – 4894Missing in EAX05107 (Ref. 4) Curated
Sequence conflicti486 – 4894Missing in AAI37132 (PubMed:15489334).Curated
Sequence conflicti486 – 4894Missing in AAI37131 (PubMed:15489334).Curated
Sequence conflicti1064 – 10641P → H in BAB47445 (PubMed:11347906).Curated
Sequence conflicti1064 – 10641P → H in BAG53919 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti768 – 7681Missing .4 Publications
VAR_046650

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB058719 mRNA. Translation: BAB47445.1. Different initiation.
AK123604 mRNA. Translation: BAG53919.1. Different initiation.
AC097464 Genomic DNA. No translation available.
AC104798 Genomic DNA. No translation available.
AC108053 Genomic DNA. No translation available.
AC131182 Genomic DNA. No translation available.
CH471056 Genomic DNA. Translation: EAX05107.1.
BC137130 mRNA. Translation: AAI37131.1.
BC137131 mRNA. Translation: AAI37132.1.
RefSeqiNP_061187.2. NM_018717.4.
UniGeneiHs.586165.

Genome annotation databases

EnsembliENST00000509479; ENSP00000421180; ENSG00000196782.
GeneIDi55534.
KEGGihsa:55534.
UCSCiuc062zte.1. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB058719 mRNA. Translation: BAB47445.1. Different initiation.
AK123604 mRNA. Translation: BAG53919.1. Different initiation.
AC097464 Genomic DNA. No translation available.
AC104798 Genomic DNA. No translation available.
AC108053 Genomic DNA. No translation available.
AC131182 Genomic DNA. No translation available.
CH471056 Genomic DNA. Translation: EAX05107.1.
BC137130 mRNA. Translation: AAI37131.1.
BC137131 mRNA. Translation: AAI37132.1.
RefSeqiNP_061187.2. NM_018717.4.
UniGeneiHs.586165.

3D structure databases

ProteinModelPortaliQ96JK9.
SMRiQ96JK9. Positions 70-124.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120704. 9 interactions.
IntActiQ96JK9. 1 interaction.
STRINGi9606.ENSP00000421180.

PTM databases

iPTMnetiQ96JK9.
PhosphoSiteiQ96JK9.
SwissPalmiQ96JK9.

Polymorphism and mutation databases

BioMutaiMAML3.

Proteomic databases

EPDiQ96JK9.
PaxDbiQ96JK9.
PRIDEiQ96JK9.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000509479; ENSP00000421180; ENSG00000196782.
GeneIDi55534.
KEGGihsa:55534.
UCSCiuc062zte.1. human.

Organism-specific databases

CTDi55534.
GeneCardsiMAML3.
HGNCiHGNC:16272. MAML3.
HPAiHPA037717.
MIMi608991. gene.
neXtProtiNX_Q96JK9.
PharmGKBiPA134953776.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJ3G. Eukaryota.
ENOG410ZYVU. LUCA.
GeneTreeiENSGT00530000063317.
HOGENOMiHOG000113473.
HOVERGENiHBG108116.
InParanoidiQ96JK9.
KOiK06061.
OMAiAGMEAIN.
OrthoDBiEOG793B7M.
PhylomeDBiQ96JK9.
TreeFamiTF332922.

Enzyme and pathway databases

ReactomeiR-HSA-1912408. Pre-NOTCH Transcription and Translation.
R-HSA-2122947. NOTCH1 Intracellular Domain Regulates Transcription.
R-HSA-2197563. NOTCH2 intracellular domain regulates transcription.
R-HSA-2644606. Constitutive Signaling by NOTCH1 PEST Domain Mutants.
R-HSA-2894862. Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants.
R-HSA-350054. Notch-HLH transcription pathway.
SignaLinkiQ96JK9.

Miscellaneous databases

ChiTaRSiMAML3. human.
GenomeRNAii55534.
NextBioi35500700.
PROiQ96JK9.
SOURCEiSearch...

Gene expression databases

BgeeiQ96JK9.
CleanExiHS_MAML3.
ExpressionAtlasiQ96JK9. baseline and differential.
GenevisibleiQ96JK9. HS.

Family and domain databases

InterProiIPR019082. Neuroggenic_mastermind-like_N.
[Graphical view]
PfamiPF09596. MamL-1. 1 hit.
[Graphical view]
SMARTiSM01275. MamL-1. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O.
    DNA Res. 8:85-95(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT GLN-768 DEL.
    Tissue: BrainImported.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT GLN-768 DEL.
    Tissue: Tongue.
  3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT GLN-768 DEL.
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT GLN-768 DEL.
    Tissue: Brain.
  6. "Identification of new human mastermind proteins defines a family that consists of positive regulators for Notch signaling."
    Lin S.-E., Oyama T., Nagase T., Harigaya K., Kitagawa M.
    J. Biol. Chem. 277:50612-50620(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH NOTCH1.
  7. "Identification of a family of mastermind-like transcriptional coactivators for mammalian notch receptors."
    Wu L., Sun T., Kobayashi K., Gao P., Griffin J.D.
    Mol. Cell. Biol. 22:7688-7700(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH NOTCH1; NOTCH2; NOTCH3 AND NOTCH4.
  8. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
    Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
    Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-603, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiMAML3_HUMAN
AccessioniPrimary (citable) accession number: Q96JK9
Secondary accession number(s): B2RNU9, B3KVV7, E7EVW8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 5, 2005
Last sequence update: September 3, 2014
Last modified: May 11, 2016
This is version 110 of the entry and version 4 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.